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Sample records for hypertrophic cardiomyopathy relation

  1. Interaction of Adverse Disease Related Pathways in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rowin, Ethan J; Maron, Martin S; Chan, Raymond H; Hausvater, Anais; Wang, Wendy; Rastegar, Hassan; Maron, Barry J

    2017-12-15

    Hypertrophic cardiomyopathy (HC) has been characterized as a generally progressive genetic heart disease, creating an ominous perspective for patients and managing cardiologists. We explored the HC disease burden and interaction of adverse clinical pathways to clarify patient expectations over long time periods in the contemporary therapeutic era. We studied 1,000 consecutive HC patients (52 ± 17 years) at Tufts Medical Center, followed 9.3 ± 8 years from diagnosis, employing a novel disease pathway model: 46% experienced a benign course free of adverse pathways, but 42% of patients progressed along 1 major pathway, most commonly refractory heart failure to New York Heart Association class III or IV requiring surgical myectomy (or alcohol ablation) or heart transplant; repetitive or permanent atrial fibrillation; and least commonly arrhythmic sudden death events. Eleven percent experienced 2 of these therapeutic end points at different times in their clinical course, most frequently the combination of advanced heart failure and atrial fibrillation, whereas only 1% incurred all 3 pathways. Freedom of progression from 1 to 2 disease pathways, or from 2 to 3 was 80% and 93% at 5 years, respectively. Annual HC-related mortality did not differ according to the number of pathways: 1 (0.8%), 2 (0.8%), or 3 (2.4%) (p = 0.56), and 93% of patients were in New York Heart Association classes I or II at follow-up. In conclusion, it is uncommon for HC patients to experience multiple adverse (but treatable) disease pathways, underscoring the principle that HC is not a uniformly progressive disease. These observations provide a measure of clarity and/or reassurance to patients regarding the true long-term disease burden of HC. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. Hypertrophic Cardiomyopathy Association

    Science.gov (United States)

    ... be donated to Hypertrophic Cardiomyopathy Association. iGive.com - Online Shopping Joing iGive.com to earn money for the ... it works, check out the iGive website . AmazonSmile - Online Shopping Amazon donates 0.5% of the purchase price ...

  3. Hypertrophic cardiomyopathy secondary to hepatitis C virus-related vasculitis.

    Science.gov (United States)

    Cavalli, Giulio; Berti, Alvise; Fragasso, Gabriele; De Cobelli, Francesco

    2016-12-01

    : Almost invariably associated with chronic HCV infection, cryoglobulinemic vasculitis is a small-vessel vasculitis commonly affecting the skin, kidneys, and peripheral nervous system. Cardiac involvement, possibly due to cardiac microcirculation involvement, is an utterly rare and severe complication. We describe a case of hypertrophic cardiomyopathy secondary to cryoglobulinemic vasculitis. Evaluation with transthoracic cardiac ultrasound and cardiac MRI evidenced severe left ventricular hypertrophy and diffuse hypokinesia, a marked decrease in left ventricular ejection fraction, and a subtle late enhancement of inferior and lateral left ventricular walls. Upon clinical stabilization, the patient received treatment with anti-CD20 monoclonal antibody rituximab. Clinical and radiological follow-up with cardiac ultrasound and cardiac MRI documented a dramatic and sustained clinical improvement, with marked reduction of left ventricular hypertrophy, resolution of late enhancement, recovery of left ventricular contractility and function.

  4. Hypertrophic Cardiomyopathy: Clinical Update.

    Science.gov (United States)

    Geske, Jeffrey B; Ommen, Steve R; Gersh, Bernard J

    2018-05-01

    Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  5. Myocardial ischemia in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Lima Filho, Moyses de Oliveira; Figueiredo, Geraldo L.; Simoes, Marcus V.; Pyntia, Antonio O.; Marin Neto, Jose Antonio

    2000-01-01

    Myocardial ischemia in hypertrophic cardiomyopathy is multifactorial and explains the occurrence of angina, in about 50% of patients. The pathophysiology of myocardial ischemia may be explained by the increase of the ventricular mass and relative paucity of the coronary microcirculation; the elevated ventricular filling pressures and myocardial stiffness causing a compression of the coronary microvessels; the impaired coronary vasodilator flow reserve caused by anatomic and functional abnormalities; and the systolic compression of epicardial vessel (myocardial bridges). Myocardial ischemia must be investigated by perfusion scintigraphic methods since its presence influences the prognosis and has relevant clinical implications for management of patients. Patients with hypertrophic cardiomyopathy and documented myocardial ischemia usually need to undergo invasive coronary angiography to exclude the presence of concomitant atherosclerotic coronary disease. (author)

  6. Echocardiographic evaluation of pre-diagnostic development in young relatives genetically predisposed to hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten K; Havndrup, Ole; Christiansen, Michael

    2015-01-01

    Identification of the first echocardiographic manifestations of hypertrophic cardiomyopathy may be important for clinical management and our understanding of the pathogenesis. We studied the development of pre-diagnostic echocardiographic changes in young relatives to HCM patients during long...... of relatives with unknown genetic status. Children carrying pathogenic sarcomere gene mutations develop reduced LVEDd and increased E/e' as first pre-diagnostic echocardiographic manifestations during follow-up into adulthood.......-term years follow-up. HCM-relatives not fulfilling the diagnostic criteria for HCM and age of family screening of 11 sarcomere genes, CRYAB, α-GAL, and titin, we evaluated...

  7. Living with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Subasic, Kim

    2013-12-01

    The purpose of this study is to provide an insider's account of what it is like to live with hypertrophic cardiomyopathy (HCM), a genetic cardiovascular illness that carries the risk for sudden cardiac death. This study aims to reveal how HCM impacts the family and guides the decision whether or not to pursue genetic testing, how the physical limitations associated with HCM alter being-in-the-world, and how HCM alters social relationships. Fifteen adults with HCM were recruited for a longitudinal, phenomenological, qualitative study through purposive sampling and word of mouth. A total of 45 interviews were conducted by the researcher at a time and place designated by the participant between August 2011 and January 2012. The first interview with each participant was conducted in person. While efforts were made to conduct all interviews in person, a total of three interviews were conducted by telephone as requested by three participants due to scheduling conflicts. Through methods of interpretive phenomenology, three audio-recorded, semistructured interviews occurred over the course of 3 months. Detailed narratives were solicited and transcribed verbatim. Methodological and analytical documentation was supported with the identification of key phrases, similar experiences, themes, and documentation of the rationale for decisions throughout the research process. Participation in genetic testing carries a multitude of personal, familial, financial, and emotional implications. The results of a genetic test elicited an emotional response regardless of whether the results were negative, positive, or inconclusive. Living with a potentially life-threatening illness altered identity, disrupted social relationships, and generated chronic fear and uncertainty. A new normal was re-ordered or transformed by the demands and limitations posed by HCM, and by the person's concerns, priorities, and the meaning of the illness. Results from this study underscore the need for healthcare

  8. Clinical-radiological experiences in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Hofmann, A; Bonse, G; Beck, B; Sauter, E; Sundermeyer, R; Gunkel, L V

    1986-09-01

    The hypertrophic cardiomyopathy shows a series of interesting clinical and radiological problems, discussed in case of selected patients. A special difficult problem arises in the differential diagnosis of hypertrophic cardiomyopathy and cardiac disease secondary to systemic hypertension.

  9. Subaortic membrane mimicking hypertrophic cardiomyopathy.

    Science.gov (United States)

    Anderson, Mark Joseph; Arruda-Olson, Adelaide; Gersh, Bernard; Geske, Jeffrey

    2015-11-04

    A 34-year-old man was referred for progressive angina and exertional dyspnoea refractory to medical therapy, with a presumptive diagnosis of hypertrophic cardiomyopathy (HCM). Transthoracic echocardiography (TTE) revealed asymmetric septal hypertrophy without systolic anterior motion of the mitral valve leaflet and with no dynamic left ventricular outflow tract (LVOT) obstruction. However, the LVOT velocity was elevated at rest as well as with provocation, without the characteristic late peaking obstruction seen in HCM. Focused TTE to evaluate for suspected fixed obstruction demonstrated a subaortic membrane 2.2 cm below the aortic valve. Coronary CT angiography confirmed the presence of the subaortic membrane and was negative for concomitant coronary artery disease. Surgical resection of the subaortic membrane and septal myectomy resulted in significant symptomatic relief and lower LVOT velocities on postoperative TTE. This case reminds the clinician to carefully evaluate for alternative causes of LVOT obstruction, especially subaortic membrane, as a cause of symptoms mimicking HCM. 2015 BMJ Publishing Group Ltd.

  10. Apical Hypertrophic Cardiomyopathy in Association with PulmonaryArtery Hypertension

    Directory of Open Access Journals (Sweden)

    Mehdi Peighambari

    2012-09-01

    Full Text Available Apical Hypertrophic Cardiomyopathy is an uncommon condition constituting 1% -2% of the cases with Hypertrophic Cardiomyopathy (HCM diagnosis. We interestingly report two patients with apical hypertrophic cardiomyopathy in association with significant pulmonary artery hypertension without any other underlying reason for pulmonary hypertension. The patients were assessed by echocardiography, cardiac catheterization and pulmonary function parameters study.

  11. Spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Tuncer, M.; Gumrukcuoglu, H.A.; Ekim, H.; Gunes, Y.; Simsek, H.

    2010-01-01

    Apical hypertrophic cardiomyopathy (HCM) is a relatively uncommon inherited disease. Spontaneous coronary artery dissection (SCAD) is also uncommonly observed, which often occurs in pregnant or post partum women but is rare in men. This report describes a 38 years old man with apical hypertrophic cardiomyopathy who developed SCAD leading to acute inferior myocardial infarction. After emergent appendectomy operation at another hospital, he was immediately transferred to the Cardiology Department of our hospital due to acute myocardial infarction. He emergently underwent coronary angiography which showed a long dissection involving the right coronary. He underwent an emergent CABG with cardiopulmonary bypass. Postoperative recovery was uneventful and he was discharged. According to our knowledge, no case of spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy unrelated to postpartum period or oral contraceptive use has been reported so far. (author)

  12. Pregnancy in women with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Pieper, P. G.; Walker, F.

    Hypertrophic cardiomyopathy (HCM) is increasingly being diagnosed in pregnant women. Women with HCM generally tolerate pregnancy well. The risk is however higher in women who are symptomatic before pregnancy or in those with severe left ventricular outflow tract obstruction. The incidence of

  13. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

    Science.gov (United States)

    Charron, P; Dubourg, O; Desnos, M; Bennaceur, M; Carrier, L; Camproux, A C; Isnard, R; Hagege, A; Langlard, J M; Bonne, G; Richard, P; Hainque, B; Bouhour, J B; Schwartz, K; Komajda, M

    1998-06-09

    Little information is available on phenotype-genotype correlations in familial hypertrophic cardiomyopathy that are related to the cardiac myosin binding protein C (MYBPC3) gene. The aim of this study was to perform this type of analysis. We studied 76 genetically affected subjects from nine families with seven recently identified mutations (SASint20, SDSint7, SDSint23, branch point int23, Glu542Gln, a deletion in exon 25, and a duplication/deletion in exon 33) in the MYBPC3 gene. Detailed clinical, ECG, and echocardiographic parameters were analyzed. An intergene analysis was performed by comparing the MYBPC3 group to seven mutations in the beta-myosin heavy-chain gene (beta-MHC) group (n=52). There was no significant phenotypic difference among the different mutations in the MYBPC3 gene. However, in the MYBPC3 group compared with the beta-MHC group, (1) prognosis was significantly better (P<0.0001), and no deaths occurred before the age of 40 years; (2) the age at onset of symptoms was delayed (41+/-19 versus 35+/-17 years, P<0.002); and (3) before 30 years of age, the phenotype was particularly mild because penetrance was low (41% versus 62%), maximal wall thicknesses lower (12+/-4 versus 16+/-7 mm, P<0.03), and abnormal T waves less frequent (9% versus 45%, P<0.02). These results are consistent with specific clinical features related to the MYBPC3 gene: onset of the disease appears delayed and the prognosis is better than that associated with the beta-MHC gene. These findings could be particularly important for the purpose of clinical management and genetic counseling in familial hypertrophic cardiomyopathy.

  14. Assessment of hypertrophic cardiomyopathy by ECG gated cardiac computed tomography

    International Nuclear Information System (INIS)

    Takeuchi, Kazuhide; Tanaka, Chujiro; Oku, Hisao

    1981-01-01

    The applicability of ECG gated cardiac computed tomography (CT) in 12 patients with hypertrophic cardiomyopathy was examined. Six of the 12 patients had hypertrophic obstructive cardiomyopathy, including one patient with mid-ventricular obstruction. Three of the 12 patients had hypertrophic non-obstructive cardiomyopathy, and three had apical hypertrophic cardiomyopathy. The diagnosis of hypertrophic cardiomyopathy was confirmed by the angiocardiogram in all patients. Cardiac CT was performed after intravenous administration of contrast media usually given as a bolus injection. The gantry was set with positive 20 0 tilt angle. In all patients with hypertrophic obstructive cardiomyopathy except for mid-ventricular obstruction, the hypertrophied interventricular septum in the basal and mid portions was observed, and the left ventricular cavity was narrowed in systole. In a patient with mid-ventricular obstruction, the marked hypertrophied interventricular septum and antero-lateral papillary muscle were observed. In diastole, the left ventricular cavity was narrow and divided into two parts. The apical cavity was completely disappeared in systole. In all patients with hypertrophic non-obstructive cardiomyopathy, the diffuse hypertrophied interventricular septum was observed in diastole. In systole, the apical portion of the left ventricular cavity was markedly narrow and antero-lateral papillary muscle was hypertrophic. In all patients with apical hypertrophic cardiomyopathy, the marked apical hypertrophy of the left ventricular wall was observed in diastole. It is concluded that ECG gated cardiac CT could estimate myocardial wall motion and thickness and differentiate the types of hypertrophic cardiomyopathy each other. (author)

  15. Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Fayol, L; Masson, P; Millet, V; Simeoni, U

    2004-10-01

    Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur.

  16. Magnetic resonance imaging in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Ichida, Fukiko; Hamamichi, Yuuji; Hashimoto, Ikuo; Tsubata, Shinichi; Miyazaki, Ayumi; Okada, Toshio; Futatsuya, Ryuusuke; Okada, Eikichi

    1994-01-01

    To evaluate the capability of magnetic resonance imaging (MRI) in the anatomical diagnosis and tissue characterization, 8 children with hypertrophic cardiomyopathy were studied comparing with echocardiography and 201 Tl myocardial imaging. The severity and distribution of hypertrophy were comparable on echocardiography and MRI. MRI was superior to echocardiography to demonstrate the apical hypertrophy. In 4 patients with severe hypertrophy, heterogenous high signal intensity was demonstrated in the site of hypertrophy, which was enhanced by T 2 weighted imaging. In the patient with decreased cardiac performance and progressed cardiac failure, the heterogeneity and high signal intensity progressed in one year interval. Simultaneously performed 201 Tl myocardial imaging showed patchy perfusion defect. Histological findings of the left ventricle demonstrated hypertrophy, degeneration and marked dysarray of the myocytes and fibrosis. MRI has the potential ability for the evaluation and sequential monitoring of myocardial tissue characterization as well as cardiac anatomy in childhood hypertrophic cardiomyopathy. (author)

  17. Magnetic resonance imaging in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Ichida, Fukiko; Hamamichi, Yuuji; Hashimoto, Ikuo; Tsubata, Shinichi; Miyazaki, Ayumi; Okada, Toshio; Futatsuya, Ryuusuke; Okada, Eikichi [Toyama Medical and Pharmaceutical Univ. (Japan)

    1994-02-01

    To evaluate the capability of magnetic resonance imaging (MRI) in the anatomical diagnosis and tissue characterization, 8 children with hypertrophic cardiomyopathy were studied comparing with echocardiography and [sup 201]Tl myocardial imaging. The severity and distribution of hypertrophy were comparable on echocardiography and MRI. MRI was superior to echocardiography to demonstrate the apical hypertrophy. In 4 patients with severe hypertrophy, heterogenous high signal intensity was demonstrated in the site of hypertrophy, which was enhanced by T[sub 2] weighted imaging. In the patient with decreased cardiac performance and progressed cardiac failure, the heterogeneity and high signal intensity progressed in one year interval. Simultaneously performed [sup 201]Tl myocardial imaging showed patchy perfusion defect. Histological findings of the left ventricle demonstrated hypertrophy, degeneration and marked dysarray of the myocytes and fibrosis. MRI has the potential ability for the evaluation and sequential monitoring of myocardial tissue characterization as well as cardiac anatomy in childhood hypertrophic cardiomyopathy. (author).

  18. ACE I/D polymorphism in Indian patients with hypertrophic cardiomyopathy and dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Dhandapany, Perundurai Subramaniam; Ahluwalia, Tarun Veer Singh

    2008-01-01

    The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM).......The study was carried to determine the association of angiotensin converting enzyme (ACE) insertion/deletion (I/D) polymorphism with the risk of hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and restrictive cardiomyopathy (RCM)....

  19. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    OpenAIRE

    Schofield, Rebecca; Manacho, Katia; Castelletti, Silvia; Moon, James C.

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR) an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE) technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and ex...

  20. Determination of multidirectional myocardial deformations in cats with hypertrophic cardiomyopathy by using two-dimensional speckle-tracking echocardiography.

    Science.gov (United States)

    Suzuki, Ryohei; Mochizuki, Yohei; Yoshimatsu, Hiroki; Teshima, Takahiro; Matsumoto, Hirotaka; Koyama, Hidekazu

    2017-12-01

    Objectives Hypertrophic cardiomyopathy, a primary disorder of the myocardium, is the most common cardiac disease in cats. However, determination of myocardial deformation with two-dimensional speckle-tracking echocardiography in cats with various stages of hypertrophic cardiomyopathy has not yet been reported. This study was designed to measure quantitatively multidirectional myocardial deformations of cats with hypertrophic cardiomyopathy. Methods Thirty-two client-owned cats with hypertrophic cardiomyopathy and 14 healthy cats serving as controls were enrolled and underwent assessment of myocardial deformation (peak systolic strain and strain rate) in the longitudinal, radial and circumferential directions. Results Longitudinal and radial deformations were reduced in cats with hypertrophic cardiomyopathy, despite normal systolic function determined by conventional echocardiography. Cats with severely symptomatic hypertrophic cardiomyopathy also had lower peak systolic circumferential strain, in addition to longitudinal and radial strain. Conclusions and relevance Longitudinal and radial deformation may be helpful in the diagnosis of hypertrophic cardiomyopathy. Additionally, the lower circumferential deformation in cats with severe hypertrophic cardiomyopathy may contribute to clinical findings of decompensation, and seems to be related to severe cardiac clinical signs. Indices of multidirectional myocardial deformations by two-dimensional speckle-tracking echocardiography may be useful markers and help to distinguish between cats with hypertrophic cardiomyopathy and healthy cats. Additionally, they may provide more detailed assessment of contractile function in cats with hypertrophic cardiomyopathy.

  1. Cardiac norepinephrine kinetics in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Brush, J.E. Jr.; Eisenhofer, G.; Garty, M.; Stull, R.; Maron, B.J.; Cannon, R.O. III; Panza, J.A.; Epstein, S.E.; Goldstein, D.S.

    1989-01-01

    We examined the uptake and release of norepinephrine in the cardiac circulation and other regional vascular beds in 11 patients with hypertrophic cardiomyopathy (HCM) and in 10 control subjects during simultaneous infusion of tracer-labeled norepinephrine and isoproterenol. Cardiac neuronal uptake of norepinephrine was assessed by comparing regional removal of tracer-labeled norepinephrine with that of tracer-labeled isoproterenol (which is not a substrate for neuronal uptake) and by the relation between production of dihydroxyphenylglycol (DHPG), an exclusively intraneuronal metabolite of norepinephrine, and regional spillover of norepinephrine. Cardiac extraction of norepinephrine averaged 59 +/- 17% in the patients with HCM, significantly less than in the control subjects (79 +/- 13%, p less than 0.05), whereas cardiac extraction of isoproterenol was similar in the two groups (13 +/- 23% versus 13 +/- 14%), indicating that neuronal uptake of norepinephrine was decreased in the patients with HCM. The cardiac arteriovenous difference in norepinephrine was significantly larger in the patients with HCM than in the control subjects (73 +/- 77 versus 13 +/- 50 pg/ml, p less than 0.05), as was the product of the arteriovenous difference in norepinephrine and coronary blood flow (7.3 +/- 7.3 versus 0.8 +/- 3.0 ng/min, p less than 0.05)

  2. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

  3. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Shiozaki, Afonso Akio; Parga, Jose Rodrigues; Arteaga, Edmundo; Rochitte, Carlos Eduardo; Tassi, Eduardo Marinho

    2007-01-01

    Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiac disease that causes sudden death in young people, with an incidence of 1:500 adults. The routinely used criteria for worst prognosis have limited sensitivity and specificity. Thus, the estimated risk of evolving to dilated cardiomyopathy or sudden death is somewhat inaccurate, leading to management uncertainty of HCM patients. Therefore, an accurate noninvasive method for the diagnosis of HCM with prognostic value is of great importance. In the last years, Cardiovascular Magnetic Resonance (CMR) emerged not only as a diagnostic tool, but also as a study with prognostic values, by characterizing myocardial fibrosis with great accuracy in HCM patients. Additionally, CMR identifies the types of hypertrophy, analyses the ventricular function, estimates the intraventricular gradient and allows the determination of differential diagnosis. Moreover, CMR can uniquely access myocardial fibrosis in HCM. (author)

  4. Myocardial ischemia in hypertrophic cardiomyopathy; Isquemia miocardica na cardiomiopatia hipertrofica

    Energy Technology Data Exchange (ETDEWEB)

    Lima Filho, Moyses de Oliveira; Figueiredo, Geraldo L.; Simoes, Marcus V.; Pyntia, Antonio O.; Marin Neto, Jose Antonio [Sao Paulo Univ., Ribeirao Preto, SP (Brazil). Faculdade de Medicina. Div. de Cardiologia

    2000-08-01

    Myocardial ischemia in hypertrophic cardiomyopathy is multifactorial and explains the occurrence of angina, in about 50% of patients. The pathophysiology of myocardial ischemia may be explained by the increase of the ventricular mass and relative paucity of the coronary microcirculation; the elevated ventricular filling pressures and myocardial stiffness causing a compression of the coronary microvessels; the impaired coronary vasodilator flow reserve caused by anatomic and functional abnormalities; and the systolic compression of epicardial vessel (myocardial bridges). Myocardial ischemia must be investigated by perfusion scintigraphic methods since its presence influences the prognosis and has relevant clinical implications for management of patients. Patients with hypertrophic cardiomyopathy and documented myocardial ischemia usually need to undergo invasive coronary angiography to exclude the presence of concomitant atherosclerotic coronary disease. (author)

  5. Relation between thallium-201/iodine 123-BMIPP subtraction and fluorine 18 deoxyglucose polar maps in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ito, Y; Hasegawa, S; Yamaguchi, H; Yoshioka, J; Uehara, T; Nishimura, T

    2000-01-01

    Clinical studies have shown discrepancies in the distribution of thallium-201 and iodine 123-beta-methyl-iodophenylpentadecanoic acid (BMIPP) in patients with hypertrophic cardiomyopathy (HCM). Myocardial uptake of fluorine 18 deoxyglucose (FDG) is increased in the hypertrophic area in HCM. We examined whether the distribution of a Tl-201/BMIPP subtraction polar map correlates with that of an FDG polar map. We normalized to maximum count each Tl-201 and BMIPP bull's-eye polar map of 6 volunteers and obtained a standard Tl-201/BMIPP subtraction polar map by subtracting a normalized BMIPP bull's-eye polar map from a normalized Tl-201 bull's-eye polar map. The Tl-201/BMIPP subtraction polar map was then applied to 8 patients with HCM (mean age 65+/-12 years) to evaluate the discrepancy between Tl-201 and BMIPP distribution. We compared the Tl-201/BMIPP subtraction polar map with an FDG polar map. In patients with HCM, the Tl-201/BMIPP subtraction polar map showed a focal uptake pattern in the hypertrophic area similar to that of the FDG polar map. By quantitative analysis, the severity score of the Tl-201/BMIPP subtraction polar map was significantly correlated with the percent dose uptake of the FDG polar map. These results suggest that this new quantitative method may be an alternative to FDG positron emission tomography for the routine evaluation of HCM.

  6. Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

    Science.gov (United States)

    Calcagni, Giulio; Adorisio, Rachele; Martinelli, Simone; Grutter, Giorgia; Baban, Anwar; Versacci, Paolo; Digilio, Maria Cristina; Drago, Fabrizio; Gelb, Bruce D; Tartaglia, Marco; Marino, Bruno

    2018-04-01

    RASopathies are a heterogeneous group of genetic syndromes characterized by mutations in genes that regulate cellular processes, including proliferation, differentiation, survival, migration, and metabolism. Excluding congenital heart defects, hypertrophic cardiomyopathy is the most frequent cardiovascular defect in patients affected by RASopathies. A worse outcome (in terms of surgical risk and/or mortality) has been described in a specific subset of Rasopathy patients with early onset, severe hypertrophic cardiomyopathy presenting with heart failure. New short-term therapy with a mammalian target of rapamycin inhibitor has recently been used to prevent heart failure in these patients with a severe form of hypertrophic cardiomyopathy. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy and infiltrative cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Rebecca Schofield

    2016-11-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common inherited cardiac disease. Cardiac imaging plays a key role in the diagnosis and management, with cardiovascular magnetic resonance (CMR an important modality. CMR provides a number of different techniques in one examination: structure and function, flow imaging and tissue characterisation particularly with the late gadolinium enhancement (LGE technique. Other techniques include vasodilator perfusion, mapping (especially T1 mapping and extracellular volume quantification [ECV] and diffusion-weighted imaging with its potential to detect disarray. Clinically, the uses of CMR are diverse. The imaging must be considered within the context of work-up, particularly the personal and family history, Electrocardiogram (ECG and echocardiogram findings. Subtle markers of possible HCM can be identified in genotype positive left ventricular hypertrophy (LVH-negative subjects. CMR has particular advantages for assessment of the left ventricle (LV apex and is able to detect both missed LVH (apical and basal antero-septum, when the echocardiography is normal but the ECG abnormal. CMR is important in distinguishing HCM from both common phenocopies (hypertensive heart disease, athletic adaptation, ageing related changes and rarer pheno and/or genocopies such as Fabry disease and amyloidosis. For these, in particular the LGE technique and T1 mapping are very useful with a low T1 in Fabry’s, and high T1 and very high ECV in amyloidosis. Moreover, the tissue characterisation that is possible using CMR offers a potential role in patient risk stratification, as scar is a very strong predictor of future heart failure. Scar may also play a role in the prediction of sudden death. CMR is helpful in follow-up assessment, especially after septal alcohol ablation and myomectomy.

  8. MT-CYB mutations in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2013-01-01

    Mitochondrial dysfunction is a characteristic of heart failure. Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important...... and m.15482T>C; p.S246P were identified. Modeling showed that the p.C93Y mutation leads to disruption of the tertiary structure of Cytb by helix displacement, interfering with protein-heme interaction. The p.S246P mutation induces a diproline structure, which alters local secondary structure and induces...... of HCM patients. We propose that further patients with HCM should be examined for mutations in MT-CYB in order to clarify the role of these variants....

  9. [Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

    Science.gov (United States)

    Liu, X H; Ding, W W; Han, L; Liu, X R; Xiao, Y Y; Yang, J; Mo, Y

    2017-10-02

    Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes (PTPN11 gene in chromosome 12, RIT1 gene in chromosome 1 and RAF1 gene in chromosome 3) in five cases all had been reported to be related to hypertrophic cardiomyopathy. The reported hypertrophic cardiomyopathy relevant genes MYPN, MYH6 and MYBP3 had also been found in case 1 and 2. Patients with same gene mutation had different clinical manifestations. Both case 4 and 5 had RAF1 mutation (c.770C>T). However, case 4 had special face, low IQ, mild pulmonary artery stenosis, and only mild ventricular hypertrophy. Conclusion: Noonan syndrome is a genetic heterogeneity disease. Our study identified specific gene mutations that could result in Noonan syndrome with hypertrophic cardiomyopathy through molecular biology methods. The results emphasize the importance of gene detection in the management of Noonan syndrome.

  10. Hypertrophic cardiomyopathy with mid-ventricular obstruction and apical aneurysm

    Directory of Open Access Journals (Sweden)

    N.D. Oryshchyn

    2016-11-01

    Full Text Available A case report of apical left ventricular aneurysm in patient with hypertrophic cardiomyopathy with mid-ventricular obstruction (diagnosis and surgical treatment is presented. We revealed apical aneurysm and mid-ventricular obstruction during echocardiography and specified anatomical characteristics of aneurysm during computer tomography. There was no evidence of obstructive coronary artery disease during coronary angiography. Taking into consideration multiple cerebral infarcts, aneurysm resection and left ventricular plastics was performed. Electronic microscopy of myocardium confirmed the diagnosis of hypertrophic cardiomyopathy.

  11. Tacrolimus-related hypertrophic cardiomyopathy in an adult cardiac transplant patient

    Institute of Scientific and Technical Information of China (English)

    LIU Tong; DONG Jian-zeng; GAO Yun; GAO Yu-long; CHENG Yu-tong; WANG Su; LI Zhi-zhong; ZHANG Hai-bo; MENG Xu; MA Chang-sheng

    2012-01-01

    Left ventricular hypertrophy associated with the use of tacrolimus is a rare complication of solid organ transplantation in adult recipients.We present a cardiac transplant recipient who developed severe concentric left ventricular hypertrophy with congestive heart failure related to myocardial hypertrophy on tacrolimus.Hypertrophy improved when the drug was discontinued and replaced with sirolimus.

  12. Syncope in children with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2014-01-01

    Full Text Available Seventy children aged 7 to 17 years with hypertrophic cardiomyopathy (HCM were examined; among them there were 11 syncope patients and 5 presyncope patients. The screening program included standard electrocardiography (ECG, Doppler echocardiogra-phy, 24-hour Holter ECG monitoring, and an incremental exercise testing (Bruce treadmill test. The markers of myocardial electrical instability were determined. In the children with HCM, syncope was established to be heterogeneous; it had an arrhythmogenic origin and, in most cases, occurred in the presence of tachyarrhythmia (44% or bradyarrythmia (25%; its vasovagal genesis was probable in one third of the examinees. The children with syncope were typified by the asymmetric, obstructive form of HCM, at the same tone there was most commonly left ventricular hypertrophy concurrent with left atrial enlargement. 24-hour Holter monitoring showed that bradycardia was prevalent in the patients, 3 patients were found to have more than 2-second cardiac rhythm pauses caused by second-degree atrioventricular block in 1 case or by sick sinus syndrome in 2. Nonsustained ventricular tachycardia was noted in two patients. The children with syncope were typified by the signs of myocardial electrical instability as a reduction in the early phase of heart rate turbulence and by impaired QT/RR interval adaptation as hyperadaptation. The paper presents the developed management tactics for children with syncope and indications for the implantation of a cardioverter defibrillator, a pacemaker, or an ECG loop recorder.

  13. Danon’s disease as a cause of hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common inherited disease of the myocardium. The causes of the disease are heterogeneous; its primary form results from mutations in the genes encoding cardiac sarcomeric proteins; its secondary (metabolic and syndromic forms develop due to mutations in the genes encoding non-sarcomeric proteins. Glycogenosis is the most common cause of the metabolic ones of hypertrophic cardiomyopathy. Danon’s disease (lysosome-associated membrane protein 2 (LAMP2-cardiomyopathy is a form of glycogenosis and it is characterized by a typical triad: hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. The disease occurs with mutations in the LAMP2 gene; X-linked dominant inheritance. LAMP2-cardiomyopathy does not virtually differ in its clinical manifestations from the severe form of hypertrophic cardiomyopathy, which results from mutations in the sarcomeric protein genes. The disease is characterized by a poor progressive course with the high probability of causing sudden death or with the progression of severe heart failure. Implantation of a cardioverter defibrillator is a main method to prevent sudden cardiac death. 

  14. An unusual ST-segment elevation: apical hypertrophic cardiomyopathy shows the ace up its sleeve.

    Science.gov (United States)

    de Santis, Francesco; Pergolini, Amedeo; Zampi, Giordano; Pero, Gaetano; Pino, Paolo Giuseppe; Minardi, Giovanni

    2013-01-01

    Apical hypertrophic cardiomyopathy is part of the broad clinical and morphologic spectrum of hypertrophic cardiomyopathy. We report a patient with electrocardiographic abnormalities in whom acute coronary syndrome was excluded and apical hypertrophic cardiomyopathy was demonstrated by careful differential diagnosis. Copyright © 2012 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  15. Metastases of Hepatocellular Carcinoma Misdiagnosed as Isolated Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Greco, Assunta; De Masi, Roberto; Orlando, Stefania; Metrangolo, Antonio; Zecca, Vittorio; Morciano, Giancarlo; De Donno, Antonella; Bagordo, Francesco; Piccinni, Giancarlo

    At present, cardiac metastasis of hepatocellular carcinoma is rarely mentioned in the literature. We report a hepatocellular carcinoma patient with cardiac metastasis misdiagnosed as hypertrophic cardiomyopathy in 2011. Two years later, on presentation of syncope, an abnormal ventricular septal size was recorded by ultrasound scan, and was subsequently shown by magnetic resonance imaging to be a tumour lesion. A myocardial biopsy confirmed infiltration of hepatocellular carcinoma. This observation underlines the risk of hepatocellular carcinoma cardiac metastasis, manifested in its infiltrative form as hypertrophic cardiomyopathy. In conclusion, we suggest that the ultrasound appearance of hypertrophic cardiomyopathy in hepatocellular carcinoma patients should be seen as a "red flag" and recommend the introduction of magnetic resonance imaging assessment of transplant candidates.

  16. Magnetic resonance imaging in familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion and cardiac enzymes

    Energy Technology Data Exchange (ETDEWEB)

    Nishimura, Tsunehiko; Nagata, Seiki; Sakakibara, Hiroshi

    1988-05-01

    Gated magnetic resonance imaging (MRI) was performed in 6 patients with familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion, and 12 patients with ordinary hypertrophic cardiomyopathy. The patients with ordinary hypertrophic cardiomyopathy and abnormal thickening of the septal wall and normal left ventricular dimensions, while the patients with familial hypertrophic cardiomyopathy had focal wall thinning (usually involving the apical-septal wall) and dilated left ventricle in addition to hypertrophied heart. The quantitative measurement for cardiac dimensions using MRI was similar to that found on echocardiography in all cases. In addition, inhomogeneous signal intensities at left ventricular wall were observed in 3 cases of familial hypertrophic cardiomyopathy, which may suggest the existence of myocardial fibrosis. Gated MRI should be performed for early detection and follow-up of hypertrophic cardiomyopathy, since some patients will progress from hypertrophic cardiomyopathy to dilated cardiomyopathy.

  17. Extent of late gadolinium enhancement at right ventricular insertion points in patients with hypertrophic cardiomyopathy: relation with diastolic dysfunction

    Energy Technology Data Exchange (ETDEWEB)

    Zhu, Yinsu [Seoul National University Hospital, Department of Radiology, Seoul (Korea, Republic of); The First Affiliated Hospital of Nanjing Medical University, Department of Radiology, Nanjing, Jiangsu (China); Park, Eun-Ah; Lee, Whal; Chu, Ajung; Chung, Jin Wook; Park, Jae Hyung [Seoul National University Hospital, Department of Radiology, Seoul (Korea, Republic of); Kim, Hyung-Kwan [Seoul National University Hospital, Division of Cardiology, Department of Internal Medicine, Seoul (Korea, Republic of)

    2015-04-01

    Our aim was to examine the association between the extent of late gadolinium enhancement (LGE) at right ventricular insertion points (RVIP) and left ventricular (LV) functional parameters in patients with hypertrophic cardiomyopathy (HCM). Sixty-one HCM patients underwent echocardiography and cardiovascular magnetic resonance (CMR) within one week. Mitral annular velocities (E/E') were obtained from echocardiography; LV ejection fraction (EF), LV mass index, LV wall maximal thickness, and left atrial volume index (LAVI) were obtained from MR. LGE extent was quantified (proportion of total LV myocardial mass) according to location: % RVIP-LGE and % non-RVIP-LGE. Although LGE was commonly present in both apical (74 %) and non-apical HCMs (88 %) (p = 0.163), RVIP-LGE was more frequent (86 % vs. 47 %, p = 0.002) in non-apical HCMs in which E/E' was significantly higher (19.23 ± 8.40 vs. 13.13 ± 5.06, p = 0.009). In addition, RVIP-LGE extent was associated with LV diastolic dysfunction (r = 0.45, p < 0.001 for E/E'; r = 0.53, p < 0.001 for LAVI) and lower LVEF (r = -0.42, p = 0.001). There was no correlation between non-RVIP-LGE extent and other parameters. Multiple linear regression analysis revealed RVIP-LGE extent as an independent predictor of E/E' (β = 0.45, p < 0.001) and LAVI in HCM patients (β = 0.53, p < 0.001). The extent of LGE at RVIPs in HCM patients is associated with increased estimated LV filling pressure and chronic diastolic burden. (orig.)

  18. Comparison among patients with hypertrophic cardiomyopathy, hypertrophic cardiomyopathy with hypertension and hypertensive heart disease by 123I-BMIPP myocardial scintigraphy

    International Nuclear Information System (INIS)

    Yoneyama, Satoshi; Sugihara, Hiroki; Ito, Kazuki

    1997-01-01

    The usefulness of 123 I-BMIPP myocardial SPECT in discriminating hypertrophic cardiomyopathy (46 patients), hypertrophic cardiomyopathy with hypertension (23 patients), and hypertensive hypertrophic heart (20 patients) was studied. SPECT image was divided into 17 domains, and dimension of decreased accumulation was decided visually at each domain as four classes called defect score (DS). Summation of DS (TDS) of each group was used to compare frequency and dimension of decreased accumulation, and characteristic of each site. Frequency of decreased accumulation and TDS in hypertrophic cardiomyopathy were similar in dimension with those in hypertrophic cardiomyopathy with hypertension, and those data in hypertensive hypertrophic heart were lower than those in above-mentioned 2 groups. In the cases of hypertrophic cardiomyopathy and hypertrophic cardiomyopathy with hypertension, decreased accumulation site was similar and was anterior wall-septum junction, septum-posterior wall junction and apex of heart. In the case of hypertensive hypertrophic heart, decreased accumulation site was only the posterior wall. Frequency, dimension and site of decreased accumulation in hypertrophic cardiomyopathy were different from those in hypertensive hypertrophic heart, and BMIPP was thought to be useful in discriminating these diseases. (K.H.)

  19. Left ventricular function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Takahashi, Hiromi; Yamaguchi, Ryutaro; Ifuku, Masayasu

    1985-01-01

    The present study was to investigate of left ventricular (LV) function during exercise in 26 patients with hypertrophic cardiomyopathy(HCM) usingTc-99m equilibrium angiocardiography, and to elucidate the mechanism of impaired functional reserve during exercise. In patients with HCM, LV ejection fraction decreased from 65 ± 8 (mean ± SD) % at rest to 59 ± 18 % at peak exercise, in contrast to an increase among controls (from 56 ± 9 % to 64 ± 9 %). As compared with resting values, cardiac output increased to 168 ± 24 % at peak exercise in HCM, but the increase was significantly less than that in controls (215 ± 47 %). Stroke volume decreased gradually to 83 ± 16 % during exercise in HCM, while it increased to 114 ± 10 % at an exercise level of half intensity, and it decreased slightly to 106 ± 16 % at peak exercise. LV end-systolic volume decreased among controls to 78 ± 27 % at peak exercise, but remained unchanged in HCM (118 ± 58 %). An increase in peak ejection rate at peak exercise was less in HCM than in controls (143 ± 26 % vs 170 ± 42 %). No significant differences were observed between the two groups concerning changes in indices of LV diastolic function including LV end-diastolic volume, peak filling rate or 1/3 filling rate during exercise. In the analysis of LV function curves, pulmonary arterial diastolic pressure increased to a greater extent in HCM than in controls (19 ± 6 mmHg vs 11 ± 6 mmHg); whereas, an increase in the stroke work index was less in HCM (80 ± 26 g.m/m 2 /beat vs 121 ± 21 g.m/m 2 /beat) at peak exercise. Thus, the LV function curve shifted downward and to the right in patients with HCM. The above findings indicate that LV functional reserve during exercise is impaired, especially as to systolic function in patients with HCM, while deterioration of diastolic function may be partly compromised by elevated filling pressure. (J.P.N.)

  20. Penetrance of Hypertrophic Cardiomyopathy in Children Who Are Mutation Positive

    NARCIS (Netherlands)

    Vermeer, Alexa M. C.; Clur, Sally-Ann B.; Blom, Nico A.; Wilde, Arthur A. M.; Christiaans, Imke

    2017-01-01

    Objectives To investigate the presence of hypertrophic cardiomyopathy (HCM) at first cardiac evaluation and during follow-up and cardiac events in predictively tested children who are mutation positive. Study design The study included 119 predictively tested children who were mutation positive, with

  1. Hypertrophic cardiomyopathy in infants: clinical features and natural history

    International Nuclear Information System (INIS)

    Maron, B.J.; Tajik, A.J.; Ruttenberg, H.D.; Graham, T.P.; Atwood, G.F.; Victorica, B.E.; Lie, J.T.; Roberts, W.C.

    1982-01-01

    The clinical and morphologic features of hypertrophic cardiomyopathy in 20 patients recognized as having cardiac disease in the first year of life are described. Fourteen of these 20 infants were initially suspected of having heart disease solely because a heart murmur was identified. However, the infants showed a variety of clinical findings, including signs of marked congestive heart failure (in the presence of nondilated ventricular cavities and normal or increased left ventricular contractility) and substantial cardiac enlargement on chest radiograph. Other findings were markedly different from those usually present in older children and adults with hypertrophic cardiomyopathy (e.g., right ventricular hypertrophy on the ECG and cyanosis). Consequently, in 14 infants, the initial clinical diagnosis was congenital cardiac malformation other than hypertrophic cardiomyopathy. The clinical course was variable in these patients, but the onset of marked congestive heart failure in the first year of life appeared to be an unfavorable prognostic sign; nine of the 11 infants with congestive heart failure died within the first year of life. In infants with hypertrophic cardiomyopathy, unlike older children and adults with this condition, sudden death was less common (two patients) than death due to progressive congestive heart failure

  2. The Portuguese Registry of Hypertrophic Cardiomyopathy: Overall results.

    Science.gov (United States)

    Cardim, Nuno; Brito, Dulce; Rocha Lopes, Luís; Freitas, António; Araújo, Carla; Belo, Adriana; Gonçalves, Lino; Mimoso, Jorge; Olivotto, Iacopo; Elliott, Perry; Madeira, Hugo

    2018-01-01

    We report the results of the Portuguese Registry of Hypertrophic Cardiomyopathy, an initiative that reflects the current spectrum of cardiology centers throughout the territory of Portugal. A direct invitation to participate was sent to cardiology departments. Baseline and outcome data were collected. A total of 29 centers participated and 1042 patients were recruited. Four centers recruited 49% of the patients, of whom 59% were male, and mean age at diagnosis was 53±16 years. Hypertrophic cardiomyopathy (HCM) was identified as familial in 33%. The major reason for diagnosis was symptoms (53%). HCM was obstructive in 35% of cases and genetic testing was performed in 51%. Invasive septal reduction therapy was offered to 8% (23% of obstructive patients). Most patients (84%) had an estimated five-year risk of sudden death of <6%. Thirteen percent received an implantable cardioverter-defibrillator. After a median follow-up of 3.3 years (interquartile range [P25-P75] 1.3-6.5 years), 31% were asymptomatic. All-cause mortality was 1.19%/year and cardiovascular mortality 0.65%/year. The incidence of heart failure-related death was 0.25%/year, of sudden cardiac death 0.22%/year and of stroke-related death 0.04%/year. Heart failure-related death plus heart transplantation occurred in 0.27%/year and sudden cardiac death plus equivalents occurred in 0.53%/year. Contemporary HCM in Portugal is characterized by relatively advanced age at diagnosis, and a high proportion of invasive treatment of obstructive forms. Long-term mortality is low; heart failure is the most common cause of death followed by sudden cardiac death. However, the burden of morbidity remains considerable, emphasizing the need for disease-specific treatments that impact the natural history of the disease. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Echocardiography Differences Between Athlete's Heart Hearth and Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Kreso, Amir; Barakovic, Fahir; Medjedovic, Senad; Halilbasic, Amila; Klepic, Muhamed

    2015-10-01

    Among long term athletes there is always present hypertrophy of the left ventricle walls as well as increased cardiac mass. These changes are the result of the heart muscle adaptation to load during the years of training, which should not be considered as pathology. In people suffering from hypertrophic cardiomyopathy (HCM), there is also present hypertrophy of the left ventricle walls and increased mass of the heart, but these changes are the result of pathological changes in the heart caused by a genetic predisposition for the development HCM of. Differences between myocardial hypertrophy in athletes and HCM are not clearly differentiated and there are always dilemmas between pathological and physiological hypertrophy. The goal of the study is to determine and compare the echocardiographic cardiac parameters of longtime athletes to patients with hypertrophic cardiomyopathy. The study included 60 subjects divided into two groups: active athletes and people with hypertrophic cardiomyopathy. Mean values of IVSd recorded in GB is IVSd=17.5 mm (n=20, 95% CI, 16.00-19.00 mm), while a significantly smaller mean value is recorded in GA, IVSd=10.0 mm (n=40, 95% CI, 9.00-11.00 mm). The mean value of the left ventricle in diastole (LVDd) recorded in the GA is LVDd=51 mm (n=40; 95% CI, 48.00 to 52.00 mm), while in the group with hypertrophic cardiomyopathy (GB) mean LVDd value is 42 mm (n=20; 95% CI, 40.00 to 48.00 mm). The mean value of the rear wall of the left ventricle (LVPWd) recorded in the GA is LVDd=10 mm (n=40; 95% CI, 9.00-10.00 mm) while in the group with hypertrophic cardiomyopathy (GB) mean LVDd is 14 mm (n=20; 95% CI, 12.00 to 16.00 mm). The mean of the left ventricle during systole (LVSD) observed in GA is LVSD=34 mm (n=40; 95% CI, 32.00 to 36.00 mm), while in the group with hypertrophic cardiomyopathy (GB) mean LVSD is 28 mm (n=20; 95% CI, 24.00 to 28.83 mm). The mean ejection fraction (EF%) observed in GA is EF=60% (n=40; 95% CI, 56.41 to 63.00%), while in

  4. Clinical Features and Echocardiographic Findings in Children with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Cristina Blesneac

    2013-12-01

    Full Text Available Background: Hypertrophic cardiomyopathy, one of the most common inherited cardiomyopathies, is a heterogeneous disease resulting from sarcomeric protein mutations, with an incidence in the adult population of 1:500. Current information on the epidemiology and outcomes of this disease in children is limited. Methods: Thirty-four children diagnosed with hypertrophic cardiomyopathy in the Pediatric Cardiology Department from Tîrgu Mureș were evaluated concerning familial and personal history, clinical, paraclinical and therapeutic aspects. Hypertrophic cardiomyopathy was defined by the presence of a hypertrophied, non-dilated ventricle, in the absence of a cardiac or systemic disease that could produce ventricular hypertrophy. Results: The youngest diagnosed child was a neonate, a total of 10 patients being diagnosed until 1 year of age. In 6 cases a positive familial history was found. Noonan syndrome was found in 2 cases. Only 21 patients were symptomatic, the predominant symptoms being shortness of breath on exertion with exercise limitations. Left ventricular outflow tract obstruction was present in 21 cases (61.7%. Twenty-four patients were on β-blocking therapy, while 4 patients underwent septal myectomy. Conclusions: Hypertrophic cardiomyopathy is a heterogeneous disorder in terms of evolution, age of onset, type and extent of hypertrophy, and the risk of sudden death. It can affect children of any age. There is a need for a complex evaluation, including familial and personal anamnesis, clinical examination, electrocardiogram and echocardiography of all patients. It is highly important to develop screening strategies, including genetic testing, for an early diagnosis, especially in asymptomatic patients with a positive familial background

  5. Evaluation of left cardiac function by exercise in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Konishi, Tokuji; Horayama, Norihisa; Hamada, Masayuki; Nakano, Takeshi; Takezawa, Hideo

    1981-01-01

    Left ventricular systolic and diastolic features at rest and exercise in hypertrophic cardiomyopathy were evaluated by Fourier analysis of blood pool scintigraphy (intracorporeal labelling with sup(99m)Tc-RBC). In the normal group (17 subjects), the left ventricular ejection fraction showed a linear increase, but no abnormality of regional ventricular wall motion, by multistage exercises. The hypertrophic cardiomyopathy group showed higher left ventricular ejection fractions at rest than those of the normal group, and in the HCM group (non-obstructive, from morphological features; 7 cases) the left ventricular ejection fraction did not increase any more when it reached a certain plateau in accordance with increased stress. In the HOCM (obstructive; 5 cases), the left ventricular ejection fraction showed a decreasing tendency as the stress was increased and also showed contractile abnormalities from the left ventricular center to the apex. Fourier analysis was effective for the evaluation of these changes. (Chiba, N.)

  6. Myocardial metabolic abnormalities in hypertrophic cardiomyopathy assessed by iodine-123-labeled beta-methyl-branched fatty acid myocardial scintigraphy and its relation to exercise-induced ischemia

    International Nuclear Information System (INIS)

    Matsuo, Shinro; Nakamura, Yasuyuki; Takahashi, Masayuki; Mitsunami, Kenichi; Kinoshita, Masahiko

    1998-01-01

    Reversible thallium-201 ( 201 Tl) abnormalities during exercise stress have been used as markers of myocardial ischemia in hypertrophic cardiomyopathy (HCM) and are most likely to identify relatively underperfused myocardium. Although metabolic abnormalities in HCM were reported, the relationship between impaired energy metabolism and exercise-induced ischemia has not been fully elucidated as yet. To assess the relationship between myocardial perfusion abnormalities and fatty acid metabolic abnormalities, 28 patients with HCM underwent exercise 201 Tl and rest 123 I-15-(p-iodophenyl)-3-methyl pentadecanoic acid (BMIPP) scintigraphy. Perfusion abnormalities were observed by exercise 201 Tl in 19/28 patients with HCM. 123 I-BMIPP uptake was decreased compared with delayed 201 Tl in 106/364 (29%) of the total myocardial segments (p 123 I-BMIPP and 201 Tl was observed more often in the 49/75 (65%) segments with reversible exercise 201 Tl defects (p 123 I-BMIPP and 201 Tl suggests that myocardial ischemia may play an important role in metabolic abnormalities in HCM. (author)

  7. Characteristics of hypertrophic cardiomyopathy on delayed contrast-enhanced MRI

    International Nuclear Information System (INIS)

    Yan Chaowu; Zhao Shihua; Li Hua; Jiang Shiliang; Lu Minjie; Zhang Yan; Wei Yunqing; Ling Jian; Fang Wei

    2010-01-01

    Objective: To analyze the characteristics of hypertrophic cardiomyopathy (HCM) on delayed contrast-enhanced cardiac magnetic resonance imaging (CMRI). Methods: All patients underwent delayed contrast-enhanced CMRI. The left ventricle was divided into 9 segments to assess the location, extent and function of the hypertrophic segments. The t test was applied for the statistics. Results: Of 154 patients, delayed enhancement of' hypertrophic segment was found in 95 cases and non-delayed enhancement in 59 cases. The thickness and number of hypertrophic segment in patients with delayed enhancement were larger than those with non-delayed enhancement [(24.8±5.5) mm vs (20.4± 3.8) mm, t=3.82, P<0.05; (3.3±1.9) vs (2.4±1.7), t=2.26, P<0.05], and the age was younger [(46.0±15.2) years vs (55.0±11.9) years, t=-3.67, P<0.05]. The diffuse enhancement was found in 62 patients, and confluent enhancement in 33 patients. Confluent enhancement was found in all 14 patients after the alcohol ablation procedure. Conclusion: The age, thickness and number of hypertrophic segments in patients with delayed enhancement are different from those with non-delayed enhancement. (authors)

  8. T-wave inversions related to left ventricular basal hypertrophy and myocardial fibrosis in non-apical hypertrophic cardiomyopathy: A cardiovascular magnetic resonance imaging study

    Energy Technology Data Exchange (ETDEWEB)

    Chen, Xiuyu, E-mail: cxy0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Zhao, Shihua, E-mail: zhaoshihua0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Zhao, Tao, E-mail: taozhao0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Lu, Minjie, E-mail: lmjkan@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Yin, Gang, E-mail: gangyin0202@126.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Jiang, Shiliang, E-mail: jiangsl-2011@163.com [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037 (China); Prasad, Sanjay, E-mail: s.prasad@rbht.nhs.uk [NIHR Biomedical Research Unit, Royal Brompton Hospital Sydney Street, London, SW3 6NP (United Kingdom)

    2014-02-15

    Objectives: To investigate the relationship between T-wave inversions and left ventricular (LV) segmental hypertrophy and myocardial fibrosis assessed by cardiovascular magnetic resonance (CMR) in patients with non-apical hypertrophic cardiomyopathy (HCM). Methods: 196 consecutive patients with non-apical HCM underwent late gadolinium enhancement (LGE) CMR and 12-lead electrocardiogram. The distribution and magnitude of LV segmental hypertrophy and LGE were assessed according to the AHA 17-segment model and analyzed in relation to T-wave inversions. Results: Of 196 HCM patients, 144 (73%) exhibited T-wave inversions. 144 (73%) patients had evidence of myocardial fibrosis as defined by LGE, and the prevalence of LGE was significantly higher in patients with T-wave inversions compared with those without T-wave inversions (78% vs. 59%, P = 0.008). T-wave inversions were related to basal anterior and basal anteroseptal LGE (20% vs. 10%, P = 0.04 and 68% vs. 46%, P = 0.005, respectively). In addition, T-wave inversions were associated with greater basal anteroseptal and basal inferior wall thickness (19.5 ± 4.7 mm vs. 16.7 ± 4.5 mm, P < 0.001 and 10.9 ± 3.3 mm vs. 9.6 ± 3.0 mm, P = 0.01, respectively). By logistic regression analysis, basal anteroseptal wall thickness and LGE were independent determinants of T-wave inversions (P = 0.005, P = 0.01, respectively). Conclusions: T-wave inversions in HCM are associated with LGE and wall thickness of the left ventricular basal segments. Moreover, basal anteroseptal wall thickness and LGE are independent determinants of T-wave inversions.

  9. T-wave inversions related to left ventricular basal hypertrophy and myocardial fibrosis in non-apical hypertrophic cardiomyopathy: A cardiovascular magnetic resonance imaging study

    International Nuclear Information System (INIS)

    Chen, Xiuyu; Zhao, Shihua; Zhao, Tao; Lu, Minjie; Yin, Gang; Jiang, Shiliang; Prasad, Sanjay

    2014-01-01

    Objectives: To investigate the relationship between T-wave inversions and left ventricular (LV) segmental hypertrophy and myocardial fibrosis assessed by cardiovascular magnetic resonance (CMR) in patients with non-apical hypertrophic cardiomyopathy (HCM). Methods: 196 consecutive patients with non-apical HCM underwent late gadolinium enhancement (LGE) CMR and 12-lead electrocardiogram. The distribution and magnitude of LV segmental hypertrophy and LGE were assessed according to the AHA 17-segment model and analyzed in relation to T-wave inversions. Results: Of 196 HCM patients, 144 (73%) exhibited T-wave inversions. 144 (73%) patients had evidence of myocardial fibrosis as defined by LGE, and the prevalence of LGE was significantly higher in patients with T-wave inversions compared with those without T-wave inversions (78% vs. 59%, P = 0.008). T-wave inversions were related to basal anterior and basal anteroseptal LGE (20% vs. 10%, P = 0.04 and 68% vs. 46%, P = 0.005, respectively). In addition, T-wave inversions were associated with greater basal anteroseptal and basal inferior wall thickness (19.5 ± 4.7 mm vs. 16.7 ± 4.5 mm, P < 0.001 and 10.9 ± 3.3 mm vs. 9.6 ± 3.0 mm, P = 0.01, respectively). By logistic regression analysis, basal anteroseptal wall thickness and LGE were independent determinants of T-wave inversions (P = 0.005, P = 0.01, respectively). Conclusions: T-wave inversions in HCM are associated with LGE and wall thickness of the left ventricular basal segments. Moreover, basal anteroseptal wall thickness and LGE are independent determinants of T-wave inversions

  10. HYPERTROPHIC CARDIOMYOPATHY AS A PART OF INHERITED MALFORMATION SYNDROMES IN INFANTS

    Directory of Open Access Journals (Sweden)

    M.V. Tural'chuk

    2011-01-01

    Full Text Available The data of clinical and instrumental examination of two infantile patients with obstructive hypertrophic cardiomyopathy in association with marked multisystem involvement as a picture of inherited malformation syndromes are given.Key words: infants, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome.(Voprosy sovremennoi pediatrii — Current Pediatrics. 2011; 10 (3: 166–169

  11. Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Lars A. Dejgaard

    2017-12-01

    Full Text Available Data presented in this paper are supplementary material to our study “Vigorous exercise in patients with hypertrophic cardiomyopathy” [1]. The current article presents supplementary data on collection and analyses of exercise parameters and genetic data in the original research article. Keywords: Hypertrophic cardiomyopathy, Exercise, Genetics, Arrhythmia

  12. Survival and sudden cardiac death after septal ablation for hypertrophic obstructive cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten Kvistholm; Havndrup, Ole; Hassager, Christian

    2011-01-01

    Reports of long-term survival and the risk of sudden cardiac death (SCD) after percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) are sparse.......Reports of long-term survival and the risk of sudden cardiac death (SCD) after percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) are sparse....

  13. Evaluation of the diagnosis for hypertrophic cardiomyopathy (HCM) with SPECT

    International Nuclear Information System (INIS)

    Li Jiaxiu

    1992-01-01

    A heart phantom-7070 was used to measure the wall thickness of cardiac chambers. Two methods were employed: (1) profile curve measurement, (2) calculation of the thickness of cardiac walls. 9 normal cases and 13 patients with hypertrophic cardiomyopathy were studied using 99m Tc-CDI SPECT. 4 patterns were obtained: (1) Local hypertrophy of ventricular septum; (2) The predominant hypertrophy localized in left ventricular lateral wall; (3) Markedly hypertrophied septum and also involving left ventricular walls, especially the apical region; (4) Markedly hypertrophied papillary muscles with perfusion defects in the left wall and septum. These results suggest that myocardial SPECT is a promising and noninvasive method for the diagnosis of HCM

  14. The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

    DEFF Research Database (Denmark)

    Hedley, Paula L; Haundrup, Ole; Andersen, Paal S

    2011-01-01

    The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere...... as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic...

  15. Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease primarily caused by mutations in genes coding for sarcomeric proteins. A molecular-genetic etiology can be established in ~60% of cases. Evolutionarily conserved mitochondrial DNA (mtDNA) haplogroups are susceptibility factors for HCM......>G, and MT-CYB: m.15024G>A, p.C93Y remained. A detailed analysis of these variants indicated that none of them are likely to cause HCM. In conclusion, private mtDNA mutations are frequent, but they are rarely, if ever, associated with HCM....

  16. Myoadenylate deaminase deficiency, hypertrophic cardiomyopathy and gigantism syndrome.

    Science.gov (United States)

    Skyllouriotis, M L; Marx, M; Bittner, R E; Skyllouriotis, P; Gross, M; Wimmer, M

    1997-07-01

    We report a 20-year-old man with gigantism syndrome, hypertrophic cardiomyopathy, muscle weakness, exercise intolerance, and severe psychomotor retardation since childhood. Histochemical and biochemical analysis of skeletal muscle biopsy revealed myoadenylate deaminase deficiency; molecular genetic analysis confirmed the diagnosis of primary (inherited) myoadenylate deaminase deficiency. Plasma, urine, and muscle carnitine concentrations were reduced. L-Carnitine treatment led to gradual improvement in exercise tolerance and cognitive performance; plasma and tissue carnitine levels returned to normal, and echocardiographic evidence of left ventricular hypertrophy disappeared. The combination of inherited myoadenylate deaminase deficiency, gigantism syndrome and carnitine deficiency has not previously been described.

  17. Effect of Body Mass Index on Exercise Capacity in Patients With Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Larsen, Carolyn M; Ball, Caroline A; Hebl, Virginia B; Ong, Kevin C; Siontis, Konstantinos C; Olson, Thomas P; Ackerman, Michael J; Ommen, Steve R; Allison, Thomas G; Geske, Jeffrey B

    2018-01-01

    The objective of this study was to evaluate the relation between body mass index (BMI), exercise capacity, and symptoms in patients with hypertrophic cardiomyopathy (HC) and to utilize results of cardiopulmonary exercise tests (CPX) and transthoracic echocardiograms to understand the mechanism(s) of reduced exercise capacity across body mass index groups. Over a 6-year period, 510 consecutive patients with HC seen at a tertiary referral center underwent (CPX) and a transthoracic echocardiogram. Increasing BMI was associated with decreased exercise capacity as assessed by peak VO 2 (ml/kg/min). However, the prevalence of cardiac impairment did not vary by BMI group. In conclusion, these findings suggest that in some patients with hypertrophic cardiomyopathy, cardiac impairment is not the primary cause of exercise limitation and weight loss may result in improved exercise capacity. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Symmetric Dimethylarginine in Cats with Hypertrophic Cardiomyopathy and Diabetes Mellitus

    DEFF Research Database (Denmark)

    Langhorn, R.; Kieler, I. N.; Koch, J.

    2018-01-01

    Background: Symmetric dimethylarginine (SDMA) has been increasingly used as a marker of early chronic kidney disease (CKD) in cats, but little is known about the influence of comorbidities on SDMA in this species. Hypothesis: Hypertrophic cardiomyopathy (HCM) and diabetes mellitus (DM), independe......Background: Symmetric dimethylarginine (SDMA) has been increasingly used as a marker of early chronic kidney disease (CKD) in cats, but little is known about the influence of comorbidities on SDMA in this species. Hypothesis: Hypertrophic cardiomyopathy (HCM) and diabetes mellitus (DM......), independently of CKD, are associated with changes in serum SDMA. Animals: Ninety-four cats (17 with CKD, 40 with HCM, 17 with DM, and 20 healthy controls). Methods: Case-control study. Clinical examination, echocardiography, ECG, blood pressure, CBC, biochemistry, thyroxine, and SDMA measurement were performed....... Urinalysis was performed in controls and cats with CKD and DM. Analysis of variance was used to compare overall differences in the log-transformed SDMA data among groups. A random forest algorithm was applied to explore which clinical and other factors influenced serum SDMA. Results: Median (range) serum...

  19. Biventricular / Left Ventricular Pacing in Hypertrophic Obstructive Cardiomyopathy: An Overview

    Directory of Open Access Journals (Sweden)

    Radu Vatasescu, MD

    2012-05-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is an autosomal dominant inherited genetic disease characterized by compensatory pathological left ventricle (LV hypertrophy due to sarcomere dysfunction. In an important proportion of patients with HCM, the site and extent of cardiac hypertrophy results in severe obstruction to LV outflow tract (LVOT, contributing to disabling symptoms and increasing the risk of sudden cardiac death (SCD. In patients with progressive and/or refractory symptoms despite optimal pharmacological treatment, invasive therapies that diminish or abolish LVOT obstruction relieve heart failure-related symptoms, improve quality of life and could be associated with long-term survival similar to that observed in the general population. The gold standard in this respect is surgical septal myectomy, which might be supplementary associated with a reduction in SCD. Percutaneous techniques, particularly alcohol septal ablation (ASA and more recently radiofrequency (RF septal ablation, can achieve LVOT gradient reduction and symptomatic benefit in a large proportion of HOCM patients at the cost of a supposedly limited septal myocardial necrosis and a 10-20% risk of chronic atrioventricular block. After an initial period of enthusiasm, standard DDD pacing failed to show in randomized trials significant LVOT gradient reductions and objective improvement in exercise capacity. However, case reports and recent small pilot studies suggested that atrial synchronous LV or biventricular (biV pacing significantly reduce LVOT obstruction and improve symptoms (acutely as well as long-term in a large proportion of severely symptomatic HOCM patients not suitable to other gradient reduction therapies. Moreover, biV/LV pacing in HOCM seems to be associated with significant LV reverse remodelling.

  20. Decreased coronary reserve in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Yamaguchi, Ryutaro

    1987-01-01

    To assess coronary flow reserve in patients with hypertrophic cardiomyopathy (HCM), split dose thallium-201 dipyridamole (DP) myocardial scintigraphy was performed. Subjects included 30 HCM patients with asymmetric septal hypertrophy and normal coronary angiogram, 10 hypertensive patients with left ventricular hypertrophy (posterior wall thickness ≥ 15 mm) and 13 healthy controls. Coronary reserve index (CRI) was calculated as a ratio of myocardial thallium uptake after dipyridamole (0.5 mg/kg) to the baseline value. HCM patients showed a significantly lower CRI (177 %) as compared with controls (281 %) or hypertensive patients (214 %), and 17 of them had abnormally decreased CRI below the normal range (mean-2SD of controls). These HCM patients with abnormal CRI showed significantly more frequent family histrory of HCM (71 vs 31 %), and a greater degree of systolic narrowing of the septal perforator as compared with those normal CRI. Maximal work loads were significantly lower (82 vs 106 watts) in those with abnormal CRI, 31 % developed ST depression at 80 watts. However, patients with abnormal CRI did not differ from those with normal CRI in septal and posterior wall thickness, left ventricular end-diastolic pressure, and in the degree of systolic narrowing of the left anterior descending artery. In the segmental CRI analysis, 13 HCM patients showed abnormal CRI in the septal and/or apical segments, while 8 patients presented diffuse CRI decrease, including the non-hypertrophied posterior segment. These findings indicate that 57 % of HCM patients have impaired coronary vasodilatory reserve, which may not only be a consequence of left ventricular hypertrophy, elevated left ventricular end-diastolic pressure, and systolic narrowing of the coronary artery, but may be related to small vessel coronary disease. (J.P.N.)

  1. Determinants of myocardial energetics and efficiency in symptomatic hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Timmer, Stefan A.J.; Germans, Tjeerd; Goette, Marco J.W.; Ruessel, Iris K.; Dijkmans, Pieter A.; Knaapen, Paul; Rossum, Albert C. van; Lubberink, Mark; Lammertsma, Adriaan A.; Berg, Jurrien M. ten; Cate, Folkert J. ten

    2010-01-01

    Next to hypertrophy, hypertrophic cardiomyopathy (HCM) is characterized by alterations in myocardial energetics. A small number of studies have shown that myocardial external efficiency (MEE), defined by external work (EW) in relation to myocardial oxidative metabolism (MVO 2 ), is reduced. The present study was conducted to identify determinants of MEE in patients with HCM by use of dynamic positron emission tomography (PET) and cardiovascular magnetic resonance imaging (CMR). Twenty patients with HCM (12 men, mean age: 55.2 ± 13.9 years) and 11 healthy controls (7 men, mean age: 48.1 ± 10 years) were studied with [ 11 C]acetate PET to assess MVO 2 . CMR was performed to determine left ventricular (LV) volumes and mass (LVM). Univariate and multivariate analyses were employed to determine independent predictors of myocardial efficiency. Between study groups, MVO 2 (controls: 0.12 ± 0.04 ml.min -1 .g -1 , HCM: 0.13 ± 0.05 ml.min -1 .g -1 , p = 0.64) and EW (controls: 9,139 ± 2,484 mmHg.ml, HCM: 9,368 ± 2,907 mmHg.ml, p = 0.83) were comparable, whereas LVM was significantly higher (controls: 99 ± 21 g, HCM: 200 ± 76 g, p 2 -terminal pro-brain natriuretic peptide (NT-proBNP) and serum free fatty acid levels (all p 2 , impaired EW generation per gram of myocardial tissue and subsequent deteriorated myocardial efficiency. Mechanical external efficiency could independently be predicted by SV and LVM. (orig.)

  2. Efficacy of Gd-DTPA-enhanced MRI in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Okamoto, Shinya; Aoki, Toshikazu; Konishi, Tokuji; Nakano, Takeshi; Yamakado, Kyoichiro; Sakuma, Hajime; Takeda, Kann; Nakagawa, Takashi

    1991-01-01

    The cabability of magnetic resonance (MR) imaging to detect tissue characterization or myocardial degeneration process of the hypertrophied myocardium was evaluated in 15 patients with hypertrophic cardiomyopathy. T1-weighted MR images were obtained with a 1.5 T MR unit by using ECG-gated spin-echo techniques. MR images were visually reviewed before and after enhancement of Gd-DTPA. Four patients had an increase in signal intensity mainly in the endocardium of the left ventricular septum on non-enhanced MR images, 3 of whom had widespread high intensity in addition to two-thirds of the wall. Gd-DTPA enhanced-MR images showed high intensity over the whole septum in 5 patients and also in the antero-lateral endocardium in 4 patients. Decreased intensity on non-enhanced MR images, as shown in 4 patients, became clear on enhanced-MR images. According to findings on enhanced-MR images, signal intensity was defined as normal (N), septum (S), and diffuse (D). Patients in Group D tended to be younger and have more frequently family history. Regarding both interventricular septum thickness and left ventricular posterior wall thickness, there was no significant difference among the three groups. Both left ventricular diastolic diameter and left ventricular systolic diameter were significantly larger in Group D than the other two groups. Left ventricular ejection fraction was significantly lower in both Group S and Group D. Widespread abnormal intensity on Gd-DTPA enhanced MR images was associated with findings similar to dilated cardiomyopathy, such as dilated left ventricular lumen and decreased ejection fraction. Gd-DTPA enhanced MR imaging seemed to be useful for visualizing myocardial degeneration in hypertrophic cardiomyopathy.(N.K.)

  3. Lysosome-associated hypertrophic cardiomyopathy (Danon's disease in two siblings

    Directory of Open Access Journals (Sweden)

    I. V. Leontyeva

    2015-01-01

    Full Text Available The paper presents a clinical observation of two siblings with Danon's disease (lysosome-associated cardiomyopathy verified by genetic examination. Heart lesion in Danon's disease bears a phenotypic similarity to the primary forms of hypertrophic cardiomyopathy; in this connection the correct etiology of the disease has remained long unestablished. The presence of laboratory markers as the significantly raised levels of transaminases, creatine phosphokinase, and lactate dehydrogenase was as a guide for suspecting the metabolic origin of the disease. Two siblings with a similar LAMP gene mutation were observed to have a different clinical course: a severer clinical course of cardiomyopathy with extreme myocardial hypertrophy, myocardial electric instability, and mental development retardation in one case and a more favorable course in the other; although a 2-year follow-up also revealed negative changes. For the prevention of sudden cardiac death, a cardioverter defibrulator was implanted and continuous therapy with p-adrenoblockers was performed. The specific feature of the cases was no symptoms of skeletal myopathy, moderate mental retardation only in the elder brother, no evidence of an accessory atrioventricular junction despite the fact that there were ECG manifestations of Wolff-Parkinson-White syndrome

  4. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

    DEFF Research Database (Denmark)

    Andersen, Paal Skytt; Havndrup, Ole; Hougs, Lotte

    2008-01-01

    persons. Index patients were screened for mutations in all coding regions of 10 sarcomere genes (MYH7, MYL3, MYBPC3, TNNI3, TNNT2, TPM1, ACTC, CSRP3, TCAP, and TNNC1) and five exons of TTN. Relatives were screened for presence of minor or major diagnostic criteria for HCM and tracking of DNA variants...

  5. Genetics Home Reference: familial hypertrophic cardiomyopathy

    Science.gov (United States)

    ... how mutations in sarcomere-related genes lead to hypertrophy of the heart muscle and problems with heart rhythm. The mutations may ... affected individuals, contraction and relaxation of the heart muscle is abnormal, even before hypertrophy develops. However, it is not clear how these ...

  6. Various manifestations of hypertrophic cardiomyopathy on ultrafast computed tomography

    International Nuclear Information System (INIS)

    Sekiya, Tohru; Karikomi, Masahito; Ohshiro, Masaya; Iwakami, Masayoshi; Takamoto, Toshihiko; Sakamoto, Tsuguya

    1992-01-01

    Ultrafast computed tomography was performed in 30 patients with hypertrophic cardiomyopathy and images were assessed on variability of left ventricular hypertrophy, the pattern of left ventricular contraction, right ventricular hypertrophy, dilatation of the left atrium, and thickening of the mitral valve. Fifteen (50.0%) of 30 patients had asymmetric septal hypertrophy, six (20.0%) had diffuse hypertrophy, and nine (30.0%) had apical hypertrophy. In eleven patients with asymmetric septal hypertrophy and two with apical hypertrophy, non-hypertrophied segments in end-diastole showed vigorous contraction. Sixteen patients showed homogeneous left ventricular contraction and one showed partial apical contraction. Right ventricular hypertrophy was noted in 12 patients (40.0%), dilatation of the left atrium in 13 patients (43.3%), and mitral valve thickening in three (10.0%). Ultrafast computed tomography was useful in the evaluation of apical hypertrophy and right ventricular hypertrophy, which could be difficult to obtain by echocardiography. (author)

  7. Serious arrhythmias in patients with apical hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Okishige, Kaoru; Sasano, Tetsuo; Yano, Kei; Azegami, Kouji; Suzuki, Kou; Itoh, Kuniyasu [Yokohama Red Cross Hospital (Japan)

    2001-05-01

    We report cases of serious arrhythmias associated with apical hypertrophic cardiomyopathy (AHCM). Thirty-one patients were referred to our institute to undergo further assessment of their AHCM from 1988 to 1999. Three patients with nonsustained ventricular tachycardia demonstrated an {sup 123}I-MIBG regional reduction in the tracer uptake. In two patients with ventricular fibrillation (VF), the findings from {sup 123}I-MIBG imaging revealed regional sympathetic denervation in the inferior and lateral regions. Electrophysiologic study demonstrated reproducible induction of VF in aborted sudden death and presyncopal patients, resulting in the need for an implantable defibrillator device and amiodarone in each patient. Patients with refractory atrial fibrillation with a rapid ventricular response suffered from serious congestive heart failure. A prudent assessment and strategy in patients with this disease would be indispensable in avoiding a disastrous outcome. (author)

  8. Hypertrophic cardiomyopathy: a heart in need of an energy bar?

    Directory of Open Access Journals (Sweden)

    Styliani eVakrou

    2014-08-01

    Full Text Available Hypertrophic cardiomyopathy (HCM has been recently recognized as the most common inherited cardiovascular disorder, affecting 1 in 500 adults worldwide. HCM is characterized by myocyte hypertrophy resulting in thickening of the ventricular wall, myocyte disarray, interstitial and/or replacement fibrosis, decreased ventricular cavity volume and diastolic dysfunction. HCM is also the most common cause of sudden death in the young. A large proportion of patients diagnosed with HCM have mutations in sarcomeric proteins. However, it is unclear how these mutations lead to the cardiac phenotype, which is variable even in patients carrying the same causal mutation. Abnormalities in calcium cycling, oxidative stress, mitochondrial dysfunction and energetic deficiency have been described, constituting the basis of therapies in experimental models of HCM and HCM patients. This review focuses on evidence supporting the role of cellular metabolism and mitochondria in HCM.

  9. Cardiac symptoms before sudden cardiac death caused by hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Lynge, Thomas Hadberg; Risgaard, Bjarke; Jabbari, Reza

    2016-01-01

    AIMS: Hypertrophic cardiomyopathy (HCM) is a frequent cause of sudden cardiac death (SCD) among the young (SCDY). The aim of this study was to characterize symptoms before SCDY due to HCM. METHODS AND RESULTS: Through review of all death certificates, we identified all SCDs in Danes aged 1-35 years...... in 2000-2009. Nationwide we included all deaths (n = 8756) and identified 431 autopsied SCDYs. All available records from hospitals and general practitioners were retrieved. To compare symptoms, we included a control groups consisting of traffic accident victims (n = 74). In the 10-year study period, 431...... autopsied SCDY cases were reviewed and 38 cases (9%) were included, of which 22 (58%) had morphologic findings diagnostic of HCM and 16 (42%) had findings suggestive, but not diagnostic, of HCM ('possible HCM'). Cardiac symptoms >1 h prior to death were reported in 21 (55%) of cases, and 16 (42%) sought...

  10. Ultrastructural myocardial changes in seven cats with spontaneous hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun; Prats Gavalda, Clara; Hyttel, Poul

    2015-01-01

    OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats and shares clinical and pathological characteristics with human HCM. Little is known about the pathogenic mechanisms underlying development of spontaneous feline HCM. ANIMALS: The study population consisted...... of seven cats diagnosed with HCM and eight age-matched cats with no evidence of cardiac disease. METHODS: Fresh myocardial biopsies taken from the middle of the left ventricular posterior free wall were obtained and examined with transmission electron microscopy. RESULTS: Electron microscopic examination...... showed ultrastructural aberrations of the myocardial cytoarchitecture and of the interstitium in the seven cats with HCM. In the most severely affected cats the myofibrils were disorganized and subsarcolemmal mitochondria were depleted. In control cats, contraction band artifacts were commonly seen...

  11. Safety profile and utility of treadmill exercise in patients with high-gradient hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Sorensen, Lars Lindholm; Liang, Hsin-Yueh; Pinheiro, Aurelio

    2017-01-01

    BACKGROUND: Exercise echocardiography in the evaluation of hypertrophic cardiomyopathy (HCM) provides valuable information for risk stratification, selection of optimal treatment, and prognostication. However, HCM patients with left ventricular outflow tract gradients ≥30mm Hg are often excluded ...

  12. Angiotensin II type 2 receptors and cardiac hypertrophy in women with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    J. Deinum (Jacob); J.M. van Gool (Jeanette); M.J.M. Kofflard (Marcel); A.H.J. Danser (Jan); F.J. ten Cate (Folkert)

    2001-01-01

    textabstractThe development of left ventricular hypertrophy in subjects with hypertrophic cardiomyopathy (HCM) is variable, suggesting a role for modifying factors such as angiotensin II. Angiotensin II mediates both trophic and antitrophic effects, via angiotensin II type 1

  13. Contemporary Natural History and Management of Nonobstructive Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Maron, Martin S; Rowin, Ethan J; Olivotto, Iacopo; Casey, Susan A; Arretini, Anna; Tomberli, Benedetta; Garberich, Ross F; Link, Mark S; Chan, Raymond H M; Lesser, John R; Maron, Barry J

    2016-03-29

    Left ventricular outflow tract gradients are absent in an important proportion of patients with hypertrophic cardiomyopathy (HCM). However, the natural course of this important patient subgroup remains largely unresolved. The authors systematically employed exercise (stress) echocardiography to define those patients without obstruction to left ventricular outflow at rest and/or under physiological exercise and to examine their natural history and clinical course to create a more robust understanding of this complex disease. We prospectively studied 573 consecutive HCM patients in 3 centers (44 ± 17 years; 66% male) with New York Heart Association functional class I/II symptoms at study entry, including 249 in whom left ventricular outflow tract obstruction was absent both at rest and following physiological exercise (<30 mm Hg; nonobstructive HCM) and retrospectively assembled clinical follow-up data. Over a median follow-up of 6.5 years, 225 of 249 nonobstructive patients (90%) remained in classes I/II, whereas 24 (10%) developed progressive heart failure to New York Heart Association functional classes III/IV. Nonobstructive HCM patients were less likely to experience advanced limiting class III/IV symptoms than the 324 patients with outflow obstruction (1.6%/year vs. 7.4%/year rest obstruction vs. 3.2%/year provocable obstruction; p < 0.001). However, 7 nonobstructive patients (2.8%) did require heart transplantation for progression to end stage versus none of the obstructive patients. HCM-related mortality among nonobstructive patients was low (n = 8; 0.5%/year), with 5- and 10-year survival rates of 99% and 97%, respectively, which is not different from expected all-cause mortality in an age- and sex-matched U.S. population (p = 0.15). HCM patients with nonobstructive disease appear to experience a relatively benign clinical course, associated with a low risk for advanced heart failure symptoms, other disease complications, and HCM-related mortality, and

  14. Comparison Between Clinical and Echocardiographic Findings in Infants and Children Diagnosed with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Cristina Blesneac

    2015-06-01

    Full Text Available Background: Hypertrophic cardiomyopathy is a rather common hereditary disease with an autozomal dominant character, caused by mutations of genes that code for proteins of the cardiac sarcomere. The observed prevalence of this disease is much lower in pediatric patients compared to adults, because it’s late gene expression. Hypertrophic cardiomyopathy presenting in infancy has been shown to have a very high mortality.

  15. Value of noninvasive diagnostic procedures in cardiology: typical findings in hypertrophic obstructive cardiomyopathy

    International Nuclear Information System (INIS)

    Riebeling, V.; Bubenheimer, P.

    1984-01-01

    Routine chest X-ray often yields poor information for diagnosis of heart disease. The diagnostic value of invasive procedures in cardiology is generally accepted. The patient's as well as the physician's risk of the examination, however, has to be considered. A high number of heart diseases, e.g. hypertrophic obstructive cardiomyopathy (HOCM) is mainly detected by noninvasive procedures such as auscultation, electrocardiography, phonomechanocardiography, echocardiography, physical manoeuvres, and pharmacological provocation tests. Typical findings in hypertrophic obstructive cardiomyopathy are demonstrated. (orig.) [de

  16. Right ventricular mechanics in hypertrophic cardiomyopathy using feature tracking

    Science.gov (United States)

    Badran, Hala Mahfouz; Soliman, Mahmood; Hassan, Hesham; Abdelfatah, Raed; Saadan, Haythem; Yacoub, Magdi

    2013-01-01

    Objectives: Right ventricular (RV) mechanics in hypertrophic cardiomyopathy (HCM) are poorly understood. We investigate global and regional deformation of the RV in HCM and its relationship to LV phenotype, using 2D strain vector velocity imaging (VVI). Methods: 100 HCM patients (42% females, 41 ± 19 years) and 30 control patients were studied using VVI. Longitudinal peak systolic strain (ϵsys), strain rate (SR), time to peak (ϵ) (TTP), displacement of RV free wall (RVFW) and septal wall were analyzed. Similar parameters were quantified in LV septal, lateral, anterior and inferior segments. Intra-V-delay was defined as SD of TTP. Inter-V-delay was estimated from TTP difference between the most delayed LV segment & RVFW. Results: ϵsys and SR of both RV & LV, showed loss of base to apex gradient and significant decline in HCM (p < 0.001). Deformation variables estimated from RVFW were strongly correlated with each other (r = 0.93, p < 0.0001). Both were directly related to LV ϵsys, SRsys, SRe, ejection fraction (EF)%, RVFW displacement (P < 0.001) and inversely related to age, positive family history (p < 0.004, 0.005), RV wall thickness, maximum wall thickness (MWT), intra-V-delay, LA volume (P < 0.0001), LVOT gradient (p < 0.02, 0.005) respectively. ROC curves were constructed to explore the cut-off point that discriminates RV dysfunction. Global and RVFW ϵsys: − 19.5% shows 77, 70% sensitivity & 97% specificity, SRsys: − 1.3s− 1 shows 82, 70% sensitivity & 30% specificity. Multivariate analyses revealed that RVFW displacement (β = − 0.9, p < 0.0001) and global LV SRsys (β = 5.9, p < 0.0001) are independent predictors of global RV deformation. Conclusions: Impairment of RV deformation is evident in HCM using feature tracking. It is independently influenced by LV mechanics and correlated to the severity of LV phenotype. RVFW deformation analysis and global RV assessment are comparable. PMID:24689019

  17. Sudden cardiac arrest in a young patient with hypertrophic cardiomyopathy and zero canonical risk factors: the inherent limitations of risk stratification in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kohorst, John J; Bos, J Martijn; Hagler, Donald J; Ackerman, Michael J

    2014-01-01

    Hypertrophic cardiomyopathy is the most common heritable cardiovascular disease and a common cause of sudden cardiac death (SCD) in young adolescents and athletes. Clinical risk stratification for SCD is predicated on the presence of established risk factors; however, this assessment is far from perfect. Herein, we present a 16-year-old male who was resuscitated successfully from his sentinel event of out-of-hospital cardiac arrest. Prior to this event, he was asymptomatic and lacked all traditional SCD-predisposing risk factors for hypertrophic cardiomyopathy. © 2013 Wiley Periodicals, Inc.

  18. Hypertrophic Cardiomyopathy Associated with Mid-cavity Obstruction and High Left Intraventricular Pressure

    Science.gov (United States)

    A. Bejiqi, Ramush; J. Retkoceri, Ragip; Sh. Bejiqi, Hana

    2011-01-01

    We report a case of a child, with a rare form of the idiopathic hypertrophic cardiomyopathy, associated with mid-cavity obstruction and high intraventricular peak pressure. Cardiomyopathy, diagnosed antenataly, was followed postnataly and, despite of a lot echocardiographic findings - the growing, development and clinical signs are minimal. PMID:23407799

  19. Hypertrophic Cardiomyopathy Associated with Mid-cavity Obstruction and High Left Intraventricular Pressure

    OpenAIRE

    A. Bejiqi, Ramush; J. Retkoceri, Ragip; Sh. Bejiqi, Hana

    2011-01-01

    We report a case of a child, with a rare form of the idiopathic hypertrophic cardiomyopathy, associated with mid-cavity obstruction and high intraventricular peak pressure. Cardiomyopathy, diagnosed antenataly, was followed postnataly and, despite of a lot echocardiographic findings - the growing, development and clinical signs are minimal.

  20. Critical myocardial perfusion in hypertrophic cardiomyopathy demonstrated with thallium-201 SPECT with a quantitative bullseye map

    International Nuclear Information System (INIS)

    Hunter, G.J.

    1990-01-01

    PURPOSE: A particular problem in hypertrophic cardiomyopathy (HCM) is the need to distinguish between true and apparent ischemia in otherwise normal areas of muscle when these are compared with adjacent hypertrophic muscle. The authors of this paper studied patients with proved HCM to define patterns of perfusion. T1-201 single photon emission CT (SPECT) was performed in 83 HCM patients immediately after stress (dipyridamole, 0.5 mg/kg) and 3 hours later for the redistribution image. The data were analyzed by a normalized quantitative analysis using a local bulls-eye technique. In all patients, the pattern of tracer distribution was different from expected uptake in a normal population. By virtue of the increased microcirculation to hypertrophied muscle, adjacent normal muscle appeared relatively ischemic

  1. Management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Trojan, Meghan K Borden; Biederman, Robert W

    2017-07-01

    Healthcare professionals are faced with challenging decisions regarding patient evaluation and management on a daily basis. Once a diagnosis is made, additional challenges include how to proceed with the management. Here, we present an eighty-two-year-old female who was incidentally diagnosed with the apical variant of hypertrophic cardiomyopathy on a transthoracic echocardiogram. She was found to have newly diagnosed atrial fibrillation, but was otherwise asymptomatic from a cardiomyopathy standpoint. No specific guidelines exist for this patient population. Therefore, how does one proceed with the management of an asymptomatic patient with the apical variant of hypertrophic cardiomyopathy? © 2017, Wiley Periodicals, Inc.

  2. Magnetic resonance imaging of hypertrophic cardiomyopathy. Evaluation of diastolic function

    International Nuclear Information System (INIS)

    Schwarz, F.; Reiser, M.F.; Theisen, D.; Schwab, F.; Beckmann, B.M.; Schuessler, F.; Kaeaeb, S.; Zinsser, D.; Goelz, T.

    2013-01-01

    Hypertrophic cardiomyopathy (HCM) has a prevalence of approximately 0.2% and is clinically asymptomatic in many patients or presents with unspecific symptoms. This explains the importance of imaging for the diagnosis of HCM as well as for the assessment of the clinical course. The definitive finding in HCM is myocardial hypertrophy with thickening of the ventricular wall ≥ 15 mm. While echocardiography is an excellent screening tool magnetic resonance imaging (MRI) allows a comprehensive analysis of the heart in HCM. This includes a detailed analysis of the distribution and extent of myocardial hypertrophy, a thorough evaluation of systolic and diastolic cardiac function, the assessment of the presence and extent of dynamic outflow tract obstruction as well as the description of the systolic anterior motion (SAM) phenomenon of the mitral valve with secondary mitral insufficiency. When contrast material is administered, additional information about myocardial perfusion as well as the presence and extent of myocardial fibrosis can be obtained. This study compared systolic functional parameters as well as end systolic and end diastolic wall thickness of patients with and without diastolic dysfunction. (orig.) [de

  3. QT prolongation and sudden cardiac death risk in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Patel, Salma I; Ackerman, Michael J; Shamoun, Fadi E; Geske, Jeffrey B; Ommen, Steve R; Love, William T; Cha, Stephen S; Bos, Johan M; Lester, Steven J

    2018-03-07

    Risk assessment for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) remains complex. The goal of this study was to assess electrocardiogram (ECG)-derived risk factors on SCD in a large HCM population Methods: Retrospective review of adults with HCM evaluated at Mayo Clinic, Rochester, MN from 1 December 2002 to 31 December 2012 was performed. Data inclusive of ECG and 24-hour ambulatory Holter monitor were assessed. SCD events were documented by ventricular fibrillation (VF) noted on implantable cardioverter defibrillator (ICD), or appropriate VT or VF-terminating ICD shock. Overall, 1615 patients (mean age 53.7 ± 15.2 years; 943 males, 58.4%) were assessed, with mean follow-up 2.46 years and 110 SCD events. Via logistic regression (n = 820), the odds of SCD increased with increasing number of conventional risk factors. With one risk factor the OR was 4.88 (p  450 to this logistic regression model had OR 1.722 (p = .04, CI 1.01-2.937) to predict SCD. QTc ≥ 450 was a significant predictor for death (HR 1.88, p = .021, CI 1.10-3.20). There was no correlation between sinus bradycardia, sinus tachycardia, first degree AV block, atrial fibrillation, left bundle branch block, right bundle branch block, premature atrial complexes, premature ventricular complexes, supraventricular tachycardia, PR interval, QRS interval and SCD. Prolonged QTc was a risk factor for SCD and death even when controlling for typical risk factors.

  4. J Waves for Predicting Cardiac Events in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Tsuda, Toyonobu; Hayashi, Kenshi; Konno, Tetsuo; Sakata, Kenji; Fujita, Takashi; Hodatsu, Akihiko; Nagata, Yoji; Teramoto, Ryota; Nomura, Akihiro; Tanaka, Yoshihiro; Furusho, Hiroshi; Takamura, Masayuki; Kawashiri, Masa-Aki; Fujino, Noboru; Yamagishi, Masakazu

    2017-10-01

    This study sought to investigate whether the presence of J waves was associated with cardiac events in patients with hypertrophic cardiomyopathy (HCM). It has been uncertain whether the presence of J waves predicts life-threatening cardiac events in patients with HCM. This study evaluated consecutive 338 patients with HCM (207 men; age 61 ± 17 years of age). A J-wave was defined as J-point elevation >0.1 mV in at least 2 contiguous inferior and/or lateral leads. Cardiac events were defined as sudden cardiac death, ventricular fibrillation or sustained ventricular tachycardia, or appropriate implantable cardiac defibrillator therapy. The study also investigated whether adding the J-wave in a conventional risk model improved a prediction of cardiac events. J waves were seen in 46 (13.6%) patients at registration. Cardiac events occurred in 31 patients (9.2%) during median follow-up of 4.9 years (interquartile range: 2.6 to 7.1 years). In a Cox proportional hazards model, the presence of J waves was significantly associated with cardiac events (adjusted hazard ratio: 4.01; 95% confidence interval [CI]: 1.78 to 9.05; p = 0.001). Compared with the conventional risk model, the model using J waves in addition to conventional risks better predicted cardiac events (net reclassification improvement, 0.55; 95% CI: 0.20 to 0.90; p = 0.002). The presence of J waves was significantly associated with cardiac events in HCM. Adding J waves to conventional cardiac risk factors improved prediction of cardiac events. Further confirmatory studies are needed before considering J-point elevation as a marker of risk for use in making management decisions regarding risk in patients with HCM. Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  5. Echocaridography, electrocardiography, and radiography of cats with dilatation cardiomyopathy, hypertrophic cardiomyopathy, and hyperyroidism

    International Nuclear Information System (INIS)

    Moise, N.S.; Dietze, A.E.; Mezza, L.E.; Strickland, D.; Erb, H.N.; Edwards, N.J.

    1986-01-01

    The echocardiographic, ECG, and radiographic findings of sequentially examined cats with dilatation cardiomyopathy (DCM, n = 7), hypertrophic cardiomyopathy (HCM, n = 8), and hyperthyroidism (HT, n = 20) were compared with those of healthy control cats (n = 11). Cats with DCM were easily differentiated from healthy cats by echocardiography and from cats with HCM and HT by a dilated left ventricle at end-diastole with a mean +/- SD of 2.20 +/- 0.36 cm, reduced fractional shortening (2.9% +/- 3.7%), reduced aortic amplitude (0.07 +/- 0.05 cm), reduced left ventricular wall amplitude (0.09 +/- 0.09 cm), and increased E-point septal separation (0.83 +/- 0.29 cm). The cats with HCM were most consistently recognized echocardiographically by increased left ventricular wall thickness at end-diastole (0.75 +/- 0.12 cm). Some cats with HT had abnormal echocardiograms with left ventricular wall hypertrophy. These cats could usually be differentiated from the cats with HCM because of normal or increased ventricular wall amplitude, aortic amplitude, or percentage of thickening of the left ventricular wall and interventricular septum. Left atrial enlargement (left atrial diameter greater than 1.57 cm or left atrium/aorta greater than 1.75) was commonly detected by the echocardiogram in cats with DCM, HCM, or HT. The echocardiogram was helpful in differentiating the type of cardiomyopathy (DCM, HCM, or HT) when plain thoracic radiographs indicated that cardiomegaly existed. The ECG may have indicated incorrectly that there was left ventricular enlargement in some cats with HT, and it did not indicate consistently that left ventricular enlargement existed when present in cats with DCM or HCM. The ECG was a poor indicator of left atrial enlargement in all cats

  6. Myectomy and LA-to-LV Conduit for Severe Calcific Mitral Stenosis and Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Meghji, Zahara; Nguyen, Anita; Geske, Jeffrey B; Schaff, Hartzell V

    2018-02-26

    Severe calcific mitral valve stenosis can rarely occur concomitantly with obstructive hypertrophic cardiomyopathy. In these patients, surgical decalcification of the stenotic mitral valve followed by mitral valve replacement carries significant operative risk and may result in paravalvular leakage, atrioventricular groove disruption, and excessive bleeding. We report the first 2 cases of obstructive hypertrophic cardiomyopathy with severe calcific mitral valve stenosis successfully treated with concomitant transaortic septal myectomy and bypass of the stenotic mitral valve using a valved left atrium to left ventricular conduit. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  7. Biventricular Hypertrophic Cardiomyopathy in a Child with LEOPARD Syndrome: a Case Report

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    Blesneac Cristina

    2017-12-01

    Full Text Available Background: LEOPARD syndrome is a complex dysmorphogenetic disorder of inconstant penetrance and various morphologic expressions. The syndrome is an autosomal dominant disease that features multiple lentigines, electrocardiographic changes, eye hypertelorism, pulmonary valve stenosis or hypertrophic cardiomyopathy, genital malformations, and a delayed constitutional growth hearing loss, which can be associated with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy. No epidemiologic data are available on the real incidence of LEOPARD syndrome; however, this seems to be a rare disease, being often underdiagnosed, as many of its features are mild.

  8. Myocardial glucose metabolism in patients with hypertrophic cardiomyopathy. Assessment by F-18-FDG PET study

    International Nuclear Information System (INIS)

    Uehara, Toshiisa; Ishida, Yoshio; Hayashida, Kohei

    1998-01-01

    In an investigation of myocardial metabolic abnormalities in hypertrophic myocardium, the myocardial glucose metabolism was evaluated with F-18-fluorodeoxyglucose (FDG) positron emission tomography (PET) in 32 patients with hypertrophic cardiomyopathy, and the results were compared with those in 9 patients with hypertensive heart disease. F-18-FDG PET study was performed in the fasting and glucose-loading states. The myocardial regional %dose uptake was calculated quantitatively. The average regional %dose uptake in the fasting state in the patients with asymmetric septal hypertrophy and dilated-phase hypertrophic cardiomyopathy was significantly higher than that in the patients with hypertensive heart disease (0.75±0.34%, 0.65±0.25%, and 0.43±0.22%/100 g myocardium, respectively). In contrast, the average %dose uptake in the glucose-loading state in the patients with asymmetric septal hypertrophy and dilated-phase hypertrophic cardiomyopathy was not significantly different from that in patients with hypertensive heart disease (1.17±0.49%, 0.80±0.44% and 0.99±0.45%, respectively). The patients with apical hypertrophy had also low %dose uptake in the fasting state (0.38±0.21%) as in the hypertensive heart disease patients, so that the characteristics of asymmetric septal hypertrophy and dilated-phase hypertrophic cardiomyopathy are considered to be high FDG uptake throughout the myocardium in the fasting state. Patients with apical hypertrophy are considered to belong to other disease categories metabolically. F-18-FDG PET study is useful in the evaluation of the pathophysiologic diagnosis of patients with hypertrophic cardiomyopathy. (author)

  9. Left Atrial Mechanical Function and Global Strain in Hypertrophic Cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Kyung-Jin Kim

    Full Text Available Atrial fibrillation is the most common arrhythmia and is associated with adverse outcomes in hypertrophic cardiomyopathy (HCM. Although left atrial (LA remodeling and dysfunction are known to associate with the development of atrial fibrillation in HCM, the changes of the LA in HCM patients remain unclear. This study aimed to evaluate the changes in LA size and mechanical function in HCM patients compared to control subjects and to determine the characteristics of HCM associated with LA remodeling and dysfunction.Seventy-nine HCM patients (mean age, 54 ± 11 years; 76% were men were compared to 79 age- and sex-matched controls (mean age, 54 ± 11 years; 76% were men and 20 young healthy controls (mean age, 33 ± 5 years; 45% were men. The LA diameter, volume, and mechanical function, including global strain (ε, were evaluated by 2D-speckle tracking echocardiography. The phenotype of HCM, maximal left ventricular (LV wall thickness, LV mass, and presence and extent of late gadolinium enhancement (LGE were evaluated with cardiac magnetic resonance imaging.HCM patients showed increased LA volume index, impaired reservoir function, and decreased LA ε compared to the control subjects. When we divided the HCM group according to a maximal LA volume index (LAVImax of 38.7 ml/m2 or LA ε of 21%, no significant differences in the HCM phenotype and maximal LV wall thickness were observed for patients with LAVImax >38.7 ml/m2 or LA ε ≤21%. Conversely, the LV mass index was significantly higher both in patients with maximal LA volume index >38.7 ml/m2 and with LA ε ≤21% and was independently associated with LAVImax and LA ε. Although the LGE extent was increased in patients with LA ε ≤21%, it was not independently associated with either LAVImax or LA ε.HCM patients showed progressed LA remodeling and dysfunction; the determinant of LA remodeling and dysfunction was LV mass index rather than LV myocardial fibrosis by LGE-magnetic resonance

  10. Genetic Counseling and Cardiac Care in Predictively Tested Hypertrophic Cardiomyopathy Mutation Carriers: The Patients' Perspective

    NARCIS (Netherlands)

    Christiaans, Imke; van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A. M.; Smets, Ellen M. A.

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with sudden cardiac death. predictive genetic counseling and testing are performed using adapted Huntington guidelines, that is, psychosocial care and time for reflection are not obligatory and the test result can be

  11. Initial results of combined anterior mitral leaflet extension and myectomy in patients with obstructive hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    M.J.M. Kofflard (Marcel); L.A. van Herwerden (Lex); D.J. Waldstein; P.N. Ruygrok (Peter); H. Boersma (Eric); M.A. Taams (Meindert); F.J. ten Cate (Folkert)

    1996-01-01

    textabstractObjectives. The purpose of this study was to describe the clinical and functional results of combined anterior mitral leaflet extension and myectomy in patients with hypertrophic obstructive cardiomyopathy. Background. Septal myectomy is the most commonly performed surgical procedure in

  12. Electrocardiographic features of sarcomere mutation carriers with and without clinically overt hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Lakdawala, Neal K; Thune, Jens Jakob; Maron, Barry J

    2011-01-01

    In hypertrophic cardiomyopathy (HC), electrocardiographic (ECG) changes have been postulated to be an early marker of disease, detectable in sarcomere mutation carriers when left ventricular (LV) wall thickness is still normal. However, the ECG features of mutation carriers have not been fully...

  13. Risk and Causes of Death in Patients After Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy.

    Science.gov (United States)

    Veselka, Josef; Zemánek, David; Jahnlová, Denisa; Krejčí, Jan; Januška, Jaroslav; Dabrowski, Maciej; Bartel, Thomas; Tomašov, Pavol

    2015-10-01

    Because the final myocardial scar might be theoretically associated with an increased risk of sudden cardiac death, the long-term clinical course of patients who undergo alcohol septal ablation (ASA) is still a matter of debate. In this retrospective multicentre study, we report outcomes after ASA, including survival, analysis of causes of deaths, and association between time and cause of death. We enrolled 366 consecutive patients (58 ± 12 years, 54% women) who were treated using ASA and followed-up for 5.1 ± 4.5 years. The in-hospital and 30-day mortality were 0.5% and 0.8%, respectively; the ASA-related morbidity was cause mortality rate was 2.8% per year. The mortality rates of sudden death and sudden death with an appropriate implantable cardioverter-defibrillator (ICD) discharge were 0.4% and 1% per year, respectively. Patients with sudden death or appropriate ICD discharge experienced these mortality events at younger age than patients who died of other hypertrophic obstructive cardiomyopathy-related causes (60.8 years [range, 52-71.5 years] vs 72.4 years [range, 64.2-75.2 years]; P = 0.048). A total of 292 patients (80%) had an outflow gradient ≤ 30 mm Hg, and 327 patients (89%) were in New York Heart Association class ≤ II at the last clinical check-up. ASA had low procedure-related mortality, with subsequent 1% occurrence of sudden mortality events per year and 2.8% mortality rate per year in the long-term follow-up. Patients with sudden death or ICD discharge experienced the mortality events approximately 1 decade earlier than patients who died from other causes not related to hypertrophic cardiomyopathy. Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  14. Hypertrophic Obstructive Cardiomyopathy Masked by Tako-Tsubo Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Y. Daralammori

    2012-01-01

    Full Text Available Introduction. Left ventricular outflow obstruction might be part of the pathophysiological mechanism of Tako-tsubo cardiomyopathy. This obstruction can be masked by Tako-tsubo cardiomyopathy and diagnosed only by followup. Case Presentation. A 70-year-old female presented with Tako-tsubo cardiomyopathy and masked obstructive hypertrophic cardiomyopathy at presentation. Conclusion. Tako-tsubo cardiomyopathy typically presents like an acute MI and is characterized by severe, but transient, regional left ventricular systolic dysfunction. Prompt evaluation of the coronary status is, therefore, mandatory. The prognosis under medical treatment of heart failure symptoms and watchful waiting is favourable. Previous studies showed that LVOT obstruction might be part of the pathophysiological mechanism of TCM. This paper supports this theory. However, TCM may also mask any preexisting LVOT obstruction.

  15. Isolated papillary muscle hypertrophy: A gap in our knowledge of hypertrophic cardiomyopathy?

    Science.gov (United States)

    Ferreira, Catarina; Delgado, Carlos; Vázquez, María; Trinidad, Carmen; Vilar, Manuel

    2014-06-01

    Increased thickness of left ventricular walls is the predominant characteristic and one of the diagnostic criteria of hypertrophic cardiomyopathy (HCM). This case illustrates an uncommon but important finding of isolated hypertrophy of the papillary muscles (PMs), observed in a young woman in whom an abnormal electrocardiogram was initially detected. During the investigation isolated PM hypertrophy was identified. The structural characteristics of the PMs have received scant attention in this setting and there is little information in the literature on this entity, whose real prevalence and clinical significance remain to be determined. The available information relates solitary PM hypertrophy with an early form or a different pattern of HCM. In this case PM hypertrophy was only detected due to the finding of an abnormal electrocardiogram, which prompted further diagnostic tests and a search for possible etiologies. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  16. Alcohol drinking triggers acute myocardial infarction in a case of hypertrophic obstructive cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Po-Chao Hsu

    2011-05-01

    Full Text Available Alcohol ingestion–related increased left ventricular outflow tract (LVOT pressure gradient in hypertrophic obstructive cardiomyopathy (HOCM has been reported in the literature; however, acute myocardial infarction (AMI after alcohol drinking in this patient group is rarely reported. Herein, we report a 68-year-old man with chronic alcoholism suffering from AMI after alcohol drinking. Electrocardiography revealed complete left bundle branch block, and chest X-ray showed acute pulmonary edema. Intubation was done for respiratory failure and intra-aortic balloon pump was also inserted for unstable hemodynamics. However, emergent coronary angiography revealed normal coronary arteries. HOCM was diagnosed by a high pressure gradient over LVOT and systolic anterior motion of mitral valve by echocardiography. This patient became stable under intensive care and medical treatment. This case reminds physicians that alcohol ingestion might cause AMI in HOCM patients because of increased LVOT pressure gradient and decreased coronary perfusion despite normal coronary arteries.

  17. [Sigmoid septum: A variant of the ventricular hypertrophy or of the hypertrophic cardiomyopathy?].

    Science.gov (United States)

    Gentille-Lorente, Delicia; Salvadó-Usach, Teresa

    2016-01-01

    Sigmoid septum and hypertrophic cardiomyopathy presenting with left ventricular hypertrophy and, although they appear to be different entities, often involve problems in the differential diagnosis. This study was carried out to assess the prevalence and characteristics of the echocardiographic sigmoid septum and its differential findings regarding hypertrophic cardiomyopathy. Descriptive, observational and prospective study. A total of 1,770 patients were studied by echocardiography. Sigmoid septum (focal and isolated hypertrophy of the basal interventricular septum≥13mm in men and ≥12mm in women, exceeding ≥50% of the median septum thickness) was classified as «Type 1» (≤14mm) and «Type 2» (≥15mm). There were 59 cases of sigmoid septum (prevalence of 3.3%): 26 (1.5%) patients with type 1 (50% male) and 33 (1.9%) patients with type 2 (72.7% male); there were 25 (1.4%) cases of hypertrophic cardiomyopathy (76% male). The group with type 2 sigmoid septum differed from hypertrophic cardiomyopathy in: was older (73±10.5years; P<.0001), with more hypertension (84.8%; P<.0001), lower glomerular filtering (73.3±21.4ml/min; P=.007), lower repolarization abnormalities (18.2%; P=.004) and Cornell index (in men, 22.2±11mm; P=.041), more diastolic dysfunction (75%; P=.0089) and in ventricular morphology and fibrosis location in magnetic resonance. Regarding the hypertrophic cardiomyopathy, patients with type 2 sigmoid septum are older and generally hypertensive; otherwise, often they have no clear differences in their clinical, electrocardiographic or echocardiographic characteristics. Therefore, cardiac resonance is helpful in the differential diagnosis. Copyright © 2016 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  18. Mitochondrial haplogroups modify the risk of developing hypertrophic cardiomyopathy in a Danish population

    DEFF Research Database (Denmark)

    Hagen, Christian M; Aidt, Frederik H; Hedley, Paula L

    2013-01-01

    Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in genes coding for proteins involved in sarcomere function. The disease is associated with mitochondrial dysfunction. Evolutionarily developed variation in mitochondrial DNA (mtDNA), defining mtDNA haplogroups and haplog......Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in genes coding for proteins involved in sarcomere function. The disease is associated with mitochondrial dysfunction. Evolutionarily developed variation in mitochondrial DNA (mtDNA), defining mtDNA haplogroups...... factors in the development of HCM. Thus, constitutive differences in mitochondrial function may influence the occurrence and clinical presentation of HCM. This could explain some of the phenotypic variability in HCM. The fact that haplogroup H and J are also modifying factors in ischemic cardiomyopathy...

  19. Pathogenesis of depression- and anxiety-like behavior in an animal model of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Dossat, Amanda M; Sanchez-Gonzalez, Marcos A; Koutnik, Andrew P; Leitner, Stefano; Ruiz, Edda L; Griffin, Brittany; Rosenberg, Jens T; Grant, Samuel C; Fincham, Francis D; Pinto, Jose R; Kabbaj, Mohamed

    2017-06-01

    Cardiovascular dysfunction is highly comorbid with mood disorders, such as anxiety and depression. However, the mechanisms linking cardiovascular dysfunction with the core behavioral features of mood disorder remain poorly understood. In this study, we used mice bearing a knock-in sarcomeric mutation, which is exhibited in human hypertrophic cardiomyopathy (HCM), to investigate the influence of HCM over the development of anxiety and depression. We employed behavioral, MRI, and biochemical techniques in young (3-4 mo) and aged adult (7-8 mo) female mice to examine the effects of HCM on the development of anxiety- and depression-like behaviors. We focused on females because in both humans and rodents, they experience a 2-fold increase in mood disorder prevalence vs. males. Our results showed that young and aged HCM mice displayed echocardiographic characteristics of the heart disease condition, yet only aged HCM females displayed anxiety- and depression-like behaviors. Electrocardiographic parameters of sympathetic nervous system activation were increased in aged HCM females vs. controls and correlated with mood disorder-related symptoms. In addition, when compared with controls, aged HCM females exhibited adrenal gland hypertrophy, reduced volume in mood-related brain regions, and reduced hippocampal signaling proteins, such as brain-derived neurotrophic factor and its downstream targets vs. controls. In conclusion, prolonged systemic HCM stress can lead to development of mood disorders, possibly through inducing structural and functional brain changes, and thus, mood disorders in patients with heart disease should not be considered solely a psychologic or situational condition.-Dossat, A. M., Sanchez-Gonzalez, M. A., Koutnik, A. P., Leitner, S., Ruiz, E. L., Griffin, B., Rosenberg, J. T., Grant, S. C., Fincham, F. D., Pinto, J. R. Kabbaj, M. Pathogenesis of depression- and anxiety-like behavior in an animal model of hypertrophic cardiomyopathy. © FASEB.

  20. Nonsurgical reduction of the interventricular septum in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Shamim, Waqar; Yousufuddin, Mohammed; Wang, Duolao; Henein, Michael; Seggewiss, Hubert; Flather, Marcus; Coats, Andrew J S; Sigwart, Ulrich

    2002-10-24

    In patients with hypertrophic cardiomyopathy and obstruction of the left ventricular outflow tract, nonsurgical reduction of the septum is a treatment option when medical therapy has failed. We investigated the long-term effects of nonsurgical reduction of the septum on functional capacity and electrocardiographic and echocardiographic characteristics. Sixty-four consecutive patients with hypertrophic cardiomyopathy and a mean (+/-SD) age of 48.5+/-17.2 years underwent nonsurgical reduction of the septum by injection of ethanol into the septal perforator branch of the left anterior descending coronary artery. These patients were assessed by exercise testing, electrocardiography, and resting and dobutamine (stress-induced) echocardiography after a mean period of 3.0+/-1.3 years. At follow-up, patients had significant improvements in New York Heart Association class, peak oxygen consumption (from 18.4+/-5.8 to 30.0+/-4.4 ml per kilogram of body weight per minute, P<0.001), and left ventricular outflow tract gradients (resting gradient, from 64+/-36 to 16+/-15 mm Hg; P<0.001; stress-induced gradient, from 132+/-34 to 45+/-19 mm Hg; P<0.001). Procedure-related complications included right bundle-branch block in all patients, complete heart block in 31 patients (48 percent), and significant increases in QRS and corrected QT intervals. Seventeen patients (27 percent) required permanent pacing. R-wave amplitude was significantly decreased (from 32+/-8 to 17+/-7 mV, P<0.001). The dimensions of the left ventricular cavity increased, and the interventricular septal thickness was reduced. Nonsurgical septal reduction leads to sustained improvements in both subjective and objective measures of exercise capacity in association with a persistent reduction in resting and stress-induced left ventricular outflow tract gradients. It is also associated with a high incidence of procedure-related complete heart block, however, often requiring permanent pacing. Copyright 2002

  1. Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene

    Directory of Open Access Journals (Sweden)

    Lehrke Stephanie

    2008-10-01

    Full Text Available Abstract Background Mutations in MYBPC3 encoding myosin binding protein C belong to the most frequent causes of hypertrophic cardiomyopathy (HCM and may also lead to dilated cardiomyopathy (DCM. MYBPC3 mutations initially were considered to cause a benign form of HCM. The aim of this study was to examine the clinical outcome of patients and their relatives with 18 different MYBPC3 mutations. Methods 87 patients with HCM and 71 patients with DCM were screened for MYBPC3 mutations by denaturing gradient gel electrophoresis and sequencing. Close relatives of mutation carriers were genotyped for the respective mutation. Relatives with mutation were then evaluated by echocardiography and magnetic resonance imaging. A detailed family history regarding adverse clinical events was recorded. Results In 16 HCM (18.4% and two DCM (2.8% index patients a mutation was detected. Seven mutations were novel. Mutation carriers exhibited no additional mutations in genes MYH7, TNNT2, TNNI3, ACTC and TPM1. Including relatives of twelve families, a total number of 42 mutation carriers was identified of which eleven (26.2% had at least one adverse event. Considering the twelve families and six single patients with mutations, 45 individuals with cardiomyopathy and nine with borderline phenotype were identified. Among the 45 patients, 23 (51.1% suffered from an adverse event. In eleven patients of seven families an unexplained sudden death was reported at the age between 13 and 67 years. Stroke or a transient ischemic attack occurred in six patients of five families. At least one adverse event occurred in eleven of twelve families. Conclusion MYBPC3 mutations can be associated with cardiac events such as progressive heart failure, stroke and sudden death even at younger age. Therefore, patients with MYBPC3 mutations require thorough clinical risk assessment.

  2. Cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy: Current state of the art.

    Science.gov (United States)

    Kamal, Muhammad Umar; Riaz, Irbaz Bin; Janardhanan, Rajesh

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiomyopathy with a prevalence of 1:500 (0.2%) in the general population. Sudden cardiac death (SCD) is the most feared presentation of HCM. Therefore, it is essential to identify individuals at high risk in order to prevent SCD. The absence of conventional risk factors does not nullify the risk of HCM related SCD. Although echocardiography is currently the most widely used imaging modality, cardiac magnetic resonance (CMR) allows detailed characterization of the HCM phenotype, which makes it possible to differentiate HCM from other causes of left ventricular hypertrophy. CMR has the potential to further refine risk stratification. Late gadolinium enhancement (LGE) on CMR is a high-risk feature and there is emerging data to suggest that the presence of LGE should be employed as a marker for major adverse outcomes such as SCD, arrhythmias, systolic and diastolic heart failure. Hence, LGE on CMR may be considered an additional risk factor for SCD in HCM patients and should be incorporated in decision-making for implant-able cardioverter defibrillator implantation to aid primary prevention. Novel markers such as the extent of myocardial fibrosis on CMR must be accounted for comprehensive risk stratifica-tion of HCM patients. The purpose of this review is to discuss the current status and emerging role of CMR in HCM.

  3. In hypertrophic cardiomyopathy reduction of relative resting myocardial blood flow is related to late enhancement, T2-signal and LV wall thickness.

    Directory of Open Access Journals (Sweden)

    Katja Hueper

    Full Text Available To quantify resting myocardial blood flow (MBF in the left ventricular (LV wall of HCM patients and to determine the relationship to important parameters of disease: LV wall thickness, late gadolinium enhancement (LGE, T2-signal abnormalities (dark and bright signal, LV outflow tract obstruction and age.Seventy patients with proven HCM underwent cardiac MRI. Absolute and relative resting MBF were calculated from cardiac perfusion MRI by using the Fermi function model. The relationship between relative MBF and LV wall thickness, T2-signal abnormalities (T2 dark and T2 bright signal, LGE, age and LV outflow gradient as determined by echocardiography was determined using simple and multiple linear regression analysis. Categories of reduced and elevated perfusion in relation to non- or mildly affected reference segments were defined, and T2-signal characteristics and extent as well as pattern of LGE were examined. Statistical testing included linear and logistic regression analysis, unpaired t-test, odds ratios, and Fisher's exact test.804 segments in 70 patients were included in the analysis. In a simple linear regression model LV wall thickness (p<0.001, extent of LGE (p<0.001, presence of edema, defined as focal T2 bright signal (p<0.001, T2 dark signal (p<0.001 and age (p = 0.032 correlated inversely with relative resting MBF. The LV outflow gradient did not show any effect on resting perfusion (p = 0.901. Multiple linear regression analysis revealed that LGE (p<0.001, edema (p = 0.026 and T2 dark signal (p = 0.019 were independent predictors of relative resting MBF. Segments with reduced resting perfusion demonstrated different LGE patterns compared to segments with elevated resting perfusion.In HCM resting MBF is significantly reduced depending on LV wall thickness, extent of LGE, focal T2 signal abnormalities and age. Furthermore, different patterns of perfusion in HCM patients have been defined, which may represent different stages of

  4. The value of myocardial scintigraphy in hypertrophic cardiomyopathy with angina pectoris

    International Nuclear Information System (INIS)

    Bergen, J.M.; Simons, M.

    1981-01-01

    Myocardial scintigraphy with thallium-201 is a new, non-invasive diagnostic method by means of which on special indications ischaemic heart diseases may be demonstrated. The case history is described of a man with hypertrophic cardiomyopathy and angina pectoris. The electrocardiogram at rest was affected by the cardiomyopathy to such a degree that the interpretation of the ST-T segment during effort was not reliable. Scintigraphy revealed transient ischaemia. A bypass operation was carried out and post-operatively, the improved myocardial perfusion could be confirmed by myocardial scintigraphy. (Auth.)

  5. Pattern of left ventricular hypertrophy seen on transthoracic echo in patients with hypertensive cardiomyopathy when compared with idiopathic hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Mirza, S. J.; Radaideh, G. A.

    2013-01-01

    Objective: To explore the pattern of left ventricular hypertrophy caused by hypertension and to compare it with idiopathic hypertrophic cardiomyopathy. Methods: The retrospective study was conducted at the echocardiography lab of Rashid Hospital, Dubai, from January 2009 to January 2010. Cases of 11 patients with significant left ventricular hypertrophy (septum >15mm) due to underlying hypertension were analysed and compared with 11 cases of idiopathic hypertrophic cardiography (septum >15mm) to assess the two groups with similar baseline echocardiographic features. Minitab software was used for statistical analysis. Results: Although the pattern of hypertrophy in hypertensive patients was more concentric (n=5; 45%), there was also asymmetrical septal hypertrophy in 4 (36%) cases, particularly the elderly with sigmoid shape septum. There was evidence of resting mid-cavity gradient due to reduced left ventricular end-systolic diameter in 4 (36%) cases. Conclusion: Although the equation between hypertension and left ventricular hypertrophy is more concentric, but it can be associated with left ventricular outflow tract obstruction and significant mid-cavity gradients similar to that seen in idiopathic hypertrophic cardiomyopathy. (author)

  6. Ablation of hypertrophic septum using radiofrequency energy: an alternative for gradient reduction in patient with hypertrophic obstructive cardiomyopathy?

    Science.gov (United States)

    Riedlbauchová, Lucie; Janoušek, Jan; Veselka, Josef

    2013-06-01

    Alcohol septal ablation and surgical myectomy represent accepted therapeutic options for treatment of symptomatic patients with hypertrophic obstructive cardiomyopathy. Long-term experience with radiofrequency ablation of arrhythmogenic substrates raised a question if this technique might be effective for left ventricular outflow tract (LVOT) gradient reduction. We report on a 63-year-old patient with recurrence of symptoms 1 year after alcohol septal ablation (ASA) leading originally to a significant reduction of both symptoms and gradient. Due to a new increase of gradient in the LVOT up to 200 mm Hg with corresponding worsening of symptoms and due to refusal of surgical myectomy by the patient, endocardial radiofrequency ablation of the septal hypertrophy (ERASH) was indicated. Radiofrequency ablation was performed in the LVOT using irrigated-tip ablation catheter; the target site was identified using intracardiac echocardiography and electroanatomical CARTO mapping. ERASH caused an immediate gradient reduction due to hypokinesis of the ablated septum. At 2-month follow-up exam, significant clinical improvement was observed, together with persistent gradient reduction assessed with Doppler echocardiography. Echocardiography and magnetic resonance revealed persistent septal hypokinesis and slight thinning of the ablated region. Septal ablation using radiofrequency energy may be a promising alternative or adjunct to the treatment of hypertrophic obstructive cardiomyopathy. Intracardiac echocardiography and electroanatomical CARTO mapping enable exact lesion placement and preservation of atrioventricular conduction.

  7. Hypertrophic Cardiomyopathy Mimicking Acute Anterior Myocardial Infarction Associated with Sudden Cardiac Death

    Directory of Open Access Journals (Sweden)

    Y. Daralammouri

    2012-01-01

    Full Text Available Hypertrophic cardiomyopathy is the most common genetic disease of the heart. We report a rare case of hypertrophic obstructive cardiomyopathy mimicking an acute anterior myocardial infarction associated with sudden cardiac death. The patient presented with acute ST elevation myocardial infarction and significant elevation of cardiac enzymes. Cardiac catheterization showed some atherosclerotic coronary artery disease, without significant stenosis. Echocardiography showed left ventricular hypertrophy with a left ventricular outflow tract obstruction; the pressure gradient at rest was 20 mmHg and became severe with the Valsalva maneuver (100 mmHg. There was no family history of sudden cardiac death. Six days later, the patient suffered a syncope on his way to magnetic resonance imaging. He was successfully resuscitated by ventricular fibrillation.

  8. Left ventricular assist device implantation in a patient who had previously undergone apical myectomy for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Cho, Yang Hyun; Deo, Salil V; Topilsky, Yan; Grogan, Martha A; Park, Soon J

    2012-03-01

    Apical hypertrophy is a rare variant of hypertropic cardiomyopathy. These patients may present with end-stage congestive heart failure subsequent to long standing diastolic dysfunction. We report the technique for left ventricular assist device insertion in a patient with previous apical myectomy for hypertrophic cardiomyopathy. © 2012 Wiley Periodicals, Inc.

  9. Hypertrophic cardiomyopathy and Wolff-Parkinson-White Syndrome with complete auriculoventricular block. A strange association

    International Nuclear Information System (INIS)

    Vallejo, Franco J; Montana, Paula A; Vesga, Carlos; Miranda Antonio; Citelli Jose E; Negrete Alberto; Gil, Efrain

    2007-01-01

    A 22 years old male patient is admitted for a syncope episode. An electrocardiogram shows a Wolff-Parkinson-White pattern and signs of auricular overload with left ventricular hypertrophy and complete auriculoventricular block. The transthoracic echocardiogram is compatible with non-obstructive hypertrophic cardiomyopathy. An electrophysiological study is carried out, finding pre-excitation through an accessory way and infra-His auriculoventricular block. An ablation is performed and a bicameral pacemaker is implanted

  10. Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

    DEFF Research Database (Denmark)

    Havndrup, Ole; Christiansen, Michael; Stoevring, Birgitte

    2010-01-01

    AIMS: Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The 'cardiac variant' of Fabry disease which only affects the heart may be missed unless specifically te...... therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women....

  11. Papillary thyroid carcinoma treated with radiofrequency ablation in a patient with hypertrophic cardiomyopathy: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Sun, Jian Yi; Liu, Xiao Sun; Zhang, Qing; Hong, Yan Yun; Song, Bin; Teng, Xiao Dong; Yu, Ji Ren [The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou (China)

    2016-07-15

    Standard therapy has not been established for thyroid cancer when a thyroidectomy is contraindicated due to systemic disease. Herein, we reported a patient who had hypertrophic cardiomyopathy and papillary thyroid carcinoma treated by radiofrequency ablation because of inability to tolerate a thyroidectomy. Radiofrequency ablation can be used to treat thyroid cancer when surgery is not feasible, although the long-term outcome needs further observation.

  12. Papillary Thyroid Carcinoma Treated with Radiofrequency Ablation in a Patient with Hypertrophic Cardiomyopathy: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Sun, Jianyi; Liu, Xiaosun; Zhang, Qing; Hong, Yanyun; Song, Bin [Department of Gastrointestinal and Thyroid Surgery, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003 (China); Teng, Xiaodong [Department of Pathology, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003 (China); Yu, Jiren [Department of Gastrointestinal and Thyroid Surgery, The First Affiliated Hospital, Medical College, Zhejiang University, Hangzhou 310003 (China)

    2016-11-01

    Standard therapy has not been established for thyroid cancer when a thyroidectomy is contraindicated due to systemic disease. Herein, we reported a patient who had hypertrophic cardiomyopathy and papillary thyroid carcinoma treated by radiofrequency ablation because of inability to tolerate a thyroidectomy. Radiofrequency ablation can be used to treat thyroid cancer when surgery is not feasible, although the long-term outcome needs further observation.

  13. Current management of hypertrophic cardiomyopathy: evidence in pathophysiology, diagnosis and treatment

    International Nuclear Information System (INIS)

    Quesada Mena, Luis Diego

    2013-01-01

    Available literary evidence is reviewed on the current management of hypertrophic cardiomyopathy. The bibliographical search is carried out in physical and online texts, cardiology journals, databases (MEDLINE), original studies, reviews and metaanalysis. Literature in English and Spanish is included from the first descriptions of the disease in the fifties, until the date of the investigation. Clinical management of patients is compared and recommendations published by consensus groups of international associations [es

  14. Hypertrophic cardiomyopathy: from mutation to functional analysis of defective protein

    Czech Academy of Sciences Publication Activity Database

    Čapek, P.; Vondrášek, Jiří; Škvor, J.; Brdička, R.

    2011-01-01

    Roč. 52, č. 3 (2011), s. 384-391 ISSN 0353-9504 Grant - others:GA MŠk(CZ) LN00B107 Program:LN Institutional research plan: CEZ:AV0Z40550506 Keywords : myosin heavy chain * homology modeling * molecular simulation * inherited cardiomyopathies Subject RIV: CE - Biochemistry Impact factor: 1.796, year: 2011

  15. Assessment of chest pain in hypertrophic cardiomyopathy using exercise thallium-201 myocardial scintigraphy

    International Nuclear Information System (INIS)

    Pitcher, D.; Wainwright, R.; Maisey, M.; Curry, P.; Sowton, E.

    1980-01-01

    Exercise thallium-201 myocardial scintigraphy was performed in 23 patients with hypertrophic cardiomyopathy. Eighteen patients presented with chest pain which was a persistent symptom in 11. Selective coronary arteriography was performed in 16 patients and showed normal coronary arteries in 15 and insignificant luminal irregularities in one patient. Eighteen patients had abnormal scintigrams. Three had an abnormal distribution of tracer entirely attributable to asymmetric septal hypertrophy, whereas 15 had discrete tracer uptake defects which could not be explained solely by myocardial hypertrophy. In this latter group of patients three scintigraphic patterns were identified: (1) in 10 patients defects were seen in scintigrams immediately after exercise but not in delayed images obtained four to six hours later. Eight of these patients had chest pain. (2) Four patients had uptake defects seen in both initial and delayed images. One patient had chest pain. (3) In three patients, one of whom had chest pain, tracer defects were seen only in delayed images and were not apparent in the initial scintigrams. Chest pain occurred in eight out of 10 patients with scintigraphic evidence of myocardial ischaemia but was present in only three out of 13 patients with non-ischaemic scintigrams. The value of exercise thallium-201 myocardial imaging as a diagnostic technique in hypertrophic cardiomyopathy appears limited. Scintigraphic evidence of regional myocardial ischaemia in the absence of significant coronary artery disease, however, contributes to an understanding of the mechanism of angina production in patients with hypertrophic cardiomyopathy. (author)

  16. Benazepril and subclinical feline hypertrophic cardiomyopathy: A prospective, blinded, controlled study

    Science.gov (United States)

    Di Fruscia, Rocky

    2006-01-01

    Abstract Twenty-one cats with hypertrophic cardiomyopathy were enrolled in this study to determine if the administration of benazepril (0.5 mg/kg body weight [BW], PO, q24h) to cats with subclinical hypertrophic cardiomyopathy improves cardiac diastolic function and reverses left ventricular hypertrophy when compared with diltiazem controlled delivery (CD) (10 mg/kg BW, PO, q24h). Cats were evaluated at day 0 and after 3 and 6 months of therapy. In the benazepril group (n = 11), the diastolic transmitral flow of the E and A waves ratio (E/A ratio) increased significantly between 0 and 6 months (P = 0.009) and the thickness of the left ventricular free wall in systole (LVFWs) decreased significantly between 0 and 3 months (P = 0.04). In the diltiazem CD group (n = 5), none of the parameters varied significantly throughout the study. There was no difference between the benazepril and the diltiazem CD group throughout the study. Therefore, the variations observed for the E/A ratio and the LVFWs may have been incidental. Further studies will be needed to establish the role of benazepril in subclinical hypertrophic cardiomyopathy in cat. PMID:16734369

  17. Hypertrophic Cardiomyopathy: A Vicious Cycle Triggered by Sarcomere Mutations and Secondary Disease Hits.

    Science.gov (United States)

    Wijnker, Paul J M; Sequeira, Vasco; Kuster, Diederik W D; Velden, Jolanda van der

    2018-04-11

    Hypertrophic cardiomyopathy (HCM) is a cardiac genetic disease characterized by left ventricular hypertrophy, diastolic dysfunction, and myocardial disarray. Disease onset occurs between 20 and 50 years of age, thus affecting patients in the prime of their life. HCM is caused by mutations in sarcomere proteins, the contractile building blocks of the heart. Despite increased knowledge of causal mutations, the exact path from genetic defect leading to cardiomyopathy is complex and involves additional disease hits. Recent Advances: Laboratory-based studies indicate that HCM development not only depends on the primary sarcomere impairment caused by the mutation but also on secondary disease-related alterations in the heart. Here we propose a vicious mutation-induced disease cycle, in which a mutation-induced energy depletion alters cellular metabolism with increased mitochondrial work, which triggers secondary disease modifiers that will worsen disease and ultimately lead to end-stage HCM. Evidence shows excessive cellular reactive oxygen species (ROS) in HCM patients and HCM animal models. Oxidative stress markers are increased in the heart (oxidized proteins, DNA, and lipids) and serum of HCM patients. In addition, increased mitochondrial ROS production and changes in endogenous antioxidants are reported in HCM. Mutant sarcomeric protein may drive excessive levels of cardiac ROS via changes in cardiac efficiency and metabolism, mitochondrial activation and/or dysfunction, impaired protein quality control, and microvascular dysfunction. Interventions restoring metabolism, mitochondrial function, and improved ROS balance may be promising therapeutic approaches. We discuss the effects of current HCM pharmacological therapies and potential future therapies to prevent and reverse HCM. Antioxid. Redox Signal. 00, 000-000.

  18. Difference in myocardial flow reserve between patients with dilated cardiomyopathy and those with dilated phase of hypertrophic cardiomyopathy. Evaluation by 15O-water PET

    International Nuclear Information System (INIS)

    Ohba, Muneo; Kambara, Naoshige; Hosokawa, Ryohei

    2007-01-01

    The clinical features of patients with the dilated phase of hypertrophic cardiomyopathy (DHCM) may resemble those of patients with dilated cardiomyopathy (DCM); that is, systolic dysfunction and left ventricular dilatation. Myocardial flow reserve (MFR) is impaired in patients with nonischemic cardiomyopathy, and the reduced MFR may be related to poor prognosis. Several studies report that the mortality rate for patients with DHCM is higher than for DCM, but the difference between these 2 cardiomyopathies is still unclear. The purpose of this study was to assess the MFR of these 2 cardiomyopathies, using 15 O-water positron emission tomography (PET) to elucidate their differences. In total 30 patients were investigated: 23 with DCM (Group A) and 7 with DHCM (Group B). All those who were in a stable condition underwent cardiac catheterization. Myocardial blood flow (MBF) at rest and under adenosine 5'-triphosphate (ATP) infusion was measured by 15 O-water PET, and the MFR was calculated. There were no significant differences in the hemodynamics of the 2 groups. The mean MFR in DHCM was significantly lower than that in DCM (1.49±0.31 vs 2.62±1.08; p=0.042), whereas MBF at rest did not differ (DCM vs DHCM: 0.66±0.20 vs 0.49±0.05 ml·min -1 ·g -1 ; no significance (NS)). The MFR in both Group A and B was significantly decreased compared with the normal controls (MFR in normal controls: 5.15±1.64, p=0.00015, 0.00013, respectively). These results suggest that impaired vasodilatation (ie, dysfunction of the microcirculation) is more severe in patients with DHCM than in patients with DCM, even though patients' characteristics and hemodynamics do not differ. (author)

  19. Clinical, Radiographic, and Microbiologic Features of Infective Endocarditis in Patients With Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Sims, Jason R; Anavekar, Nandan S; Bhatia, Subir; O'Horo, John C; Geske, Jeffrey B; Chandrasekaran, Krishnaswamy; Wilson, Walter R; Baddour, Larry M; Gersh, Bernard J; DeSimone, Daniel C

    2018-02-15

    Infective endocarditis (IE) is an infection of the inner lining of the heart with high morbidity and mortality despite medical and surgical advancements in recent decades. Hypertrophic cardiomyopathy (HC) is one of several medical conditions that have been linked to an increased risk of IE, but there is a paucity of data on this association. We therefore sought to define the clinical phenotype of IE in patients with HC at a single tertiary care center. A retrospective cohort of 30 adult patients with HC diagnosed with IE between January 1, 2006 and December 31, 2016 at Mayo Clinic Rochester were identified. Similar rates of aortic (n = 14) and mitral (n = 16) valve involvement by IE were noted (47% vs 53%). This finding persisted even in patients with left-ventricular outflow tract obstruction and systolic anterior motion of the mitral valve. Symptomatic embolic complications occurred in 10 cases (33%). Surgical intervention was performed in 11 cases (37%). One-year mortality was remarkably low at 7%. In conclusion, in the largest single-center cohort of IE complicating HC, there were similar rates of both mitral and aortic valve involvement regardless of the presence of left ventricular outflow tract obstruction, which is contrary to a long-standing tenet regarding the association of HC and IE. Moreover, no "high risk" IE subset was identified based on HC-related parameters. Copyright © 2017 Elsevier Inc. All rights reserved.

  20. Ventricular premature contraction in hypertrophic cardiomyopathy and essential hypertension with left ventricular hypertrophy

    International Nuclear Information System (INIS)

    Kobiki, Naoki

    1989-01-01

    In order to investigate the relationship of different morbid states of the hypertrophied myocardium to the appearance of ventricular premature contraction (VPC), we compared the VPC findings from Holter ECG with those of UCG and stress thallium-201 myocardial SPECT scintigraphy (stress scinti) in 31 patients with hypertrophic cardiomyopathy (HCM) and 20 with essential hypertension (HT). The HCM patients consisted of 21 with asymmetric hypertrophy (ASH), 3 with symmetric hypertrophy (SH), and 7 with apical hypertrophy (APH). We recognized positive findings on the stress scinti such as fixed perfusion defect (FD) or reversible perfusion defect (RD) in 11 patients (ASH 10, APH 1) out of 31 patients with HCM (35%). Positive findings were observed in only one patient out of 20 with HT (5%). We recognized a high grade VPC (grade 4a and 4b of Lown's criteria) in 8 of 11 scinti positive patients with HCM (ASH 7, APH 1)(73%), while high grade VPC appeared in 5 (all of them are ASH) out of 20 scinti negative patients with HCM (25%). Therefore, these findings suggest that high grade VPCs in HCM occur in relation to a myocardial perfusion defect. (author)

  1. Changes in left atrial deformation in hypertrophic cardiomyopathy: Evaluation by vector velocity imaging

    Directory of Open Access Journals (Sweden)

    Hala Mahfouz Badran

    2012-12-01

    Full Text Available Objectives: Hypertrophic cardiomyopathy (HCM represents a generalized myopathic process affecting both ventricular and atrial myocardium. We assessed the global and regional left atrial (LA function and its relation to left ventricular (LV mechanics and clinical status in patients with HCM using Vector Velocity Imaging (VVI. Methods: VVI of the LA and LV was acquired from apical four- and two-chamber views of 108 HCM patients (age 40±19years, 56.5% men and 33 healthy subjects, all had normal LV systolic function. The LA subendocardium was traced to obtain atrial volumes, ejection fraction, velocities, and strain (ɛ/strain rate (SR measurements. Results: Left atrial reservoir (ɛsys,SRsys and conduit (early diastolic SRe function were significantly reduced in HCM compared to controls (P-1.8s-1 was 81% sensitive and 30% specific, SRa>-1.5s-1 was 73% sensitive and 40% specific. By multivariate analysis global LVɛsys and LV septal thickness are independent predictors for LAɛsys, while end systolic diameter is the only independent predictor for SRsys, P<.001. Conclusion: Left atrial reservoir and conduit function as measured by VVI were significantly impaired while contractile function was preserved among HCM patients. Left atrial deformation was greatly influenced by LV mechanics and correlated to severity of phenotype.

  2. Changes in left atrial deformation in hypertrophic cardiomyopathy: Evaluation by vector velocity imaging

    Science.gov (United States)

    Badran, Hala Mahfouz; Soltan, Ghada; Hassan, Hesham; Nazmy, Ahmed; Faheem, Naglaa; Saadan, Haythem; Yacoub, Magdi H.

    2012-01-01

    Abstract: Objectives: Hypertrophic cardiomyopathy (HCM) represents a generalized myopathic process affecting both ventricular and atrial myocardium. We assessed the global and regional left atrial (LA) function and its relation to left ventricular (LV) mechanics and clinical status in patients with HCM using Vector Velocity Imaging (VVI). Methods: VVI of the LA and LV was acquired from apical four- and two-chamber views of 108 HCM patients (age 40 ± 19years, 56.5% men) and 33 healthy subjects, all had normal LV systolic function. The LA subendocardium was traced to obtain atrial volumes, ejection fraction, velocities, and strain (ϵ)/strain rate (SR) measurements. Results: Left atrial reservoir (ϵsys,SRsys) and conduit (early diastolic SRe) function were significantly reduced in HCM compared to controls (P  − 1.8s− 1 was 81% sensitive and 30% specific, SRa> − 1.5s− 1 was 73% sensitive and 40% specific. By multivariate analysis global LVϵsys and LV septal thickness are independent predictors for LAϵsys, while end systolic diameter is the only independent predictor for SRsys, P < .001. Conclusion: Left atrial reservoir and conduit function as measured by VVI were significantly impaired while contractile function was preserved among HCM patients. Left atrial deformation was greatly influenced by LV mechanics and correlated to severity of phenotype. PMID:24688992

  3. Correlation between myocardial Thallium-201 kinetics, myocardial lactate metabolism and coronary angiographic findings in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Hanrath, P.; Mathey, D.; Thiel, U.; Kupper, W.; Bleifeld, W.; Mantz, R.; Vorbringer, H.; Schneider, C.

    1980-01-01

    In 20 patients with idiopathic hypertrophic obstructive and nonobstructive cardiomyopathy (IHSS), biphasic Thallium-201 myocardial scintigraphy was performed. Regional myocardial Thallium-201 kinetics of these patients were analysed by a semiquantitative computerized method and compared with those of 6 normal subjects. In 12 of 18 with IHSS and no coronary artery disease 26 regions of interest with irreversible and 6 regions of interest with reversible Thallium-201 defects could be detected. Most of the Thallium-201 defects were localized in the interventricular septum. The defects were not related to the age of the patients and there was no relationship between the occurence of reversible Thallium-201 defects and pathological myocardial lactate extraction rate during maximal atrial pacing measured in 14 patients. The percentage (6.8%) of irreversible defect regions in patients with LV outflow obstruction at rest (n = 13) was more than twice higher compared to those (n = 5, 3.2%) without LV outflow obstruction or no provocative pressure gradient, resp. These data suggest that IHSS often associated with regional ischemic myocardial fibrosis despite normal coronary arteries. Therefore in these patients Thallium scintigraphy cannot be used as a noninvasive screening method to exclude or prove coronary artery disease. (orig.) [de

  4. Heart rate turbulence as a marker of myocardial electrical instability in children with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    V. A. Makarova

    2014-01-01

    Full Text Available Heart rate turbulence is a myocardial electrical instability marker used to stratify the risk of sudden cardiac death. Fifty children aged 7 to 17 years with hypertrophic cardiomyopathy were examined. The survey program included standard electrocardiography, Doppler echocardiography, and 24-hour Holter ECG monitoring. Heart rate turbulence parameters, such as turbulence onset and turbulence slope, were analyzed. According to turbulence onset greater than zero, heart rate turbulence impairment was identified in 5 of the 24 patients included in the survey. The abnormal turbulence slope values of less than 6 msec/RR were found in 3 patients. Both parameters were abnormal in 1 patient. Heart rate turbulence impairment was significantly more common in children with the non-obstructive form of hypertrophic cardiomyopathy than in those with its obstructive form (χ2=3,05; p=0,08. All the children with abnormal heart rhythm turbulence values had one or more major risk factors for sudden cardiac death, which significantly exceeds their rates in the normal heart rate turbulence groups (χ2=7,11; p=0,007. The patients with abnormal turbulence onset values were more often found to have syncope (χ2=3,2; p=0,02. One such patient was recorded to have unstable ventricular tachycardia (χ2=10,56; p=0,001. Our findings suggest that heart rate turbulence is an additional predictor of the unfavorable course of hypertrophic cardiomyopathy in children. 

  5. Evaluation of myocardial glucose metabolism in hypertrophic cardiomyopathy using 18F-fluorodeoxyglucose positron emission tomography.

    Directory of Open Access Journals (Sweden)

    Rie Aoyama

    Full Text Available The purposes of this study were to assess the usefulness of myocardial 18F-fluorodeoxyglucose (18F-FDG positron emission tomography (PET/computed tomography (CT for evaluating myocardial metabolic status in hypertrophic cardiomyopathy (HCM and the therapeutic efficacy of alcohol septal ablation (ASA in hypertrophic obstructive cardiomyopathy (HOCM.Thirty HCM patients (64.4±10.5 years, 14 male, 12 hypertrophic non-obstructive cardiomyopathy [HNCM], 16 HOCM, and 2 dilated phase of HCM underwent 18F-FDG-PET/CT. 18F-FDG uptake was semi-quantitatively evaluated using an uptake score in each 17 segment and the entire LV or regional standardized uptake value (SUV.18F-FDG uptake was observed mostly in a hypertrophied myocardium in HNCM patients, whereas 18F-FDG was extensively accumulated beyond the hypertrophied myocardium in HOCM patients. There was a positive correlation between the summed uptake score of 18F-FDG and high-sensitive troponin T level in HNCM patients (r = 0.603, p = 0.049, whereas the score was positively correlated with brain natriuretic peptide level (r = 0.614, p = 0.011 in HOCM patients. In 10 patients who received ASA, the maximum SUV of the entire LV was significantly reduced from 5.6±2.6 to 3.2±2.1 (p = 0.040 after ASA. Reduction of that maximum SUV was particularly significant in the lateral region (from 5.5±2.6 to 2.9 ±2.2, p = 0.024 but not significant in the anteroseptal region (from 4.5±2.6 to 2.9±1.6, p = 0.12.Extensive 18F-FDG uptake beyond the hypertrophied myocardium was observed in HOCM. ASA attenuates 18F-FDG uptake in a remote lateral myocardium.

  6. Mitral valve repair or replacement in hypertrophic obstructive cardiomyopathy: a prospective randomized study.

    Science.gov (United States)

    Bogachev-Prokophiev, Alexander; Afanasyev, Alexander; Zheleznev, Sergey; Fomenko, Michael; Sharifulin, Ravil; Kretov, Eugenie; Karaskov, Alexander

    2017-09-01

    The optimal surgical strategy for concomitant mitral valve intervention during myectomy remains controversial. The purpose of this study was to compare the results of mitral valve replacement versus repair in patients with hypertrophic obstructive cardiomyopathy and severe mitral regurgitation. Between 2010 and 2013, a total of 88 patients with hypertrophic obstructive cardiomyopathy and severe mitral regurgitation were randomly assigned to undergo either mitral valve replacement or repair in addition to extended myectomy. Three patients from the repair group were switched to mitral valve replacement after repair failure. There was 1 early death (2.4%) in the replacement group. The resting left ventricular outflow tract gradient was reduced from 89.1 ± 20.4 to 18.3 ± 5.7 mmHg (P replacement and repair groups, respectively; there was no significant difference between the groups (P = 0.458). At 2-year follow-up, overall survival was 87.2 ± 4.9% and 96.7 ± 3.3% (P = 0.034); freedom from sudden cardiac death was 95.6 ± 3.1% and 96.7 ± 3.3% (P = 0.615); and freedom from thromboembolic events was 91.2 ± 4.2% and 100%, respectively (P = 0.026). Both mitral valve repair and valve replacement in addition to extended myectomy are effective methods of surgical treatment in patients with hypertrophic obstructive cardiomyopathy who have severe mitral regurgitation. The benefits of mitral valve repair are better overall survival and a lower rate of thromboembolic events. ClinicalTrials.gov: NCT02054221. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  7. Detection of myocardial ischemia of hypertrophic cardiomyopathy with gated 99Tcm-MIBI myocardial perfusion imaging

    International Nuclear Information System (INIS)

    Jia Peng; Guo Wanhua; Du Minghua; Gao Ling

    2010-01-01

    Objective: To evaluate the value of gated 99 Tc m -methoxyisobutylisonitrile (MIBI) myocardial perfusion imaging in detection of myocardial ischemia in hypertrophic cardiomyopathy. Methods: Sixty-nine patients with clinically proven hypertrophic cardiomyopathy were divided into 2 groups using coronary angiogram as 'gold standard': positive group (n=19, narrowing ≥ 50%) and negative group (n=50, narrowing 99 Tc m -MIBI myocardial perfusion imaging was performed and positive in all 69 patients (41 males, 28 females, aged 35-75 years). Comparative analysis between the two groups was carried out using t-test. Results: In the positive group, reversible and irreversible perfusion defects were detected in 9 and 10 patients, respectively. Left ventricular ejection fraction (LVEF) increased to (69.1 ± 2.8)% in 8 patients and decreased to (42.8 ± 2.1)% in 11 patients. In the negative group, reversible and irreversible perfusion defects were found in 37 and 13 patients, respectively. LVEF increased to (70.8 ± 4.0)% in 38 patients and decreased to (48.9 ± 2.7)% in 12 patients. The values of ischemic area, severity and extent of perfusion defect, and LVEF were significantly different between the two groups (t=9.28, 16.51, 2.65; P 99 Tc m -MIBI myocardial perfusion imaging is valuable in assessing patients with hypertrophic cardiomyopathy. Detection for the presence or absence of coexisting coronary artery disease and myocardial ischemia has an important prognostic indication and management indication for these patients. (authors)

  8. Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome

    Directory of Open Access Journals (Sweden)

    Lutgardo García-Díaz

    2013-01-01

    Full Text Available A case of prenatally diagnosed fetal hypertrophic cardiomyopathy is reported. The mother was referred to our department at 37 weeks' gestation because of suspected congenital heart disease. Prenatal echocardiography showed biventricular hypertrophy and pericardial effusion, without additional abnormalities. Postnatal echocardiography confirmed prenatal diagnosis. Neonatal EKG showed biventricular hypertrophy and Wolff-Parkinson-White syndrome. Skeletal muscle biopsy was consistent with mitochondrial oxidative phosphorylation defect involving a combined defect of respiratory complexes I and IV. Echocardiographic followup during the first year of life showed progressive regression of hypertrophy and evolution to left ventricular myocardial noncompaction.

  9. Nuclear magnetic resonance imaging in patients with hypertrophic and dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Boisvieux, A.

    1987-01-01

    Patients with hypertrophic and dilated cardiomyopathy and normal subjects were investigated with nuclear magnetic resonance imaging. To evaluate the NMR scanner possibilities, the results were compared with the echocardiographic investigation of the same patients. The capabilities of NMR imaging to provide information about intracardiac anatomy are emphasized. This study is preceded by a description of the physical principles underlying the phenomenon of nuclear magnetic resonance and of the techniques used to obtain NMR images and a review of the clinical use of NMR imaging for cardiac diagnosis [fr

  10. Hypertrophic Cardiomyopathy After a Single Dose of Dexamethasone in a Preterm Infant

    Directory of Open Access Journals (Sweden)

    Yusuf Kale

    2015-08-01

    Full Text Available Dexamethasone is widely used in preterm infants with severe pulmonary disease. Hypertrophic cardiomyopathy (HCM is a transient side effect observed after multiple doses of dexamethasone. We report a preterm infant with myocardial hypertrophy after a single dose of dexamethasone (0.5 mg/kg used to treat laryngeal edema secondary to prolonged intubation. A benign course was observed without left ventricular outflow tract obstruction and with recovery within 4 weeks. Myocardial effects of dexamethasone may be independent of dose and duration of treatment. The risk/benefit ratio must be carefully considered before using even a single dose of dexamethasone in preterm infants.

  11. Radiofrequency ablation of fast ventricular tachycardia causing an ICD storm in an infant with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ergul, Yakup; Ozyilmaz, Isa; Bilici, Meki; Ozturk, Erkut; Haydin, Sertaç; Guzeltas, Alper

    2018-04-01

    An implantable cardioverter defibrillator (ICD) storm involves very frequent arrhythmia episodes and ICD shocks, and it is associated with poor short-term and long-term prognosis. Radiofrequency catheter ablation can be used as an effective rescue treatment for patients with an ICD storm. To our knowledge, this is the first report of an infant with hypertrophic cardiomyopathy presenting with an ICD storm and undergoing successful radiofrequency catheter ablation salvage treatment for the fast left posterior fascicular ventricular tachycardia. © 2017 Wiley Periodicals, Inc.

  12. Prognostic significance of radionuclide-assessed diastolic function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Chikamori, T.; Dickie, S.; Poloniecki, J.D.; Myers, M.J.; Lavender, J.P.; McKenna, W.J.

    1990-01-01

    To evaluate the prognostic significance of diastolic function in hypertrophic cardiomyopathy (HC), technetium-99m gated equilibrium radionuclide angiography, acquired in list mode, was performed in 161 patients. Five diastolic indexes were calculated. During 3.0 +/- 1.9 years, 13 patients had disease-related deaths. With univariate analysis, these patients were younger (29 +/- 20 vs 42 +/- 16 years; p less than 0.05), had a higher incidence of syncope (p less than 0.025), dyspnea (p less than 0.001), reduced peak filling rate (2.9 +/- 0.9 vs 3.4 +/- 1.0 end-diastolic volume/s; p = 0.09) with increased relative filling volume during the rapid filling period (80 +/- 7 vs 75 +/- 12%; p = 0.06) and decreased atrial contribution (17 +/- 7 vs 22 +/- 11%; p = 0.07). Stepwise discriminant analysis revealed that young age at diagnosis, syncope at diagnosis, reduced peak ejection rate, positive family history, reduced peak filling rate, increased relative filling volume by peak filling rate and concentric left ventricular hypertrophy were the most statistically significant (p = 0.0001) predictors of disease-related death (sensitivity 92%, specificity 76%, accuracy 77%, positive predictive value 25%). Discriminant analysis excluding the diastolic indexes, however, showed similar predictability (sensitivity 92%, specificity 76%, accuracy 78%, positive predictive value 26%). To obtain more homogeneous groups for analysis, patients were classified as survivors or electrically unstable, including sudden death, out-of-hospital ventricular fibrillation and nonsustained ventricular tachycardia during 48-hour ambulatory electrocardiography, and heart failure death or cardiac transplant

  13. Prevalence and Impact of Coexistent Bicuspid Aortic Valve in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Padang, Ratnasari; Gersh, Bernard J; Ommen, Steve R; Geske, Jeffrey B

    2018-01-01

    The association between bicuspid aortic valve (BAV) and hypertrophic cardiomyopathy (HCM) has been reported but its true prevalence is unknown. This study investigated the prevalence and clinical impact of coexistent BAV in a large referral HCM population. Retrospective analysis of 3765 echocardiograms between 2004 and 2014 in 2640 consecutive patients with HCM was performed to assess for BAV. Patients with coexistent conditions were studied. Twenty-three patients (0.9%) were identified with coexisting BAV and HCM. Mean age was 52±16years, 18 males (78%), 16 with NYHA functional class I/II at initial evaluation (70%). A family history of HCM was present in five patients (22%); none had a family history of BAV or aortopathy. Maximal left ventricular wall thickness was 24±6mm; the majority had either reverse curve or sigmoid septal morphology. Moderate or greater aortic valve dysfunction was present in seven patients (30%), BAV-related aortopathy in 18 patients (78%) and dynamic left ventricular outflow tract (LVOT) obstruction in nine patients (39%). Three patients had combined LVOT obstruction and aortic stenosis. Median time from diagnosis of BAV or HCM to last follow-up was 11±12.5years. At last follow-up, 22% had undergone BAV-related surgeries, 30% had septal reduction therapy (SRT), and 17% had combined SRT and BAV-related surgeries. Overall survival was 95% at 10 years. This study reported a 0.9% prevalence of BAV among HCM population, similar to the general population. Aortopathy and LVOT obstruction were common, necessitating cardiac interventions in over one-third of cases. Long-term survival appeared favourable. Copyright © 2017 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  14. Invasive assessment of coronary microvascular dysfunction in hypertrophic cardiomyopathy: the index of microvascular resistance

    International Nuclear Information System (INIS)

    Gutiérrez-Barrios, Alejandro; Camacho-Jurado, Francisco; Díaz-Retamino, Enrique; Gamaza-Chulián, Sergio; Agarrado-Luna, Antonio; Oneto-Otero, Jesús; Del Rio-Lechuga, Ana; Benezet-Mazuecos, Javier

    2015-01-01

    Summary: We present a review of microvascular dysfunction in hypertrophic cardiomyopathy (HCM) and an interesting case of a symptomatic familial HCM patient with inducible ischemia by single photon emission computed tomography. Coronary angiography revealed normal epicardial arteries. Pressure wire measurements of fractional flow reserve (FFR), coronary flow reserve (CFR) and index of microvascular resistance (IMR) demonstrated a significant microcirculatory dysfunction. This is the first such case that documents this abnormality invasively using the IMR. The measurement of IMR, a novel marker of microcirculatory dysfunction, provides novel insights into the pathophysiology of this condition. - Highlights: • Microvascular dysfunction is a common feature in hypertrophic cardiomyopathy (HCM) and represents a strong predictor of unfavorable outcome and cardiovascular mortality. • The index of microvascular resistance (IMR) is a new method for invasively assessing the state of the coronary microcirculation using a single pressure-temperature sensor-tipped coronary wire. • However assessment of IMR in HCM has not been previously reported. We report a case in which microvascular dysfunction is assessed by IMR. This index may be useful in future researches of HCM.

  15. Percutaneous Septal Ablation in Hypertrophic Obstructive Cardiomyopathy: From Experiment to Standard of Care

    Directory of Open Access Journals (Sweden)

    Lothar Faber

    2014-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is one of the more common hereditary cardiac conditions. According to presence or absence of outflow obstruction at rest or with provocation, a more common (about 60–70% obstructive type of the disease (HOCM has to be distinguished from the less common (30–40% nonobstructive phenotype (HNCM. Symptoms include exercise limitation due to dyspnea, angina pectoris, palpitations, or dizziness; occasionally syncope or sudden cardiac death occurs. Correct diagnosis and risk stratification with respect to prophylactic ICD implantation are essential in HCM patient management. Drug therapy in symptomatic patients can be characterized as treatment of heart failure with preserved ejection fraction (HFpEF in HNCM, while symptoms and the obstructive gradient in HOCM can be addressed with beta-blockers, disopyramide, or verapamil. After a short overview on etiology, natural history, and diagnostics in hypertrophic cardiomyopathy, this paper reviews the current treatment options for HOCM with a special focus on percutaneous septal ablation. Literature data and the own series of about 600 cases are discussed, suggesting a largely comparable outcome with respect to procedural mortality, clinical efficacy, and long-term outcome.

  16. Invasive assessment of coronary microvascular dysfunction in hypertrophic cardiomyopathy: the index of microvascular resistance

    Energy Technology Data Exchange (ETDEWEB)

    Gutiérrez-Barrios, Alejandro, E-mail: aleklos@hotmail.com [Cardiology Department, Jerez Hospital, Jerez (Spain); Camacho-Jurado, Francisco [Cardiology Department, Punta Europa Hospital, Algeciras (Spain); Díaz-Retamino, Enrique; Gamaza-Chulián, Sergio; Agarrado-Luna, Antonio; Oneto-Otero, Jesús; Del Rio-Lechuga, Ana; Benezet-Mazuecos, Javier [Cardiology Department, Jerez Hospital, Jerez (Spain)

    2015-10-15

    Summary: We present a review of microvascular dysfunction in hypertrophic cardiomyopathy (HCM) and an interesting case of a symptomatic familial HCM patient with inducible ischemia by single photon emission computed tomography. Coronary angiography revealed normal epicardial arteries. Pressure wire measurements of fractional flow reserve (FFR), coronary flow reserve (CFR) and index of microvascular resistance (IMR) demonstrated a significant microcirculatory dysfunction. This is the first such case that documents this abnormality invasively using the IMR. The measurement of IMR, a novel marker of microcirculatory dysfunction, provides novel insights into the pathophysiology of this condition. - Highlights: • Microvascular dysfunction is a common feature in hypertrophic cardiomyopathy (HCM) and represents a strong predictor of unfavorable outcome and cardiovascular mortality. • The index of microvascular resistance (IMR) is a new method for invasively assessing the state of the coronary microcirculation using a single pressure-temperature sensor-tipped coronary wire. • However assessment of IMR in HCM has not been previously reported. We report a case in which microvascular dysfunction is assessed by IMR. This index may be useful in future researches of HCM.

  17. Merits and pitfalls of genetic testing in a hypertrophic cardiomyopathy clinic.

    Science.gov (United States)

    Arad, Michael; Monserrat, Lorenzo; Haron-Khun, Shiraz; Seidman, Jonathan G; Seidman, Christine E; Arbustini, Eloisa; Glikson, Michael; Freimark, Dov

    2014-11-01

    Hypertrophic cardiomyopathy (HCM) is a familial disease with autosomal dominant inheritance and age-dependent penetrance, caused primarily by mutations of sarcomere genes. Because the clinical variability of HCM is related to its genetic heterogeneity, genetic studies may improve the diagnosis and prognostic evaluation in HCM. To analyze the impact of genetic diagnosis on the clinical management of HCM. Genetic studies were performed for either research or clinical reasons. Once the disease-causing mutation was identified, the management plan was reevaluated. Family members were invited to receive genetic counseling and encouraged to be tested for the mutation. Ten mutations in sarcomere protein genes were identified in 9 probands: 2 novel and 8 previously described. Advanced heart failure or sudden death in a young person prompted the genetic study in 8 of the 9 families. Of 98 relatives available for genotyping, only 53 (54%) agreed to be tested. The compliance was higher in families with sudden death and lower in what appeared to be sporadic HCM or elderly-onset disease. Among the healthy we identified 9 carriers and 19 non-carriers. In 6 individuals the test result resolved an uncertainty about "possible HCM." In several cases the genetic result was also used for family planning and played a role in decisions on cardioverter-defibrillator implantation. Recurrence of a same mutation in different families created an opportunity to apply the information from the literature for risk stratification of individual patients. We suggest that the clinical context determines the indication for genetic testing and interpretation of the results.

  18. Implantable Cardioverter-defibrillator Therapy for Hypertrophic Cardiomyopathy: Usefulness in Primary and Secondary Prevention.

    Science.gov (United States)

    Sarrias, Axel; Galve, Enrique; Sabaté, Xavier; Moya, Àngel; Anguera, Ignacio; Núñez, Elaine; Villuendas, Roger; Alcalde, Óscar; García-Dorado, David

    2015-06-01

    Hypertrophic cardiomyopathy is a frequent cause of sudden death. Clinical practice guidelines indicate defibrillator implantation for primary prevention in patients with 1 or more risk factors and for secondary prevention in patients with a history of aborted sudden death or sustained ventricular arrhythmias. The aim of the present study was to analyze the follow-up of patients who received an implantable defibrillator following the current guidelines in nonreferral centers for this disease. This retrospective observational study included all patients who underwent defibrillator implantation between January 1996 and December 2012 in 3 centers in the province of Barcelona. The study included 69 patients (mean age [standard deviation], 44.8 [17] years; 79.3% men), 48 in primary prevention and 21 in secondary prevention. The mean number of risk factors per patient was 1.8 in the primary prevention group and 0.5 in the secondary prevention group (P=.029). The median follow-up duration was 40.5 months. The appropriate therapy rate was 32.7/100 patient-years in secondary prevention and 1.7/100 patient-years in primary prevention (P<.001). Overall mortality was 10.1%. Implant-related complications were experienced by 8.7% of patients, and 13% had inappropriate defibrillator discharges. In patients with a defibrillator for primary prevention, the appropriate therapy rate is extremely low, indicating the low predictive power of the current risk stratification criteria. Copyright © 2014 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  19. Abnormal myocardial capillary density in apical hypertrophic cardiomyopathy can be assessed by myocardial contrast echocardiography

    International Nuclear Information System (INIS)

    Moon, Jeonggeun; Cho, In-Jeong; Shim, Chi-Young; Ha, Jong-Won; Jang, Yangsoo; Chung, Namsik; Rim, Se-Joong

    2010-01-01

    Myocardial ischemia and dysfunction can occur in hypertrophic cardiomyopathy (HCM) because of the high muscle-to-blood ratio, even without significant coronary artery disease. Microbubbles reside only in the intravascular space and myocardial video-intensity during systole results mostly from microbubbles within capillaries. The hypothesis explored in the present study was that an abnormal capillary density in apical HCM (ApHCM) can be demonstrated using myocardial contrast echocardiography (MCE). The 56 patients were investigated (31 males, age 58±9 years; 33 ApHCM, 9 hypertensive left ventricular hypertrophy [LVH], 14 controls). MCE was performed with low-mechanical-index power modulation imaging. Tissue Doppler imaging to assess myocardial contractile function was obtained at the mitral annulus (S'), and 99m Tc-MIBI single photon emission computed tomography (SPECT) was also performed. All ApHCM patients exhibited perfusion defects at the hypertrophied segments in the systolic phase during MCE, whereas SPECT showed normal or rather increased perfusion at those sites. The cyclic variation of video-intensity was exaggerated in ApHCM when compared with the LVH or control group (% of [systolic video-intensity]/[diastolic video-intensity]: 33.0±12.3%, 88.3±19.2% and 79.4±13.9%, respectively [P<0.05]). Concurrently, MCE cyclic variation and perfusion defect size were related to decreased S' (P<0.05 for all). A perfusion defect at the hypertrophied segment, representing abnormal myocardial capillary density, was observed in ApHCM patients during MCE. The extent of MCE cyclic variation and the perfusion defect size both correlate with decreased myocardial contractile property in ApHCM. (author)

  20. Factors Influencing the Phenotypic Expression of Hypertrophic Cardiomyopathy in Genetic Carriers.

    Science.gov (United States)

    Pérez-Sánchez, Inmaculada; Romero-Puche, Antonio José; García-Molina Sáez, Esperanza; Sabater-Molina, María; López-Ayala, José María; Muñoz-Esparza, Carmen; López-Cuenca, David; de la Morena, Gonzalo; Castro-García, Francisco José; Gimeno-Blanes, Juan Ramón

    2018-03-01

    Hypertrophic cardiomyopathy (HCM) is a disorder with variable expression. It is mainly caused by mutations in sarcomeric genes but the phenotype could be modulated by other factors. The aim of this study was to determine whether factors such as sex, systemic hypertension, or physical activity are modifiers of disease severity and to establish their role in age-related penetrance of HCM. We evaluated 272 individuals (mean age 49 ± 17 years, 57% males) from 72 families with causative mutations. The relationship between sex, hypertension, physical activity, and left ventricular hypertrophy was studied. The proportion of affected individuals increased with age. Men developed the disease 12.5 years earlier than women (adjusted median, 95%CI, -17.52 to -6.48; P < .001). Hypertensive patients were diagnosed with HCM later (10.8 years of delay) than normotensive patients (adjusted median, 95%CI, 6.28-17.09; P < .001). Individuals who performed physical activity were diagnosed with HCM significantly earlier (7.3 years, adjusted median, 95%CI, -14.49 to -1.51; P = .016). Sex, hypertension, and the degree of physical activity were not significantly associated with the severity of left ventricular hypertrophy. Adjusted survival both free from sudden death and from the combined event were not influenced by any of the exploratory variables. Men and athletes who are carriers of sarcomeric mutations are diagnosed earlier than women and sedentary individuals. Hypertensive carriers of sarcomeric mutations have a delayed diagnosis. Sex, hypertension, and physical activity are not associated with disease severity in carriers of HCM causative mutations. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  1. Physical activity in hypertrophic cardiomyopathy: prevalence of inactivity and perceived barriers

    Science.gov (United States)

    Sweeting, Joanna; Ingles, Jodie; Timperio, Anna; Patterson, Jillian; Ball, Kylie; Semsarian, Christopher

    2016-01-01

    Objectives This study aimed to determine the prevalence of physical inactivity and perceived barriers to physical activity among individuals with hypertrophic cardiomyopathy (HCM), and to determine potential demographic, clinical and health-related factors influencing likelihood of meeting physical activity guidelines. Methods This was a cross-sectional study of consecutive patients (n=198) with HCM attending a specialist HCM centre from July 2014 to November 2015. The primary outcome measure was physical activity (minutes per day), as measured by self-report (International Physical Activity Questionnaire (IPAQ)) and objective means (ActiGraph accelerometer). For both, participants were classified as meeting guidelines if they did at least 150 min per week of physical activity. Quality of life (Short Form-36 V.2, SF-36v2), barriers to exercise and clinical–demographic data were also collected. Results In total, 54.8% of participants did not meet physical activity recommendations based on IPAQ, and 12.7% did not meet guidelines based on accelerometer data. The most commonly identified barriers to exercise were ‘pain interferes with my exercise’ (33%) and ‘I have an injury/disability that stops me’ (29%). Independent factors associated with meeting guidelines included older age (OR 0.66, 95% CI 0.51 to 0.85, p=0.002), higher education level (OR 2.31, 95% CI 1.08 to 4.93, p=0.03), better physical quality of life (OR 1.05, 95% CI 1.0 to 1.09, p=0.05) and more reported barriers (OR 0.71, 95% CI 0.56 to 0.91, p=0.01). Conclusions More than half of the patients with HCM did not meet minimum physical activity recommendations. Several barriers to exercise among individuals with HCM exist, and provide the basis for targeted interventions to promote physical activity and improve overall health in patients with HCM. PMID:27547438

  2. Late enhanced computed tomography in Hypertrophic Cardiomyopathy enables accurate left-ventricular volumetry

    Energy Technology Data Exchange (ETDEWEB)

    Langer, Christoph; Lutz, M.; Kuehl, C.; Frey, N. [Christian-Albrechts-Universitaet Kiel, Department of Cardiology, Angiology and Critical Care Medicine, University Medical Center Schleswig-Holstein (Germany); Partner Site Hamburg/Kiel/Luebeck, DZHK (German Centre for Cardiovascular Research), Kiel (Germany); Both, M.; Sattler, B.; Jansen, O; Schaefer, P. [Christian-Albrechts-Universitaet Kiel, Department of Diagnostic Radiology, University Medical Center Schleswig-Holstein (Germany); Harders, H.; Eden, M. [Christian-Albrechts-Universitaet Kiel, Department of Cardiology, Angiology and Critical Care Medicine, University Medical Center Schleswig-Holstein (Germany)

    2014-10-15

    Late enhancement (LE) multi-slice computed tomography (leMDCT) was introduced for the visualization of (intra-) myocardial fibrosis in Hypertrophic Cardiomyopathy (HCM). LE is associated with adverse cardiac events. This analysis focuses on leMDCT derived LV muscle mass (LV-MM) which may be related to LE resulting in LE proportion for potential risk stratification in HCM. N=26 HCM-patients underwent leMDCT (64-slice-CT) and cardiovascular magnetic resonance (CMR). In leMDCT iodine contrast (Iopromid, 350 mg/mL; 150mL) was injected 7 minutes before imaging. Reconstructed short cardiac axis views served for planimetry. The study group was divided into three groups of varying LV-contrast. LeMDCT was correlated with CMR. The mean age was 64.2 ± 14 years. The groups of varying contrast differed in weight and body mass index (p < 0.05). In the group with good LV-contrast assessment of LV-MM resulted in 147.4 ± 64.8 g in leMDCT vs. 147.1 ± 65.9 in CMR (p > 0.05). In the group with sufficient contrast LV-MM appeared with 172 ± 30.8 g in leMDCT vs. 165.9 ± 37.8 in CMR (p > 0.05). Overall intra-/inter-observer variability of semiautomatic assessment of LV-MM showed an accuracy of 0.9 ± 8.6 g and 0.8 ± 9.2 g in leMDCT. All leMDCT-measures correlated well with CMR (r > 0.9). LeMDCT primarily performed for LE-visualization in HCM allows for accurate LV-volumetry including LV-MM in > 90 % of the cases. (orig.)

  3. Clinical Spectrum and Management of Heart Failure in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Udelson, James E; Maron, Martin S

    2018-05-01

    Heart failure (HF), characterized by excessive exertional dyspnea, is a common complication within the broad clinical spectrum of hypertrophic cardiomyopathy (HCM). HF has become an increasingly prominent management issue with the reduction in sudden deaths due to use of implantable defibrillators in this disease. Exertional dyspnea ranges in severity from mild to severe (New York Heart Association functional classes II to IV) and not uncommonly becomes refractory to medical management, leading to progressive disability, but largely in the absence of pulmonary congestion and volume overload requiring hospitalization. HCM-related HF is most commonly due to dynamic mechanical impedance to left ventricular outflow produced by mitral valve systolic anterior motion, leading to high intracavity pressures. Surgical septal myectomy with low operative mortality (<1%) produces HF reversal and symptom relief in 90% to 95% of patients, while also conveying a survival benefit. Exercise echocardiography has assumed an important role in the evaluation of patients with HCM, i.e., by identifying candidates for septal reduction therapy with refractory HF when outflow gradients are present only with physiological exercise, distinguishing highly symptomatic nonobstructive patients as heart transplant candidates, and predicting future development of progressive HF. Notably, mortality directly attributable to HF has become exceedingly uncommon in HCM (<0.5%/year) in contrast with HF in non-HCM diseases (by 20-fold). In conclusion, HF in HCM is associated with diverse and complex pathophysiology, but a substantially more favorable prognosis than conventional non-HCM HF, and highly amenable to effective treatment options in the vast majority of patients. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  4. Myocardial perfusion abnormality and chest pain in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Narita, Michihiro; Kurihara, Tadashi; Murano, Kenichi; Usami, Masahisa

    1991-01-01

    To investigate the role of myocardial ischemia in the development of chest pain in patients with hypertrophic cardiomyopathy (HCM), exercise stress (Ex) redistribution myocardial single photon emission CT's (SPECT's) with thallium-201 (Tl) were obtained in 27 patients with HCM. In all patients, coronary arteries were normal arteriographically. Patients were classified into NYHA Class I, II and III according to the frequency and severity of the chest pain during daily life. In these 3 groups, age, sex and intraventricular septal thickness measured by echocardiography were not different. Types of myocardial perfusion obtained by myocardial SPECT's were divided into 5: (1) normal perfusion, (2) no perfusion defect with abnormal myocardial Tl washout rate (WOR) during 3 hours (<30%) [Def(-)/WORabn], (3) reversible perfusion defect (RD), (4) fixed defect with abnormal WOR (FD/WORabn), and (5) fixed defect with normal WOR (FD/WORnl). In 14 patients of Class I, 9 patients (64%) showed normal perfusion but the rest showed perfusion abnormality (def(-)/WORabn in 3 and RD in 2). In Class II and III, all patients showed perfusion abnormalities of RD, FD/WORabn or FD/WORnl. As the functional class progressed from Class II to III, the ratio of fixed defect (both WORnl and WORabn) to RD increased, but it was not statistically significant. In 2 patients in whom Ex SPECT's were repeated because of the progression of the chest pain, the severity of the perfusion abnormality also progressed. Perfusion abnormalities were observed most frequently in anterior (35%), then inferior/posterior (20%) and septal wall (18%). The frequency of Ex induced ECG abnormalities (ST-depression or T wave changes) increased as the NYHA Class progressed (Class III vs I p<0.05). These findings suggested the following: chest pain in patients with HCM relates to the myocardial ischemia which may originate in the myocardial small arteries, and when the lesions progress myocardial necrosis may ensue. (author)

  5. Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: A cross-sectional cohort study

    NARCIS (Netherlands)

    Christiaans, Imke; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Wilde, Arthur A.M.; Smets, Ellen M.A.

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with heart failure and sudden death.Quality of life and psychological distress were found to be impaired in HCM patients but have never been assessed in mutationcarriers, with or without manifest HCM. We aimed to

  6. Validation of the HCM Risk-SCD model in patients with hypertrophic cardiomyopathy following alcohol septal ablation

    DEFF Research Database (Denmark)

    Liebregts, Max; Faber, Lothar; Jensen, Morten K

    2018-01-01

    Aims: The HCM Risk-SCD model for prediction of sudden cardiac death (SCD) in hypertrophic cardiomyopathy recommended by the 2014 European Society of Cardiology (ESC) guidelines has not been validated after septal reduction therapy. The aim of this study was to validate the HCM Risk-SCD model...

  7. Prevalence of exercise-induced left ventricular outflow tract obstruction in symptomatic patients with non-obstructive hypertrophic cardiomyopathy.

    LENUS (Irish Health Repository)

    Shah, J S

    2008-10-01

    Resting left ventricular outflow tract obstruction (LVOTO) occurs in 25% of patients with hypertrophic cardiomyopathy (HCM) and is an important cause of symptoms and disease progression. The prevalence and clinical significance of exercise induced LVOTO in patients with symptomatic non-obstructive HCM is uncertain.

  8. Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes.

    Science.gov (United States)

    Francisco, Ana Rita G; Santos Gonçalves, Inês; Veiga, Fátima; Mendes Pedro, Mónica; Pinto, Fausto J; Brito, Dulce

    2017-09-01

    The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defects. Some mutations, associated with lipodystrophy but not cardiomyopathy, have been linked to metabolic abnormalities such as diabetes and severe dyslipidemia. Herein we describe a new phenotype associated with a mutation in exon 11 of the LMNA gene: hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes. A 64-year-old woman with hypertrophic cardiomyopathy and a point mutation in exon 11 of the LMNA gene (c.1718C>T, Ser573Leu) presented with severe symptomatic ventricular hypertrophy and left ventricular outflow tract obstruction. She underwent septal alcohol ablation, followed by Morrow myectomy. The patient was also diagnosed with severe dyslipidemia, diabetes and obesity, and fulfilled diagnostic criteria for metabolic syndrome. No other characteristics of LMNA mutation-related phenotypes were identified. The development of type III atrioventricular block with no apparent cause, and mildly depressed systolic function, prompted referral for cardiac resynchronization therapy. In conclusion, the association between LMNA mutations and different phenotypes is complex and not fully understood, and can present with a broad spectrum of severity. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

  9. A Meta-analysis on the correlation between the polymorphism of angiotensin converting enzyme gene and hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ling CHEN

    2014-01-01

    Full Text Available Objective To systematically investigate the correlation between the polymorphism of angiotensin converting enzyme (ACE gene I/D and hypertrophic cardiomyopathy. Methods The databases, such as PubMed, Embase, OVID, Web of Science, Cochrane library, CNKI, WanFang Data and VIP, were searched to collect the studies on the correlation between ACE I/D polymorphism and hypertrophic cardiomyopathy susceptibility. Studies that met the inclusion criteria were Meta-analyzed using Stata 11.0 software. Results Fifteen articles were collected including 1114 cases and 1648 controls. The Meta-analysis indicated that there was significant correlation between the 4 models of ACE I/D polymorphism and hypertrophic cardiomyopathy susceptibility [D vs I: OR=1.49, 95%CI (1.20, 1.84; DD vs (ID+II: OR=1.56, 95%CI (1.17, 2.08; (DD+ID vs II: OR=1.76, 95%CI (1.30, 2.38; DD vs II: OR=2.20, 95%CI (1.44, 3.37]. In subgroup analysis, the significant difference existed in Asian population, but no significance was found in European population (P<0.05. Conclusions There is a positive correlation between hypertrophic cardiomyopathy and ACE I/D polymorphism in population, and D allele and DD genotype are likely to be the risk factors of hypertrophic cardiomyopathy. But such correlation does not exist in European population. DOI: 10.11855/j.issn.0577-7402.2013.12.07

  10. Identifying unmet clinical need in hypertrophic cardiomyopathy using national electronic health records.

    Directory of Open Access Journals (Sweden)

    Mar Pujades-Rodriguez

    Full Text Available To evaluate unmet clinical need in unselected hypertrophic cardiomyopathy (HCM patients to determine the risk of a wide range of subsequent cardiovascular disease endpoints and safety endpoints relevant for trial design.Population based cohort (CALIBER, linked primary care, hospital and mortality records in England, period 1997-2010, all people diagnosed with HCM were identified and matched by age, sex and general practice with ten randomly selected people without HCM. Random-effects Poisson models were used to assess the associations between HCM and cardiovascular diseases and bleeding.Among 3,290,455 eligible people a diagnosis of hypertrophic cardiomyopathy was found in 4 per 10,000. Forty-one percent of the 1,160 individuals with hypertrophic cardiomyopathy were women and the median age was 57 years. The median follow-up was 4.0 years. Compared to general population controls, people with HCM had higher risk of ventricular arrhythmia (incidence rate ratio = 23.53, [95% confidence interval 12.67-43.72], cardiac arrest or sudden cardiac death (6.33 [3.69-10.85], heart failure (4.31, [3.30-5.62], and atrial fibrillation (3.80 [3.04-4.75]. HCM was also associated with a higher incidence of myocardial infarction ([MI] 1.90 [1.27-2.84] and coronary revascularisation (2.32 [1.46-3.69].The absolute Kaplan-Meier risks at 3 years were 8.8% for the composite endpoint of cardiovascular death or heart failure, 8.4% for the composite of cardiovascular death, stroke or myocardial infarction, and 1.5% for major bleeding.Our study identified major unmet need in HCM and highlighted the importance of implementing improved cardiovascular prevention strategies to increase life-expectancy of the contemporary HCM population. They also show that national electronic health records provide an effective method for identifying outcomes and clinically relevant estimates of composite efficacy and safety endpoints essential for trial design in rare diseases.

  11. Identifying unmet clinical need in hypertrophic cardiomyopathy using national electronic health records.

    Science.gov (United States)

    Pujades-Rodriguez, Mar; Guttmann, Oliver P; Gonzalez-Izquierdo, Arturo; Duyx, Bram; O'Mahony, Constantinos; Elliott, Perry; Hemingway, Harry

    2018-01-01

    To evaluate unmet clinical need in unselected hypertrophic cardiomyopathy (HCM) patients to determine the risk of a wide range of subsequent cardiovascular disease endpoints and safety endpoints relevant for trial design. Population based cohort (CALIBER, linked primary care, hospital and mortality records in England, period 1997-2010), all people diagnosed with HCM were identified and matched by age, sex and general practice with ten randomly selected people without HCM. Random-effects Poisson models were used to assess the associations between HCM and cardiovascular diseases and bleeding. Among 3,290,455 eligible people a diagnosis of hypertrophic cardiomyopathy was found in 4 per 10,000. Forty-one percent of the 1,160 individuals with hypertrophic cardiomyopathy were women and the median age was 57 years. The median follow-up was 4.0 years. Compared to general population controls, people with HCM had higher risk of ventricular arrhythmia (incidence rate ratio = 23.53, [95% confidence interval 12.67-43.72]), cardiac arrest or sudden cardiac death (6.33 [3.69-10.85]), heart failure (4.31, [3.30-5.62]), and atrial fibrillation (3.80 [3.04-4.75]). HCM was also associated with a higher incidence of myocardial infarction ([MI] 1.90 [1.27-2.84]) and coronary revascularisation (2.32 [1.46-3.69]).The absolute Kaplan-Meier risks at 3 years were 8.8% for the composite endpoint of cardiovascular death or heart failure, 8.4% for the composite of cardiovascular death, stroke or myocardial infarction, and 1.5% for major bleeding. Our study identified major unmet need in HCM and highlighted the importance of implementing improved cardiovascular prevention strategies to increase life-expectancy of the contemporary HCM population. They also show that national electronic health records provide an effective method for identifying outcomes and clinically relevant estimates of composite efficacy and safety endpoints essential for trial design in rare diseases.

  12. Atrioventricular conduction after alcohol septal ablation for obstructive hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Axelsson, Anna; Weibring, Kristina; Havndrup, Ole

    2014-01-01

    .1-9.4) after ASA. Patients with high-grade atrioventricular block at follow-up had longer PR intervals at baseline [205 ms (200-230)] than the rest of the cohort [180 ms (140-200), P = 0.004] and a higher incidence of acute complete heart block (63 vs. 15%; P = 0.007) during ASA. A PR interval of at least 200...... ms at baseline was associated with higher prevalence of high-grade atrioventricular block at follow-up (30 vs. 2%; P = 0.0013). The incidence of late-onset complete heart block was 1.5% per year after ASA. CONCLUSION: We found normalized atrioventricular conduction at long-term follow-up, suggesting...... recovery in 6 of 14 patients with a pacemaker implanted in relation to ASA. Permanent atrioventricular conduction abnormalities were associated with baseline PR intervals of at least 200 ms and acute persistent complete heart block during ASA....

  13. Cardiac magnetic resonance and computed tomography in hypertrophic cardiomyopathy: an update

    Energy Technology Data Exchange (ETDEWEB)

    Oliveira, Diogo Costa Leandro de; Assunção, Fernanda Boldrini; Santos, Alair Agusto Sarmet Moreira Damas dos; Nacif, Marcelo Souto, E-mail: diogocloliveira@hotmail.com, E-mail: diogocloliveira@gmail.com [Universidade Federal Fluminense (UFF), Niterói, Rio de Janeiro, RJ (Brazil)

    2016-08-15

    Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease and represents the main cause of sudden death in young patients. Cardiac magnetic resonance (CMR) and cardiac computed tomography (CCT) are noninvasive imaging methods with high sensitivity and specificity, useful for the establishment of diagnosis and prognosis of HCM, and for the screening of patients with subclinical phenotypes. The improvement of image analysis by CMR and CCT offers the potential to promote interventions aiming at stopping the natural course of the disease. This study aims to describe the role of RCM and CCT in the diagnosis and prognosis of HCM, and how these methods can be used in the management of these patients. (author)

  14. [Hypertrophic cardiomyopathy showing no 123I-BMIPP myocardial accumulation with type I CD36 deficiency].

    Science.gov (United States)

    Watanabe, K; Miyajima, S; Kusano, Y; Tanabe, N; Hirokawa, Y

    1997-07-01

    A 57 years old male consulted our hospital in complaining chest oppression and short of breath. Familial and dilated phase hypertrophic cardiomyopathy (HCM) was detected by ECG, echocardiography, left ventriculography and left ventricular endomyocardial biopsy. 201T1 SPECT showed regional increased accumulation in the ventricular septum, however, no myocardial accumulation of 123I-beta-methyl-p-iodophenylpentadecanoic acid (123I-BMIPP) was observed. We analyzed CD36 in this patient, and found he had type 1 CD36 deficiency. Myocardial uptake of long-chain fatty acids occurs via a specific transporter, which is homologous with human CD36. We hypothesize that CD36 deficiency, especially type 1 CD36 deficiency, might be one factor of no myocardial 123I-BMIPP uptake.

  15. Clinical long-term outcome of septal myectomy for obstructive hypertrophic cardiomyopathy in infants.

    Science.gov (United States)

    Schleihauf, Julia; Cleuziou, Julie; Pabst von Ohain, Jelena; Meierhofer, Christian; Stern, Heiko; Shehu, Nerejda; Mkrtchyan, Naira; Kaltenecker, Emanuel; Kühn, Andreas; Nagdyman, Nicole; Hager, Alfred; Seidel, Heide; Lange, Rüdiger; Ewert, Peter; Wolf, Cordula M

    2018-03-01

    Surgical septal myectomy is performed to relieve left ventricular outflow tract narrowing in severe drug-refractory obstructive hypertrophic cardiomyopathy. The objective of this study was to assess the perioperative and long-term clinical outcome of this procedure performed during infancy. Clinical, transthoracic echocardiographic, electrocardiographic, 24-h Holter, cardiopulmonary exercise test and genetic data were extracted by medical record review. A subset of patients underwent additional prospective detailed clinical evaluation including cardiac magnetic resonance imaging with contrast. Surgery was performed in 23 paediatric patients between 1978 and 2015 at the German Heart Centre Munich. Twelve patients had undergone surgery during infancy (≤ 1 year) (Group A), 11 between 1 and 18 years of age (Group B). The underlying genetic diagnosis was Noonan syndrome spectrum and non-syndromic hypertrophic cardiomyopathy. As compared to Group B, patients in Group A showed more concomitant cardiac procedures and received more homologous transfusions. One perioperative death occurred in Group A, and none in Group B. Two patients in Group A but no patient in Group B required redo septal myectomy. The long-term clinical outcome was similar between the 2 groups. One patient in Group B required cardioverter-defibrillator/pacemaker implantation for higher degree atrioventricular block and none in Group A. There was no evidence of differences in myocardial fibrosis between groups on long-term follow-up magnetic resonance imaging. Surgical septal myectomy can be performed safely during infancy with favourable perioperative and long-term clinical outcome but with a trend towards a higher reoperation rate later in life. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  16. An International External Validation Study of the 2014 European Society of Cardiology Guideline on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (Evidence from HCM)

    DEFF Research Database (Denmark)

    O'Mahony, Constantinos; Jichi, Fatima; Ommen, Steve R

    2018-01-01

    Background -Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require prophylactic implantable cardioverter defibrillator (ICD) is challenging. In 2014, the European Society of Cardiology (ESC) proposed a new risk stratification meth...

  17. Clinical evaluation of sup 123 I-BMIPP myocardial scintigraphy in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Ohtsuki, Katsuichi; Sugihara, Hiroki; Umamoto, Ikuo (Kyoto Prefectural Univ. of Medicine (Japan)) (and others)

    1992-02-01

    {sup 123}I-{beta}-methyl-p-iodophenylpentadecanoic acid ({sup 123}I-BMIPP) myocardial scintigraphy was performed in 13 patients with hypertrophic cardiomyopathy and compared with {sup 201}Tl myocardial scintigraphy performed within 3 months for evaluating the clinical significance of {sup 123}I-BMIPP myocardial scintigraphy. SPECT images were divided into 13 segments and segmental images were visually scored on a 4 (increased tracer uptake) to 0 (severely decreased tracer uptake) scale according to the tracer uptake. In comparison of {sup 123}I-BMIPP early images and {sup 201}Tl perfusion images, mismatches were seen in about 70% of all segments. The number of segments demonstrating lower myocardial uptake of {sup 123}I-BMIPP was larger than that of {sup 201}Tl. In hypertrophic regions, the tracer uptake of {sup 123}I-BMIPP early images was significantly lower than that of {sup 201}Tl images and the lower uptake of {sup 123}I-BMIPP delayed images was more marked. In non-hypertrophic regions, no significant difference was seen between the tracer uptakes of {sup 123}I-BMIPP early images and {sup 201}Tl images but the tracer uptake of {sup 123}I-BMIPP delayed images was significantly lower than that of {sup 201}Tl images. The mismatch between the tracer uptakes of {sup 123}I-BMIPP images and {sup 201}Tl images was thought to be a reflection of disordered myocardial fatty acid metabolism. 'Washout', the difference between the tracer uptakes of {sup 123}I-BMIPP early images and delayed images was also thought to be a reflection of disordered myocardial fatty acid metabolism. These results suggest that {sup 123}I-BMIPP is a promising radiopharmaceutical for evaluating disordered myocardial fatty acid metabolism in patients with HCM. (author).

  18. Clinical evaluation of 123I-BMIPP myocardial scintigraphy in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Ohtsuki, Katsuichi; Sugihara, Hiroki; Umamoto, Ikuo

    1992-01-01

    123 I-β-methyl-p-iodophenylpentadecanoic acid ( 123 I-BMIPP) myocardial scintigraphy was performed in 13 patients with hypertrophic cardiomyopathy and compared with 201 Tl myocardial scintigraphy performed within 3 months for evaluating the clinical significance of 123 I-BMIPP myocardial scintigraphy. SPECT images were divided into 13 segments and segmental images were visually scored on a 4 (increased tracer uptake) to 0 (severely decreased tracer uptake) scale according to the tracer uptake. In comparison of 123 I-BMIPP early images and 201 Tl perfusion images, mismatches were seen in about 70% of all segments. The number of segments demonstrating lower myocardial uptake of 123 I-BMIPP was larger than that of 201 Tl. In hypertrophic regions, the tracer uptake of 123 I-BMIPP early images was significantly lower than that of 201 Tl images and the lower uptake of 123 I-BMIPP delayed images was more marked. In non-hypertrophic regions, no significant difference was seen between the tracer uptakes of 123 I-BMIPP early images and 201 Tl images but the tracer uptake of 123 I-BMIPP delayed images was significantly lower than that of 201 Tl images. The mismatch between the tracer uptakes of 123 I-BMIPP images and 201 Tl images was thought to be a reflection of disordered myocardial fatty acid metabolism. 'Washout', the difference between the tracer uptakes of 123 I-BMIPP early images and delayed images was also thought to be a reflection of disordered myocardial fatty acid metabolism. These results suggest that 123 I-BMIPP is a promising radiopharmaceutical for evaluating disordered myocardial fatty acid metabolism in patients with HCM. (author)

  19. Role of imaging in evaluation of sudden cardiac death risk in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Geske, Jeffrey B; Ommen, Steve R

    2015-09-01

    Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and is associated with sudden cardiac death (SCD) - an uncommon but devastating clinical outcome. This review is designed to assess the role of imaging in established risk factor assessment and its role in emerging SCD risk stratification. Recent publications have highlighted the crucial role of imaging in HCM SCD risk stratification. Left ventricular hypertrophy assessment remains the key imaging determinant of risk. Data continue to emerge on the role of systolic dysfunction, apical aneurysms, left atrial enlargement and left ventricular outflow tract obstruction as markers of risk. Quantitative assessment of delayed myocardial enhancement and T1 mapping on cardiac MRI continue to evolve. Recent multicenter trials have allowed multivariate SCD risk assessment in large HCM cohorts. Given aggregate risk with presence of multiple risk factors, a single parameter should not be used in isolation to determine implantable cardiac defibrillator candidacy. Use of all available imaging data, including cardiac magnetic resonance tissue characterization, allows a comprehensive approach to SCD stratification and implantable cardiac defibrillator decision-making.

  20. Myocarditis caused by Feline Immunodeficiency Virus in Five Cats with Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rolim, V Machado; Casagrande, R Assis; Wouters, A Terezinha Barth; Driemeier, D; Pavarini, S Petinatti

    2016-01-01

    Viral infections have been implicated as the cause of cardiomyopathy in several mammalian species. This study describes hypertrophic cardiomyopathy (HCM) and myocarditis associated with feline immunodeficiency virus (FIV) infection in five cats aged between 1 and 4 years. Clinical manifestations included dyspnoea in four animals, one of which also exhibited restlessness. One animal showed only lethargy, anorexia and vomiting. Necropsy examination revealed marked cardiomegaly, marked left ventricular hypertrophy and pallor of the myocardium and epicardium in all animals. Microscopical and immunohistochemical examination showed multifocal infiltration of the myocardium with T lymphocytes and fewer macrophages, neutrophils and plasma cells. An intense immunoreaction for FIV antigen in the cytoplasm and nucleus of lymphocytes and the cytoplasm of some macrophages was observed via immunohistochemistry (IHC). IHC did not reveal the presence of antigen from feline calicivirus, coronavirus, feline leukaemia virus, feline parvovirus, Chlamydia spp. or Toxoplasma gondii. The results demonstrate the occurrence of FIV infection in inflammatory cells in the myocardium of five cats with myocarditis and HCM. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Metabolic crosstalk between the heart and liver impacts familial hypertrophic cardiomyopathy.

    Science.gov (United States)

    Magida, Jason A; Leinwand, Leslie A

    2014-04-01

    Familial hypertrophic cardiomyopathy (HCM) is largely caused by dominant mutations in genes encoding cardiac sarcomeric proteins, and it is etiologically distinct from secondary cardiomyopathies resulting from pressure/volume overload and neurohormonal or inflammatory stimuli. Here, we demonstrate that decreased left ventricular contractile function in male, but not female, HCM mice is associated with reduced fatty acid translocase (CD36) and AMP-activated protein kinase (AMPK) activity. As a result, the levels of myocardial ATP and triglyceride (TG) content are reduced, while the levels of oleic acid and TG in circulating very low density lipoproteins (VLDLs) and liver are increased. With time, these metabolic changes culminate in enhanced glucose production in male HCM mice. Remarkably, restoration of ventricular TG and ATP deficits via AMPK agonism as well as inhibition of gluconeogenesis improves ventricular architecture and function. These data underscore the importance of the systemic effects of a primary genetic heart disease to other organs and provide insight into potentially novel therapeutic interventions for HCM.

  2. Significant regional heterogeneity of coronary flow reserve in paediatric hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Tadamura, E.; Kudoh, T.; Kubo, S.; Konishi, J.; Motooka, M.; Nohara, R.; Matsumori, A.; Sasayama, S.; Matsuda, T.; Tamaki, N.

    2000-01-01

    Previous studies have indicated that cardiac events in young patients with hypertrophic cardiomyopathy (HCM) are related to ischaemia rather than to arrhythmia. We measured coronary flow reserve in paediatric HCM and compared the values with those in adult HCM. We studied 12 patients with HCM including six paediatric ( 20 years old: mean 62 years), and six healthy young adults (mean 29 years) as controls. Every patient underwent magnetic resonance imaging (MRI) for anatomical assessment. Myocardial blood flow at rest and after dipyridamole infusion was measured with dynamic nitrogen-13 ammonia positron emission tomography (PET). Partial volume effect was corrected for using the anatomical data obtained with MRI. In adult patients with HCM, coronary flow reserve in the hypertrophied septal region was not significantly different from that in the non-hypertrophied lateral wall (1.38±0.29 vs 1.77±0.39, respectively). In the paediatric patients, coronary flow reserve in the hypertrophied septal region was significantly lower than in the non-hypertrophied lateral wall (0.84±0.33 vs 2.74±0.90, respectively, P<0.01). In addition, coronary flow reserve in adult patients was lower than in control subjects both in the septal wall (1.38±0.29 vs 2.94±0.35, respectively, P<0.0001) and in the lateral wall (1.77±0.39 vs 2.85±0.69, respectively, P<0.05). In contrast, coronary flow reserve in paediatric patients was not significantly different from that in control subjects in the lateral wall (2.74±0.90 vs 2.85±0.69, respectively), while absolute reduction of myocardial blood flow was noted after pharmacological vasodilatation in the hypertrophied septal region. In conclusion, significant regional differences of coronary flow reserve were present in the paediatric patients with HCM. These results suggest that paediatric patients with HCM intrinsically have the potential to experience significant regional ischaemia even in the absence of coronary stenosis. (orig.)

  3. Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy

    OpenAIRE

    Gruner, Christiane; Chan, Raymond H.; Crean, Andrew; Rakowski, Harry; Rowin, Ethan J.; Care, Melanie; Deva, Djeven; Williams, Lynne; Appelbaum, Evan; Gibson, C. Michael; Lesser, John R.; Haas, Tammy S.; Udelson, James E.; Manning, Warren J.; Siminovitch, Katherine

    2017-01-01

    Aims Cardiovascular magnetic resonance (CMR) has improved diagnostic and management strategies in hypertrophic cardiomyopathy (HCM) by expanding our appreciation for the diverse phenotypic expression. We sought to characterize the prevalence and clinical significance of a recently identified accessory left ventricular (LV) muscle bundle extending from the apex to the basal septum or anterior wall (i.e. apical-basal). Methods and results CMR was performed in 230 genotyped HCM patients (48 ± 15...

  4. Clinical studies on myocardial damage in hypertrophic cardiomyopathy using exercise testing with thallium-201 myocardial scintigraphy

    International Nuclear Information System (INIS)

    Igarashi, Yutaka

    1986-01-01

    Twenty-eight patients with hypertrophic cardiomyopathy (HCM) associated with normal coronary angiogram were categorized into four groups according to the distribution of disproportional hypertrophy in the left ventriculography and biventriculography. The circumferential profiles based on the scintigram were analyzed with reference to the relationship between washout rate and disproportional hypertrophy. As compared with the control group, the mean values of initial uptake in the four HCM-groups decreased in the apical segments and the lower part of anteroseptal segments which were reflected disproportional hypertrophy. The mean values increased significantly in the upper part of anteroseptal segments which projected the largest amount of myocardium three-dimensionally. The mean values of washout rate in the four HCM-groups decreased significantly in all segments, especially in the segments which were reflected in disproportional hypertrophy, and also decreased equally in the segments with the increased initial uptake. In comparison between the segmental values in each HCM-patient and those in the control group, the initial uptake and/or washout rate decreased below the mean value-2SD of the control group in the profiles of 17 out of 28 HCM-patients. The segments with decreased washout rate and normal limit of initial uptake were observed in 12 out of 17 patients. In 25 segments out of the total segments in HCM-patients, an initial uptake and/or washout rate fell down below the normal limit. The washout rate decreased, the initial uptake remained normal in 21 out of 25 segments, and 16 out of 21 segments were reflected in disproportionally hypertrophic wall. In the posterolateral segment which is the thinnest wall in the left ventricular wall of HCM, the mean value of washout rate significantly decreased in 20 patients with normal limit of initial uptake, as compared with the control group. (J.P.N.)

  5. Cardiac troponin and tropomyosin: structural and cellular perspectives to unveil the Hypertrophic Cardiomyopathy phenotype

    Directory of Open Access Journals (Sweden)

    Mayra de A. Marques

    2016-09-01

    Full Text Available Inherited myopathies affect both skeletal and cardiac muscle and are commonly associated with genetic dysfunctions, leading to the production of anomalous proteins. In cardiomyopathies, mutations frequently occur in sarcomeric genes, but the cause-effect scenario between genetic alterations and pathological processes remains elusive. Hypertrophic cardiomyopathy (HCM was the first cardiac disease associated with a genetic background. Since the discovery of the first mutation in the β-myosin heavy chain, more than 1,400 new mutations in 11 sarcomeric genes have been reported, awarding HCM the title of the disease of the sarcomere. The most common macroscopic phenotypes are left ventricle and interventricular septal thickening, but because the clinical profile of this disease is quite heterogeneous, these phenotypes are not suitable for an accurate diagnosis. The development of genomic approaches for clinical investigation allows for diagnostic progress and understanding at the molecular level. Meanwhile, the lack of accurate in vivo models to better comprehend the cellular events triggered by this pathology has become a challenge. Notwithstanding, the imbalance of Ca2+ concentrations, altered signaling pathways, induction of apoptotic factors, and heart remodeling leading to abnormal anatomy have already been reported. Of note, a misbalance of signaling biomolecules, such as kinases and tumor suppressors (e.g., Akt and p53, seems to participate in apoptotic and fibrotic events. In HCM, structural and cellular information about defective sarcomeric proteins and their altered interactome is emerging but still represents a bottleneck for developing new concepts in basic research and for future therapeutic interventions. This review focuses on the structural and cellular alterations triggered by HCM-causing mutations in troponin and tropomyosin proteins and how structural biology can aid in the discovery of new platforms for therapeutics. We

  6. The emerging role of cardiovascular MRI for risk stratification in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Hoey, E.T.D.; Teoh, J.K.; Das, I.; Ganeshan, A.; Simpson, H.; Watkin, R.W.

    2014-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common inheritable cardiovascular disorder. Although many HCM patients remain asymptomatic, sudden death (SD) can occur as the initial manifestation of the disease. It has been hypothesized that myocardial architectural disorganization and scarring represent an unstable electrophysiological substrate that creates susceptibility to malignant ventricular arrhythmias. Cardiovascular magnetic resonance imaging (CMR) is widely used for the diagnosis of HCM, especially in patients with an incomplete or inconclusive echocardiography study. CMR can provide precise non-invasive assessment of biventricular function, wall thickness, and assessment of myocardial fibrosis, using inversion recovery gadolinium-enhanced sequences. CMR is also one of the most promising avenues of research in HCM, and in recent years, has provided many new insights and identified a number of potential adverse prognostic indicators for SD. Future work is still needed to integrate CMR findings into traditional risk assessment algorithms. This paper reviews the evolving role of CMR for risk stratification in HCM including assessment of myocardial hypertrophy, fibrosis and ischaemia

  7. Echocardiography as a Screening Test for Myocardial Scarring in Children with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Gregory Compton

    2016-01-01

    Full Text Available Introduction. Hypertrophic cardiomyopathy (HCM is burdened with morbidity and mortality including tachyarrhythmias and sudden cardiac death. These complications are attributed in part to the formation of proarrhythmic scars in the myocardium. The presence of extensive LGE is a risk factor for adverse outcomes in HCM. Late gadolinium enhancement (LGE cardiac magnetic resonance imaging (cMRI is the standard for the noninvasive evaluation of myocardial scars. However, echocardiography represents an attractive screening tool for myocardial scarring. The aim of this study was to compare the suitability of echocardiography to detect myocardial scars to the standard of cMRI-LGE. Methods. The cMRI studies and echocardiograms from 56 consecutive children with HCM were independently evaluated for the presence of cMRI-LGE and echocardiographic evidence of scarring by expert readers. Results. Echocardiography had a high sensitivity (93% and negative predictive value (94% in comparison to LGE. The false positive rate was high, leading to a low specificity (37% and a low positive predictive value (35%. Conclusions. Given the poor specificity and positive predictive value, echocardiography is not a suitable screening test for the presence of myocardial scarring in children with HCM. However, children without echocardiographic evidence of myocardial scarring may not need to undergo cardiac magnetic resonance imaging to “rule in” LGE.

  8. T1 mapping for detection of left ventricular myocardial fibrosis in hypertrophic cardiomyopathy: A preliminary study

    International Nuclear Information System (INIS)

    Lu, Minjie; Zhao, Shihua; Yin, Gang; Jiang, Shiliang; Zhao, Tao; Chen, Xiuyu; Tian, Liangxin; Zhang, Yan; Wei, Yunqing; Liu, Qiong; He, Zuoxiang; Xue, Hui; An, Jing; Shah, Saurabh

    2013-01-01

    Purpose: To investigate the diagnostic value of T1 mapping imaging of evaluating fibrosis in patients with hypertrophic cardiomyopathy (HCM). Materials and methods: 21 subjects with HCM and 18 healthy volunteers underwent conventional late gadolinium enhancement (LGE) imaging and T1 mapping imaging. The region of myocardium in HCM is divided into remote area of LGE, peri-LGE, LGE (halo-like LGE and typical patchy LGE). These regions combined with normal volunteers’ myocardium were calculated by the reduced percent of T1 value (RPTV). Results: The RPTV in healthy volunteers was no significant comparing with that in the remote area of LGE in HCM subjects (3.98 ± 3.19 vs. 3.34 ± 2.75, P > 0.05). There were significant statistical differences in pairwise among the remote area of LGE, peri-LGE, halo-like LGE and typical patchy LGE in the RPTV (P < 0.0001). ROC curves indicated that the T1 mapping imaging has a greater area under the curve comparing with that of traditional LGE imaging (0.975 ± 0.07 vs. 0.753 ± 0.26, P < 0.0001). Conclusions: HCM has a high prevalence of fibrosis and with varying severity. T1 mapping imaging can be a useful method to evaluate the severity of the fibrosis in HCM

  9. Correlation between late gadolinium enhancement and diastolic function in hypertrophic cardiomyopathy assessed by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Motoyasu, Munenobu; Kurita, Tairo; Onishi, Katsuya

    2008-01-01

    Diastolic dysfunction is common in patients with overt hypertrophic cardiomyopathy (HCM). Steady-state cine magnetic resonance imaging (MRI) enables measurement of the diastolic function of the left ventricle (LV), and late gadolinium enhanced MRI can delineate the presence and extent of fibrosis in HCM. The purpose of this study was to determine the relationship between the extent of myocardial fibrosis demonstrated by late gadolinium-enhanced MRI and diastolic dysfunction. Seventeen patients (13 men, mean age 57.7±9.8 years) with HCM were studied. The severity index of late gadolinium enhancement was determined by scoring the extent of enhanced tissue in 30 myocardial segments. The peak filling rate (PFR), LV ejection fraction and LV mass were determined by cine MRI. Contrast-enhanced MRI demonstrated late gadolinium enhancement in 97 of 510 segments (19%) and 13 of the 17 patients (77%). The severity index of late gadolinium enhancement demonstrated a significant negative correlation with PFR (r=-0.86, p<0.01) and with the LV ejection fraction (r=-0.59, p<0.05). No significant correlation was observed between the severity index of late gadolinium enhancement and LV mass (r=0.23, p=0.30). The extent of myocardial fibrosis revealed by late gadolinium-enhanced MRI has a strong relationship to diastolic dysfunction in patients with HCM. (author)

  10. Bilateral brachial plexus blocks in a patient of hypertrophic obstructive cardiomyopathy with hypertensive crisis

    Directory of Open Access Journals (Sweden)

    Rohini V Bhat Pai

    2013-01-01

    Full Text Available Hypertrophic obstructive cardiomyopathy (HOCM is a challenge to anesthesiologists due to the complex pathophysiology involved and various perioperative complications associated with it. We present a 50-year-old man, a known case of HOCM, who successfully underwent emergency haemostasis, and debridement of the traumatically amputated right upper limb and the contused lacerated wound on the left forearm under bilateral brachial plexus blocks. His co-morbidities included hypertension (in hypertensive crisis and diabetes mellitus. He was full stomach and also had an anticipated difficult airway. The management included invasive pressure monitoring and labetalol infusion for emergent control of blood pressure. The regional anaesthesia technique required careful consideration to the dosage of local anaesthetics and staggered performance of brachial plexus blocks on each of the upper limbs to avoid local anaesthetic toxicity. Even though bilateral brachial plexus blocks are rarely indicated, it seemed to be the most appropriate anaesthetic technique in our patient. With careful consideration of the local anaesthetic toxicity and meticulous technique, bilateral brachial plexus blocks can be successfully performed in those patients where general anaesthesia is deemed to be associated with higher risk.

  11. Single-Coil Defibrillator Leads Yield Satisfactory Defibrillation Safety Margin in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Okamura, Hideo; Friedman, Paul A; Inoue, Yuko; Noda, Takashi; Aiba, Takeshi; Yasuda, Satoshi; Ogawa, Hisao; Kamakura, Shiro; Kusano, Kengo; Espinosa, Raul E

    2016-09-23

    Single-coil defibrillator leads have gained favor because of their potential ease of extraction. However, a high defibrillation threshold remains a concern in patients with hypertrophic cardiomyopathy (HCM), and in many cases, dual-coil leads have been used for this patient group. There is little data on using single-coil leads for HCM patients. We evaluated 20 patients with HCM who received an implantable cardioverter-defibrillator (ICD) on the left side in combination with a dual-coil lead. Two sets of defibrillation tests were performed in each patient, one with the superior vena cava (SVC) coil "on" and one with the SVC coil "off". ICDs were programmed to deliver 25 joules (J) for the first attempt followed by maximum energy (35 J or 40 J). Shock impedance and shock pulse width at 25 J in each setting as well as the results of the shock were analyzed. All 25-J shocks in both settings successfully terminated ventricular fibrillation. However, shock impedance and pulse width increased substantially with the SVC coil programmed "off" compared with "on" (66.4±6.1 ohm and 14.0±1.3 ms "off" vs. 41.9±5.0 ohm and 9.3±0.8 ms "on", Psatisfactory safety margin for 35-J devices. Single-coil leads appear appropriate for left-sided implantation in this patient group. (Circ J 2016; 80: 2199-2203).

  12. Coexistent coronary artery disease or myocardial bridging in patients with hypertrophic cardiomyopathy using coronary CT angiography

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jae Hwan; Chun, Eun Ju; Kim, Yeo Koon; Yoo, Jin Young; Choi, Sang Il; Choi, Dong Ju [Seoul National University Bundang Hospital, Seongnam (Korea, Republic of)

    2015-07-15

    To evaluate the prevalence of coexistent coronary artery disease (CAD) or myocardial bridging (MB) in patients with hypertrophic cardiomyopathy (HCM) using coronary CT angiography (CCTA) and assess the role of CCTA. The prevalence of obstructive CAD (> 50% luminal reduction) and MB (partial and full encasement) were assessed in 150 patients with HCM diagnosed by clinical findings, electrocardiography, and echocardiography of 19588 consecutive patients who underwent CCTA for suspected CAD. The overall feasibility of coronary artery visualization was 98.9% with CCTA. In patients with HCM, the prevalence of obstructive CAD and MB (14.7% partial and 28.0% full encasement) were 23.3% and 42.7%, respectively. Age, hypertension, family history of premature CAD, Framingham risk score and severe chest pain were associated with CAD, whereas male gender and septal type were associated with MB (all p < 0.05). In comparison to invasive coronary angiography (n = 37), the diagnostic accuracy of CCTA for the detection of CAD and full encasement MB was 89.2% and 86.5%, respectively. One-quarter of patients with HCM had coexistent obstructive CAD or full encasement MB. CCTA can be a feasible and accurate noninvasive imaging modality for the detection of CAD and MB in patients with HCM.

  13. High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

    Directory of Open Access Journals (Sweden)

    Santos Susana

    2012-03-01

    Full Text Available Abstract Background Hypertrophic Cardiomyopathy (HCM is a complex myocardial disorder with a recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits a gene-based diagnosis that should be considered of most importance for basic research and clinical medicine. Methodology In this report, we evaluated High Resolution Melting (HRM robustness, regarding HCM genetic testing, by means of analyzing 28 HCM-associated genes, including the most frequent 4 HCM-associated sarcomere genes, as well as 24 genes with lower reported HCM-phenotype association. We analyzed 80 Portuguese individuals with clinical phenotype of HCM allowing simultaneously a better characterization of this disease in the Portuguese population. Results HRM technology allowed us to identify 60 mutated alleles in 72 HCM patients: 49 missense mutations, 3 nonsense mutations, one 1-bp deletion, one 5-bp deletion, one in frame 3-bp deletion, one insertion/deletion, 3 splice mutations, one 5'UTR mutation in MYH7, MYBPC3, TNNT2, TNNI3, CSRP3, MYH6 and MYL2 genes. Significantly 22 are novel gene mutations. Conclusions HRM was proven to be a technique with high sensitivity and a low false positive ratio allowing a rapid, innovative and low cost genotyping of HCM. In a short return, HRM as a gene scanning technique could be a cost-effective gene-based diagnosis for an accurate HCM genetic diagnosis and hopefully providing new insights into genotype/phenotype correlations.

  14. The Genetic and Molecular Bases for Hypertrophic Cardiomyopathy: The Role for Calcium Sensitization.

    Science.gov (United States)

    Ren, Xianfeng; Hensley, Nadia; Brady, Mary Beth; Gao, Wei Dong

    2018-02-01

    Hypertrophic cardiomyopathy (HCM) affects millions of people around the world as one of the most common genetic heart disorders and leads to cardiac ischemia, heart failure, dysfunction of other organ systems, and increased risk for sudden unexpected cardiac deaths. HCM can be caused by single-point mutations, insertion or deletion mutations, or truncation of cardiac myofilament proteins. The molecular mechanism that leads to disease progression and presentation is still poorly understood, despite decades of investigations. However, recent research has made dramatic advances in the understanding of HCM disease development. Studies have shown that increased calcium sensitivity is a universal feature in HCM. At the molecular level, increased crossbridge force (or power) generation resulting in hypercontractility is the prominent feature. Thus, calcium sensitization/hypercontractility is emerging as the primary stimulus for HCM disease development and phenotypic expression. Cross-bridge inhibition has been shown to halt HCM presentation, and myofilament desensitization appears to reduce lethal arrhythmias in animal models of HCM. These advances in basic research will continue to deepen the knowledge of HCM pathogenesis and are beginning to revolutionize the management of HCM. Copyright © 2018 Elsevier Inc. All rights reserved.

  15. Hypertrophic cardiomyopathy with midventricular obstruction and apical aneurysm formation in a single family: case report

    Directory of Open Access Journals (Sweden)

    Paraskevaidis Stylianos

    2009-06-01

    Full Text Available Abstract Background Hypertrophic cardiomyopathy (HCM is an extremely heterogeneous disease. An under recognized and very often missed subgroup within this broad spectrum concerns patients with left ventricular (LV apical aneurysms in the absence of coronary artery disease. Case presentation We describe a case of HCM with midventricular obstruction and apical aneurysm formation in 3 patients coming from a single family. This HCM pattern was detected by 2D-echocardiography and confirmed by cardiac magnetic resonance imaging. A cardioverter defibrillator was implanted in one of the patients because of non-sustained ventricular tachycardia detected in 24-h Holter monitoring and an abrupt drop in systolic blood pressure during maximal exercise test. The defibrillator activated 8 months after implantation by suppression of a ventricular tachycardia providing anti-tachycardia pacing. The patient died due to refractory heart failure 2 years after initial evaluation. The rest of the patients are stable after a 2.5-y follow-up period. Conclusion The detection of apical aneurysm by echocardiography in HCM patients may be complicated. Ventricular tachycardia arising from the scarred aneurysm wall may often occur predisposing to sudden death.

  16. Effect of Left Ventricular Outflow Tract Obstruction on Left Atrial Mechanics in Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Lynne K. Williams

    2015-01-01

    Full Text Available Left atrial (LA volumes are known to be increased in hypertrophic cardiomyopathy (HCM and are a predictor of adverse outcome. In addition, LA function is impaired and is presumed to be due to left ventricular (LV diastolic dysfunction as a result of hypertrophy and myocardial fibrosis. In the current study, we assess the incremental effect of outflow tract obstruction (and concomitant mitral regurgitation on LA function as assessed by LA strain. Patients with HCM (50 obstructive, 50 nonobstructive were compared to 50 normal controls. A subset of obstructive patients who had undergone septal myectomy was also studied. Utilising feature-tracking software applied to cardiovascular magnetic resonance images, LA volumes and functional parameters were calculated. LA volumes were significantly elevated and LA ejection fraction and strain were significantly reduced in patients with HCM compared with controls and were significantly more affected in patients with obstruction. LA volumes and function were significantly improved after septal myectomy. LVOT obstruction and mitral regurgitation appear to further impair LA mechanics. Septal myectomy results in a significant reduction in LA volumes, paralleled by an improvement in function.

  17. Regional left ventricular contractile dynamics in hypertrophic cardiomyopathy estimated by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Sato, Tetsuya

    1994-01-01

    To assess the regional myocardial function in hypertrophic cardiomyopathy (HCM), I examined the systolic wall thickening (%WT) and percent change of segmental wall area (%AR) using cine magnetic resonance imaging in 23 normal volunteers (G1) and 40 patients (G2) with HCM. Short axis images of the left ventricle were recorded at the base and the apex, and were divided into 5 segments, and %WT and %AR were measured for each segment. There were no significant differences in %WT and %AR among the segments in G1, while %WT of the posterior septum, posterior and lateral segments in the apex were higher than the corresponding segments of the base. Wall segments of G2 were classified into 3 groups according to the end-diastolic wall thickness: G2a, ≤12 mm; G2b, 12 15. At each slice level, %WT and %AR were highest in G2a and lowest in G2c. These findings suggest that myocardial shortening in normal subjects is higher in the apex than in the base, and, in HCM, regional myocardial function decreases in association with an advance of hypertrophy, with a possible compensatory increased wall function of normal segments. (author)

  18. Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Rafael, Julianny Freitas; Cruz, Fernando Eugênio Dos Santos; Carvalho, Antônio Carlos Campos de; Gottlieb, Ilan; Cazelli, José Guilherme; Siciliano, Ana Paula; Dias, Glauber Monteiro

    2017-04-01

    Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes. Studies have demonstrated a poorer prognosis when associated with specific mutations. The association between HCM genotype and phenotype has been the subject of several studies since the discovery of the genetic nature of the disease. This study shows the effect of a MYBPC3 compound variant on the phenotypic HCM expression. A family in which a young man had a clinical diagnosis of HCM underwent clinical and genetic investigations. The coding regions of the MYH7, MYBPC3 and TNNT2 genes were sequenced and analyzed. The proband present a malignant manifestation of the disease, and is the only one to express HCM in his family. The genetic analysis through direct sequencing of the three main genes related to this disease identified a compound heterozygous variant (p.E542Q and p.D610H) in MYBPC3. A family analysis indicated that the p.E542Q and p.D610H alleles have paternal and maternal origin, respectively. No family member carrier of one of the variant alleles manifested clinical signs of HCM. We suggest that the MYBPC3-biallelic heterozygous expression of p.E542Q and p.D610H may cause the severe disease phenotype seen in the proband. Resumo A cardiomiopatia hipertrófica (CMH) é uma doença autossômica dominante causada por mutações em genes que codificam as proteínas dos sarcômeros. É a principal causa de morte súbita cardíaca em atletas jovens de alto nível. Estudos têm demonstrado um pior prognóstico associado a mutações específicas. A associação entre genótipo e fenótipo em CMH tem sido objeto de diversos estudos desde a descoberta da origem genética dessa doença. Este trabalho apresenta o efeito de uma mutação composta em MYBPC3 na expressão fenotípica da CMH. Uma família na qual um jovem tem o diagnóstico clínico de CMH foi

  19. Scoring of late gadolinium enhancement in cardiac magnetic resonance imaging can predict cardiac events in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Nojiri, Ayumi; Hongo, Kenichi; Kawai, Makoto; Komukai, Kimiaki; Sakuma, Toru; Taniguchi, Ikuo; Yoshimura, Michihiro

    2011-01-01

    Late gadolinium enhancement (LGE) of cardiac magnetic resonance imaging (MRI) represents myocardial fibrosis and may be related to the clinical outcome of various heart diseases. This study evaluated the relationship between LGE and cardiac events in hypertrophic cardiomyopathy (HCM) using a new scoring method. This study retrospectively followed 46 HCM patients without heart failure symptoms for 3.8±1.8 years. Gadolinium-enhanced cardiac MRI was performed in all patients. Cardiac events including newly developed heart failure or ventricular tachyarrhythmia were evaluated during the follow-up period. We evaluated the predictive factors to identify the patients with cardiac events. None of the risk factors reported to be related to poor outcome or the existence of LGE alone could predict cardiac events, which might be due to the small number of subjects investigated in this study. A new scoring method for LGE-positive areas (LGE score) was applied and higher LGE score can predict cardiac events in this study population. The proposed LGE score for cardiac MRI is considered to be a potentially valid method for assessing cardiac events in HCM patients. (author)

  20. Correlation between myocardial fibrosis and the occurrence of atrial fibrillation in hypertrophic cardiomyopathy: A cardiac magnetic resonance imaging study

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    Pujadas, S., E-mail: sandrapujadas@gmail.co [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Vidal-Perez, R. [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Hidalgo, A. [Radiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Leta, R.; Carreras, F.; Barros, A. [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Bayes-Genis, A. [Cardiomyopathy and Cardiac Transplant Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Subirana, M.T. [Congenital Heart Disease Unit, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain); Pons-Llado, Guillem [Cardiac Imaging Unit, Cardiology Department, Hospital de la Santa Creu i Sant Pau, Av. Pare M Claret 167, 08025 Barcelona (Spain)

    2010-08-15

    Cardiac magnetic resonance imaging (CMR) in hypertrophic cardiomyopathy (HCM) often shows delayed contrast enhancement (DE) representing regions of focal myocardial fibrosis. Atrial fibrillation (AF) is a commonly reported complication of HCM. We determined the relationship between the presence of left ventricular myocardial fibrosis (LVMF) detected by DE-CMR and the occurrence AF in a series of patients with HCM. 67 patients with HCM (47 males; mean age 50.1 {+-} 18.5 years) were studied by CMR measuring mass of LVMF, left ventricular mass, volume and function, and left atrial (LA) area. AF was present in 17 (25%) patients. LVMF was observed in 57% of patients. AF was significantly more frequent in patients who also showed LVMF, compared with the group without LVMF (42.1% vs. 3.4%, respectively; p < 0.0001). LA size was larger in patients showing DE (LA area: 37.4 {+-} 11.1 vs. 25.9 {+-} 6.8 cm{sup 2}; respectively, p = 0.0001). AF in HCM is related with myocardial fibrosis detected by DE-CMR and dilatation of the LA. This fact adds to the proven adverse prognostic value of myocardial fibrosis in HCM, thus, reinforcing the usefulness of this technique in the assessment of these patients.

  1. Correlation between myocardial fibrosis and the occurrence of atrial fibrillation in hypertrophic cardiomyopathy: A cardiac magnetic resonance imaging study

    International Nuclear Information System (INIS)

    Pujadas, S.; Vidal-Perez, R.; Hidalgo, A.; Leta, R.; Carreras, F.; Barros, A.; Bayes-Genis, A.; Subirana, M.T.; Pons-Llado, Guillem

    2010-01-01

    Cardiac magnetic resonance imaging (CMR) in hypertrophic cardiomyopathy (HCM) often shows delayed contrast enhancement (DE) representing regions of focal myocardial fibrosis. Atrial fibrillation (AF) is a commonly reported complication of HCM. We determined the relationship between the presence of left ventricular myocardial fibrosis (LVMF) detected by DE-CMR and the occurrence AF in a series of patients with HCM. 67 patients with HCM (47 males; mean age 50.1 ± 18.5 years) were studied by CMR measuring mass of LVMF, left ventricular mass, volume and function, and left atrial (LA) area. AF was present in 17 (25%) patients. LVMF was observed in 57% of patients. AF was significantly more frequent in patients who also showed LVMF, compared with the group without LVMF (42.1% vs. 3.4%, respectively; p 2 ; respectively, p = 0.0001). AF in HCM is related with myocardial fibrosis detected by DE-CMR and dilatation of the LA. This fact adds to the proven adverse prognostic value of myocardial fibrosis in HCM, thus, reinforcing the usefulness of this technique in the assessment of these patients.

  2. Distinguishing hypertrophic cardiomyopathy from athlete's heart physiological remodelling: clinical significance, diagnostic strategies and implications for preparticipation screening.

    Science.gov (United States)

    Maron, B J

    2009-09-01

    Sudden cardiac death in young competitive athletes is an important public health problem, although a relatively low-event-rate phenomenon. The single most common cardiovascular cause of these unexpected catastrophes is hypertrophic cardiomyopathy (HCM), accounting for about one-third of cases. Since the phenotypic expression of HCM is variable, and not uncommonly includes patients with mild and localised left ventricular hypertrophy, the differential diagnosis with physiological remodelling of athlete's heart not uncommonly arises. This review discusses those non-invasive strategies that are useful in distinguishing the benign consequences of systematic athletic training from pathological left ventricular hypertrophy with the potential for sudden cardiac death. Preparticipation screening in healthy general athlete populations may raise the suspicion of HCM, and ultimately lead to definitive diagnosis. However, recently controversy has arisen regarding the most effective and practical strategy for the screening of athletes. European investigators have promoted routine 12-lead ECGs as part of a national mandatory programme distinct from the customary practice in the US which is limited to history and physical examinations. Consensus criteria and recommendations for eligibility and disqualification of athletes with HCM (and other cardiovascular abnormalities) have proved useful to the practising community.

  3. Clinical and Echocardiographic Evaluation of Regional Systolic Function Detected by Tissue Doppler Imaging in Hypertrophic Cardiomyopathy

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    A Sadeghpour

    2009-09-01

    Full Text Available Background: Hypertrophic cardiomyopathy (HCM is the most common type of the genetic cardiovasculardiseases. Regarding to tremendous heterogeneity in the phenotypic expression of HCM, which is generally unrelatedto genotype, we aimed to study, clinical and echocardiographic parameters such as Tissue Doppler Imaging(TDI in various subtypes of HCM patients and evaluate the influence of race and gender in Iranian patients.Methods: Patients with HCM underwent a complete clinical and echocardiographic study including TDI toassess regional systolic contraction( in the 12 segments and early diastolic annular velocity (Em from theseptal mitral annulus.Results: The study comprised 41 patients (20 women, mean age = 41 ± 15 years with mean LVEF 55%±4.8%and mean maximal septal thickness 2.07cm. Considering LVOT gradient>30mmHg, hypertrophic obstructivecardiomyopathy (HOCM was found in 18 (45%. Asymmetric septal hypertrophy (ASH existed in 27 patients(67%, systolic anterior motion of anterior mitral leaflet (SAM in 25 persons (64%. Nineteen patients (46.3%were included in NYHA function class (FC II and 6 (14.7% in FC III or higher. We found syncope in 10(24.4%, chest pain in 4 (9.8%, atrial fibrilation in 14.6 % and ventricular arrhythmias in (17.1% of patients.History of ICD was seen in 7 (17.1% and PPM in 9 cases. Mean E’ velocity was 5.44± 1.65 cm/sec and S velocity5.70± 1.49 cm/sec with significant lower S velocity and E’ in syncope patients. Overall, HOCM patients hadgrade II diastolic dysfunction with E/É >15(17.54±7.46. Majority (25 of cases (61% were categorized in typeIII of HCM. RV involvement was observed in 11 patients (28.2%.No significant differences existed betweenprevalence of syncope and dysrhythmia among HCM and HOCM patients.Conclusion: In our study, we found lower detection of latent HOCM, compared to other studies, suggestive ofinadequate use of appropriate provocative maneuvers such as exercise stress echocardiography and amyl

  4. Fibroma cardíaco mimetizando cardiomiopatia hipertrófica Cardiac fibroma mimicking hypertrophic cardiomyopathy

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    Luís Alberto Dallan

    1989-12-01

    Full Text Available É relatado o caso de paciente com queixa de dor precordial, dispnéia e arritmia desde a adolescência, tratada clinicamente por mais de 10 anos. Nesse período, foi submetida a inúmeros exames ângio e ecocardiográficos, com suspeita inicial de endomiocardiofibrose e, posteriormente, de cardiomiopatia hipertrófica de ventrículo esquerdo. Como houve piora progressiva da sintomatologia e ausência de resposta à medicação, foi encaminhada ao nosso Serviço, onde se diagnosticou fibroma de ventrículo esquerdo. Foi submetida, com sucesso, à ressecção cirúrgica do tumor, sendo realizada reconstrução geométrica do ventrículo esquerdo. Apresenta boa evolução, decorridos dois anos, com remissão completa dos sintomas. Destacamos a dificuldade no diagnóstico diferencial desses tumores benignos e de crescimento lento, com as cardiomiopatias hipertróficas do ventrículo esquerdo.A 33 year-old woman was seen, for the first time, ten years ago, for evaluation of a recurrent chest pain, dyspnea and arrhythmia. She was submitted to echocardiographic studies and a cardiac catheterization. The diagnoses was endomyocardial fibrosis at first, and hypertrophic cardiomyopathy after. Despite treatment with propranolol and quinidine, the episodes of dyspnea and tachyarrhythmias became more frequent and severe, and the patient was guided to our Service. Cardiac re-catheterization, echocardiographic and computed tomography studies identified in traumural cardiac fibroma and the patient was referred for surgical treatment. The cardiac fibroma was successfully resected on extracorporeal bypass and with cardioplegic arrest of the heart. Repair of the heart was accomplished with a patch placed to close the left ventricular cavity. The postoperative course was uncomplicated, and she remains assymptomatic two years later. We have emphazied tha this tumor often produces clinically obscure disease, simulating particularly the left ventricle hypertrophic

  5. Intraoperative Diagnosis of Anderson-Fabry Disease in Patients With Obstructive Hypertrophic Cardiomyopathy Undergoing Surgical Myectomy.

    Science.gov (United States)

    Cecchi, Franco; Iascone, Maria; Maurizi, Niccolò; Pezzoli, Laura; Binaco, Irene; Biagini, Elena; Fibbi, Maria Laura; Olivotto, Iacopo; Pieruzzi, Federico; Fruntelata, Ana; Dorobantu, Lucian; Rapezzi, Claudio; Ferrazzi, Paolo

    2017-10-01

    Diagnostic screening for Anderson-Fabry cardiomyopathy (AFC) is performed in the presence of specific clinical red flags in patients with hypertrophic cardiomyopathy (HCM) older than 25 years. However, left ventricular outflow tract obstruction (LVOTO) has been traditionally considered an exclusion criteria for AFC. To examine a series of patients diagnosed with HCM and severe basal LVOTO undergoing myectomy in whom the diagnosis of AFC was suspected by the cardiac surgeon intraoperatively and confirmed by histological and genetic examinations. This retrospective analysis of patients undergoing surgical septal reduction strategies was conducted in 3 European tertiary referral centers for HCM from July 2013 to December 2016. Patients with a clinical diagnosis of obstructive HCM referred for surgical management of LVOTO were observed for at least 18 months after the procedure (mean [SD] follow-up, 33 [14] months). Etiology of patients with HCM who underwent surgical myectomy. From 2013, 235 consecutive patients with a clinical diagnosis of HCM underwent septal myectomy. The cardiac surgeon suspected a storage disease in 3 patients (1.3%) while inspecting their heart samples extracted from myectomy. The mean (SD) age at diagnosis for these 3 patients was 42 (4) years; all were male. None of the 3 patients presented with extracardiac features suggestive of AFC. All patients showed asymmetrical left ventricular hypertrophy, with maximal left ventricular thickness in the basal septum (19-31 mm), severe basal LVOTO (70-120 mm Hg), and left atrial dilatation (44-57 mm). Only 1 patient presented with late gadolinium enhancement on cardiovascular magnetic resonance at the right ventricle insertion site. The mean (SD) age at surgical procedure was 63 (5) years. On tactile sensation, the surgeon felt a spongy consistency of the surgical samples, different from the usual stony-elastic consistency typical of classic HCM, and this prompted histological examinations. Histology

  6. Comparison of Maximal Wall Thickness in Hypertrophic Cardiomyopathy Differs Between Magnetic Resonance Imaging and Transthoracic Echocardiography.

    Science.gov (United States)

    Bois, John P; Geske, Jeffrey B; Foley, Thomas A; Ommen, Steve R; Pellikka, Patricia A

    2017-02-15

    Left ventricular (LV) wall thickness is a prognostic marker in hypertrophic cardiomyopathy (HC). LV wall thickness ≥30 mm (massive hypertrophy) is independently associated with sudden cardiac death. Presence of massive hypertrophy is used to guide decision making for cardiac defibrillator implantation. We sought to determine whether measurements of maximal LV wall thickness differ between cardiac magnetic resonance imaging (MRI) and transthoracic echocardiography (TTE). Consecutive patients were studied who had HC without previous septal ablation or myectomy and underwent both cardiac MRI and TTE at a single tertiary referral center. Reported maximal LV wall thickness was compared between the imaging techniques. Patients with ≥1 technique reporting massive hypertrophy received subset analysis. In total, 618 patients were evaluated from January 1, 2003, to December 21, 2012 (mean [SD] age, 53 [15] years; 381 men [62%]). In 75 patients (12%), reported maximal LV wall thickness was identical between MRI and TTE. Median difference in reported maximal LV wall thickness between the techniques was 3 mm (maximum difference, 17 mm). Of the 63 patients with ≥1 technique measuring maximal LV wall thickness ≥30 mm, 44 patients (70%) had discrepant classification regarding massive hypertrophy. MRI identified 52 patients (83%) with massive hypertrophy; TTE, 30 patients (48%). Although guidelines recommend MRI or TTE imaging to assess cardiac anatomy in HC, this study shows discrepancy between the techniques for maximal reported LV wall thickness assessment. In conclusion, because this measure clinically affects prognosis and therapeutic decision making, efforts to resolve these discrepancies are critical. Copyright © 2016 Elsevier Inc. All rights reserved.

  7. Platelet Function Analyzer 100 and Brain Natriuretic Peptide as Biomarkers in Obstructive Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Blackshear, Joseph L; Safford, Robert E; Thomas, Colleen S; Bos, J Martijn; Ackerman, Michael J; Geske, Jeffrey B; Ommen, Steve R; Shapiro, Brian P; Johns, Gretchen S

    2018-03-15

    To test dual blood biomarkers compared with electrocardiogram (ECG) for hypertrophic cardiomyopathy (HC) screening, we performed 3 analyses and cut-point assessments. First, we measured platelet function analyzer (PFA)-100 (n = 99) and normalized B-type natriuretic peptide (BNP) or NT-proBNP (BNP/upper limit of normal [ULN], n = 92) in 64 patients with HC and 29 normal controls (NCs). Second, from the regression equation between PFA and gradient (r = 0.77), we derived estimated PFA in a population of 189 patients with functional class I HC in whom measured BNP/ULN and ECG were available, and calculated single and dual biomarker sensitivity and specificity compared with ECG. Finally, we compared BNP/ULN in class I patients based on mutation and familial history status. In 42 patients with obstructive HC versus NCs, there was a slight overlap of PFA and BNP/ULN, but for the product of PFA × BNP/ULN, there was near-complete separation of values. Among patients with class I obstructive HC, estimated PFA × BNP/ULN had a sensitivity of 93% and a specificity of 100%; in latent and nonobstructive HC, sensitivity dropped to 61% and 72%; for ECG in obstructive, latent, and nonobstructive HC, sensitivity was 71%, 34%, and 67%. Functional class I patients with positive (n = 28) and negative (n = 36) sarcomere mutations and a positive (n = 71) or a negative (n = 109) family history had significant elevations of BNP/ULN versus NC, with no between-group differences. In conclusion, PFA and BNP were highly associated with obstructive HC and could potentially be used for screening; BNP was not uniquely elevated in patients with familial versus nonfamilial or mutation-positive versus mutation-negative HC. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Does septal thickness influence outcome of myectomy for hypertrophic obstructive cardiomyopathy?

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    Nguyen, Anita; Schaff, Hartzell V; Nishimura, Rick A; Dearani, Joseph A; Geske, Jeffrey B; Lahr, Brian D; Ommen, Steve R

    2018-03-01

    Patients with hypertrophic obstructive cardiomyopathy and basal septal thickness 21 mm, n = 505), were performed with the Kruskal-Wallis and the Pearson χ2 tests and semiparametric analysis of covariance. Median group ages were 57, 57 and 54 years (P = 0.007); men comprised 50.4%, 56.7% and 62.0%, respectively (P = 0.003). Intrinsic MV disease was present in 5.9%, 5.2% and 4.6%, respectively (P = 0.80). All patients underwent transaortic septal myectomy. Additional mitral procedures were performed in 7.6%, 7.8% and 8.1%, respectively (P = 0.90). Reasons for MV surgery included intrinsic MV disease (66.7%), residual mitral regurgitation (30.8%) and residual gradient (2.6%). All groups had postoperative gradient relief (median reduction: 51, 54 and 50 mmHg; P = 0.11). Ventricular septal defect occurred in 4 patients (0.3%), and risk did not differ by group (P = 0.24). Adequate relief of left ventricular outflow tract obstruction can be achieved via transaortic septal myectomy without concomitant MV procedures when septal thickness is < 18 mm, and the risk of ventricular septal defect is minimal. Concomitant MV repair/replacement should be reserved for patients with intrinsic MV disease or inadequate relief of mitral regurgitation/left ventricular outflow tract obstruction following adequate extended septal myectomy. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  9. CASE OF DIAGNOSIS OF APICAL FORM OF HYPERTROPHIC CARDIOMYOPATHY WITH A PATIENT WITH PROGRESSIVE ANGINA CLINIC

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    N. S. Krylova

    2015-01-01

    Full Text Available Objective of work: to describe the apical form of hypertrophic cardiomyopathy (AFHC developing under the "mask" of the ischemic heart disease not diagnosed for a long period.Materials and methods. Patient B., 73 y.o., female, was brought to the cardiology department with complains of severe pressing pain behind the breastbone caused with no apparent reason and lasting for over 4 hours. The following examination of the patient was performed: electrocardiography (ECG, echocardiography (EchoCG, Holter ECG monitoring, coronary angiography (CAG, ventriculography.Results. The final diagnosis for the patient was set on the basis of the following readings: ECG data (basic rhythm – atrial fibrillation, left ventricle (LV hypertrophy, negative T-waves in leads V1–6, ST segment depression up to 1–2 mm in leads V4–6, EchoCG (hypertrophy of apical segments of the LV with decreasing of its cavity, moderate dilatation of the left atrium, intraventricular obstruction in the apical third of the LV with the maximum pressure gradient of up to 48 mm Hg., CAG (stenotic lesions of coronary arteries were found, ventriculography (LV volume is not increased, no violations of local contractility, narrowing of the LV cavity in the lower third is observed with thinning in the apex, which indicatesexpressed apical hypertrophy of the LV myocard. AFHC, apical form with moderate obstruction in the lower third of the left ventricle. Stress angina syndrome. CAG and ventriculography were main diagnostic methods that allowed setting the final diagnosis.Conclusion. The clinical case sets forth the peculiarities of diagnostics, therapy, and post-therapy management of patients with this form of AFHC.

  10. Quantification and significance of diffuse myocardial fibrosis and diastolic dysfunction in childhood hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hussain, Tarique; Dragulescu, Andreea; Benson, Lee; Yoo, Shi-Joon; Meng, Howard; Windram, Jonathan; Wong, Derek; Greiser, Andreas; Friedberg, Mark; Mertens, Luc; Seed, Michael; Redington, Andrew; Grosse-Wortmann, Lars

    2015-06-01

    The purpose of this study was to evaluate the presence of diffuse myocardial fibrosis in children and adolescents with hypertrophic cardiomyopathy (HCM) and to assess associations with echocardiographic and clinical parameters of disease. While a common end point in adults with HCM, it is unclear whether diffuse myocardial fibrosis occurs early in the disease. Cardiac magnetic resonance (CMR) estimation of myocardial post-contrast longitudinal relaxation time (T1) is an increasingly used method to estimate diffuse fibrosis. T1 measurements were taken using standard multi-breath-hold spoiled gradient echo phase-sensitive inversion-recovery CMR before and 15 min after the injection of gadolinium. The tissue-blood partition coefficient was calculated as a function of the ratio of T1 change of myocardium compared with blood. An echocardiogram and blood brain natriuretic peptide (BNP) levels were obtained on the day of the CMR. Twelve controls (mean age 12.8 years; 7 male) and 28 patients with HCM (mean age 12.8 years; 21 male) participated. The partition coefficient for both septal (0.27 ± 0.17 vs. 0.13 ± 0.09; p = 0.03) and lateral walls (0.22 ± 0.09 vs. 0.07 ± 0.10; p 100 pg/ml) had raised lateral wall coefficients (0.27 ± 0.07 vs. 0.20 ± 0.07; p = 0.03), as did those with traditional risk factors for sudden death (0.27 ± 0.06 vs. 0.18 ± 0.08; p = 0.007). Diffuse fibrosis, measured by the partition coefficient technique, is demonstrable in children and adolescents with HCM. Markers of fibrosis show an association with symptoms and raised serum BNP. Further study of the prognostic implication of this technique in young patients with HCM is warranted.

  11. Identification of high risk patients with hypertrophic cardiomyopathy in a northern Greek population

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    Karvounis Charalambos

    2009-07-01

    Full Text Available Abstract Background The percentage of hypertrophic cardiomyopathy (HCM patients who are in high risk for Sudden Death (SD constitutes only a minority of all HCM population but the incidence of SD in this subset is high (at least 5% annually. The identification of this small but important proportion of high risk HCM patients has been the clue in the clinical evaluation of these patients. Methods Our study cohort consisted from 123 patients with HCM who are currently followed up in our Institution. Five clinical risk factors were assessed: a family history of premature SD, unexplained syncope, Non Sustained Ventricular Tachycardia (NSVT on 24-h ECG monitoring, Abnormal Blood Pressure Response (ABPR during upright exercise testing and Maximum left ventricular Wall Thickness (MWT ≥30 mm. The purpose of our study was the identification of high risk HCM patients coming from Northern Greece. Results Fifteen patients (12.2% of the whole cohort had MWT ≥ 30 mm, 30 patients (24.4% had an ABPR to exercise, 17 patients (13.8% had episodes of NSVT in 24-h Holter monitoring, 17 patients (13.8% suffered from syncope, and 8 patients (6.5% had a positive family history of premature SD. Data analysis revealed that 74 patients (60.1% had none risk factor. Twenty four patients (19.5% had 1 risk factor, 17 patients (13.8% had 2 risk factors, 4 patients (3.25% had 3 risk factors, and 4 patients (3.25% had 4 risk factors, while none patient had 5 risk factors. Twenty five patients (20.3% had 2 or more risk factors. Conclusion This study for the first time confirms that, although a 60% of patients with HCM coming from a regional Greek population are in low risk for SD, a substantial proportion (almost 20% carries a high risk for SD justifying prophylactic therapy with amiodaron or ICD implantation.

  12. Positron computed tomography for myocardial uptake of N-13 ammonia in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Yoshida, Katsuya; Himi, Toshiharu; Imai, Hitoshi; Shukuya, Masaki; Masuda, Yoshiaki; Inagaki, Yoshiaki; Yamasaki, Toshiro; Tateno, Yukio.

    1985-01-01

    In the present study, positron computed tomography (PCT) was used to evaluate the myocardial uptake of N-13 ammonia in patients with hypertrophic cardiomyopathy (HCM). Eight subjects including two normal persons, four patients with HCM, and two with old myocardial farction (OMI) were selected for the study. N-13 ammonia was administered intravenously as a bolus and, commencing with the tracer injection, serial 30-second PCT scans were performed. The results were summarized as follows: 1. The first scan exhibiting cardiac blood pool images revealed a reduced left ventricular cavity in the HCM subjects. 2. After clearance of N-13 from the cardiopulmonary vasculature, the left ventricular myocardium was clearly visualized and an increased myocardial mass with characteristic morphology was demonstrated in the HCM subjects. 3. Detailed analysis of the time-activity curves of the blood pool and myocardium derived from these serial scan images disclosed two uptake phases in the uptake mode of N-13 ammonia. In the initial phase within three minutes, the myocardial uptake of N-13 was rapid in the normal and OMI subjects, whereas its significant delay was observed in the HCM subjects. This may reflect an abnormal initial extraction of N-13 ammonia in the HCM patients compared with the other subjects. 4. Subsequently, in the second phase, which was characterized by a gradual increase of N-13 in the myocardium, the HCM subjects revealed higher uptake ratios than did the others. This may indicate an increased extraction of metabolites of N-13 ammonia during the second phase. These preliminary results undersore the usefulness of dynamic PCT with N-13 ammonia for the assessment of HCM. (author)

  13. The association between brain natriuretic peptide and tissue Doppler parameters in children with hypertrophic cardiomyopathy

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    Taliha Öner

    2016-01-01

    Full Text Available In this study, we investigated the association between brain natriuretic peptide (BNP levels and tissue Doppler imaging measurements and also screening for deadly mutations in patients with hypertrophic cardiomyopathy (HCM. We enrolled 20 patients diagnosed with HCM (age:10.7±5 years (1-17, 85% male, weight:42.25±23.10 kg, height:141.80±32.45 cm and 20 age, gender and body weight-matched control subjects. We performed electrocardiography, transthoracic echocardiography, and tissue Doppler echocardiography in each group, as well as genetic tests (for Arg403Gln, Arg453Cys, Arg719Trp and Arg719Gln mutations in MYH7 Exons 13, 14, 19 and BNP in the patients. The patients were divided into two groups according to the presence (Group 1 or absence (Group 2 of left ventricular (LV outflow tract obstruction. QTc dispersion and the LV ejection fraction and left atrial (LA volume index were increased in Group 1. The LA volume index and the mitral and septal E/Ea ratio and septum Z-score were increased while the mitral lateral annulus and septal annulus Ea wave velocities and the mitral and tricuspid E/A ratio were decreased in patients with high levels of BNP compared to those with normal BNP levels. There were no mutations that are associated with increased risk of sudden death found in patients included in this study. In the light of our data, we conclude that such parameters BNP levels above the 98 pg/mL, septal thickness Z-score ˃6, and higher mitral and septal E/Ea ratios can be used for management of patients with HCM according to life-threatening conditions.

  14. Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Maron, Martin S; Finley, John J; Bos, J Martijn; Hauser, Thomas H; Manning, Warren J; Haas, Tammy S; Lesser, John R; Udelson, James E; Ackerman, Michael J; Maron, Barry J

    2008-10-07

    Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease characterized by a diverse clinical and phenotypic spectrum. This study reports the prevalence, morphology, clinical course, and management of an underrecognized subgroup of HCM patients with left ventricular apical aneurysms. Of 1299 HCM patients, 28 (2%) were identified with left ventricular apical aneurysms, including a pair of identical twins. Aneurysms were recognized at a wide age range (26 to 83 years), including 12 patients (43%) who were rims, and were associated with transmural (and often more extensive) myocardial scarring identified by late gadolinium enhancement cardiovascular magnetic resonance. Apical aneurysms were recognized by echocardiography in only 16 of 28 patients (57%) but by cardiovascular magnetic resonance in the 12 patients undetected by echocardiography. Left ventricular chamber morphology varied; however, 19 patients (68%) showed an "hourglass" contour, with midventricular hypertrophy producing muscular narrowing and intracavitary gradients in 9 patients (74+/-42 mm Hg). Sarcomeric protein missense mutations known to cause other phenotypic expressions of HCM were present in 3 patients. Over 4.1+/-3.7 years of follow-up, 12 patients (43%) with left ventricular apical aneurysms experienced adverse disease complications (event rate, 10.5%/y), including sudden death, appropriate implantable cardioverter-defibrillator discharges, nonfatal thromboembolic stroke, and progressive heart failure and death. Patients with left ventricular apical aneurysms represent an underappreciated subset in the heterogeneous HCM disease spectrum with important clinical implications, often requiring a high index of suspicion and cardiovascular magnetic resonance for identification. Apical aneurysms in HCM are associated with substantial cardiovascular morbidity and mortality and raise novel treatment considerations.

  15. Characteristic systolic waveform of left ventricular longitudinal strain rate in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Okada, Kazunori; Kaga, Sanae; Mikami, Taisei; Masauzi, Nobuo; Abe, Ayumu; Nakabachi, Masahiro; Yokoyama, Shinobu; Nishino, Hisao; Ichikawa, Ayako; Nishida, Mutsumi; Murai, Daisuke; Hayashi, Taichi; Shimizu, Chikara; Iwano, Hiroyuki; Yamada, Satoshi; Tsutsui, Hiroyuki

    2017-05-01

    We analyzed the waveform of systolic strain and strain-rate curves to find a characteristic left ventricular (LV) myocardial contraction pattern in patients with hypertrophic cardiomyopathy (HCM), and evaluated the utility of these parameters for the differentiation of HCM and LV hypertrophy secondary to hypertension (HT). From global strain and strain-rate curves in the longitudinal and circumferential directions, the time from mitral valve closure to the peak strains (T-LS and T-CS, respectively) and the peak systolic strain rates (T-LSSR and T-CSSR, respectively) were measured in 34 patients with HCM, 30 patients with HT, and 25 control subjects. The systolic strain-rate waveform was classified into 3 patterns ("V", "W", and "√" pattern). In the HCM group, T-LS was prolonged, but T-LSSR was shortened; consequently, T-LSSR/T-LS ratio was distinctly lower than in the HT and control groups. The "√" pattern of longitudinal strain-rate waveform was more frequently seen in the HCM group (74 %) than in the control (4 %) and HT (20 %) groups. Similar but less distinct results were obtained in the circumferential direction. To differentiate HCM from HT, the sensitivity and specificity of the T-LSSR/T-LS ratio patients with HCM, a reduced T-LSSR/T-LS ratio and a characteristic "√"-shaped waveform of LV systolic strain rate was seen, especially in the longitudinal direction. The timing and waveform analyses of systolic strain rate may be useful to distinguish between HCM and HT.

  16. Phenotypic expression in hypertrophic cardiomyopathy and late gadolinium enhancement on cardiac magnetic resonance.

    Science.gov (United States)

    Caetano, Francisca; Botelho, Ana; Trigo, Joana; Silva, Joana; Almeida, Inês; Venâncio, Margarida; Pais, João; Sanches, Conceição; Leitão Marques, António

    2014-05-01

    The prognostic value of late gadolinium enhancement (LGE) for risk stratification of hypertrophic cardiomyopathy (HCM) patients is the subject of disagreement. We set out to examine the association between clinical and morphological variables, risk factors for sudden cardiac death and LGE in HCM patients. From a population of 78 patients with HCM, we studied 53 who underwent cardiac magnetic resonance. They were divided into two groups according to the presence or absence of LGE. Ventricular arrhythmias and morbidity and mortality during follow-up were analyzed. Patients with LGE were younger at the time of diagnosis (p=0.046) and more often had a family history of sudden death (p=0.008) and known coronary artery disease (p=0.086). On echocardiography they had greater maximum wall thickness (p=0.007) and left atrial area (p=0.037) and volume (p=0.035), and more often presented a restrictive pattern of diastolic dysfunction (p=0.011) with a higher E/É ratio (p=0.003) and left ventricular systolic dysfunction (p=0.038). Cardiac magnetic resonance supported the association between LGE and previous echocardiographic findings: greater left atrial area (p=0.029) and maximum wall thickness (p<0.001) and lower left ventricular ejection fraction (p=0.056). Patients with LGE more often had an implantable cardioverter-defibrillator (ICD) (p=0.015). At follow-up, no differences were found in the frequency of ventricular arrhythmias, appropriate ICD therapies or mortality. The presence of LGE emerges as a risk marker, associated with the classical predictors of sudden cardiac death in this population. However, larger studies are required to confirm its independent association with clinical events. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  17. Recent Advances in the Molecular Genetics of Familial Hypertrophic Cardiomyopathy in South Asian Descendants

    Directory of Open Access Journals (Sweden)

    Jessica Kraker

    2016-10-01

    Full Text Available The South Asian population, numbered at 1.8 billion, is estimated to comprise around 20% of the global population and 1% of the American population, and has one of the highest rates of cardiovascular disease. While South Asians show increased classical risk factors for developing heart failure, the role of population-specific genetic risk factors has not yet been examined for this group. Hypertrophic cardiomyopathy (HCM is one of the major cardiac genetic disorders among South Asians, leading to contractile dysfunction, heart failure, and sudden cardiac death. This disease displays autosomal dominant inheritance, and it is associated with a large number of variants in both sarcomeric and non-sarcomeric proteins. South Asians, a population with large ethnic diversity, potentially carries region-specific polymorphisms. There is high variability in disease penetrance and phenotypic expression of variants associated with HCM. Thus, extensive studies are required to decipher pathogenicity and the physiological mechanisms of these variants, as well as the contribution of modifier genes and environmental factors to disease phenotypes. Conducting genotype-phenotype correlation studies will lead to improved understanding of HCM and, consequently, improved treatment options for this high-risk population. The objective of this review is to report the history of cardiovascular disease and HCM in South Asians, present previously published pathogenic variants, and introduce current efforts to study HCM using induced pluripotent stem cell-derived cardiomyocytes, next-generation sequencing, and gene editing technologies. The authors ultimately hope that this review will stimulate further research, drive novel discoveries, and contribute to the development of personalized medicine with the aim of expanding therapeutic strategies for HCM.

  18. Long-term outcomes of septal reduction for obstructive hypertrophic cardiomyopathy.

    Science.gov (United States)

    Sedehi, Daniel; Finocchiaro, Gherardo; Tibayan, Yen; Chi, Jeffrey; Pavlovic, Aleksandra; Kim, Young M; Tibayan, Frederick A; Reitz, Bruce A; Robbins, Robert C; Woo, Joseph; Ha, Richard; Lee, David P; Ashley, Euan A

    2015-07-01

    Surgical myectomy and alcohol septal ablation (ASA) aim to decrease left ventricular outflow tract (LVOT) gradient in hypertrophic cardiomyopathy (HCM). Outcome of myectomy beyond 10 years has rarely been described. We describe 20 years of follow-up of surgical myectomy and 5 years of follow-up for ASA performed for obstructive HCM. We studied 171 patients who underwent myectomy for symptomatic LVOT obstruction between 1972 and 2006. In addition, we studied 52 patients who underwent ASA for the same indication and who declined surgery. Follow-up of New York Heart Association (NYHA) functional class, echocardiographic data, and vital status were obtained from patient records. Mortality rates were compared with expected mortality rates of age- and sex-matched populations. Surgical myectomy improved NYHA class (2.74±0.65 to 1.54±0.74, phistorical data from non-operated HCM patients. Survival after ASA at 2 and 5 years was 97.8% and 94.7%, respectively. Short-term (5 year) survival after ASA (SMR=0.61, p=0.48) was comparable to that of the general population. Long-term follow-up of septal reduction strategies in obstructive HCM reveals that surgical myectomy and ASA are effective for symptom relief and LVOT gradient reduction and are associated with favorable survival. While overall prognosis for the community HCM population is similar to the general population, the need for surgical myectomy may identify a sub-group with poorer long-term prognosis. We await long-term outcomes of more extensive myectomy approaches adopted in the past 10 years at major institutions. Copyright © 2015. Published by Elsevier Ltd.

  19. Eccentric apical hypertrophic cardiomyopathy unmasked by multimodality imaging: an uncommon but missed cause of out of hospital cardiac arrest

    Science.gov (United States)

    Towe, Eric; Sharma, Saurabh; Geske, Jeffrey; Ackerman, Michael J

    2015-01-01

    A woman in her late 50s experienced a witnessed, sudden out of hospital cardiac arrest. Initial workup included coronary angiography, transthoracic echocardiogram and a CT scan of the chest to rule out pulmonary embolus. She was subsequently discharged home without an implantable cardioverter defibrillator (ICD) or a life vest. On follow-up at another facility, an ICD was placed and a Holter monitor showed no ventricular ectopy. Further transthoracic echocardiographic images were obtained, which were suggestive of apical hypertrophic cardiomyopathy. A limited transthoracic echocardiogram with contrast was performed, which did not elucidate the hypertrophy. However, eccentric left ventricular apical wall hypertrophy was visualised by a coronary CT scan. PMID:26153133

  20. Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Ahmad, Shamim; Bahl, Ajay

    2009-01-01

    The aim of the current study was to determine the frequency of mutations in the beta-myosin heavy chain gene (MYH7) in a cohort of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) and their families, and to investigate correlations between genotype and phenotype. About 130...... consecutive patients diagnosed with HCM or DCM (69 with HCM and 61 with DCM) attending the cardiology clinic of Post Graduate Institute of Medical Education and Research were screened for mutations in the MYH7 gene. The control group for genetic studies consisted of 100 healthy subjects. We report 14...... mutations in 6 probands (5 probands in HCM and 1 proband in DCM) and their family members. Out of these 6 mutations, 3 are new and are being reported for the first time. One known mutation (p.Gly716Arg) was found to be "de novo" which resulted in severe asymmetric septal hypertrophy (31 mm) and resulted...

  1. MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

    Science.gov (United States)

    Baruffini, Enrico; Dallabona, Cristina; Invernizzi, Federica; Yarham, John W; Melchionda, Laura; Blakely, Emma L; Lamantea, Eleonora; Donnini, Claudia; Santra, Saikat; Vijayaraghavan, Suresh; Roper, Helen P; Burlina, Alberto; Kopajtich, Robert; Walther, Anett; Strom, Tim M; Haack, Tobias B; Prokisch, Holger; Taylor, Robert W; Ferrero, Ileana; Zeviani, Massimo; Ghezzi, Daniele

    2013-11-01

    We report three families presenting with hypertrophic cardiomyopathy, lactic acidosis, and multiple defects of mitochondrial respiratory chain (MRC) activities. By direct sequencing of the candidate gene MTO1, encoding the mitochondrial-tRNA modifier 1, or whole exome sequencing analysis, we identified novel missense mutations. All MTO1 mutations were predicted to be deleterious on MTO1 function. Their pathogenic role was experimentally validated in a recombinant yeast model, by assessing oxidative growth, respiratory activity, mitochondrial protein synthesis, and complex IV activity. In one case, we also demonstrated that expression of wt MTO1 could rescue the respiratory defect in mutant fibroblasts. The severity of the yeast respiratory phenotypes partly correlated with the different clinical presentations observed in MTO1 mutant patients, although the clinical outcome was highly variable in patients with the same mutation and seemed also to depend on timely start of pharmacological treatment, centered on the control of lactic acidosis by dichloroacetate. Our results indicate that MTO1 mutations are commonly associated with a presentation of hypertrophic cardiomyopathy, lactic acidosis, and MRC deficiency, and that ad hoc recombinant yeast models represent a useful system to test the pathogenic potential of uncommon variants, and provide insight into their effects on the expression of a biochemical phenotype. © 2013 The Authors. *Human Mutation published by Wiley Periodicals, Inc.

  2. Early detection of myocardial dysfunction using two-dimensional speckle tracking echocardiography in a young cat with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ryohei Suzuki

    2018-02-01

    Full Text Available Case summary A 5-month-old intact female Scottish Fold cat was presented for cardiac evaluation. Careful auscultation detected a slight systolic murmur (Levine I/VI. The findings of electrocardiography, thoracic radiography, non-invasive blood pressure measurements and conventional echocardiographic studies were unremarkable. However, two-dimensional speckle tracking echocardiography revealed abnormalities in myocardial deformations, including decreased early-to-late diastolic strain rate ratios in longitudinal, radial and circumferential directions, and deteriorated segmental systolic longitudinal strain. At the follow-up examinations, the cat exhibited echocardiographic left ventricular hypertrophy and was diagnosed with hypertrophic cardiomyopathy using conventional echocardiography. Relevance and novel information This is the first report on the use of two-dimensional speckle tracking echocardiography for the early detection of myocardial dysfunction in a cat with hypertrophic cardiomyopathy; the myocardial dysfunction was detected before the development of hypertrophy. The findings from this case suggest that two-dimensional speckle tracking echocardiography can be useful for myocardial assessment when conventional echocardiographic and Doppler findings are ambiguous.

  3. Erythrocyte creatine as a marker of intravascular hemolysis due to left ventricular outflow tract obstruction in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kubo, Toru; Okumiya, Toshika; Baba, Yuichi; Hirota, Takayoshi; Tanioka, Katsutoshi; Yamasaki, Naohito; Sugiura, Tetsuro; Doi, Yoshinori L; Kitaoka, Hiroaki

    2016-03-01

    Erythrocyte creatine, a marker of erythrocyte age that increases with shortening of erythrocyte survival, has been reported to be a quantitative and reliable marker for intravascular hemolysis. We hypothesized that hemolysis could also occur due to intraventricular obstruction in patients with hypertrophic cardiomyopathy (HCM). The purpose of this study was to examine the presence of subclinical hemolysis and the relation between intravascular hemolysis and intraventricular pressure gradient (IVPG). We measured erythrocyte creatine in 92 HCM patients. Twelve patients had left ventricular outflow tract obstruction (LVOTO), 4 had midventricular obstruction (MVO), and the remaining 76 were non-obstructive. Erythrocyte creatine levels ranged from 0.92 to 4.36μmol/g hemoglobin. Higher levels of erythrocyte creatine were associated with higher IVPG (r=0.437, pcreatine levels are high (≥1.8μmol/g hemoglobin), subclinical hemolysis is considered to be present. Half of LVOTO patients and no MVO patients showed high erythrocyte creatine levels. Although non-obstructive patients did not show significant intraventricular obstruction at rest, some showed high erythrocyte creatine levels. When LVOT-PG was measured during the strain phase of the Valsalva maneuver in 20 non-obstructive patients, 7 of those 20 patients showed LVOTO. In the 20 patients, there was no relation between erythrocyte creatine levels and LVOT-PG before the Valsalva maneuver (r=0.125, p=0.600), whereas there was a significant correlation between erythrocyte creatine and LVOT-PG provoked by the Valsalva maneuver (r=0.695, p=0.001). There is biochemical evidence of subclinical hemolysis in patients with HCM, and this hemolysis seems to be associated with LVOTO provoked by daily physical activities. Copyright © 2015 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  4. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

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    Rebecca Josowitz

    2016-09-01

    Full Text Available Germline mutations in BRAF cause cardio-facio-cutaneous syndrome (CFCS, whereby 40% of patients develop hypertrophic cardiomyopathy (HCM. As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC model for CFCS from three patients with activating BRAF mutations. By cell sorting for SIRPα and CD90, we generated a method to examine hiPSC-derived cell type-specific phenotypes and cellular interactions underpinning HCM. BRAF-mutant SIRPα+/CD90− cardiomyocytes displayed cellular hypertrophy, pro-hypertrophic gene expression, and intrinsic calcium-handling defects. BRAF-mutant SIRPα−/CD90+ cells, which were fibroblast-like, exhibited a pro-fibrotic phenotype and partially modulated cardiomyocyte hypertrophy through transforming growth factor β (TGFβ paracrine signaling. Inhibition of TGFβ or RAS/MAPK signaling rescued the hypertrophic phenotype. Thus, cell autonomous and non-autonomous defects underlie HCM due to BRAF mutations. TGFβ inhibition may be a useful therapeutic option for patients with HCM due to RASopathies or other etiologies.

  5. Hypertrophic Cardiomyopathy in Children, Adolescents, and Young Adults Associated With Low Cardiovascular Mortality With Contemporary Management Strategies.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Casey, Susan A; Lesser, John R; Garberich, Ross F; McGriff, Deepa M; Maron, Martin S

    2016-01-05

    Youthful age has been considered the time of greatest risk for patients with hypertrophic cardiomyopathy (HCM), largely because of the possibility of sudden death. The last 2 decades have witnessed more reliable identification of at-risk patients and utilization of implantable cardioverter-defibrillators for prevention of sudden death, and other contemporary treatment options. Whether such management advances have significantly altered the considerable mortality rate for young HCM patients remains unresolved. We studied long-term outcome in 474 consecutive HCM patients between 7 and 29 years of age presenting at 2 referral institutions. Over 7.1±5.1 years of follow-up (6.0 [3.0, 10.0]), 452 patients (95%) survived, with 95% experiencing no or mild symptoms. HCM-related death occurred in 18 patients (3%; 0.54%/y): arrhythmic sudden death (n=12), progressive heart failure and heart transplant complications (n=5), or postoperatively (n=1). In contrast, aborted life-threatening events occurred in 63 other high-risk patients (13%) with implantable cardioverter-defibrillator interventions for ventricular tachyarrhythmias (n=31), resuscitated out-of-hospital cardiac arrest (n=20), or heart transplant for advanced heart failure (n=12), 1.8%/y, 3-fold higher than HCM mortality. Five- and 10-year survival (considering only HCM deaths) was high (97% and 94%, respectively), virtually identical to that reported in middle-aged adult HCM patients (98% and 94%, P=0.23). In a large hospital-based cohort of young HCM patients, representing an age group considered at greatest risk, low mortality rates can be achieved with the application of contemporary cardiovascular treatment strategies, largely because of reliable identification of high-risk patients who benefited from implantable cardioverter-defibrillators for sudden death prevention, thereby creating the opportunity for extended longevity and good quality of life. © 2015 American Heart Association, Inc.

  6. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

    Science.gov (United States)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

    2017-08-01

    The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

  7. Contribution of mitral valve leaflet length and septal wall thickness to outflow tract obstruction in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Morant, Kareem; Mikami, Yoko; Nevis, Immaculate; McCarty, David; Stirrat, John; Scholl, David; Rajchl, Martin; Giannoccaro, Peter; Kolman, Louis; Heydari, Bobby; Lydell, Carmen; Howarth, Andrew; Grant, Andrew; White, James A

    2017-08-01

    We sought to examine whether elongation of the mitral valve leaflets in patients with hypertrophic cardiomyopathy (HCM) is synergistic to septal wall thickness (SWT) in the development of left ventricular outflow tract obstruction (LVOTO). HCM is a common genetic cardiac disease characterized by asymmetric septal hypertrophy and predisposition towards LVOTO. It has been reported that elongation of the mitral valve leaflets may be a primary phenotypic feature and contribute to LVOTO. However, the relative contribution of this finding versus SWT has not been studied. 152 patients (76 with HCM and 76 non-diseased age, race and BSA-matched controls) and 18 young, healthy volunteers were studied. SWT and the anterior mitral valve leaflet length (AMVLL) were measured using cine MRI. The combined contribution of these variables (SWT × AMVLL) was described as the Septal Anterior Leaflet Product (SALP). Peak LVOT pressure gradient was determined by Doppler interrogation and defined as "obstructive" if ≥ 30 mmHg. Patients with HCM were confirmed to have increased AMVLL compared with controls and volunteers (p SALP were significantly higher in patients with LVOTO (N = 17) versus without. SALP showed modest improvement in predictive accuracy for LVOTO (AUC = 0.81) among the HCM population versus SWT alone (AUC = 0.77). However, in isolated patients this variable identified patients with LVOTO despite modest SWT. Elongation of the AMVLL is a primary phenotypic feature of HCM. While incremental contributions to LVOTO appear modest at a population level, specific patients may have dominant contribution to LVOTO. The combined marker of SALP allows for maintained identification of such patients despite modest increases in SWT.

  8. Divergent effects of adrenaline in human induced pluripotent stem cell-derived cardiomyocytes obtained from hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Chandra Prajapati

    2018-02-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is a common inherited cardiac disease that affects the heart muscle with diverse clinical outcomes. HCM can cause sudden cardiac death (SCD during or immediately after mild to rigorous physical activity in young patients. However, the mechanism causing SCD as a result of exercise remains unknown, but exercise-induced ventricular arrhythmias are thought to be responsible for this fatal consequence. To understand the disease mechanism behind HCM in a better way, we generated patient-specific induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs from HCM patients carrying either the MYBPC3-Gln1061X or TPM1-Asp175Asn mutation. We extensively investigated the effects of low to high concentrations of adrenaline on action potential characteristics, and the occurrence of arrhythmias in the presence of various concentrations of adrenaline and in wash-out condition. We classified and quantified different types of arrhythmias observed in hiPSC-CMs, and found that the occurrence of arrhythmias was dependent on concentrations of adrenaline and positions of mutations in genes causing HCM. In addition, we observed ventricular tachycardia types of arrhythmias in hiPSC-CMs carrying the TPM1-Asp175Asn mutation. We additionally examined the antiarrhythmic potency of bisoprolol in HCM-specific hiPSC-CMs. However, bisoprolol could not reduce the occurrence of arrhythmias during administration or during the wash-out condition of adrenaline in HCM-specific hiPSC-CMs. Our study demonstrates hiPSC-CMs as a promising tool for studying HCM. The experimental design used in this study could be suitable and beneficial for studying other components and drugs related to cardiac disease in general.

  9. Is myocardial fatty acid metabolism different between hypertrophic cardiomyopathy and hypertensive hypertrophy?

    International Nuclear Information System (INIS)

    Narita, Michihiro; Kurihara, Tadashi; Usami, Masahisa; Honda, Minoru

    1994-01-01

    To investigate characteristics of fatty acid metabolism in hypertrophic cardiomyopathy (HCM), we performed myocardial imaging with 123 I-iodophenyl-3-methylpentadecanoic acid (BMIPP) in 24 HCM patients, 13 patients with hypertensive hypertrophy (HT) and 10 normal subjects. Rest myocardial imaging with 123 I-BMIPP was obtained at 20 minutes and 3 hours after 123 I-BMIPP injection. Rest 201 Tl imaging was also performed. In addition to ordinary tomography, whole body imaging was performed to calculate %Uptake (percentage of cardiac uptake of the isotope to total injected dose). As global indexes of fatty acid metabolism, we calculated two parameters; Uptake Ratio (%Uptake of 123 I-BMIPP normalized by myocardial perfusion) and WOR (percent reduction of myocardial 123 I-BMIPP within 3 hours). Regional abnormality was evaluated by visual assessment of ordinary tomograms and by BMIPP/Tl map. BMIPP/Tl map was made from Bull's-eye maps of 123 I-BMIPP and 201 Tl, and it represented 123 I-BMIPP uptake normalized by myocardial perfusion of each pixel which constructed the image. %Uptake of 123 I-BMIPP was not different among three groups. Uptake Ratio was significantly (p HT (1.03±0.08)>HCM (0.87±0.09). WOR of 123 I-BMIPP was accerelated in HCM (12.7±4.7%) and HT (10.2±2.9%) compared with normal (5.1±3.1%) (p 123 I-BMIPP distribution was found in 17 of 24 patients (71%) including 3 patients with equivocal abnormality. In HT patients, only equivocal abnormality was observed in 23%. In BMIPP/Tl map, abnormality was observed in 92% of HCM and 8% of HT. Although global myocardial fatty acid metabolism was equally disturbed both in HCM and HT, regional abnormality of fatty acid metabolism was observed preferetially in HCM. This indicated myocardial fatty acid metabolism was not identical between HCM and HT. (author)

  10. Reproducibility of in-vivo diffusion tensor cardiovascular magnetic resonance in hypertrophic cardiomyopathy

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    McGill Laura-Ann

    2012-12-01

    Full Text Available Abstract Background Myocardial disarray is an important histological feature of hypertrophic cardiomyopathy (HCM which has been studied post-mortem, but its in-vivo prevalence and extent is unknown. Cardiac Diffusion Tensor Imaging (cDTI provides information on mean intravoxel myocyte orientation and potentially myocardial disarray. Recent technical advances have improved in-vivo cDTI, and the aim of this study was to assess the interstudy reproducibility of quantitative in-vivo cDTI in patients with HCM. Methods and results A stimulated-echo single-shot-EPI sequence with zonal excitation and parallel imaging was implemented. Ten patients with HCM were each scanned on 2 different days. For each scan 3 short axis mid-ventricular slices were acquired with cDTI at end systole. Fractional anisotropy (FA, mean diffusivity (MD, and helix angle (HA maps were created using a cDTI post-processing platform developed in-house. The mean ± SD global FA was 0.613 ± 0.044, MD was 0.750 ± 0.154 × 10-3 mm2/s and HA was epicardium −34.3 ± 7.6°, mesocardium 3.5 ± 6.9° and endocardium 38.9 ± 8.1°. Comparison of initial and repeat studies showed global interstudy reproducibility for FA (SD = ± 0.045, Coefficient of Variation (CoV = 7.2%, MD (SD = ± 0.135 × 10-3 mm2/s, CoV = 18.6% and HA (epicardium SD = ± 4.8°; mesocardium SD = ± 3.4°; endocardium SD = ± 2.9°. Reproducibility of FA was superior to MD (p = 0.003. Global MD was significantly higher in the septum than the reference lateral wall (0.784 ± 0.188 vs 0.750 ± 0.154 x10-3 mm2/s, p  Conclusions To the best of our knowledge, this is the first study to assess the interstudy reproducibility of DTI in the human HCM heart in-vivo and the largest cDTI study in HCM to date. Our results show good reproducibility of FA, MD and HA which indicates that current technology yields robust in-vivo measurements that have potential clinical value. The

  11. Role of late gadolinium enhancement cardiovascular magnetic resonance in the risk stratification of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Ismail, Tevfik F; Jabbour, Andrew; Gulati, Ankur; Mallorie, Amy; Raza, Sadaf; Cowling, Thomas E; Das, Bibek; Khwaja, Jahanzaib; Alpendurada, Francisco D; Wage, Ricardo; Roughton, Michael; McKenna, William J; Moon, James C; Varnava, Amanda; Shakespeare, Carl; Cowie, Martin R; Cook, Stuart A; Elliott, Perry; O'Hanlon, Rory; Pennell, Dudley J; Prasad, Sanjay K

    2014-12-01

    Myocardial fibrosis identified by late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) in patients with hypertrophic cardiomyopathy (HCM) is associated with adverse cardiovascular events, but its value as an independent risk factor for sudden cardiac death (SCD) is unknown. We investigated the role of LGE-CMR in the risk stratification of HCM. We conducted a prospective cohort study in a tertiary referral centre. Consecutive patients with HCM (n=711, median age 56.3 years, IQR 46.7-66.6; 70.0% male) underwent LGE-CMR and were followed for a median 3.5 years. The primary end point was SCD or aborted SCD. Overall, 471 patients (66.2%) had myocardial fibrosis (median 5.9% of left ventricular mass, IQR: 2.2-13.3). Twenty-two (3.1%) reached the primary end point. The extent but not the presence of fibrosis was a significant univariable predictor of the primary end point (HR per 5% LGE: 1.24, 95% CI 1.06 to 1.45; p=0.007 and HR for LGE: 2.69, 95% CI 0.91 to 7.97; p=0.073, respectively). However, on multivariable analysis, only LV-EF remained statistically significant (HR: 0.92, 95% CI 0.89 to 0.95; p<0.001). For the secondary outcome of cardiovascular mortality/aborted SCD, the presence and the amount of fibrosis were significant predictors on univariable but not multivariable analysis after adjusting for LV-EF and non-sustained ventricular tachycardia. The amount of myocardial fibrosis was a strong univariable predictor of SCD risk. However, this effect was not maintained after adjusting for LV-EF. Further work is required to elucidate the interrelationship between fibrosis and traditional predictors of outcome in HCM. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  12. Heart rate variability analysis based on time–frequency representation and entropies in hypertrophic cardiomyopathy patients

    International Nuclear Information System (INIS)

    Clariá, F; Vallverdú, M; Caminal, P; Baranowski, R; Chojnowska, L

    2008-01-01

    In hypertrophic cardiomyopathy (HCM) patients there is an increased risk of premature death, which can occur with little or no warning. Furthermore, classification for sudden cardiac death on patients with HCM is very difficult. The aim of our study was to improve the prognostic value of heart rate variability (HRV) in HCM patients, giving insight into changes of the autonomic nervous system. In this way, the suitability of linear and nonlinear measures was studied to assess the HRV. These measures were based on time–frequency representation (TFR) and on Shannon and Rényi entropies, and compared with traditional HRV measures. Holter recordings of 64 patients with HCM and 55 healthy subjects were analyzed. The HCM patients consisted of two groups: 13 high risk patients, after aborted sudden cardiac death (SCD); 51 low risk patients, without SCD. Five-hour RR signals, corresponding to the sleep period of the subjects, were considered for the analysis as a comparable standard situation. These RR signals were filtered in the three frequency bands: very low frequency band (VLF, 0–0.04 Hz), low frequency band (LF, 0.04–0.15 Hz) and high frequency band (HF, 0.15–0.45 Hz). TFR variables based on instantaneous frequency and energy functions were able to classify HCM patients and healthy subjects (control group). Results revealed that measures obtained from TFR analysis of the HRV better classified the groups of subjects than traditional HRV parameters. However, results showed that nonlinear measures improved group classification. It was observed that entropies calculated in the HF band showed the highest statistically significant levels comparing the HCM group and the control group, p-value < 0.0005. The values of entropy measures calculated in the HCM group presented lower values, indicating a decreasing of complexity, than those calculated from the control group. Moreover, similar behavior was observed comparing high and low risk of premature death, the values of

  13. MYBPC3 hypertrophic cardiomyopathy can be detected by using advanced ECG in children and young adults.

    Science.gov (United States)

    Fernlund, E; Liuba, P; Carlson, J; Platonov, P G; Schlegel, T T

    2016-01-01

    The conventional ECG is commonly used to screen for hypertrophic cardiomyopathy (HCM), but up to 25% of adults and possibly larger percentages of children with HCM have no distinctive abnormalities on the conventional ECG, whereas 5 to 15% of healthy young athletes do. Recently, a 5-min resting advanced 12-lead ECG test ("A-ECG score") showed superiority to pooled criteria from the strictly conventional ECG in correctly identifying adult HCM. The purpose of this study was to evaluate whether in children and young adults, A-ECG scoring could detect echocardiographic HCM associated with the MYBPC3 genetic mutation with greater sensitivity than conventional ECG criteria and distinguish healthy young controls and athletes from persons with MYBPC3 HCM with greater specificity. Five-minute 12-lead ECGs were obtained from 15 young patients (mean age 13.2years, range 0-30years) with MYBPC3 mutation and phenotypic HCM. The conventional and A-ECG results of these patients were compared to those of 198 healthy children and young adults (mean age 13.2, range 1month-30years) with unremarkable echocardiograms, and to those of 36 young endurance-trained athletes, 20 of whom had athletic (physiologic) left ventricular hypertrophy. Compared with commonly used, age-specific pooled criteria from the conventional ECG, a retrospectively generated A-ECG score incorporating results from just 2 derived vectorcardiographic parameters (spatial QRS-T angle and the change in the vectorcardiographic QRS azimuth angle from the second to the third eighth of the QRS interval) increased the sensitivity of ECG for identifying MYBPC3 HCM from 46% to 87% (pyoung endurance-trained athletes (100% vs. 69% for conventional ECG criteria, pyoung adults, a 2-parameter 12-lead A-ECG score is retrospectively significantly more sensitive and specific than pooled, age-specific conventional ECG criteria for detecting MYBPC3-HCM and in distinguishing such patients from healthy controls, including endurance

  14. Recurrent Takotsubo Cardiomyopathy Related to Recurrent Thyrotoxicosis.

    Science.gov (United States)

    Patel, Keval; Griffing, George T; Hauptman, Paul J; Stolker, Joshua M

    2016-04-01

    Takotsubo cardiomyopathy, or transient left ventricular apical ballooning syndrome, is characterized by acute left ventricular dysfunction caused by transient wall-motion abnormalities of the left ventricular apex and mid ventricle in the absence of obstructive coronary artery disease. Recurrent episodes are rare but have been reported, and several cases of takotsubo cardiomyopathy have been described in the presence of hyperthyroidism. We report the case of a 55-year-old woman who had recurrent takotsubo cardiomyopathy, documented by repeat coronary angiography and evaluations of left ventricular function, in the presence of recurrent hyperthyroidism related to Graves disease. After both episodes, the patient's left ventricular function returned to normal when her thyroid function normalized. These findings suggest a possible role of thyroid-hormone excess in the pathophysiology of some patients who have takotsubo cardiomyopathy.

  15. Perioperative management of an elderly patient of hypertrophic obstructive cardiomyopathy for knee arthroplasty and the role of peripheral nerve blocks

    Directory of Open Access Journals (Sweden)

    Sunny Rupal

    2013-01-01

    Full Text Available This case report exemplifies how the anaesthetic technique of general anesthesia with continuous bilateral femoral nerve block for bilateral knee arthroplasty was well chosen for the management of perioperative complications in an elderly patient with hypertrophic obstructive cardiomyopathy (HOCM. A 69-year-old female patient of HOCM was scheduled for bilateral total knee replacement. Echocardiography revealed severe left ventricular outflow tract obstruction with peak systolic gradient of 56 mmHg. The surgery was conducted under general anaesthesia with invasive monitoring and bilateral continuous femoral nerve blocks for postoperative analgesia. Postoperatively, she developed pulmonary oedema due to the liberal administration of fluids. This complication was successfully managed without interrupting the management of pain. Management of patients with HOCM for noncardiac surgery requires knowledge of variable presentation of two forms of disease. Also, this case report highlights the practical advantage of continuous femoral nerve block (CFNBs over epidural anaesthesia.

  16. Intraoperative Two- and Three-Dimensional Transesophageal Echocardiography in Combined Myectomy-Mitral Operations for Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Nampiaparampil, Robert G; Swistel, Daniel G; Schlame, Michael; Saric, Muhamed; Sherrid, Mark V

    2018-03-01

    Transesophageal echocardiography is essential in guiding the surgical approach for patients with obstructive hypertrophic cardiomyopathy. Septal hypertrophy, elongated mitral valve leaflets, and abnormalities of the subvalvular apparatus are prominent features, all of which may contribute to left ventricular outflow tract obstruction. Surgery aims to alleviate the obstruction via an extended myectomy, often with an intervention on the mitral valve and subvalvular apparatus. The goal of intraoperative echocardiography is to assess the anatomic pathology and pathophysiology in order to achieve a safe intraoperative course and a successful repair. This guide summarizes the systematic evaluation of these patients to determine the best surgical plan. Copyright © 2017 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.

  17. Imaging and histology in the diagnosis of multiple papillary fibroelastomas in a patient with hypertrophic obstructive cardiomyopathy. Case report.

    Science.gov (United States)

    Ionescu, Alin Alexandru; Radulescu, Bogdan; Herlea, Vlad; Miclea, Ioan; Parepa, Irinel; Bubenek, Serban; Popescu, Bogdan Alexandru; Ginghina, Carmen; Jurcut, Ruxandra

    2017-11-29

    Papillary fibroelastomas (PFEs) are one of the most frequent primary cardiac tumors and occur more often in patients with hypertrophic obstructive cardiomyopathy (HOCM). PFEs have been linked to an increased risk of neurological events. We report a case of a 59-year-old woman with HOCM in whom echocardiography (transthoracic and transesophageal, using 2D and 3D techniques) revealed multiple masses in various locations in the left cardiac chambers. Surgical excision of the cardiac tumors and aortic valve replacement was performed and the pathologic report confirmed the diagnosis of PFEs. Patient followup using ultrasonography is crucial since recurrence is a possibility. Current cardiac ultrasound techniques are essential for diagnosing and for guiding the management of these conditions.

  18. Effect of amiodarone-induced hyperthyroidism on left ventricular outflow obstruction after septal myectomy for hypertrophic cardiomyopathy.

    Science.gov (United States)

    Pokorney, Sean D; Stone, Neil J; Passman, Rod; Oyer, David; Rigolin, Vera H; Bonow, Robert O

    2010-12-01

    Patients with obstructive hypertrophic cardiomyopathy who undergo septal myectomy are at risk for developing postoperative atrial fibrillation. Amiodarone is effective in treating this arrhythmia but is associated with multiple adverse effects, often with delayed onset. A novel case is described of a patient who developed type 2 amiodarone-induced hyperthyroidism that presented as recurrence of outflow obstruction after septal myectomy. The patient's symptoms and echocardiographic findings of outflow obstruction resolved substantially with the treatment of the amiodarone-induced hyperthyroidism. Amiodarone-induced hyperthyroidism of delayed onset can be a subtle diagnosis, requiring a high index of suspicion. In conclusion, recognition of this diagnosis in patients with recurrence of outflow obstruction by symptoms and cardiac imaging after septal myectomy may avoid unnecessary repeat surgical intervention. Copyright © 2010 Elsevier Inc. All rights reserved.

  19. Mitochondrial Dysfunctions Contribute to Hypertrophic Cardiomyopathy in Patient iPSC-Derived Cardiomyocytes with MT-RNR2 Mutation

    Directory of Open Access Journals (Sweden)

    Shishi Li

    2018-03-01

    Full Text Available Summary: Hypertrophic cardiomyopathy (HCM is the most common cause of sudden cardiac death in young individuals. A potential role of mtDNA mutations in HCM is known. However, the underlying molecular mechanisms linking mtDNA mutations to HCM remain poorly understood due to lack of cell and animal models. Here, we generated induced pluripotent stem cell-derived cardiomyocytes (HCM-iPSC-CMs from human patients in a maternally inherited HCM family who carry the m.2336T>C mutation in the mitochondrial 16S rRNA gene (MT-RNR2. The results showed that the m.2336T>C mutation resulted in mitochondrial dysfunctions and ultrastructure defects by decreasing the stability of 16S rRNA, which led to reduced levels of mitochondrial proteins. The ATP/ADP ratio and mitochondrial membrane potential were also reduced, thereby elevating the intracellular Ca2+ concentration, which was associated with numerous HCM-specific electrophysiological abnormalities. Our findings therefore provide an innovative insight into the pathogenesis of maternally inherited HCM. : In this article, Yan Q, Liu Z, Huang W, and colleagues show that patient-specific iPSCs as well as their derived cardiomyocytes carrying the m.2336T>C mutation in MT-RNR2 were generated to understand the pathogenic mechanism of maternally inherited HCM. MT-RNR2 mutation resulted in mitochondrial dysfunctions and ultrastructure defects, which induced abnormal Ca2+ homeostasis, then HCM-specific cellular and electrophysiological characteristics in iPSC-CMs. Keywords: mitochondrion, hypertrophic cardiomyopathy, induced pluripotent stem cells, MT-RNR2, maternal inheritance

  20. Tissue Doppler Imaging Combined with Advanced 12-Lead ECG Analysis Might Improve Early Diagnosis of Hypertrophic Cardiomyopathy in Childhood

    Science.gov (United States)

    Femlund, E.; Schlegel, T.; Liuba, P.

    2011-01-01

    Optimization of early diagnosis of childhood hypertrophic cardiomyopathy (HCM) is essential in lowering the risk of HCM complications. Standard echocardiography (ECHO) has shown to be less sensitive in this regard. In this study, we sought to assess whether spatial QRS-T angle deviation, which has shown to predict HCM in adults with high sensitivity, and myocardial Tissue Doppler Imaging (TDI) could be additional tools in early diagnosis of HCM in childhood. Methods: Children and adolescents with familial HCM (n=10, median age 16, range 5-27 years), and without obvious hypertrophy but with heredity for HCM (n=12, median age 16, range 4-25 years, HCM or sudden death with autopsy-verified HCM in greater than or equal to 1 first-degree relative, HCM-risk) were additionally investigated with TDI and advanced 12-lead ECG analysis using Cardiax(Registered trademark) (IMED Co Ltd, Budapest, Hungary and Houston). Spatial QRS-T angle (SA) was derived from Kors regression-related transformation. Healthy age-matched controls (n=21) were also studied. All participants underwent thorough clinical examination. Results: Spatial QRS-T angle (Figure/ Panel A) and septal E/Ea ratio (Figure/Panel B) were most increased in HCM group as compared to the HCM-risk and control groups (p less than 0.05). Of note, these 2 variables showed a trend toward higher levels in HCM-risk group than in control group (p=0.05 for E/Ea and 0.06 for QRS/T by ANOVA). In a logistic regression model, increased SA and septal E/Ea ratio appeared to significantly predict both the disease (Chi-square in HCM group: 9 and 5, respectively, p less than 0.05 for both) and the risk for HCM (Chi-square in HCM-risk group: 5 and 4 respectively, p less than 0.05 for both), with further increased predictability level when these 2 variables were combined (Chi-square 10 in HCM group, and 7 in HCM-risk group, p less than 0.01 for both). Conclusions: In this small material, Tissue Doppler Imaging and spatial mean QRS-T angle

  1. Hypertrophic Cardiomyopathy in Adulthood Associated With Low Cardiovascular Mortality With Contemporary Management Strategies.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Casey, Susan A; Link, Mark S; Lesser, John R; Chan, Raymond H M; Garberich, Ross F; Udelson, James E; Maron, Martin S

    2015-05-12

    Hypertrophic cardiomyopathy (HCM) has been prominently associated with adverse disease complications, including sudden death or heart failure death and a generally adverse prognosis, with annual mortality rates of up to 6%. This study determined whether recent advances in management strategy, including implantable cardioverter-defibrillators (ICDs), heart transplantation, or other therapeutic measures have significantly improved survival and the clinical course of adult HCM patients. We addressed long-term outcomes in 1,000 consecutive adult HCM patients presenting at 30 to 59 years of age (mean 45±8 years) over 7.2±5.2 years of follow-up. Of 1,000 patients, 918 (92%) survived to 53±9.2 years of age (range 32 to 80 years) with 91% experiencing no or only mild symptoms at last evaluation. HCM-related death occurred in 40 patients (4% [0.53%/year]) at 50±10 years from the following events: progressive heart failure (n=17); arrhythmic sudden death (SD) (n=17); and embolic stroke (n=2). In contrast, 56 other high-risk patients (5.6%) survived life-threatening events, most commonly with ICD interventions for ventricular tachyarrhythmias (n=33) or heart transplantation for advanced heart failure (n=18 [0.79%/year]). SD occurred in patients who declined ICD recommendations, had evaluations before application of prophylactic ICDs to HCM, or were without conventional risk factors. The 5- and 10-year survival rates (confined to HCM deaths) were 98% and 94%, respectively, not different from the expected all-cause mortality in the general U.S. population (p=0.25). Multivariate independent predictors of adverse outcome were younger age at diagnosis, female sex, and increased left atrial dimension. In a large longitudinally assessed adult HCM cohort, we have demonstrated that contemporary management strategies and treatment interventions, including ICDs for SD prevention, have significantly altered the clinical course, now resulting in a low disease-related mortality rate of

  2. Assessment of pathophysiology based on the left ventricular shape in five patients with midventricular obstructive hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Aoki, Mayumi; Uekita, Kazumi; Obata, Hiromi; Makiguchi, Noriko; Mitsuoka, Takao; Kikuchi, Kenjiro

    2007-01-01

    The pathophysiology of midventricular obstructive hypertrophic cardiomyopathy (MVO) is unknown. Patients with MVO and MVO-like cardiomyopathy were classified into three groups based on the cardioimaging morphological characteristics of the left ventricle to investigate their complications and treatment. Four patients with MVO and one patient with disease-like MVO were admitted in our hospital from 1999 to 2005. Group A consisted of one patient with indications of pressure gradient at mid-ventricle without apical aneurysm, Group B consisted of three patients with indications of pressure gradient and apical aneurysm, and Group C consisted of one patient with hour-glass appearance with apical aneurysm and decreased left ventricular systolic function without pressure gradient. The diagnosis was established during examination for sustained ventricular tachycardia (SVT, three patients), paroxysmal atrial fibrillation (one patient), and coronary artery disease (one patient). Cardiogenic embolization was observed in all cases which originated from atrial fibrillation (one case) and apical aneurysm (two cases). No embolic event occurred in any patient after warfarin therapy. SVT occurred in patients in Groups B and C. SVT refractory to beta-blocker and mexiletine was treated by amiodarone. Apical aneurysmectomy and cryoablation could prevent recurrent SVT with drug resistance. Four of the five patients with MVO had arrhythmia (atrial fibrillation, SVT) and three had cardiogenic embolization. MVO could be classified into three groups depending on the morphological characteristics and complications. Treatment of MVO should be based on these characteristics. (author)

  3. Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results from a National Population-Based Study.

    Science.gov (United States)

    Alexander, Peta M A; Nugent, Alan W; Daubeney, Piers E F; Lee, Katherine J; Sleeper, Lynn A; Schuster, Tibor; Turner, Christian; Davis, Andrew M; Semsarian, Chris; Colan, Steven D; Robertson, Terry; Ramsay, James; Justo, Robert; Sholler, Gary F; King, Ingrid; Weintraub, Robert G

    2018-02-28

    Background -Late survival and symptomatic status of children with hypertrophic cardiomyopathy (HCM) have not been well defined. We examined long-term outcomes for pediatric HCM. Methods -The National Australian Childhood Cardiomyopathy Study is a longitudinal population-based cohort study of children (0-10 years) diagnosed with cardiomyopathy between 1987 and 1996. The primary study end-point was time to death or cardiac transplantation. Results -There were 80 patients with HCM with median age at diagnosis of 0.48 (Inter-quartile range [IQR] 0.1, 2.5) years. Freedom from death/transplantation (95% confidence interval [CI]) was 86 (77-92)% one year after presentation, 80 (69-87)% at 10 years and 78 (67-86)% at 20 years. From multivariable analyses, risk factors for death/transplantation included symmetric left ventricular hypertrophy at the time of diagnosis (hazard ratio [HR] 4.20 95%CI 1.60, 11.05 p=0.004), Noonan syndrome (HR 2.88, 95%CI 1.02, 8.08, p=0.045), higher posterior wall thickness z-score (HR 1.45, 95%CI 1.22, 1.73, p<0.001) and lower fractional shortening z-score (HR 0.84, 95%CI 0.74, 0.95, p=0.005) during follow-up. Nineteen (23%) subjects underwent left ventricular myectomy. At median 15.7 years' follow-up, 27 (42%) of 63 survivors were treated with beta-blocker and 13 (21%) had an implantable cardioverter-defibrillator. Conclusions -The highest risk of death or transplantation for children with HCM is within one year post-diagnosis, with low attrition rates thereafter. Many subjects receive medical, surgical or device therapy.

  4. Successful anaesthetic management of a case of hypertrophic obstructive cardiomyopathy posted for elective caesarean section using epidural anaesthesia with 0.75% Ropivacaine

    Directory of Open Access Journals (Sweden)

    Anjali R Bhure

    2011-01-01

    Full Text Available Hypertrophic obstructive cardiomyopathy (HOCM is a complex cardiovascular disorder with autosomal dominant inheritance and an incidence of 0.1-0.5% in pregnant females. Anaesthetic management of a pregnant female with HOCM posted for elective caesarean section is a challenge, as even minor hemodynamic insults may lead to life-threatening complications. We report successful management of one such patient using epidural anaesthesia with 0.75% Ropivacaine.

  5. Myocardial Impairment Detected by Late Gadolinium Enhancement in Hypertrophic Cardiomyopathy: Comparison with 99mTc-MIBI/Tetrofosmin and 123I-BMIPP SPECT

    OpenAIRE

    Hashimura, Hiromi; Kiso, Keisuke; Yamada, Naoaki; Kono, Atsushi; Morita, Yoshiaki; Fukushima, Kazuto; Higashi, Masahiro; Noguchi Teruo; Ishibashi-Ueda, Hatsue; Naito, Hiroaki; Sugimura, Kazuro

    2013-01-01

    Purpose: Myocardial fibrosis is considered to be an important factor in myocardial dysfunction and sudden cardiac death in hypertrophic cardiomyopathy (HCM). The purpose of this study was to compare myocardial fibrosis detected by late gadolinium enhancement (LGE) on cardiac MRI with myocardial perfusion and fatty acid metabolism assessed by single photon emission computed tomography in HCM.Materials and Methods: We retrospectively evaluated 20 consecutive HCM patients (female, 7; mean age, 5...

  6. Effects of verapamil on left ventricular systolic and diastolic function in patients with hypertrophic cardiomyopathy: pressure-volume analysis with a nonimaging scintillation probe.

    Science.gov (United States)

    Bonow, R O; Ostrow, H G; Rosing, D R; Cannon, R O; Lipson, L C; Maron, B J; Kent, K M; Bacharach, S L; Green, M V

    1983-11-01

    To investigate the effects of verapamil on left ventricular systolic and diastolic function in patients with hypertrophic cardiomyopathy, we studied 14 patients at catheterization with a nonimaging scintillation probe before and after serial intravenous infusions of low-, medium-, and high-dose verapamil (total dose 0.17 to 0.72 mg/kg). Percent change in radionuclide stroke counts after verapamil correlated well with percent change in thermodilution stroke volume (r = .87), and changes in diastolic and systolic counts were used to assess relative changes in left ventricular volumes after verapamil. Verapamil produced dose-related increases in end-diastolic counts (19 +/- 9% increase; p less than .001), end-systolic counts (91 +/- 54% increase; p less than .001), and stroke counts (7 +/- 10% increase; p less than .02). This was associated with a decrease in ejection fraction (83 +/- 8% control, 73 +/- 10% verapamil; p less than .001) and, in the 10 patients with left ventricular outflow tract gradients, a reduction in gradient (62 +/- 27 mm Hg control, 32 +/- 35 mm Hg verapamil; p less than .01). The end-systolic pressure-volume relation was shifted downward and rightward in all patients, suggesting a negative inotropic effect. In 10 patients, left ventricular pressure-volume loops were constructed with simultaneous micromanometer pressure recordings and the radionuclide time-activity curve. In five patients, verapamil shifted the diastolic pressure-volume curve downward and rightward, demonstrating improved pressure-volume relations despite the negative inotropic effect, and also increased the peak rate of rapid diastolic filling. In the other five patients, the diastolic pressure-volume relation was unaltered by verapamil, and increased end-diastolic volumes occurred at higher end-diastolic pressures; in these patients, the peak rate of left ventricular diastolic filling was not changed by verapamil. The negative inotropic effects of intravenous verapamil are

  7. Anti-calreticulin antibodies and calreticulin in sera of patients diagnosed with dilated or hypertrophic cardiomyopathy

    Czech Academy of Sciences Publication Activity Database

    Sánchez, Daniel; Gregor, P.; Čurila, K.; Hoffmanová, I.; Hábová, Věra; Tučková, Ludmila; Tlaskalová-Hogenová, Helena

    2016-01-01

    Roč. 49, č. 8 (2016), s. 554-562 ISSN 0891-6934 R&D Projects: GA ČR GA13-14608S; GA TA ČR TA04010762 Institutional support: RVO:61388971 Keywords : Anti-calreticulin antibodies * calreticulin * dilated cardiomyopathy Subject RIV: EC - Immunology Impact factor: 2.629, year: 2016

  8. Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Timothy J Cashman

    Full Text Available Hypertrophic cardiomyopathy (HCM is a leading cause of sudden cardiac death that often goes undetected in the general population. HCM is also prevalent in patients with cardio-facio-cutaneous syndrome (CFCS, which is a genetic disorder characterized by aberrant signaling in the RAS/MAPK signaling cascade. Understanding the mechanisms of HCM development in such RASopathies may lead to novel therapeutic strategies, but relevant experimental models of the human condition are lacking. Therefore, the objective of this study was to develop the first 3D human engineered cardiac tissue (hECT model of HCM. The hECTs were created using human cardiomyocytes obtained by directed differentiation of induced pluripotent stem cells derived from a patient with CFCS due to an activating BRAF mutation. The mutant myocytes were directly conjugated at a 3:1 ratio with a stromal cell population to create a tissue of defined composition. Compared to healthy patient control hECTs, BRAF-hECTs displayed a hypertrophic phenotype by culture day 6, with significantly increased tissue size, twitch force, and atrial natriuretic peptide (ANP gene expression. Twitch characteristics reflected increased contraction and relaxation rates and shorter twitch duration in BRAF-hECTs, which also had a significantly higher maximum capture rate and lower excitation threshold during electrical pacing, consistent with a more arrhythmogenic substrate. By culture day 11, twitch force was no longer different between BRAF and wild-type hECTs, revealing a temporal aspect of disease modeling with tissue engineering. Principal component analysis identified diastolic force as a key factor that changed from day 6 to day 11, supported by a higher passive stiffness in day 11 BRAF-hECTs. In summary, human engineered cardiac tissues created from BRAF mutant cells recapitulated, for the first time, key aspects of the HCM phenotype, offering a new in vitro model for studying intrinsic mechanisms and

  9. Mitochondrial cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Ayman W. El-Hattab

    2016-07-01

    Full Text Available Mitochondria are found in all nucleated human cells and perform a variety of essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA while more than 99% of them are encoded by nuclear DNA (nDNA. Mutations in mtDNA or mitochondria-related nDNA genes result in mitochondrial dysfunction leading to insufficient energy production required to meet the needs of various organs, particularly those with high energy requirements, including the central nervous system, skeletal and cardiac muscles, kidneys, liver, and endocrine system. Because cardiac muscles are one of the high energy demanding tissues, cardiac involvement occurs in mitochondrial diseases with cardiomyopathies being one of the most frequent cardiac manifestations found in these disorders. Cardiomyopathy is estimated to occur in 20-40% of children with mitochondrial diseases. Mitochondrial cardiomyopathies can vary in severity from asymptomatic status to severe manifestations including heart failure, arrhythmias, and sudden cardiac death. Hypertrophic cardiomyopathy is the most common type; however, mitochondrial cardiomyopathies might also present as dilated, restrictive, left ventricular noncompaction, and histiocytoid cardiomyopathies. Cardiomyopathies are frequent manifestations of mitochondrial diseases associated with defects in electron transport chain (ETC complexes subunits and their assembly factors, mitochondrial tRNAs, rRNAs, ribosomal proteins, and translation factors, mtDNA maintenance, and coenzyme Q10 synthesis. Other mitochondrial diseases with cardiomyopathies include Barth syndrome, Sengers syndrome, TMEM70-related mitochondrial complex V deficiency, and Friedreich ataxia.

  10. A Pregnancy with Severe Hypertrophic Obstructive Cardiomyopathy after Surgery for an Implantable Cardioverter Defibrillator: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Takashi Mitsui

    2016-01-01

    Full Text Available Hypertrophic obstructive cardiomyopathy (HOCM is cardiac hypertrophy of ventricular myocardium with left ventricular outflow tract obstruction. We report a pregnancy with HOCM after defibrillator implantation surgery. The patient was a 33-year-old nulligravida and was categorized as New York Heart Association class II. Her brain natriuretic peptide (BNP level was 724.6 pg/dL at preconception. She received careful pregnancy management. However, because frequent uterine contractions were observed at 25 weeks and 6 days of pregnancy, she was hospitalized, and magnesium sulfate was started as a tocolytic agent. At 27 weeks and 5 days of pregnancy, she had respiratory discomfort and orthopnea with a sudden decrease in peripheral oxygen saturation. Cardiac ultrasonography showed a worsened condition of HOCM and her BNP level was 1418.0 pg/mL. We performed an emergent cesarean section and she delivered a boy weighing 999 g. The Apgar score was 8 and 9 points at 1 and 5 minutes, respectively. The mother’s heart failure quickly improved after birth and she was discharged at 10 days postoperatively. Fluctuations in circulatory dynamics during pregnancy may sometimes exacerbate heart disease. Therefore, the risks should be fully explained and careful assessment of cardiac function should be performed during pregnancy in patients with severe HOCM.

  11. A mutation in the β-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype

    International Nuclear Information System (INIS)

    Armel, Thomas Z.; Leinwand, Leslie A.

    2010-01-01

    Hypertrophic cardiomyopathy (HCM) is a common, autosomal dominant disorder primarily characterized by left ventricular hypertrophy and is the leading cause of sudden cardiac death in youth. HCM is caused by mutations in several sarcomeric proteins, with mutations in MYH7, encoding β-MyHC, being the most common. While many mutations in the globular head region of the protein have been reported and studied, analysis of HCM-causing mutations in the β-MyHC rod domain has not yet been reported. To address this question, we performed an array of biochemical and biophysical assays to determine how the HCM-causing E1356K mutation affects the structure, stability, and function of the β-MyHC rod. Surprisingly, the E1356K mutation appears to thermodynamically destabilize the protein, rather than alter the charge profile know to be essential for muscle filament assembly. This thermodynamic instability appears to be responsible for the decreased ability of the protein to form filaments and may be responsible for the HCM phenotype seen in patients.

  12. A mutation in the {beta}-myosin rod associated with hypertrophic cardiomyopathy has an unexpected molecular phenotype

    Energy Technology Data Exchange (ETDEWEB)

    Armel, Thomas Z. [Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309 (United States); Leinwand, Leslie A., E-mail: leslie.leinwand@colorado.edu [Department of Molecular, Cellular, and Developmental Biology, University of Colorado, Boulder, CO 80309 (United States)

    2010-01-01

    Hypertrophic cardiomyopathy (HCM) is a common, autosomal dominant disorder primarily characterized by left ventricular hypertrophy and is the leading cause of sudden cardiac death in youth. HCM is caused by mutations in several sarcomeric proteins, with mutations in MYH7, encoding {beta}-MyHC, being the most common. While many mutations in the globular head region of the protein have been reported and studied, analysis of HCM-causing mutations in the {beta}-MyHC rod domain has not yet been reported. To address this question, we performed an array of biochemical and biophysical assays to determine how the HCM-causing E1356K mutation affects the structure, stability, and function of the {beta}-MyHC rod. Surprisingly, the E1356K mutation appears to thermodynamically destabilize the protein, rather than alter the charge profile know to be essential for muscle filament assembly. This thermodynamic instability appears to be responsible for the decreased ability of the protein to form filaments and may be responsible for the HCM phenotype seen in patients.

  13. Myocardial glucose metabolism is different between hypertrophic cardiomyopathy and hypertensive heart disease associated with asymmetrical septal hypertrophy

    International Nuclear Information System (INIS)

    Shiba, Nobuyuki; Kagaya, Yutaka; Ishide, Nobumasa; Takeyama, Daiya; Yamane, Yuriko; Chida, Masanobu; Otani, Hiroki; Shirato, Kunio; Ido, Tatsuo.

    1997-01-01

    Myocardial glucose metabolism has been shown to be heterogeneous in patients with hypertrophic cardiomyopathy (HCM). We tested the hypothesis that myocardial glucose metabolism differs between patients with HCM and those with hypertensive heart disease (HHD) associated with asymmetrical septal hypertrophy. We studied 12 patients with HCM, 7 HHD patients associated with asymmetrical septal hypertrophy using 18 F 2-deoxyglucose (FDG) and positron emission tomography. We calculated % FDG fractional uptake in the interventricular septum and posterolateral wall. Heterogeneity of FDG uptake was evaluated by % interregional coefficient of variation of FDG fractional uptake in each wall segment. In both the interventricular septum and posterolateral wall, % FDG fractional uptake was not significantly different between the two groups. The % interregional coefficient of variation for both interventricular septum (10.6±1.6 vs. 4.1±0.5, p<0.01) and posterolateral wall (5.9±0.7 vs. 3.8±0.5, p< 0.05) was significantly larger in patients with HCM than in HHD patients associated with asymmetrical septal hypertrophy. Echocardiography demonstrated that the degree of asymmetrical septal hypertrophy was similar between the two groups. These results suggest that myocardial glucose metabolism may be more heterogeneous in patients with HCM compared to HHD patients associated with asymmetrical septal hypertrophy, although the left ventricular shape is similar. The difference in the heterogeneity might have resulted from differences in the pathogeneses of the two diseases. (author)

  14. Vascular Endothelial Growth Factor Is Associated with the Morphologic and Functional Parameters in Patients with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Radek Pudil

    2015-01-01

    Full Text Available Background. Hypertrophic cardiomyopathy (HCM is mostly autosomal dominant disease of the myocardium, which is characterized by myocardial hypertrophy. Vascular endothelial growth factor (VEGF is involved in myocyte function, growth, and survival. The aim of study was to analyze the clinical significance of VEGF in structural and functional changes in patient with HCM. Methods. In a group of 21 patients with nonobstructive HCM, we assessed serum VEGF and analyzed its association with morphological and functional parameters. Compared to healthy controls, serum VEGF was increased: 199 (IQR: 120.4–260.8 ng/L versus 20 (IQR: 14.8–37.7 ng/L, P<0.001. VEGF levels were associated with left atrium diameter (r=0.51, P=0.01, left ventricle ejection fraction (r=-0.56, P=0.01, fractional shortening (r=-0.54, P=0.02, left ventricular mass (r=0.61, P=0.03, LV mass index (r=0.46, P=0.04, vena cava inferior diameter (r=0.65, P=0.01, and peak gradient of tricuspid regurgitation (r=0.46, P=0.03. Conclusions. Increased VEGF level is associated with structural and functional parameters in patients with HCM and serves as a potential tool for diagnostic process of these patients.

  15. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XYidic(14)(p11)

    Energy Technology Data Exchange (ETDEWEB)

    Walter, C.A.; Moore, C.M.; Kaye, C.I. [Univ. of Texas Health Science Center, San Antonio, TX (United States)] [and others

    1996-11-11

    Uniparental disomy (UPD) has been shown to result in specific disorders either due to imprinting and/or homozygosity of mutant alleles. Here we present the findings in a child with paternal UPD14. Ultrasound evaluation was performed at 30 weeks of gestation because of abnormally large uterine size. Pertinent ultrasound findings included polyhydramnios, short limbs, abnormal position of hands, small thorax, and nonvisualization of the fetal stomach. Postnatally the infant was found to have a low birth weight, short birth length, contractures, short limbs, and a small thorax with upslanting ribs. Assisted ventilation and gastrostomy were required. At age 6 months, the infant required hospitalization for hypertrophic cardiomyopathy which responded to Atenolol{reg_sign}. Initial cytogenetic studies demonstrated an apparently balanced de novo Robertsonian translocation involving chromosomes 14 and a karyotype designation of 45,XY,t(14q14q). No indication of mosaicism for trisomy 14 was observed in metaphase spreads prepared from peripheral blood lymphocytes or skin-derived fibroblasts. C-band and fluorescence in situ hybridization results demonstrated that the chromosome was dicentric. DNA analyses showed paternal uniparental isodisomy for chromosome 14. Based on the cytogenetic and DNA results a final karyotype designation of 45,XY,idic(14)(p11) was assigned to this infant with paternal isodisomy of chromosome 14. 41 refs., 5 figs., 2 tabs.

  16. Exercise-induced ST-segment depression and myocardial ischemia in patients with hypertrophic cardiomyopathy. Myocardial scintigraphic study

    International Nuclear Information System (INIS)

    Miyai, Nobuyuki; Kawasaki, Tatsuya; Taniguchi, Takuya; Kamitani, Tadaaki; Kawasaki, Shingo; Sugihara, Hiroki

    2005-01-01

    Patients with hypertrophic cardiomyopathy (HCM) sometimes develop myocardial ischemia during exercise in the absence of coronary lesions. The relationship between myocardial ischemia and ST-segment depression was investigated during exercise testing in patients with HCM. Regional hypoperfusion and/or transient left ventricular cavity dilation, a parameter of subendocardial hypoperfusion, were assessed on exercise 99 m Tc-tetrofosmin myocardial scintigraphy in 42 patients with non-obstructive HCM. The scintigraphic results were further correlated with the ST-segment responses to exercise. Regional hypoperfusion or transient left ventricular cavity dilation were observed in 19 (45%) or 16 (38%) patients with HCM, respectively. The incidence of ST-segment depression ≥0.1 mV during exercise testing was similar in HCM patients with regional hypoperfusion, with transient left ventricular cavity dilation, and without hypoperfusion (42%, 38%, 38%, p=0.95). Furthermore, exercise-induced ST-segment depression ≥0.1 mV occurred similarly irrespective of symptoms, exercise tolerance, the degree or the site of hypertrophy, or the presence or absence of resting ST-segment depression. ST-segment depression during exercise testing was common in patients with HCM, but seems to be an unreliable marker of myocardial ischemia as assessed by exercise scintigraphy. (author)

  17. Use of Myocardial T1 Mapping at 3.0 T to Differentiate Anderson-Fabry Disease from Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Karur, Gauri R; Robison, Sean; Iwanochko, Robert M; Morel, Chantal F; Crean, Andrew M; Thavendiranathan, Paaladinesh; Nguyen, Elsie T; Mathur, Shobhit; Wasim, Syed; Hanneman, Kate

    2018-04-24

    Purpose To compare left ventricular (LV) and right ventricular (RV) 3.0-T cardiac magnetic resonance (MR) imaging T1 values in Anderson-Fabry disease (AFD) and hypertrophic cardiomyopathy (HCM) and evaluate the diagnostic value of native T1 values beyond age, sex, and conventional imaging features. Materials and Methods For this prospective study, 30 patients with gene-positive AFD (37% male; mean age ± standard deviation, 45.0 years ± 14.1) and 30 patients with HCM (57% male; mean age, 49.3 years ± 13.5) were prospectively recruited between June 2016 and September 2017 to undergo cardiac MR imaging T1 mapping with a modified Look-Locker inversion recovery (MOLLI) acquisition scheme at 3.0 T (repetition time msec/echo time msec, 280/1.12; section thickness, 8 mm). LV and RV T1 values were evaluated. Statistical analysis included independent samples t test, receiver operating characteristic curve analysis, multivariable logistic regression, and likelihood ratio test. Results Septal LV, global LV, and RV native T1 values were significantly lower in AFD compared with those in HCM (1161 msec ± 47 vs 1296 msec ± 55, respectively [P 3.0 T are significantly lower in patients with AFD compared with those with HCM and provide independent and incremental diagnostic value beyond age, sex, and conventional imaging features. © RSNA, 2018.

  18. Delayed-enhancement MRI of apical hypertrophic cardiomyopathy: assessment of the intramural distribution and comparison with clinical symptoms, ventricular arrhythmias, and cine MRI

    International Nuclear Information System (INIS)

    Amano, Yasuo; Fukushima, Yoshimitsu; Kumita, Shinichiro; Takayama, Morimasa; Kitamura, Mitsunobu

    2011-01-01

    Background: Hypertrophic cardiomyopathy (HCM) is reported to show patchy midwall myocardial hyper enhancement on delayed-enhancement magnetic resonance imaging (DE-MRI). The intramural distribution of myocardial hyper enhancement and its correlation with clinical symptoms, ventricular arrhythmias, and cardiac function have not been described for symptomatic apical HCM. Purpose: To evaluate the features and significance of myocardial hyper enhancement on DE-MRI in symptomatic apical HCM. Material and Methods: Thirteen patients with symptomatic apical HCM and their 65 apical segments were investigated. Myocardial hyper enhancement and regional and global functional parameters were determined with MRI. We investigated the intramural distribution and frequencies of this myocardial hyper enhancement and compared them with the patients' clinical symptoms, the presence of ventricular arrhythmias, and cine MRI. Results: Eight (61.5%) patients with symptomatic apical HCM displayed apical myocardial hyper enhancement, and 22 (33.8%) of the 65 apical segments examined showed myocardial hyper enhancement. Of the myocardial hyper enhancement observed, 81.8% showed a subendocardial pattern.The Hyperenhanced apical myocardium had a lower percentage of systolic myocardial thickening, and was associated with serious symptoms (e.g. syncope) and ventricular arrhythmias. Conclusion: Patients with symptomatic apical HCM showed myocardial hyper enhancement involving the subendocardial layer, which might be related to regional systolic dysfunction, serious clinical symptoms, and ventricular arrhythmias

  19. Enhanced washout of {sup 99m}Tc-tetrofosmin in hypertrophic cardiomyopathy: quantitative comparisons with regional {sup 123}I-BMIPP uptake and wall thickness determined by MRI

    Energy Technology Data Exchange (ETDEWEB)

    Thet-Thet-Lwin, Tohoru; Takeda, Jin; Wu, Yuko; Fumikura, Keiji; Iida, Satoru; Kawano, Iwao; Yamaguchi, Yuji; Itai [Institute of Clinical Medicine, University of Tsukuba, Tennodai 1-1-1, 305-8575, Tsukuba-shi, Ibaraki-ken (Japan)

    2003-07-01

    The diagnostic value of technetium-99m tetrofosmin (TF) washout in hypertrophic cardiomyopathy (HCM) was examined by investigating its relation to the metabolic abnormality depicted by iodine-123 {beta}-methyl-p-iodophenylpentadecanoic acid (BMIPP) uptake and the left ventricular (LV) myocardial wall thickness as measured by magnetic resonance imaging (MRI). TF washout was evaluated in 31 patients with HCM and 23 normal control subjects using 30-min (early) and 3-h (delayed) TF single-photon emission tomography images. The LV myocardial wall was divided into 19 segments and the percentage TF washout, regional BMIPP uptake and LV wall thickness were measured in each segment. Mean TF washout in the patients with HCM was significantly faster than that in normal control subjects (23.7{+-}5.7 vs 13.4{+-}4.1, P<0.0001). In the patients with HCM, TF washout showed an excellent correlation with MRI wall thickness (r=0.82, P<0.0001) and a good inverse correlation with regional BMIPP uptake (r=-0.72, P<0.0001). In addition, a good linear correlation was observed between TF uptake and MRI wall thickness in the 19 regional segments. In conclusion, the degree of TF washout corresponds well with the severity of myocardial wall thickness and the degree of metabolic abnormality in patients with HCM. These results suggest that enhanced TF washout might provide additional clinical information regarding metabolic alterations in HCM. (orig.)

  20. Application of 3D printing in the surgical planning of hypertrophic obstructive cardiomyopathy and physician-patient communication: a preliminary study.

    Science.gov (United States)

    Guo, Hong-Chang; Wang, Yang; Dai, Jiang; Ren, Chang-Wei; Li, Jin-Hua; Lai, Yong-Qiang

    2018-02-01

    The aim of this study was to evaluate the effect of 3-dimensional (3D) printing in treatment of hypertrophic obstructive cardiomyopathy (HOCM) and its roles in doctor-patient communication. 3D-printed models were constructed preoperatively and postoperatively in seven HOCM patients received surgical treatment. Based on multi-slice computed tomography (CT) images, regions of disorder were segmented using the Mimics 19.0 software (Materialise, Leuven, Belgium). After generating an STL-file (StereoLithography file) with patients' data, the 3D printer (Objet350 Connex3, Stratasys Ltd., USA) created a 3D model. The pre- and post-operative 3D-printed models were used to make the surgical plan preoperatively and evaluate the outcome postoperatively. Meanwhile, a questionnaire was designed for patients and their relatives to learn the effectiveness of the 3D-printed prototypes in the preoperative conversations. The heart anatomies were accurately printed with 3D technology. The 3D-printed prototypes were useful for preoperative evaluation, surgical planning, and practice. Preoperative and postoperative echocardiographic evaluation showed left ventricular outflow tract (LVOT) obstruction was adequately relieved (82.71±31.63 to 14.91±6.89 mmHg, P3D model in preoperative conversations and the communication score was 9.11±0.38 points. A 3D-printed model is a useful tool in individualized planning for myectomies and represent a useful tool for physician-patient communication.

  1. Enhanced washout of 99mTc-tetrofosmin in hypertrophic cardiomyopathy: quantitative comparisons with regional 123I-BMIPP uptake and wall thickness determined by MRI

    International Nuclear Information System (INIS)

    Thet-Thet-Lwin, Tohoru; Takeda, Jin; Wu, Yuko; Fumikura, Keiji; Iida, Satoru; Kawano, Iwao; Yamaguchi, Yuji; Itai

    2003-01-01

    The diagnostic value of technetium-99m tetrofosmin (TF) washout in hypertrophic cardiomyopathy (HCM) was examined by investigating its relation to the metabolic abnormality depicted by iodine-123 β-methyl-p-iodophenylpentadecanoic acid (BMIPP) uptake and the left ventricular (LV) myocardial wall thickness as measured by magnetic resonance imaging (MRI). TF washout was evaluated in 31 patients with HCM and 23 normal control subjects using 30-min (early) and 3-h (delayed) TF single-photon emission tomography images. The LV myocardial wall was divided into 19 segments and the percentage TF washout, regional BMIPP uptake and LV wall thickness were measured in each segment. Mean TF washout in the patients with HCM was significantly faster than that in normal control subjects (23.7±5.7 vs 13.4±4.1, P<0.0001). In the patients with HCM, TF washout showed an excellent correlation with MRI wall thickness (r=0.82, P<0.0001) and a good inverse correlation with regional BMIPP uptake (r=-0.72, P<0.0001). In addition, a good linear correlation was observed between TF uptake and MRI wall thickness in the 19 regional segments. In conclusion, the degree of TF washout corresponds well with the severity of myocardial wall thickness and the degree of metabolic abnormality in patients with HCM. These results suggest that enhanced TF washout might provide additional clinical information regarding metabolic alterations in HCM. (orig.)

  2. Enhanced washout of 99mTc-tetrofosmin in hypertrophic cardiomyopathy: quantitative comparisons with regional 123I-BMIPP uptake and wall thickness determined by MRI.

    Science.gov (United States)

    Thet-Thet-Lwin; Takeda, Tohoru; Wu, Jin; Fumikura, Yuko; Iida, Keiji; Kawano, Satoru; Yamaguchi, Iwao; Itai, Yuji

    2003-07-01

    The diagnostic value of technetium-99m tetrofosmin (TF) washout in hypertrophic cardiomyopathy (HCM) was examined by investigating its relation to the metabolic abnormality depicted by iodine-123 beta-methyl- p-iodophenylpentadecanoic acid (BMIPP) uptake and the left ventricular (LV) myocardial wall thickness as measured by magnetic resonance imaging (MRI). TF washout was evaluated in 31 patients with HCM and 23 normal control subjects using 30-min (early) and 3-h (delayed) TF single-photon emission tomography images. The LV myocardial wall was divided into 19 segments and the percentage TF washout, regional BMIPP uptake and LV wall thickness were measured in each segment. Mean TF washout in the patients with HCM was significantly faster than that in normal control subjects (23.7+/-5.7 vs 13.4+/-4.1, P<0.0001). In the patients with HCM, TF washout showed an excellent correlation with MRI wall thickness ( r=0.82, P<0.0001) and a good inverse correlation with regional BMIPP uptake ( r=-0.72, P<0.0001). In addition, a good linear correlation was observed between TF uptake and MRI wall thickness in the 19 regional segments. In conclusion, the degree of TF washout corresponds well with the severity of myocardial wall thickness and the degree of metabolic abnormality in patients with HCM. These results suggest that enhanced TF washout might provide additional clinical information regarding metabolic alterations in HCM.

  3. Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.

    Science.gov (United States)

    Yagasaki, Hideaki; Nakane, Takaya; Hasebe, Youhei; Watanabe, Atsushi; Kise, Hiroaki; Toda, Takako; Koizumi, Keiichi; Hoshiai, Minako; Sugita, Kanji

    2015-12-01

    Most cases of Noonan syndrome (NS) result from mutations in one of the RAS-MAPK signaling genes, including PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 (MAP2K1), and CBL. Cardiovascular diseases of varying severity, such as pulmonary stenosis and hypertrophic cardiomyopathy (HCM), are common in NS patients. RAF1 mutations are most frequent in NS with HCM, while PTPN11 mutations are also well known. Thr73Ile is a gain-of-function mutation of PTPN11, which has been highly associated with juvenile myelomonocytic leukemia and NS/myeloproliferative disease (MPD), but has not previously been reported in HCM. Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM. No other HCM-related mutations were detected in PTPN11, RAF1, KRAS, BRAF, and SHOC2. This patient provides additional information regarding the genotype-phenotype correlation for PTPN11 T73I mutation in NS. © 2015 Wiley Periodicals, Inc.

  4. Role of quantitative myocardial positron emission tomography for risk stratification in patients with hypertrophic cardiomyopathy: a 2016 reappraisal

    Energy Technology Data Exchange (ETDEWEB)

    Castagnoli, Helga; Passeri, Alessandro; Berti, Valentina; Sciagra, Roberto [University of Florence, Department of Experimental and Clinical Biomedical Sciences - Nuclear Medicine Unit, Firenze (Italy); Ferrantini, Cecilia; Coppini, Raffaele; Baldini, Katia; Cecchi, Franco; Olivotto, Iacopo [Careggi University Hospital, Referral Center for Myocardial Diseases and Genetic Diagnostics Unit, Florence (Italy)

    2016-12-15

    Myocardial blood flow <1.1 mL/min/g following dipyridamole (Dip-MBF) assessed by positron emission tomography (PET) was identified in 2003 as an important outcome predictor in hypertrophic cardiomyopathy (HCM), based on scans performed in the 90s. However, such extreme Dip-MBF impairment is rarely observed in contemporary cohorts. We, therefore, reassessed the Dip-MBF threshold defining high-risk HCM patients. Dip-MBF was measured using {sup 13}N-ammonia in 100 HCM consecutive patients, prospectively enrolled and followed for 4.0 ± 2.2 years. Outcome was assessed based on tertiles of Dip-MBF. The study end-point was a combination of cardiovascular death, progression to severe functional limitation, cardioembolic stroke, life-threatening ventricular arrhythmias. Global Dip-MBF was 1.95 ± 0.85, ranging from 0.7 to 5.9 mL/min/g. Dip-MBF tertile cut-off values were: 0.73 to 1.53 mL/min/g (lowest), 1.54 to 2.13 mL/min/g (middle), and 2.14 to 5.89 mL/min/g (highest). During follow-up, lowest tertile Dip-MBF was associated with sevenfold independent risk of unfavorable outcome compared to the other two tertiles. Dip-MBF 1.35 mL/min/g was identified as the best threshold for outcome prediction. Regional perfusion analysis showed that all cardiac deaths (n = 4) occurred in patients in the lowest tertile of lateral wall Dip-MBF (≤1.72 mL/min/g); septal Dip-MBF was not predictive. Dip-MBF confirms its role as potent predictor of outcome in HCM. However, the threshold for prediction in a contemporary cohort is higher than that reported in earlier studies. Dip-MBF impairment in the lateral wall, possibly reflecting diffuse disease extending to non-hypertrophic regions, is a sensitive predictor of mortality in HCM. (orig.)

  5. Role of quantitative myocardial positron emission tomography for risk stratification in patients with hypertrophic cardiomyopathy: a 2016 reappraisal

    International Nuclear Information System (INIS)

    Castagnoli, Helga; Passeri, Alessandro; Berti, Valentina; Sciagra, Roberto; Ferrantini, Cecilia; Coppini, Raffaele; Baldini, Katia; Cecchi, Franco; Olivotto, Iacopo

    2016-01-01

    Myocardial blood flow <1.1 mL/min/g following dipyridamole (Dip-MBF) assessed by positron emission tomography (PET) was identified in 2003 as an important outcome predictor in hypertrophic cardiomyopathy (HCM), based on scans performed in the 90s. However, such extreme Dip-MBF impairment is rarely observed in contemporary cohorts. We, therefore, reassessed the Dip-MBF threshold defining high-risk HCM patients. Dip-MBF was measured using "1"3N-ammonia in 100 HCM consecutive patients, prospectively enrolled and followed for 4.0 ± 2.2 years. Outcome was assessed based on tertiles of Dip-MBF. The study end-point was a combination of cardiovascular death, progression to severe functional limitation, cardioembolic stroke, life-threatening ventricular arrhythmias. Global Dip-MBF was 1.95 ± 0.85, ranging from 0.7 to 5.9 mL/min/g. Dip-MBF tertile cut-off values were: 0.73 to 1.53 mL/min/g (lowest), 1.54 to 2.13 mL/min/g (middle), and 2.14 to 5.89 mL/min/g (highest). During follow-up, lowest tertile Dip-MBF was associated with sevenfold independent risk of unfavorable outcome compared to the other two tertiles. Dip-MBF 1.35 mL/min/g was identified as the best threshold for outcome prediction. Regional perfusion analysis showed that all cardiac deaths (n = 4) occurred in patients in the lowest tertile of lateral wall Dip-MBF (≤1.72 mL/min/g); septal Dip-MBF was not predictive. Dip-MBF confirms its role as potent predictor of outcome in HCM. However, the threshold for prediction in a contemporary cohort is higher than that reported in earlier studies. Dip-MBF impairment in the lateral wall, possibly reflecting diffuse disease extending to non-hypertrophic regions, is a sensitive predictor of mortality in HCM. (orig.)

  6. Myocardial scarring on cardiovascular magnetic resonance in asymptomatic or minimally symptomatic patients with “pure” apical hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Kim Kyung-Hee

    2012-07-01

    Full Text Available Abstract Background Late gadolinium enhancement (LGE cardiovascular magnetic resonance (CMR enables state-of-the-art in vivo evaluations of myocardial fibrosis. Although LGE patterns have been well described in asymmetrical septal hypertrophy, conflicting results have been reported regarding the characteristics of LGE in apical hypertrophic cardiomyopathy (ApHCM. This study was undertaken to determine 1 the frequency and distribution of LGE and 2 its prognostic implication in ApHCM. Methods Forty patients with asymptomatic or minimally symptomatic pure ApHCM (age, 60.2 ± 10.4 years, 31 men were prospectively enrolled. LGE images were acquired using the inversion recovery segmented spoiled-gradient echo and phase-sensitive inversion recovery sequence, and analyzed using a 17-segment model. Summing the planimetered LGE areas in all short axis slices yielded the total volume of late enhancement, which was subsequently presented as a proportion of total LV myocardium (% LGE. Results Mean maximal apical wall thickness was 17.9±2.3mm, and mean left ventricular (LV ejection fraction was 67.7 ± 8.0%. All but one patient presented with electrocardiographic negative T wave inversion in anterolateral leads, with a mean maximum negative T wave of 7.2 ± 4.7mm. Nine patients (22.5% had giant negative T waves, defined as the amplitude of ≥10mm, in electrocardiogram. LGE was detected in 130 segments of 30 patients (75.0%, occupying 4.9 ± 5.5% of LV myocardium. LGE was mainly detected at the junction between left and right ventricles in 12 (30% and at the apex in 28 (70%, although LGE-positive areas were widely distributed, and not limited to the apex. Focal LGE at the non-hypertrophic LV segments was found in some ApHCM patients, even without LGE of hypertrophied apical segments. Over the 2-year follow-up, there was no one achieving the study end-point, defined as all-cause death, sudden cardiac death and hospitalization for heart failure

  7. Comparison of Valsalva Maneuver, Amyl Nitrite, and Exercise Echocardiography to Demonstrate Latent Left Ventricular Outflow Obstruction in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Ayoub, Chadi; Geske, Jeffrey B; Larsen, Carolyn M; Scott, Christopher G; Klarich, Kyle W; Pellikka, Patricia A

    2017-12-15

    Guidelines recommend exercise stress echocardiogram (ESE) for patients with hypertrophic cardiomyopathy (HC) if a 50 mm Hg gradient is not present at rest or provoked with Valsalva or amyl nitrite, to direct medical and surgical management. However, no study has directly compared all 3 methods. We sought to evaluate efficacy and degree of provocation of left ventricular outflow gradients by ESE, and compare with Valsalva and amyl nitrite. In patients with HC between 2002 and 2015, resting echocardiograms and ESEs within 1 year were retrospectively reviewed. Gradients elicited by each provocation method were compared. Rest and ESE were available in 97 patients (mean age 54 ± 18 years, 57% male); 78 underwent Valsalva maneuver and 41 amyl nitrite provocation. Median gradients (interquartile range) were 10 mm Hg (7,19) at rest, 16 mm Hg (9,34) with Valsalva, 23 mm Hg (13,49) with amyl nitrite, and 26 mm Hg (13,58) with ESE. ESE and amyl nitrite were able to provoke obstruction (≥30 mm Hg) and severe obstruction (≥50 mm Hg) more frequently than Valsalva. In patients with resting gradient <30 mm Hg (n = 83), provocation maneuvers demonstrated dynamic obstruction in 51%; in those with Valsalva gradient <30 mm Hg (n = 57), ESE or amyl nitrite provoked a gradient in 44%; and in those with amyl nitrite gradient <30 mm Hg (n = 20), ESE provoked a gradient in 29%. No demographic or baseline echocardiographic parameter predicted provocable obstruction. In conclusion, ESE is clinically useful; however, different provocation maneuvers may be effective in different patients with HC, and all maneuvers may be required to provoke dynamic obstruction in symptomatic patients. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Atrial Fibrillation in Hypertrophic Cardiomyopathy: Prevalence, Clinical Correlations, and Mortality in a Large High‐Risk Population

    Science.gov (United States)

    Siontis, Konstantinos C.; Geske, Jeffrey B.; Ong, Kevin; Nishimura, Rick A.; Ommen, Steve R.; Gersh, Bernard J.

    2014-01-01

    Background Atrial fibrillation (AF) is a common sequela of hypertrophic cardiomyopathy (HCM), but evidence on its prevalence, risk factors, and effect on mortality is sparse. We sought to evaluate the prevalence of AF, identify clinical and echocardiographic correlates, and assess its effect on mortality in a large high‐risk HCM population. Methods and Results We identified HCM patients who underwent evaluation at our institution from 1975 to 2012. AF was defined by known history (either chronic or paroxysmal), electrocardiogram, or Holter monitoring at index visit. We examined clinical and echocardiographic variables in association with AF. The effect of AF on overall and cause‐specific mortality was evaluated with multivariate Cox proportional hazards models. Of 3673 patients with HCM, 650 (18%) had AF. Patients with AF were older and more symptomatic (P<0.001). AF was less common among patients with obstructive HCM phenotype and was associated with larger left atria, higher E/e’ ratios, and worse cardiopulmonary exercise tolerance (all P values<0.001). During median (interquartile range) follow‐up of 4.1 (0.2 to 10) years, 1069 (29%) patients died. Patients with AF had worse survival compared to those without AF (P<0.001). In multivariate analysis adjusted for established risk factors of mortality in HCM, the hazard ratio (95% confidence interval) for the effect of AF on overall mortality was 1.48 (1.27 to 1.71). AF did not have an effect on sudden or nonsudden cardiac death. Conclusions In this large referral HCM population, approximately 1 in 5 patients had AF. AF was a strong predictor of mortality, even after adjustment for established risk factors. PMID:24965028

  9. High Incidence of De Novo and Subclinical Atrial Fibrillation in Patients With Hypertrophic Cardiomyopathy and Cardiac Rhythm Management Device.

    Science.gov (United States)

    Wilke, Iris; Witzel, Katrin; Münch, Julia; Pecha, Simon; Blankenberg, Stephan; Reichenspurner, Hermann; Willems, Stephan; Patten, Monica; Aydin, Ali

    2016-07-01

    Atrial fibrillation (AF) is an important prognostic parameter in patients with hypertrophic cardiomyopathy (HCM). Though cardiac rhythm management (CRM) devices (e.g., ICD, pacemaker or implantable loop recorder) can detect subclinical AF, data describing the incidence of AF are rare. We therefore investigated the incidence and clinical impact of de novo and subclinical AF detected by CRM devices in patients with HCM. In our retrospective single-center study, we included patients with HCM and need for CRM devices. The primary endpoint of the study was the incidence of clinical and subclinical de novo AF. During follow-up, patients were screened for adverse events like stroke, ventricular arrhythmia, heart failure, or death. From 192 HCM patients, 44 patients received a CRM device (38 ICDs, 5 pacemakers, 1 implantable loop recorder). In 14 of these patients (32%), AF had been documented before device implantation. Thirty (68%) patients were free from AF at the time of implantation. During a median follow-up of 595 days (interquartile range, 367-890 days), de novo AF was recorded in 16 of these 30 patients (53%). Fourteen (88%) of the 16 patients with de novo AF were free from any clinical symptoms, so these patients were classified to have subclinical AF. In logistic regression analysis, age was the only significant predictor for an increased risk of AF. AF is common in patients with HCM who need a CRM device. More than 50% of these patients develop de novo AF that was predominantly subclinical in our cohort. © 2016 Wiley Periodicals, Inc.

  10. Recognition of regional hypertrophy in hypertrophic cardiomyopathy using thallium-201 emission-computed tomography: comparison with two-dimensional echocardiography

    International Nuclear Information System (INIS)

    Suzuki, Y.; Kadota, K.; Nohara, R.

    1984-01-01

    The configuration of the hypertrophied myocardium was evaluated by thallium-201 emission-computed tomography and 2-dimensional (2-D) sector scan in 10 patients with obstructive hypertrophic cardiomyopathy (HC), 10 with nonobstructive HC with giant negative T waves and 10 with concentric left ventricular (LV) hypertrophy. Thallium-201 myocardial imaging was reconstructed into multiple 12-mm-thick slices in 3 planes. The thickness ratio of the ventricular septum and the LV posterior wall in the short-axis plane and the ratio of the ventricular septum and the apical wall in the long-axis plane were analyzed. In the patients with obstructive HC the ventricular septal wall thickness index was increased, and the ratio of septal to posterior wall thickness index (1.45 +/- 0.23) was greater than that in the patients with nonobstructive HC with giant negative T waves or in those with concentric LV hypertrophy (1.03 +/- 0.20 and 0.98 +/- 0.11, respectively; p less than 0.01 for each). In the patients with nonobstructive HC with giant negative T waves, increased apical wall thickness with apical cavity obliteration was characteristic, and the ratio of ventricular septal to apical wall thickness index (0.66 +/- 0.14) was less than that in the patients with obstructive HC or in those with concentric LV hypertrophy (1.46 +/- 0.38 and 1.04 +/- 0.09, respectively; p less than 0.001 for each). In contrast, technically satisfactory 2-D sector scanning (83%) demonstrated various configurations of the hypertrophied ventricularseptum, but could not detect apical hypertrophy in 4 of the 10 patients with nonobstructive HC with giant negative T waves whose LV cineangiograms demonstrated apical hypertrophy. Thus, thallium-201 emission-computed tomography is useful in evaluating the characteristics of LV hypertrophy and assists 2-D sector scan, especially in patients with apical hypertrophy in HC

  11. Focalized contractile impairment at hypertrophied myocardium proven in consideration of wall stress in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Yamazaki, Tadashi; Suzuki, Jun-ichi; Shimamoto, Ryoichi; Tsuji, Taeko; Ohmoto, Yuki; Toyo-oka, Teruhiko; Omata, Masao; Ohtomo, Kuni; Nagai, Ryozo

    2006-01-01

    In hypertrophic cardiomyopathy (HCM) a hyperkinetic state is sometimes observed in spite of impaired systolic function in the hypertrophied myocardium. The aim of the present study was to determine the mechanism of this paradox. Seventeen patients with HCM and 10 normal subjects underwent cine magnetic resonance (MR) imaging to measure percent systolic wall thickening and percent fractional shortening. The ratio of systolic radial wall stress of the LV at the hypertrophied myocardium over that at the nonhypertrophied myocardium was evaluated to describe the focal advantageous condition for wall thickening. The ratio was 0.66±0.36 at the start of contraction and 0.78±0.31 at early-systole, indicating consistently smaller radial wall stress at the hypertrophied myocardium. Although the condition for contraction was favorable (a ratio less than 1.00), percent systolic wall thickening at the hypertrophied myocardium (23.0±11.8%) was smaller than that at the nonhypertrophied myocardium (70.5±32.3%). Smaller end-diastolic dimension (HCM group; 45.2±4.2 mm, reference group; 48.9±4.1 mm, P=0.04) with a statistically identical value of systolic decrease in intraventricular dimension (HCM group; 19.7±3.9 mm, reference group; 18.9±3.2 mm, P=0.60) yielded high percent fractional shortening in patients with HCM (43.5±7.6%). Although contractile impairment was proven at the hypertrophied region with low radial wall stress in the HCM group, the smaller end-diastolic dimension in this group resulted in high percent fractional shortening. (author)

  12. A novel approach to select differential pathways associated with hypertrophic cardiomyopathy based on gene co‑expression analysis.

    Science.gov (United States)

    Chen, Xiao-Min; Feng, Ming-Jun; Shen, Cai-Jie; He, Bin; Du, Xian-Feng; Yu, Yi-Bo; Liu, Jing; Chu, Hui-Min

    2017-07-01

    The present study was designed to develop a novel method for identifying significant pathways associated with human hypertrophic cardiomyopathy (HCM), based on gene co‑expression analysis. The microarray dataset associated with HCM (E‑GEOD‑36961) was obtained from the European Molecular Biology Laboratory‑European Bioinformatics Institute database. Informative pathways were selected based on the Reactome pathway database and screening treatments. An empirical Bayes method was utilized to construct co‑expression networks for informative pathways, and a weight value was assigned to each pathway. Differential pathways were extracted based on weight threshold, which was calculated using a random model. In order to assess whether the co‑expression method was feasible, it was compared with traditional pathway enrichment analysis of differentially expressed genes, which were identified using the significance analysis of microarrays package. A total of 1,074 informative pathways were screened out for subsequent investigations and their weight values were also obtained. According to the threshold of weight value of 0.01057, 447 differential pathways, including folding of actin by chaperonin containing T‑complex protein 1 (CCT)/T‑complex protein 1 ring complex (TRiC), purine ribonucleoside monophosphate biosynthesis and ubiquinol biosynthesis, were obtained. Compared with traditional pathway enrichment analysis, the number of pathways obtained from the co‑expression approach was increased. The results of the present study demonstrated that this method may be useful to predict marker pathways for HCM. The pathways of folding of actin by CCT/TRiC and purine ribonucleoside monophosphate biosynthesis may provide evidence of the underlying molecular mechanisms of HCM, and offer novel therapeutic directions for HCM.

  13. Rare Variants in Genes Encoding MuRF1 and MuRF2 Are Modifiers of Hypertrophic Cardiomyopathy

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    Ming Su

    2014-05-01

    Full Text Available Modifier genes contribute to the diverse clinical manifestations of hypertrophic cardiomyopathy (HCM, but are still largely unknown. Muscle ring finger (MuRF proteins are a class of muscle-specific ubiquitin E3-ligases that appear to modulate cardiac mass and function by regulating the ubiquitin-proteasome system. In this study we screened all the three members of the MuRF family, MuRF1, MuRF2 and MuRF3, in 594 unrelated HCM patients and 307 healthy controls by targeted resequencing. Identified rare variants were confirmed by capillary Sanger sequencing. The prevalence of rare variants in both MuRF1 and MuRF2 in HCM patients was higher than that in control subjects (MuRF1 13/594 (2.2% vs. 1/307 (0.3%, p = 0.04; MuRF2 22/594 (3.7% vs. 2/307 (0.7%; p = 0.007. Patients with rare variants in MuRF1 or MuRF2 were younger (p = 0.04 and had greater maximum left ventricular wall thickness (p = 0.006 than those without such variants. Mutations in genes encoding sarcomere proteins were present in 19 (55.9% of the 34 HCM patients with rare variants in MuRF1 and MuRF2. These data strongly supported that rare variants in MuRF1 and MuRF2 are associated with higher penetrance and more severe clinical manifestations of HCM. The findings suggest that dysregulation of the ubiquitin-proteasome system contributes to the pathogenesis of HCM.

  14. Mechanical dispersion and global longitudinal strain by speckle tracking echocardiography: Predictors of appropriate implantable cardioverter defibrillator therapy in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Candan, Ozkan; Gecmen, Cetin; Bayam, Emrah; Guner, Ahmet; Celik, Mehmet; Doğan, Cem

    2017-06-01

    In this study, we investigated whether mechanical dispersion which reflects electrical abnormality and other echocardiographic and clinic parameters predict appropriate ICD shock in patients undergone ICD implantation for hypertrophic cardiomyopathy. Sixty-three patients who received ICD implantation for primary or secondary prevention were included in the study. Patients' clinical, electrocardiographic, 2D classic, and speckle tracking echocardiographic data were collected. Mechanical dispersion was defined as the standard deviation of time to peak negative strain in 18 left ventricular segments. Appropriate ICD therapy was defined as cardioversion or defibrillation due to ventricular tachycardia or fibrillation. Patients were divided into two groups as occurrence or the absence of appropriate ICD therapy. A total of 17 (26.9%) patients were observed to have an appropriate ICD therapy during follow-up periods. In patients who performed appropriate ICD therapy, a larger left atrial volume index, higher sudden cardiac death (SCD)-Risk Score, longer mechanical dispersion, and decreased global longitudinal peak strain (GLPS) were observed. In multivariate logistic regression analysis, including (GLPS, mechanical dispersion, LAVi, and SCD-Risk Score) was used to determine independent predictors of occurrence of appropriate ICD therapy during the follow-up. Mechanical dispersion, GLPS, and SCD-Risk Score were found to be independent predictors of occurrence of appropriate ICD therapy. Mechanical dispersion, GLPS, and SCD-Risk Score were found to be predictive for appropriate ICD therapy in patients receiving ICD implantation. Readily measurable mechanical dispersion and GLPS could be helpful to distinguish patients at high risk who could optimally benefit from ICD therapy. © 2017, Wiley Periodicals, Inc.

  15. Mechanisms of pro-arrhythmic abnormalities in ventricular repolarisation and anti-arrhythmic therapies in human hypertrophic cardiomyopathy.

    Science.gov (United States)

    Passini, Elisa; Mincholé, Ana; Coppini, Raffaele; Cerbai, Elisabetta; Rodriguez, Blanca; Severi, Stefano; Bueno-Orovio, Alfonso

    2016-07-01

    Hypertrophic cardiomyopathy (HCM) is a cause of sudden arrhythmic death, but the understanding of its pro-arrhythmic mechanisms and an effective pharmacological treatment are lacking. HCM electrophysiological remodelling includes both increased inward and reduced outward currents, but their role in promoting repolarisation abnormalities remains unknown. The goal of this study is to identify key ionic mechanisms driving repolarisation abnormalities in human HCM, and to evaluate anti-arrhythmic effects of single and multichannel inward current blocks. Experimental ionic current, action potential (AP) and Ca(2+)-transient (CaT) recordings were used to construct populations of human non-diseased and HCM AP models (n=9118), accounting for inter-subject variability. Simulations were conducted for several degrees of selective and combined inward current block. Simulated HCM cardiomyocytes exhibited prolonged AP and CaT, diastolic Ca(2+) overload and decreased CaT amplitude, in agreement with experiments. Repolarisation abnormalities in HCM models were consistently driven by L-type Ca(2+) current (ICaL) re-activation, and ICaL block was the most effective intervention to normalise repolarisation and diastolic Ca(2+), but compromised CaT amplitude. Late Na(+) current (INaL) block partially abolished repolarisation abnormalities, with small impact on CaT. Na(+)/Ca(2+) exchanger (INCX) block effectively restored repolarisation and CaT amplitude, but increased Ca(2+) overload. Multichannel block increased efficacy in normalising repolarisation, AP biomarkers and CaT amplitude compared to selective block. Experimentally-calibrated populations of human AP models identify ICaL re-activation as the key mechanism for repolarisation abnormalities in HCM, and combined INCX, INaL and ICaL block as effective anti-arrhythmic therapies also able to partially reverse the HCM electrophysiological phenotype. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  16. Novel insights on the relationship between T-tubular defects and contractile dysfunction in a mouse model of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Crocini, C; Ferrantini, C; Scardigli, M; Coppini, R; Mazzoni, L; Lazzeri, E; Pioner, J M; Scellini, B; Guo, A; Song, L S; Yan, P; Loew, L M; Tardiff, J; Tesi, C; Vanzi, F; Cerbai, E; Pavone, F S; Sacconi, L; Poggesi, C

    2016-02-01

    Abnormalities of cardiomyocyte Ca(2+) homeostasis and excitation-contraction (E-C) coupling are early events in the pathogenesis of hypertrophic cardiomyopathy (HCM) and concomitant determinants of the diastolic dysfunction and arrhythmias typical of the disease. T-tubule remodelling has been reported to occur in HCM but little is known about its role in the E-C coupling alterations of HCM. Here, the role of T-tubule remodelling in the electro-mechanical dysfunction associated to HCM is investigated in the Δ160E cTnT mouse model that expresses a clinically-relevant HCM mutation. Contractile function of intact ventricular trabeculae is assessed in Δ160E mice and wild-type siblings. As compared with wild-type, Δ160E trabeculae show prolonged kinetics of force development and relaxation, blunted force-frequency response with reduced active tension at high stimulation frequency, and increased occurrence of spontaneous contractions. Consistently, prolonged Ca(2+) transient in terms of rise and duration are also observed in Δ160E trabeculae and isolated cardiomyocytes. Confocal imaging in cells isolated from Δ160E mice reveals significant, though modest, remodelling of T-tubular architecture. A two-photon random access microscope is employed to dissect the spatio-temporal relationship between T-tubular electrical activity and local Ca(2+) release in isolated cardiomyocytes. In Δ160E cardiomyocytes, a significant number of T-tubules (>20%) fails to propagate action potentials, with consequent delay of local Ca(2+) release. At variance with wild-type, we also observe significantly increased variability of local Ca(2+) transient rise as well as higher Ca(2+)-spark frequency. Although T-tubule structural remodelling in Δ160E myocytes is modest, T-tubule functional defects determine non-homogeneous Ca(2+) release and delayed myofilament activation that significantly contribute to mechanical dysfunction. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All

  17. MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    James W McNamara

    Full Text Available The "super-relaxed state" (SRX of myosin represents a 'reserve' of motors in the heart. Myosin heads in the SRX are bound to the thick filament and have a very low ATPase rate. Changes in the SRX are likely to modulate cardiac contractility. We previously demonstrated that the SRX is significantly reduced in mouse cardiomyocytes lacking cardiac myosin binding protein-C (cMyBP-C. Here, we report the effect of mutations in the cMyBP-C gene (MYBPC3 using samples from human patients with hypertrophic cardiomyopathy (HCM. Left ventricular (LV samples from 11 HCM patients were obtained following myectomy surgery to relieve LV outflow tract obstruction. HCM samples were genotyped as either MYBPC3 mutation positive (MYBPC3mut or negative (HCMsmn and were compared to eight non-failing donor hearts. Compared to donors, only MYBPC3mut samples display a significantly diminished SRX, characterised by a decrease in both the number of myosin heads in the SRX and the lifetime of ATP turnover. These changes were not observed in HCMsmn samples. There was a positive correlation (p < 0.01 between the expression of cMyBP-C and the proportion of myosin heads in the SRX state, suggesting cMyBP-C modulates and maintains the SRX. Phosphorylation of the myosin regulatory light chain in MYBPC3mut samples was significantly decreased compared to the other groups, suggesting a potential mechanism to compensate for the diminished SRX. We conclude that by altering both contractility and sarcomeric energy requirements, a reduced SRX may be an important disease mechanism in patients with MYBPC3 mutations.

  18. Echocardiography and cardiac MRI in mutation-negative hypertrophic cardiomyopathy in an older patient: a case defining the need for ICD.

    Science.gov (United States)

    Rodriguez, Fatima; Degnan, Kathleen O; Seidman, Christine E; Mangion, Judy R

    2014-08-01

    We report the case of a 67-year-old man with hypertrophic cardiomyopathy who presented for a second opinion about implantable cardio-defibrillator (ICD) placement after a witnessed syncopal episode. Despite his older age, being mutation-negative, and having a maximal septal thickness of 2.2 cm on echocardiography, he demonstrated rapid progression of myocardial fibrosis on cardiac MRI, correlating to ventricular tachyarrhythmias and syncope. We review the role of echocardiography and cardiac MRI in optimizing medical care for such patients who may not otherwise meet criteria for an ICD placement or further interventions. © 2014, Wiley Periodicals, Inc.

  19. [Left atrial function and left atrial appendage flow velocity in hypertrophic cardiomyopathy: comparison of patients with and without paroxysmal atrial fibrillation].

    Science.gov (United States)

    Akasaka, K; Kawashima, E; Shiokoshi, T; Ishii, Y; Hasebe, N; Kikuchi, K

    1998-07-01

    The involvement of left atrial (LA) appendage flow velocity in reduced left atrial function was investigated in 24 patients with hypertrophic cardiomyopathy, who retained sinus rhythm at the examination. Patients were divided into 11 with a history of paroxysmal atrial fibrillation [PAf(+)] and 13 without such history [PAf(-)]. Transthoracic echocardiography was performed to evaluate LA fractional shortening (LA%FS) and mean velocity of circumferential LA fiber shortening (LAmVcf), as contractile functions of the left atrium at the phase of active atrial contraction. Transesophageal echocardiographic Doppler examination was performed in all patients to measure the LA appendage velocity. In all patients, significant positive correlations were observed between the LA appendage velocity and LA%FS (r = 0.50, p fibrillation were significantly lower than in those without (0.84 +/- 0.15 vs 1.28 +/- 0.37 circ/sec, 44 +/- 12 vs 65 +/- 20 cm/sec, both p fibrillation. These results indicate that there is a close relationship between LA appendage velocity and LA contractile function in patients with hypertrophic cardiomyopathy with paroxysmal atrial fibrilation, and these patients have potential risk of cerebral infarction.

  20. High prevalence of Arginine to Glutamine Substitution at 98, 141 and 162 positions in Troponin I (TNNI3 associated with hypertrophic cardiomyopathy among Indians

    Directory of Open Access Journals (Sweden)

    Rani Deepa

    2012-08-01

    Full Text Available Abstract Background Troponin I (TNNI3 is the inhibitory subunit of the thin filament regulatory complex Troponin, which confers calcium-sensitivity to striated muscle actomyosin ATPase activity. Mutations (2-7% in this gene had been reported in hypertrophic cardiomyopathy patients (HCM. However, the frequencies of mutations and associated clinical presentation have not been established in cardiomyopathy patients of Indian origin, hence we have undertaken this study. Methods We have sequenced all the exons, including the exon-intron boundaries of TNNI3 gene in 101 hypertrophic cardiomyopathy patients (HCM, along with 160 healthy controls, inhabited in the same geographical region of southern India. Results Our study revealed a total of 16 mutations. Interestingly, we have observed Arginine to Glutamine (R to Q mutation at 3 positions 98, 141 and 162, exclusively in HCM patients with family history of sudden cardiac death. The novel R98Q was observed in a severe hypertrophic obstructive cardiomyopathy patient (HOCM. The R141Q mutation was observed in two familial cases of severe asymmetric septal hypertrophy (ASH++. The R162Q mutation was observed in a ASH++ patient with mean septal thickness of 29 mm, and have also consists of allelic heterogeneity by means of having one more synonymous (E179E mutation at g.4797: G → A: in the same exon 7, which replaces a very frequent codon (GAG: 85% with a rare codon (GAA: 14%. Screening for R162Q mutation in all the available family members revealed its presence in 9 individuals, including 7 with allelic heterogeneity (R162Q and E179E of which 4 were severely affected. We also found 2 novel SNPs, (g.2653; G → A and g.4003 C → T exclusively in HCM, and in silico analysis of these SNPs have predicted to cause defect in recognition/binding sites for proteins responsible for proper splicing. Conclusion Our study has provided valuable information regarding the prevalence of TNNI3 mutations in

  1. Hypertrophic cardiomyopathy mutation R58Q in the myosin regulatory light chain perturbs thick filament-based regulation in cardiac muscle.

    Science.gov (United States)

    Kampourakis, Thomas; Ponnam, Saraswathi; Irving, Malcolm

    2018-04-01

    Hypertrophic cardiomyopathy (HCM) is frequently linked to mutations in the protein components of the myosin-containing thick filaments leading to contractile dysfunction and ultimately heart failure. However, the molecular structure-function relationships that underlie these pathological effects remain largely obscure. Here we chose an example mutation (R58Q) in the myosin regulatory light chain (RLC) that is associated with a severe HCM phenotype and combined the results from a wide range of in vitro and in situ structural and functional studies on isolated protein components, myofibrils and ventricular trabeculae to create an extensive map of structure-function relationships. The results can be understood in terms of a unifying hypothesis that illuminates both the effects of the mutation and physiological signaling pathways. R58Q promotes an OFF state of the thick filaments that reduces the number of myosin head domains that are available for actin interaction and ATP utilization. Moreover this mutation uncouples two aspects of length-dependent activation (LDA), the cellular basis of the Frank-Starling relation that couples cardiac output to venous return; R58Q reduces maximum calcium-activated force with no significant effect on myofilament calcium sensitivity. Finally, phosphorylation of R58Q-RLC to levels that may be relevant both physiologically and pathologically restores the regulatory state of the thick filament and the effect of sarcomere length on maximum calcium-activated force and thick filament structure, as well as increasing calcium sensitivity. We conclude that perturbation of thick filament-based regulation may be a common mechanism in the etiology of missense mutation-associated HCM, and that this signaling pathway offers a promising target for the development of novel therapeutics. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

  2. In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Jianxun Wang

    Full Text Available Noonan Syndrome with Multiple Lentigines (NSML, formerly LEOPARD syndrome is an autosomal dominant "RASopathy" disorder manifesting in congenital heart disease. Most cases of NSML are caused by catalytically inactivating mutations in the protein tyrosine phosphatase (PTP, non-receptor type 11 (PTPN11, encoding the SH2 domain-containing PTP-2 (SHP2 protein. We previously generated knock-in mice harboring the PTPN11 mutation Y279C, one of the most common NSML alleles; these now-termed SHP2Y279C/+ mice recapitulate the human disorder and develop hypertrophic cardiomyopathy (HCM by 12 weeks of age. Functionally, heart and/or cardiomyocyte lysates from SHP2Y279C/+ mice exhibit increased basal and agonist-induced AKT and mTOR activities. Here, we sought to determine whether we could reverse the hypertrophy in SHP2Y279C/+ mice using ARQ 092, an oral and selective allosteric AKT inhibitor currently in clinical trials for patients with PI3K/AKT-driven tumors or Proteus syndrome. We obtained echocardiographs of SHP2Y279C/+ and wildtype (SHP2+/+ littermates, either in the presence or absence of ARQ 092 at 12, 14, and 16 weeks of age. While SHP2Y279C/+ mice developed significant left ventricular hypertrophy by 12 weeks, as indicated by decreased chamber dimension and increased posterior wall thickness, treatment of SHP2Y279C/+ mice with ARQ 092 normalized the hypertrophy in as early as 2 weeks following treatment, with hearts comparable in size to those in wildtype (SHP2+/+ mice. In addition, we observed an increase in fractional shortening (FS% in SHP2Y279C/+ mice, an effect of increased compensatory hypertrophy, which was not apparent in SHP2Y279C/+ mice treated with ARQ 092, suggesting functional improvement of HCM upon treatment with the AKT inhibitor. Finally, we found that ARQ 092 specifically inhibited AKT activity, as well as its downstream effectors, PRAS and S6RP in NSML mice. Taken together, these data suggest ARQ 092 may be a promising novel

  3. Midregional pro-atrial natriuretic peptide: a novel marker of myocardial fibrosis in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Elmas, Elif; Doesch, Christina; Fluechter, Stephan; Freundt, Miriam; Weiss, Christel; Lang, Siegfried; Kälsch, Thorsten; Haghi, Dariush; Papassotiriou, Jana; Kunde, Jan; Schoenberg, Stefan O; Borggrefe, Martin; Papavassiliu, Theano

    2011-04-01

    We aimed to determine the diagnostic performance of biomarkers in predicting myocardial fibrosis assessed by late gadolinium enhancement (LGE) cardiovascular magnetic resonance imaging (CMR) in patients with hypertrophic cardiomyopathy (HCM). LGE CMR was performed in 40 consecutive patients with HCM. Left and right ventricular parameters, as well as the extent of LGE were determined and correlated to the plasma levels of midregional pro-atrial natriuretic peptide (MR-proANP), midregional pro-adrenomedullin (MR-proADM), carboxy-terminal pro-endothelin-1 (CT-proET-1), carboxy-terminal pro-vasopressin (CT-proAVP), matrix metalloproteinase-9 (MMP-9), tissue inhibitor of metalloproteinase-1 (TIMP-1) and interleukin-8 (IL-8). Myocardial fibrosis was assumed positive, if CMR indicated LGE. LGE was present in 26 of 40 patients with HCM (65%) with variable extent (mean: 14%, range: 1.3-42%). The extent of LGE was positively associated with MR-proANP (r = 0.4; P = 0.01). No correlations were found between LGE and MR-proADM (r = 0.1; P = 0.5), CT-proET-1 (r = 0.07; P = 0.66), CT-proAVP (r = 0.16; P = 0.3), MMP-9 (r = 0.01; P = 0.9), TIMP-1 (r = 0.02; P = 0.85), and IL-8 (r = 0.02; P = 0.89). After adjustment for confounding factors, MR-proANP was the only independent predictor associated with the presence of LGE (P = 0.007) in multivariate analysis. The area under the ROC curve (AUC) indicated good predictive performance (AUC = 0.882) of MR-proANP with respect to LGE. The odds ratio was 1.268 (95% confidence interval 1.066-1.508). The sensitivity of MR-proANP at a cut-off value of 207 pmol/L was 69%, the specificity 94%, the positive predictive value 90% and the negative predictive value 80%. The results imply that MR-proANP serves as a novel marker of myocardial fibrosis assessed by LGE CMR in patients with HCM.

  4. Cardiomyopathy

    Science.gov (United States)

    ... as a disorder that causes the buildup of abnormal proteins (amyloidosis), a disease that causes inflammation and can cause lumps of ... Cardiomyopathy can lead to abnormal heart rhythms. These abnormal heart rhythms ... other types of heart disease by living a heart-healthy lifestyle and making ...

  5. Cardiac troponin I degradation in serum of patients with hypertrophic obstructive cardiomyopathy undergoing percutaneous septal ablation

    DEFF Research Database (Denmark)

    Madsen, Lene H; Lund, Terje; Grieg, Zanina

    2009-01-01

    prior to initiation of PTSMA and up to 50 h following the procedure. Western blot analysis was performed with subsequent analysis of relative intensities of the bands as compared to the degradation of cTnI in STEMI patients from the ASSENT-2 troponin substudy. RESULTS: We demonstrate intact cTnI and 9...... degradation products [molecular weight (MW) 12.0-23.5 kDa]. The bands were comparable in MW to degradation fragments in STEMI. Their early rise in intensity, occurring within few minutes after the alcohol injection, emphasizes how susceptible troponin bands are to chemical/ischemic insults. Moreover, two...... additional bands were visible in the PTSMA population. CONCLUSION: This work describes the degradation products of troponin I in HOCM patients undergoing PTSMA. The detected bands appear fast and are similar to degradations following STEMI. This model contributes to our knowledge of the degradation patterns...

  6. The L‐type Ca2+ channel facilitates abnormal metabolic activity in the cTnI‐G203S mouse model of hypertrophic cardiomyopathy

    Science.gov (United States)

    Viola, Helena; Johnstone, Victoria; Cserne Szappanos, Henrietta; Richman, Tara; Tsoutsman, Tatiana; Filipovska, Aleksandra; Semsarian, Christopher

    2016-01-01

    Key points Genetic mutations in cardiac troponin I (cTnI) are associated with development of hypertrophic cardiomyopathy characterized by myocyte remodelling, disorganization of cytoskeletal proteins and altered energy metabolism.The L‐type Ca2+ channel is the main route for calcium influx and is crucial to cardiac excitation and contraction. The channel also regulates mitochondrial function in the heart by a functional communication between the channel and mitochondria via the cytoskeletal network.We find that L‐type Ca2+ channel kinetics are altered in cTnI‐G203S cardiac myocytes and that activation of the channel causes a significantly greater increase in mitochondrial membrane potential and metabolic activity in cTnI‐G203S cardiac myocytes.These responses occur as a result of impaired communication between the L‐type Ca2+ channel and cytoskeletal protein F‐actin, involving decreased movement of actin–myosin and block of the mitochondrial voltage‐dependent anion channel, resulting in a ‘hypermetabolic’ mitochondrial state.We propose that L‐type Ca2+ channel antagonists, such as diltiazem, might be effective in reducing the cardiomyopathy by normalizing mitochondrial metabolic activity. Abstract Genetic mutations in cardiac troponin I (cTnI) account for 5% of families with hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy is associated with disorganization of cytoskeletal proteins and altered energy metabolism. The L‐type Ca2+ channel (ICa‐L) plays an important role in regulating mitochondrial function. This involves a functional communication between the channel and mitochondria via the cytoskeletal network. We investigate the role of ICa‐L in regulating mitochondrial function in 25‐ to 30‐week‐old cardiomyopathic mice expressing the human disease‐causing mutation Gly203Ser in cTnI (cTnI‐G203S). The inactivation rate of ICa‐L is significantly faster in cTnI‐G203S myocytes [cTnI‐G203S: τ1 = 40.68 ± 3.22, n

  7. Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Montag, Judith; Syring, Mandy; Rose, Julia; Weber, Anna-Lena; Ernstberger, Pia; Mayer, Anne-Kathrin; Becker, Edgar; Keyser, Britta; Dos Remedios, Cristobal; Perrot, Andreas; van der Velden, Jolanda; Francino, Antonio; Navarro-Lopez, Francesco; Ho, Carolyn Yung; Brenner, Bernhard; Kraft, Theresia

    2017-08-01

    HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the mutant and the wildtype allele can be unequal, thus leading to fractions of mutant and wildtype mRNA and protein which deviate from 1:1. This so-called allelic imbalance was detected in whole tissue samples but also in individual cells. There is evidence that the severity of HCM not only depends on the functional effect of the mutation itself, but also on the fraction of mutant protein in the myocardial tissue. Allelic imbalance has been shown to occur in a broad range of genes. Therefore, we aimed to examine whether the MYH7-alleles are intrinsically expressed imbalanced or whether the allelic imbalance is solely associated with the disease. We compared the expression of MYH7-alleles in non-HCM donors and in HCM-patients with different MYH7-missense mutations. In the HCM-patients, we identified imbalanced as well as equal expression of both alleles. Also at the protein level, allelic imbalance was determined. Most interestingly, we also discovered allelic imbalance and balance in non-HCM donors. Our findings therefore strongly indicate that apart from mutation-specific mechanisms, also non-HCM associated allelic-mRNA expression regulation may account for the allelic imbalance of the MYH7 gene in HCM-patients. Since the relative amount of mutant mRNA and protein or the extent of allelic imbalance has been associated with the severity of HCM, individual analysis of the MYH7-allelic expression may provide valuable information for the prognosis of each patient.

  8. [Usefullness of Beta-blocker for Hemodynamic Changes Induced by Uterotonic Drug in a Patient with Hypertrophic Obstructive Cardiomyopathy Undergoing Elective Cesarean Section].

    Science.gov (United States)

    Tsukano, Yuri; Sugita, Michiko; Ikuta, Yoshihiro; Yamamoto, Tatsuo

    2015-06-01

    Combined spinal-epidural anesthesia (CSEA) was given to a 27-year-old woman with hypertrophic obstructive cardiomyopathy (HOCM) for a selective cesarean section. After the injection of uterotonic drug via uterine muscle and a vein after delivery, the patient developed dyspnea, tachycardia, ST-change on elecrocardiogram and hypotension. It is important in HOCM patients to control heart rate and left ventricular contractile force. We started to infuse beta-blocker (landiolol, 10 μg x kg(-1) x min(-1)) and improved these symptoms of the patient. This case demonstrates that CSEA is safe for HOCM patients and beta-blocker is effective to improve hemodynamic changes induced by uterotonic drug in these patients.

  9. Three-dimensional speckle tracking echocardiography allows detailed evaluation of left atrial function in hypertrophic cardiomyopathy--insights from the MAGYAR-Path Study.

    Science.gov (United States)

    Domsik, Péter; Kalapos, Anita; Chadaide, Számi; Sepp, Róbert; Hausinger, Péter; Forster, Tamás; Nemes, Attila

    2014-11-01

    Hypertrophic cardiomyopathy (HCM) represents a generalized myopathic process affecting both ventricular and atrial myocardium. Reduced left atrial (LA) function was demonstrated in HCM by different methods. Three-dimensional (3D) speckle tracking echocardiography (STE) has just been introduced for the evaluation of LA. This study was designed to compare 3DSTE-derived LA volumetric and strain parameters in HCM with healthy controls. The study comprised 23 consecutive HCM patients (mean age: 48.5 ± 15.1 years, 14 men). Their results were compared to 23 age- and gender-matched healthy controls. Complete two-dimensional Doppler echocardiography and 3DSTE have been performed in all cases. Calculated LA maximum (66.4 ± 20.4 mL vs. 36.0 ± 6.1 mL, P echocardiography allows detailed evaluation of LA (dys) function in HCM by volumetric and strain measurements. © 2014, Wiley Periodicals, Inc.

  10. Hypertensive heart disease versus hypertrophic cardiomyopathy: multi-parametric cardiovascular magnetic resonance discriminators when end-diastolic wall thickness ≥ 15 mm

    Energy Technology Data Exchange (ETDEWEB)

    Rodrigues, Jonathan C.L. [University Hospitals Bristol NHS Foundation Trust, NIHR Bristol Cardiovascular Biomedical Research Unit, Cardiac Magnetic Resonance Department, Bristol Heart Institute (United Kingdom); University of Bristol, School of Physiology, Pharmacology and Neuroscience, Faculty of Biomedical Sciences (United Kingdom); Rohan, Stephen [University of Bristol, Medical School, Faculty of Medicine and Dentistry (United Kingdom); Ghosh Dastidar, Amardeep; Harries, Iwan; Lawton, Christopher B. [University Hospitals Bristol NHS Foundation Trust, NIHR Bristol Cardiovascular Biomedical Research Unit, Cardiac Magnetic Resonance Department, Bristol Heart Institute (United Kingdom); Ratcliffe, Laura E.; Burchell, Amy E.; Nightingale, Angus K. [University Hospitals Bristol NHS Foundation Trust, CardioNomics Research Group, Clinical Research and Imaging Centre, Bristol Heart Institute (United Kingdom); Hart, Emma C.; Paton, Julian F.R. [University of Bristol, School of Physiology, Pharmacology and Neuroscience, Faculty of Biomedical Sciences (United Kingdom); University Hospitals Bristol NHS Foundation Trust, CardioNomics Research Group, Clinical Research and Imaging Centre, Bristol Heart Institute (United Kingdom); Hamilton, Mark C.K. [University Hospitals Bristol NHS Foundation Trust, Department of Radiology, Bristol Royal Infirmary (United Kingdom); Manghat, Nathan E. [University Hospitals Bristol NHS Foundation Trust, NIHR Bristol Cardiovascular Biomedical Research Unit, Cardiac Magnetic Resonance Department, Bristol Heart Institute (United Kingdom); University Hospitals Bristol NHS Foundation Trust, Department of Radiology, Bristol Royal Infirmary (United Kingdom)

    2017-03-15

    European guidelines state left ventricular (LV) end-diastolic wall thickness (EDWT) ≥15 mm suggests hypertrophic cardiomyopathy (HCM), but distinguishing from hypertensive heart disease (HHD) is challenging. We identify cardiovascular magnetic resonance (CMR) predictors of HHD over HCM when EDWT ≥15 mm. 2481 consecutive clinical CMRs between 2014 and 2015 were reviewed. 464 segments from 29 HCM subjects with EDWT ≥15 mm but without other cardiac abnormality, hypertension or renal impairment were analyzed. 432 segments from 27 HHD subjects with EDWT ≥15 mm but without concomitant cardiac pathology were analyzed. Magnitude and location of maximal EDWT, presence of late gadolinium enhancement (LGE), LV asymmetry (>1.5-fold opposing segment) and systolic anterior motion of the mitral valve (SAM) were measured. Multivariate logistic regression was performed. Significance was defined as p<0.05. HHD and HCM cohorts were age-/gender-matched. HHD had significantly increased indexed LV mass (110±27 g/m{sup 2} vs. 91±31 g/m{sup 2}, p=0.016) but no difference in site or magnitude of maximal EDWT. Mid-wall LGE was significantly more prevalent in HCM. Elevated indexed LVM, mid-wall LGE and absence of SAM were significant multivariate predictors of HHD, but LV asymmetry was not. Increased indexed LV mass, absence of mid-wall LGE and absence of SAM are better CMR discriminators of HHD from HCM than EDWT ≥15 mm. circle Hypertrophic cardiomyopathy (HCM) is often diagnosed with end-diastolic wall thickness ≥15 mm. (orig.)

  11. Hypertensive heart disease versus hypertrophic cardiomyopathy: multi-parametric cardiovascular magnetic resonance discriminators when end-diastolic wall thickness ≥ 15 mm

    International Nuclear Information System (INIS)

    Rodrigues, Jonathan C.L.; Rohan, Stephen; Ghosh Dastidar, Amardeep; Harries, Iwan; Lawton, Christopher B.; Ratcliffe, Laura E.; Burchell, Amy E.; Nightingale, Angus K.; Hart, Emma C.; Paton, Julian F.R.; Hamilton, Mark C.K.; Manghat, Nathan E.

    2017-01-01

    European guidelines state left ventricular (LV) end-diastolic wall thickness (EDWT) ≥15 mm suggests hypertrophic cardiomyopathy (HCM), but distinguishing from hypertensive heart disease (HHD) is challenging. We identify cardiovascular magnetic resonance (CMR) predictors of HHD over HCM when EDWT ≥15 mm. 2481 consecutive clinical CMRs between 2014 and 2015 were reviewed. 464 segments from 29 HCM subjects with EDWT ≥15 mm but without other cardiac abnormality, hypertension or renal impairment were analyzed. 432 segments from 27 HHD subjects with EDWT ≥15 mm but without concomitant cardiac pathology were analyzed. Magnitude and location of maximal EDWT, presence of late gadolinium enhancement (LGE), LV asymmetry (>1.5-fold opposing segment) and systolic anterior motion of the mitral valve (SAM) were measured. Multivariate logistic regression was performed. Significance was defined as p<0.05. HHD and HCM cohorts were age-/gender-matched. HHD had significantly increased indexed LV mass (110±27 g/m"2 vs. 91±31 g/m"2, p=0.016) but no difference in site or magnitude of maximal EDWT. Mid-wall LGE was significantly more prevalent in HCM. Elevated indexed LVM, mid-wall LGE and absence of SAM were significant multivariate predictors of HHD, but LV asymmetry was not. Increased indexed LV mass, absence of mid-wall LGE and absence of SAM are better CMR discriminators of HHD from HCM than EDWT ≥15 mm. circle Hypertrophic cardiomyopathy (HCM) is often diagnosed with end-diastolic wall thickness ≥15 mm. (orig.)

  12. Myocardial blood flow and left ventricular functional reserve in hypertrophic cardiomyopathy: a {sup 13}NH{sub 3} gated PET study

    Energy Technology Data Exchange (ETDEWEB)

    Sciagra, Roberto; Calabretta, Raffaella; Passeri, Alessandro; Castello, Angelo; Pupi, Alberto [University of Florence, Nuclear Medicine Unit, Department of Experimental and Clinical Biomedical Sciences ' ' Mario Serio' ' , Florence (Italy); Cipollini, Fabrizio [University of Florence, Department of Statistics, Florence (Italy); Cecchi, Franco; Olivotto, Iacopo [Careggi University Hospital, Referral Centre for Myocardial Diseases, Florence (Italy)

    2017-05-15

    Ischemia in hypertrophic cardiomyopathy (HCM) is caused by coronary microvascular dysfunction (CMD), which is detected by measuring myocardial blood flow (MBF) with PET. Whether CMD may be associated with ischemic left ventricular (LV) dysfunction is unclear. We therefore assessed LV ejection fraction (EF) reserve in HCM patients undergoing dipyridamole (Dip) PET. Resting and stress {sup 13}NH{sub 3} dynamic as well as gated PET were performed in 34 HCM patients. Segmental MBF and transmural perfusion gradient (TPG = subendocardial / subepicardial MBF) were assessed. LVEF reserve was considered abnormal if Dip LVEF decreased more than 5 units as compared to rest. Eighteen patients had preserved (group A) and 16 abnormal LVEF reserve (group B; range -7 to -32). Group B patients had greater wall thickness than group A, but resting volumes, LVEF, resting and Dip MBF, and myocardial flow reserve were similar. Group B had slightly higher summed stress score and summed difference score in visual analysis than group A, and a significantly higher summed stress wall motion score. In group B, resting TPG was slightly lower (1.31 ± 0.29 vs. 1.37 ± 0.34, p <0.05), and further decreased after Dip, whilst in group A it increased (B = 1.20 ± 0.39, p < 0.0001 vs. rest and vs. A = 1.40 ± 0.43). The number of segments per patient with TPG <1 was higher than in group A (p < 0.001) and was a significant predictor of impaired LVEF reserve (OR 1.86, p < 0.02), together with wall thickness (OR 1.3, p < 0.02). Abnormal LVEF response is common in HCM patients following Dip, and is related to abnormal TPG, suggesting that subendocardial ischemia might occur under Dip and cause transient LV dysfunction. Although in vivo this effect may be hindered by the adrenergic drive associated with effort, these findings may have relevance in understanding exercise limitation and heart failure symptoms in HCM. (orig.)

  13. Cardiomyopathy in neurological disorders.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. Double Chamber Left Ventricle Associated With Severe Form of the Hypertrophic Cardiomyopathy and High Left Intracavitary Pressure

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim; Maloku, Arlinda; Berisha, Majlinda

    2013-01-01

    Double-chambered left ventricle (DCLV) is a rare congenital anomaly, and only a few cases have been reported in the literature, in which a 2-chambered LV is separated by the interventricular septum or an abnormal muscle bundle.We report a case of a girl who was presented at tertiary level for cardiological examination where, during the routine examination systolic murmur was registered. After echocardiographical examination DCLV was confirmed. Anomaly was associated with idiopathic hypertroph...

  15. Dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Salvatore, M.; Cuocolo, A.

    1988-01-01

    Radionuclide techniques are easily obtainable, noninvasive examinations that provide useful information in the evaluation, diagnosis and management of patients with dilated cardiomyopathy. The gated blood pool scan allows the assessment of ventricular size, configuration, and wall and septal thickness. These data allow the functional class of the cardiomyopathy (congestive, restrictive or hypertrophic) to be defined. Often THallium-201 myocardial perfusion imaging adds further information and is particularly useful in distinguishing congestive cardiomyopathy from severe coronary artery disease and in depicting septal abnormalities in hipertrophic cardiomyopathy. Useful as these techniques are, they are not substitutes for conventional approaches to diagnosis. Careful history taking and physical examination, as well as scrutiny of the electrocardiogram, chest X-ray and echocardiogram should be standard practice for the evaluation of patients with suspected cardiomyopathy. Judicious use of noninvasive techniques may obviate the need for cardiac catheterization in many patients

  16. Pesquisa de marcadores para os genes da cadeia pesada da beta-miosina cardíaca e da proteína C de ligação à miosina em familiares de pacientes com cardiomiopatia hipertrófica Research of markers for the genes of the heavy chain of cardiac beta-myosin and myosin binding protein C in relatives of patients with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Adriana Paula Tirone

    2005-06-01

    Full Text Available OBJETIVO: Estudar os marcadores moleculares para os genes da cadeia pesada da beta-miosina cardíaca e da proteína-C de ligação à miosina em familiares de portadores de cardiomiopatia hipertrófica. MÉTODOS: Foram estudadas 12 famílias que realizaram anamnese, exame físico, eletrocardiograma, ecocardiograma e coleta de sangue para o estudo genético através da reação em cadeia da polimerasse. RESULTADOS: Dos 227 familiares 25% eram acometidos, sendo 51% do sexo masculino com idade média de 35±19 (2 a 95 anos. A análise genética mostrou ligação com o gene da b-miosina cardíaca em uma família e, em outra, ligação com o gene da proteína C de ligação à miosina. Em cinco famílias foram excluídas ligações com os dois genes; em duas, a ligação com o gene da proteína C de ligação à miosina, porém para o gene da b-miosina os resultados foram inconclusivos; em duas famílias os resultados foram inconclusivos para os dois genes e em uma foi excluída ligação para o gene da b-miosina mas ficou inconclusivo para o gene da proteína C de ligação à miosina. CONCLUSÃO: Em nosso meio, talvez predominem outros genes que não aqueles descritos na literatura, ou que existam outras diferenças genéticas relacionadas com a origem de nossa população e/ou fatores ambientais.OBJECTIVE: To study the molecular markers for the genes of the heavy chain of cardiac beta-myosin and the myosin binding protein C in relatives of carriers of hypertrophic cardiomyopathy. METHODS: Twelve families who had anamnesis, physical exam, electrocardiogram, echocardiogram and blood collection for the genetic study through the chain reaction of polymerase. RESULTS: From the 227 relatives, 25% were ill-taken, with 51% men, with an average age of 35±19 (2 to 95 years old. The genetic analysis showed a connection with the gene of the cardiac b-myosin in a family and, in another, a connection with the gene of the myosin-binding protein C. In five

  17. [Ventricular tachyarrhythmias in patients with cardiomyopathy

    DEFF Research Database (Denmark)

    Henningsen, K.; Christensen, A.H.; Svendsen, Jesper Hastrup

    2008-01-01

    by disease, gender, age, previous cardiac arrest and treatment with implantable cardioverter-defibrillator (ICD). RESULTS: 993 patients were screened and 128 patients with cardiomyopathy were identified, corresponding to 13% of the screened patients. 58 (45%) of the patients had dilated cardiomyopathy (DCM......), 57 (45%) patients had arrhythmogenic right ventricular cardiomyopathy (ARVC) and 13 (10%) had hypertrophic cardiomyopathy (HCM). The average age was 44 years for HCM, 41 years for ARVC and 58 years for DCM. The majority of the patients were male. ICD treatment was used in 95% of the patients...... with ARVC, 70% of the patients with HCM and 59% of the patients with DCM. Only 5 patients had previous cardiac arrest without reversible cause. CONCLUSION: The study shows that cardiomyopathies are relatively frequent causes of ventricular tachyarrhythmias in patients discharged from a specialised...

  18. Hemodynamic changes in systolic and diastolic function during isoproterenol challenge predicts symptomatic response to myectomy in hypertrophic cardiomyopathy with labile obstruction.

    Science.gov (United States)

    Prasad, Megha; Geske, Jeffrey B; Sorajja, Paul; Ommen, Steve R; Schaff, Hartzell V; Gersh, Bernard J; Nishimura, Rick A

    2016-11-15

    We aimed to assess the utility of changes in systolic and diastolic function by isoproterenol challenge in predicting symptom resolution post-myectomy in selected patients with hypertrophic cardiomyopathy (HCM) and labile obstruction. In a subset of symptomatic HCM patients without resting/provocable obstruction on noninvasive assessment, isoproterenol challenge during hemodynamic catheterization may elicit labile left ventricular outflow tract (LVOT) obstruction, and demonstrate the effect of obstruction on diastolic function. These changes may determine whether patients achieve complete symptom resolution post-myectomy. Between February 2003 and April 2009, 18 symptomatic HCM patients without LVOT obstruction on noninvasive testing underwent isoproterenol provocation and septal myectomy due to presence of provocable gradient and were followed for 4 (IQR 3-7) years. Thirteen (72.2%) had complete symptom resolution, while 5 (27.8%) had improved, but persistent symptoms. Those with provoked gradient >100 mm Hg or increase in left atrial pressure (LAP) with isoproterenol had symptom resolution. Symptomatic HCM patients without LVOT gradient on noninvasive testing may demonstrate labile obstruction with isoproterenol. With isoproterenol, patients with high LVOT gradient or increase in LAP concomitant with an increase in gradient achieved complete symptom resolution post-myectomy. Thus, improved diastolic filling as well as outflow gradient production in patients with HCM may predict symptom response to myectomy. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  19. Comparison of Long-Term Effect of Dual-Chamber Pacing and Alcohol Septal Ablation in Patients with Hypertrophic Obstructive Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Jan Krejci

    2013-01-01

    Full Text Available Introduction. Nonpharmacological treatment of patients with hypertrophic obstructive cardiomyopathy (HOCM comprises surgical myectomy (SME, alcohol septal ablation (ASA, and dual-chamber (DDD pacing. The aim of the study was to compare the long-term effect of DDD pacing and ASA in symptomatic HOCM patients. Patients and Methods. We evaluated retrospective data from three cardiocenters; there were 24 patients treated with DDD pacing included and 52 treated with ASA followed for 101 ± 49 and 87 ± 23 months, respectively. Results. In the group treated with DDD pacing, the left ventricle outflow tract gradient (LVOTG decreased from 82 ± 44 mmHg to 21 ± 21 mmHg, and NYHA class improved from 2.7 ± 0.5 to 2.1 ± 0.6 (both P<0.001. In the ASA-treated group, a decline in LVOTG from 73 ± 38 mmHg to 24 ± 26 mmHg and reduction in NYHA class from 2.8 ± 0.5 to 1.7 ± 0.8 were observed (both P<0.001. The LVOTG change was similar in both groups (P=0.264, and symptoms were more affected by ASA (P=0.001. Conclusion. ASA and DDD pacing were similarly effective in reducing LVOTG. The symptoms improvement was more expressed in patients treated with ASA.

  20. Percent wall thickness evaluated by Gd-DTPA enhanced cine MRI as an indicator of local parietal movement in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Hirano, Masaharu

    1998-01-01

    Hypertrophic cardiomyopathy (HCM) is a cardiac disease, the basic pathology of which consists of a decrease in left ventricular dilation compliance due to uneven hypertrophy of the left ventricular wall. Magnetic resonance imaging (MRI) is useful in monitoring uneven parietal hypertrophy and kinetics in HCM patients. The present study was undertaken in 47 HCM patients who showed asymmetrical septal hypertrophy to determine if percent thickness can be an indicator of left ventricular local movement using cine MRI. Longest and shortest axis images were acquired by the ECG synchronization method using a 1.5 T MR imager. Cardiac function was analyzed based on longest axis cine images, and telediastolic and telesystolic parietal thickness were measured based on shorter axis cine images at the papillary muscle level. Parietal movement index and percent thickness were used as indicators of local parietal movement. The correlation between these indicators and parietal thickness was evaluated. The percent thickness changed at an earlier stage of hypertrophy than the parietal movement index, thus it is thought to be useful in detecting left ventricular parietal movement disorders at an early stage of HCM. (author)

  1. Integrative analysis of cardiac function and metabolism in patients with idiopathic hypertrophic cardiomyopathy with H-1 cine MR imaging and P-31 MR spectroscopy

    International Nuclear Information System (INIS)

    Wagner, S.; Chew, W.M.; Semelka, R.; Tomei, E.; Caputo, G.; O'Sullivan, M.; Chatterjee, K.; Parmley, W.W.; Wolfe, C.L.; Higgins, C.B.

    1989-01-01

    The purpose of the study was to use MR imaging and P-31 spectroscopy for the functional and metabolic characterization of patients with hypertrophic cardiomyopathy (HCM). Nine patients with HCM underwent combined P-31 spectroscopy (one-dimensional chemical shift imaging) and MR imaging at 1.5 T. MR imaging localized the distribution of ventricular hypertrophy and cine MR imaging quantitated cardiac volumes, contractility, and left ventricular mass. The phosphodiester/phosphocreatine ratio (PDE/PCr) in six HCM patients was not different from normal, but in three patients it was significantly (P <.01) higher. This finding could not be attributed to contractible abnormalities, the distribution of hypertrophy, or the left ventricular mass. The abnormal PDE/PCr ratio was found only in patients with echocardiographic findings of resting left ventricular outflow obstruction but was not associated with severity or distribution of hypertrophy. The study shows the use of combined MR imaging and MR spectroscopy to characterize HCM and possibly to identify abnormal myocardial tissue

  2. Clinical usefulness of T1-201 myocardial scintigraphy and diastolic phase index by gated cardiac blood pool imaging in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Ohmine, Hiromi; Nishimura, Tsunehiko; Hayashida, Kohhei; Uehara, Toshiisa; Kozuka, Takahiro

    1984-01-01

    Tl-201 myocardial scintigraphy and gated cardiac blood pool imaging with Tc-99m were performed at rest in 24 hypertrophic cardiomyopathy (HCM) and 11 normal subjects. Based on visual analysis of Tl-201 myocardial scintigraphies, patients with HCM were subdivided into the following four groups; type I: non-obstructive, type II: obstructive, type III: asymmetric septal hypertrophy, type IV: apical hypertrophy. Characteristic myocardial hypertrophy of each group was also confirmed from the profile curves of circumferential analysis. First third filling fraction (1/3 FF) and mean first third filling rate (1/3 FRm) were obtained from gated cardiac blood pool imaging. As compaired with the normal subjects, 1/3 FF was not so sensitive for the detection of left ventricular hypertrophy. Mean+-S.D. of 1.3 FRm were 1.96+-0.56/sec (normal group), 1.30+-0.44/sec (typ e I), 1.18+-0.63/sec (type II), 1.17+-0.14/sec (type III), and 1.26+-0.03/sec (type IV). We considered that 1/3 FRm was a useful diastolic phase index in the diagnosis of HCM. (author)

  3. Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.

    Science.gov (United States)

    Guo, Xiying; Fan, Chaomei; Wang, Yanping; Wang, Miao; Cai, Chi; Yang, Yinjian; Zhao, Shihua; Duan, Fujian; Li, Yishi

    2017-03-01

    Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. The genetic anticipation of HCM and its associated etiology, sudden cardiac death (SCD), remains unclear. The aim of this study was to investigate the mechanism underlying the genetic anticipation of HCM and associated SCD.An HCM family including 5 generations and 74 members was studied. Two-dimensional echocardiography was performed to diagnose HCM. The age of onset of HCM was defined as the age at first diagnosis according to hospital records. The information on SCD was confirmed by verification by ≥2 family members and a review of hospital records. Whole-genome sequencing was performed on 4 HCM subjects and 1 healthy control in the family. The identified mutations were screened in all available family members and 216 unrelated healthy controls by Sanger sequencing.The median ages of onset of HCM were 63.5, 38.5, and 18.0 years in members of the second, third, and fourth generations of the family, respectively, and the differences between the generations were significant (P anticipation, with a decreased age of onset and increased severity in successive generations. Multiple gene mutations may contribute to genetic anticipation in HCM and thus may be of prognostic value.

  4. Fatty acid myocardial imaging using iodine-123-beta-methyl-para-iodophenyl pentadecanoic acid (BMIPP) in patients with hypertrophic cardiomyopathy (HCM)

    International Nuclear Information System (INIS)

    Wada, Toyofumi

    1993-01-01

    Myocardial ischemia has been shown to develop during exercise and to play an important role on the pathophysiology in patients with hypertrophic cardiomyopathy (HCM). However, it is known whether or not myocardial ischemia is present under basal condition. BMIPP myocardial imaging has been proven to be useful for the detection of regional abnormalities of fatty acid metabolism induced by myocardial ischemia. We therefore performed BMIPP and Tl myocardial imagings in 18 patients with HCM. Six patients with chest pain syndrome or idiopathic ventricular arrhythmia served as controls. BMIPP and Tl scintigraphies were performed at least five days apart for avoiding cross talk and after overnight fasting. Six control subjects presented BMIPP images similar to Tl images without appreciable discrepancy. Of 18 patients with HCM, 15 manifested segments of reduced BMIPP uptakes as compared with those of Tl images. These segments of reduced BMIPP in patients with HCM were mainly observed in segments of increased Tl uptake, and suggested that myocardial ischemia was present under basal condition. Since the reduction of BMIPP uptake were often localized to parts of segments of increased Tl uptake, small coronary disease seemed to be a mechanism responsible for myocardial ischemia developing during resting condition. Four patients with apical hypertrophy showed reduction of BMIPP uptake in the hypertrophied apical segments. The observation suggests that abnormal myocardial energy metabolism is in progress during resting state, although the condition is generally considered to be benign. (author)

  5. Validation of the 2014 European Society of Cardiology Sudden Cardiac Death Risk Prediction Model in Hypertrophic Cardiomyopathy in a Reference Center in South America.

    Science.gov (United States)

    Fernández, Adrián; Quiroga, Alejandro; Ochoa, Juan Pablo; Mysuta, Mauricio; Casabé, José Horacio; Biagetti, Marcelo; Guevara, Eduardo; Favaloro, Liliana E; Fava, Agostina M; Galizio, Néstor

    2016-07-01

    Sudden cardiac death (SCD) is a common cause of death in hypertrophic cardiomyopathy (HC). Our aim was to conduct an external and independent validation in South America of the 2014 European Society of Cardiology (ESC) SCD risk prediction model to identify patients requiring an implantable cardioverter defibrillator. This study included 502 consecutive patients with HC followed from March, 1993 to December, 2014. A combined end point of SCD or appropriate implantable cardioverter defibrillator therapy was assessed. For the quantitative estimation of individual 5-year SCD risk, we used the formula: 1 - 0.998(exp(Prognostic index)). Our database also included the abnormal blood pressure response to exercise as a risk marker. We analyzed the 3 categories of 5-year risk proposed by the ESC: low risk (LR) validated in our population and represents an improvement compared with previous approaches. A larger multicenter, independent and external validation of the model with long-term follow-up would be advisable. Copyright © 2016 Elsevier Inc. All rights reserved.

  6. Percent wall thickness evaluated by Gd-DTPA enhanced cine MRI as an indicator of local parietal movement in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Hirano, Masaharu [Tokyo Medical Coll. (Japan)

    1998-11-01

    Hypertrophic cardiomyopathy (HCM) is a cardiac disease, the basic pathology of which consists of a decrease in left ventricular dilation compliance due to uneven hypertrophy of the left ventricular wall. Magnetic resonance imaging (MRI) is useful in monitoring uneven parietal hypertrophy and kinetics in HCM patients. The present study was undertaken in 47 HCM patients who showed asymmetrical septal hypertrophy to determine if percent thickness can be an indicator of left ventricular local movement using cine MRI. Longest and shortest axis images were acquired by the ECG synchronization method using a 1.5 T MR imager. Cardiac function was analyzed based on longest axis cine images, and telediastolic and telesystolic parietal thickness were measured based on shorter axis cine images at the papillary muscle level. Parietal movement index and percent thickness were used as indicators of local parietal movement. The correlation between these indicators and parietal thickness was evaluated. The percent thickness changed at an earlier stage of hypertrophy than the parietal movement index, thus it is thought to be useful in detecting left ventricular parietal movement disorders at an early stage of HCM. (author)

  7. Accuracy of the ECG for differential diagnosis between hypertrophic cardiomyopathy and athlete's heart: comparison between the European Society of Cardiology (2010) and International (2017) criteria.

    Science.gov (United States)

    Zorzi, Alessandro; Calore, Chiara; Vio, Riccardo; Pelliccia, Antonio; Corrado, Domenico

    2018-05-01

    Interpretation of the athlete's ECG is based on differentiation between benign ECG changes and potentially pathological abnormalities. The aim of the study was to compare the 2010 European Society of Cardiology (ESC) and the 2017 International criteria for differential diagnosis between hypertrophic cardiomyopathy (HCM) and athlete's heart. The study populations included 200 patients with HCM and 563 athletes grouped as follows: 'group 1', including normal ECG and isolated increase of QRS voltages, which are considered non-pathologic according to ESC and International criteria; 'group 2', including left atrial enlargement or left axis deviation in isolation and Q-waves with an amplitude ≥4 mm but <25% of the ensuing R-wave and a duration <0.04 s which are considered pathologic according to the ESC but not according to the International criteria; and 'group 3', including abnormalities which are considered pathologic according to ESC and International criteria. Overall, the 2010 ESC criteria showed a sensitivity of 95.5% and a specificity of 86.9%. Considering group 2 ECG changes as normal according to the International criteria led to a statistically significant (p<0.001) increase of specificity to 95.9%, associated with a non-significant (p=0.47) reduction of sensitivity to 93%. Among patients with HCM, there was a significant increase of maximal left ventricular wall thickness from group 1 to 3 (p=0.02). The use of 2017 International criteria is associated with a substantial increase in specificity and a marginal decrease in sensitivity for differential diagnosis between HCM and athlete's heart. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  8. Regional left ventricular myocardial contraction abnormalities and asynchrony in patients with hypertrophic cardiomyopathy evaluated by magnetic resonance spatial modulation of magnetization myocardial tagging

    International Nuclear Information System (INIS)

    Mishiro, Yuichiro; Oki, Takashi; Iuchi, Arata

    1999-01-01

    Global left ventricular (LV) pump function is generally preserved in patients with hypertrophic cardiomyopathy (HCM). However, it is unknown whether regional myocardial contractility is impaired, especially in nonhypertrophied regions. The purpose of this study was to evaluate regional LV myocardial contraction in patients with HCM using magnetic resonance (MR) spatial modulation of magnetization (SPAMM) myocardial tagging. The study group comprised 20 patients with asymmetric septal hypertrophy (HCM group) and 16 age-matched normal patients (control group), and data were collected using transthoracic M-mode and 2-dimensional echocardiography, and MR SPAMM myocardial tagging. The systolic strain ratio, maximum systolic strain velocity, and time from end-diastole to maximum systolic strain (ΔT) in the anterior, ventricular septal, inferior and lateral regions for 2 LV short-axis sections at the levels of the chordae tendineae and papillary muscles were measured at 50-ms intervals by MR myocardial tagging. The end-diastolic anterior and ventricular septal wall thicknesses and LV mass index were significantly different between the HCM and control groups. The systolic strain ratio for all 4 walls, particularly the anterior and ventricular septal regions, was significantly lower in the HCM group. In the HCM group, the maximum systolic strain velocity was significantly lower and ΔT was significantly shorter for all 4 walls, particularly the anterior and ventricular septal regions. The standard deviation for the ΔT, calculated from the ΔT for the 8 regions of the 2 LV short-axis sections, was significantly greater in the HCM group. In conclusion, regional LV myocardial contraction is impaired in both hypertrophied and nonhypertrophied regions, and systolic LV wall asynchrony occurs in patients with HCM. (author)

  9. International External Validation Study of the 2014 European Society of Cardiology Guidelines on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (EVIDENCE-HCM).

    Science.gov (United States)

    O'Mahony, Constantinos; Jichi, Fatima; Ommen, Steve R; Christiaans, Imke; Arbustini, Eloisa; Garcia-Pavia, Pablo; Cecchi, Franco; Olivotto, Iacopo; Kitaoka, Hiroaki; Gotsman, Israel; Carr-White, Gerald; Mogensen, Jens; Antoniades, Loizos; Mohiddin, Saidi A; Maurer, Mathew S; Tang, Hak Chiaw; Geske, Jeffrey B; Siontis, Konstantinos C; Mahmoud, Karim D; Vermeer, Alexa; Wilde, Arthur; Favalli, Valentina; Guttmann, Oliver P; Gallego-Delgado, Maria; Dominguez, Fernando; Tanini, Ilaria; Kubo, Toru; Keren, Andre; Bueser, Teofila; Waters, Sarah; Issa, Issa F; Malcolmson, James; Burns, Tom; Sekhri, Neha; Hoeger, Christopher W; Omar, Rumana Z; Elliott, Perry M

    2018-03-06

    Identification of people with hypertrophic cardiomyopathy (HCM) who are at risk of sudden cardiac death (SCD) and require a prophylactic implantable cardioverter defibrillator is challenging. In 2014, the European Society of Cardiology proposed a new risk stratification method based on a risk prediction model (HCM Risk-SCD) that estimates the 5-year risk of SCD. The aim was to externally validate the 2014 European Society of Cardiology recommendations in a geographically diverse cohort of patients recruited from the United States, Europe, the Middle East, and Asia. This was an observational, retrospective, longitudinal cohort study. The cohort consisted of 3703 patients. Seventy three (2%) patients reached the SCD end point within 5 years of follow-up (5-year incidence, 2.4% [95% confidence interval {CI}, 1.9-3.0]). The validation study revealed a calibration slope of 1.02 (95% CI, 0.93-1.12), C-index of 0.70 (95% CI, 0.68-0.72), and D-statistic of 1.17 (95% CI, 1.05-1.29). In a complete case analysis (n= 2147; 44 SCD end points at 5 years), patients with a predicted 5-year risk of <4% (n=1524; 71%) had an observed 5-year SCD incidence of 1.4% (95% CI, 0.8-2.2); patients with a predicted risk of ≥6% (n=297; 14%) had an observed SCD incidence of 8.9% (95% CI, 5.96-13.1) at 5 years. For every 13 (297/23) implantable cardioverter defibrillator implantations in patients with an estimated 5-year SCD risk ≥6%, 1 patient can potentially be saved from SCD. This study confirms that the HCM Risk-SCD model provides accurate prognostic information that can be used to target implantable cardioverter defibrillator therapy in patients at the highest risk of SCD. © 2017 American Heart Association, Inc.

  10. Validation of the 2014 European Society of Cardiology guidelines risk prediction model for the primary prevention of sudden cardiac death in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Vriesendorp, Pieter A; Schinkel, Arend F L; Liebregts, Max; Theuns, Dominic A M J; van Cleemput, Johan; Ten Cate, Folkert J; Willems, Rik; Michels, Michelle

    2015-08-01

    The recently released 2014 European Society of Cardiology guidelines of hypertrophic cardiomyopathy (HCM) use a new clinical risk prediction model for sudden cardiac death (SCD), based on the HCM Risk-SCD study. Our study is the first external and independent validation of this new risk prediction model. The study population consisted of a consecutive cohort of 706 patients with HCM without prior SCD event, from 2 tertiary referral centers. The primary end point was a composite of SCD and appropriate implantable cardioverter-defibrillator therapy, identical to the HCM Risk-SCD end point. The 5-year SCD risk was calculated using the HCM Risk-SCD formula. Receiver operating characteristic curves and C-statistics were calculated for the 2014 European Society of Cardiology guidelines, and risk stratification methods of the 2003 American College of Cardiology/European Society of Cardiology guidelines and 2011 American College of Cardiology Foundation/American Heart Association guidelines. During follow-up of 7.7±5.3 years, SCD occurred in 42 (5.9%) of 706 patients (ages 49±16 years; 34% women). The C-statistic of the new model was 0.69 (95% CI, 0.57-0.82; P=0.008), which performed significantly better than the conventional risk factor models based on the 2003 guidelines (C-statistic of 0.55: 95% CI, 0.47-0.63; P=0.3), and 2011 guidelines (C-statistic of 0.60: 95% CI, 0.50-0.70; P=0.07). The HCM Risk-SCD model improves the risk stratification of patients with HCM for primary prevention of SCD, and calculating an individual risk estimate contributes to the clinical decision-making process. Improved risk stratification is important for the decision making before implantable cardioverter-defibrillator implantation for the primary prevention of SCD. © 2015 American Heart Association, Inc.

  11. Myocardial impairment detected by late gadolinium enhancement in hypertrophic cardiomyopathy: comparison with 99mTc-MIBI/tetrofosmin and 123I-BMIPP SPECT.

    Science.gov (United States)

    Hashimura, Hiromi; Kiso, Keisuke; Yamada, Naoaki; Kono, Atsushi; Morita, Yoshiaki; Fukushima, Kazuto; Higashi, Masahiro; Noguchi, Teruo; Ishibashi-Ueda, Hatsue; Naito, Hiroaki; Sugimura, Kazuro

    2013-06-17

    Myocardial fibrosis is considered to be an important factor in myocardial dysfunction and sudden cardiac death in hypertrophic cardiomyopathy (HCM). The purpose of this study was to compare myocardial fibrosis detected by late gadolinium enhancement (LGE) on cardiac MRI with myocardial perfusion and fatty acid metabolism assessed by single photon emission computed tomography in HCM. We retrospectively evaluated 20 consecutive HCM patients (female, 7; mean age, 53.4 years) who underwent LGE, technetium-99m methoxyisobutylisonitrile/tetrofosmin (99mTc-MIBI/tetrofosmin), and iodine-123 beta-methyl-iodophenylpentadecanoic acid (123I-BMIPP) imaging. We calculated the myocardium-to-lumen signal ratio (M/L) for LGE in 17 segments based on the American Heart Association statement. Scoring of 99mTc-MIBI/tetrofosmin (PI) and 123I-BMIPP (BM) was performed for each segment using a 5-point scale (0, normal; 4, highly decreased). Nineteen of 20 patients (95%) and 153 of 340 segments (45%) showed LGE. M/Ls were 0.42±0.16, 0.55±0.17, and 0.65±0.24 in PI0/BM0, PI0/BM1-4 and PI1-4/BM1-4, respectively. All M/Ls were significantly higher than that of a normal control (0.34±0.14) (pacid metabolism, and is more strongly associated with disorders of fatty acid metabolism than with perfusion abnormalities. M/L may be a useful indicator of disease severity.

  12. Vector flow mapping in obstructive hypertrophic cardiomyopathy to assess the relationship of early systolic left ventricular flow and the mitral valve.

    Science.gov (United States)

    Ro, Richard; Halpern, Dan; Sahn, David J; Homel, Peter; Arabadjian, Milla; Lopresto, Charles; Sherrid, Mark V

    2014-11-11

    The hydrodynamic cause of systolic anterior motion of the mitral valve (SAM) is unresolved. This study hypothesized that echocardiographic vector flow mapping, a new echocardiographic technique, would provide insights into the cause of early SAM in obstructive hypertrophic cardiomyopathy (HCM). We analyzed the spatial relationship of left ventricular (LV) flow and the mitral valve leaflets (MVL) on 3-chamber vector flow mapping frames, and performed mitral valve measurements on 2-dimensional frames in patients with obstructive and nonobstructive HCM and in normal patients. We compared 82 patients (22 obstructive HCM, 23 nonobstructive HCM, and 37 normal) by measuring 164 LV pre- and post-SAM velocity vector flow maps, 82 maximum isovolumic vortices, and 328 2-dimensional frames. We observed color flow and velocity vector flow posterior to the MVL impacting them in the early systolic frames of 95% of obstructive HCM, 22% of nonobstructive HCM, and 11% of normal patients (p 60° of local vector flow onto the posterior surface of the leaflets whether the flow was ejection (59%) or the early systolic isovolumic vortex (41%). Ricochet of vector flow, rebounding off the leaflet into the cul-de-sac, was noted in 82% of the obstructed HCM, 9% of nonobstructive HCM, and none (0%) of the control patients (p Flow velocities in the LV outflow tract on the pre-SAM frame 1 and 2 mm from the tip of the anterior leaflet were low: 39 and 43 cm/s, respectively. Early systolic flow impacts the posterior surfaces of protruding MVL initiating SAM in obstructive HCM. Copyright © 2014 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  13. Symptomatic ventricular tachyarrhythmia is associated with delayed gadolinium enhancement in cardiac magnetic resonance imaging and with elevated plasma brain natriuretic peptide level in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Oka, Katsumi; Tsujino, Takeshi; Nakao, Shinji; Lee-Kawabata, Masaaki; Ezumi, Akira; Masai, Miho; Ohyanagi, Mitsumasa; Masuyama, Tohru

    2008-01-01

    Delayed gadolinium enhancement (DGE) in cardiac magnetic resonance (CMR) imaging indicates the areas with myocardial fibrosis, which are suggested to be arrhythmogenic substrate in hypertrophic cardiomyopathy (HCM). Elevated brain natriuretic peptide (BNP) is associated with cardiovascular events in HCM. We investigated the grade of DGE in CMR and plasma BNP levels in HCM patients with or without symptomatic ventricular tachycardia (VT) or ventricular fibrillation (VF). We recruited 26 consecutive untreated HCM patients without any symptoms of heart failure. They were divided into 2 groups: patients with symptomatic VT/VF [VT/VF (+) group, n=6]; patients without symptomatic VT/VF [VT/VF (-) group, n=20]. CMR was performed to evaluate left ventricular geometry and the grade of DGE. Plasma BNP levels, left ventricular mass index, and the number of segments with positive DGE were greater in the VT/VF (+) group than in the VT/VF (-) group (698.1±387.6 vs. 226.9±256.8 pg/ml, p=0.006; 152.3±49.5 vs. 89.5±24.1 g/m 2 , p=0.003; 9.7±5.7 vs. 3.5±3.3, p=0.013). On logistic regression, adjusted odds ratio for symptomatic VT/VF was 214 for log BNP (95% confidence interval [CI] 1.2-37,043, p=0.04) and 1.54 for DGE score (95% CI 1.01-2.34, p=0.04). High plasma BNP levels and the enlarged area of DGE in CMR were associated with symptomatic ventricular tachyarrhythmia. These factors may be useful markers for detecting high-risk patients of sudden cardiac death in HCM. (author)

  14. Quantitative Differentiation of LV Myocardium with and without Layer-Specific Fibrosis Using MRI in Hypertrophic Cardiomyopathy and Layer-Specific Strain TTE Analysis.

    Science.gov (United States)

    Funabashi, Nobusada; Takaoka, Hiroyuki; Ozawa, Koya; Kamata, Tomoko; Uehara, Masae; Komuro, Issei; Kobayashi, Yoshio

    2018-05-30

    To achieve further risk stratification in hypertrophic cardiomyopathy (HCM) patients, we localized and quantified layer-specific LVM fibrosis on MRI in HCM patients using regional layer-specific peak longitudinal strain (PLS) and peak circumferential strain (PCS) in LV myocardium (LVM) on speckle tracking transthoracic echocardiography (TTE). A total of 18 HCM patients (14 males; 58 ± 17 years) underwent 1.5T-MRI and TTE. PLS and PCS in each layer of the LVM (endocardium, epicardium, and whole-layer myocardium) were calculated for 17 AHA-defined lesions. MRI assessment showed that fibrosis was classified as endocardial, epicardial, or whole-layer (= either or both of these). Regional PLS was smaller in fibrotic endocardial lesions than in non-fibrotic endocardial lesions (P = 0.004). To detect LV endocardial lesions with fibrosis, ROC curves of regional PLS revealed an area under the curve (AUC) of 0.609 and a best cut-off point of 13.5%, with sensitivity of 65.3% and specificity of 54.3%. Regional PLS was also smaller in fibrotic epicardial lesions than in non-fibrotic epicardial lesions (P layer myocardium analysis, PLS was smaller in fibrotic lesions than in non-fibrotic lesions (P layer LV lesions with fibrosis, ROC curves of regional PLS revealed an AUC of 0.674 and a best cut-off point of 12.5%, with sensitivity of 79.0% and specificity of 50.7%. There were no significant differences in PCS of LV myocardium (endocardium, epicardium, and whole-layer) between fibrotic and non-fibrotic lesions. Quantitative regional PLS but not PCS in LV endocardium, epicardium, and whole-layer myocardium provides useful non-invasive information for layer-specific localization of fibrosis in HCM patients.

  15. Hypertrophic cardiomyopathy-linked mutation in troponin T causes myofibrillar disarray and pro-arrhythmic action potential changes in human iPSC cardiomyocytes.

    Science.gov (United States)

    Wang, Lili; Kim, Kyungsoo; Parikh, Shan; Cadar, Adrian Gabriel; Bersell, Kevin R; He, Huan; Pinto, Jose R; Kryshtal, Dmytro O; Knollmann, Bjorn C

    2018-01-01

    Mutations in cardiac troponin T (TnT) are linked to increased risk of ventricular arrhythmia and sudden death despite causing little to no cardiac hypertrophy. Studies in mice suggest that the hypertrophic cardiomyopathy (HCM)-associated TnT-I79N mutation increases myofilament Ca sensitivity and is arrhythmogenic, but whether findings from mice translate to human cardiomyocyte electrophysiology is not known. To study the effects of the TnT-I79N mutation in human cardiomyocytes. Using CRISPR/Cas9, the TnT-I79N mutation was introduced into human induced pluripotent stem cells (hiPSCs). We then used the matrigel mattress method to generate single rod-shaped cardiomyocytes (CMs) and studied contractility, Ca handling and electrophysiology. Compared to isogenic control hiPSC-CMs, TnT-I79N hiPSC-CMs exhibited sarcomere disorganization, increased systolic function and impaired relaxation. The Ca-dependence of contractility was leftward shifted in mutation containing cardiomyocytes, demonstrating increased myofilament Ca sensitivity. In voltage-clamped hiPSC-CMs, TnT-I79N reduced intracellular Ca transients by enhancing cytosolic Ca buffering. These changes in Ca handling resulted in beat-to-beat instability and triangulation of the cardiac action potential, which are predictors of arrhythmia risk. The myofilament Ca sensitizer EMD57033 produced similar action potential triangulation in control hiPSC-CMs. The TnT-I79N hiPSC-CM model not only reproduces key cellular features of TnT-linked HCM such as myofilament disarray, hypercontractility and diastolic dysfunction, but also suggests that this TnT mutation causes pro-arrhythmic changes of the human ventricular action potential. Copyright © 2017 Elsevier Ltd. All rights reserved.

  16. The effect of maternal gestational diabetes and HbA1c on hypertrophic cardiomyopathy of infants

    Directory of Open Access Journals (Sweden)

    Hoda Rezaie

    2017-09-01

    Methods: This case-control study was performed on 60 neonates born in Afzalipour Hospital (Kerman University of Medical Sciences from May to November 2014 in two groups of eligible infants using the convenience sampling method. Information about the age, sex, weight, gestational age, maternal age, obstetric history, gestational diabetes through the checklist were collected. Then Doppler echocardiography, M- Mode, Doppler tissue was conducted on two groups. Echocardiographic criteria including ventricular septal thickness and blood HbA1c mothers in both groups were compared. To compare quantitative and qualitative variables between the two groups’ Independent samples t‐test and Chi-square test was used. A significant level of 0.05 was considered in all of the statistical samples and SPSS software, ver. 20 (IBM, Armonk, NY, USA was used to analyze the data. Results: In this study, the birth weight of infants and the age of mothers did not differ between two groups (Respectively P=0.56, P=0.08 However, HbA1c was significantly higher in the infants of mothers with impaired glucose tolerance test (GTT (P<0.001. In infants of mothers with impaired GTT, ventricular septal thickness was significantly higher than the healthy controls (P=0.03, Also there was a significant difference between two groups in tissue Doppler criteria (Ea (P=0.04, In other echocardiographic criteria, no significant differences were reported (The LA/AO, LVPWT, LVEF, LVEF, LVFS, LVFS, LVEDd, LVESd, Sa and Aa, All P-values were ≥ 0.05. Conclusion: Diabetes mellitus of mothers causes several complications in their infants. The prevalence of cardiomyopathy hypertrophy is higher in babies whose mothers have higher levels of HbA1c and a sign of poor control of blodd glucose level during pregnancy.

  17. MRI of the cardiomyopathies

    International Nuclear Information System (INIS)

    Di Cesare, Ernesto

    2001-01-01

    We examined the potentialities of Magnetic resonance imaging (MRI) in the evaluation of the main cardiomyopathies: hypertrophic, dilated, restrictive and arrhythmogenic right ventricular. The hypertrophic cardiomyopathy is generally adequately investigated by echocardiography, that well defines the myocardial thickening and the obstruction of the left ventricular output. However, by echocardiography we still have difficulties in the evaluation of the apex of the left ventricle and the right ventricle involvement. MRI provides a complete evaluation of the heart with a clear evidence also of the echocardiographic dark zones by means of a clear evidence of the apex of the right ventricle. The dilated form is also well investigated by MRI that provides a clear evaluation of the volumes, mass and ejection fraction by means of the 3D analysis including conditions of the ventricular remodelling. Moreover, this technique helps in the differential diagnosis of acute myocarditis. In the acute phase of myocarditis (first 2 weeks), in fact, the myocardium produces high signal intensity on the T2 weighted sequences due to the presence of oedema. The third form of cardiomyopathy is the restrictive one, characterised by reduced diastolic filling and diastolic volume, normality of the systolic function and parietal thickness, interstitial fibrosis and enlargement of both atria. The mean potentiality of MRI is related to the differential diagnosis with constrictive pericarditis. Only in the former, the pericardium appears irregularly thickened with areas exceeding 4 mm of pericardial thickness. Finally, the right ventricular arrhythmogenic cardiomyopathy represents the main indication to MRI evaluation. With this imaging modality we are can obtain a clear morpho-functional evaluation of the right ventricle and distinguish the intramyocardial adipose substitution characterised by areas of high signal in the myocardium

  18. The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.

    Science.gov (United States)

    Schramm, Christine; Fine, Deborah M; Edwards, Michelle A; Reeb, Ashley N; Krenz, Maike

    2012-01-01

    The identification of mutations in PTPN11 (encoding the protein tyrosine phosphatase Shp2) in families with congenital heart disease has facilitated mechanistic studies of various cardiovascular defects. However, the roles of normal and mutant Shp2 in the developing heart are still poorly understood. Furthermore, it remains unclear how Shp2 loss-of-function (LOF) mutations cause LEOPARD Syndrome (also termed Noonan Syndrome with multiple lentigines), which is characterized by congenital heart defects such as pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). In normal hearts, Shp2 controls cardiomyocyte size by regulating signaling through protein kinase B (Akt) and mammalian target of rapamycin (mTOR). We hypothesized that Shp2 LOF mutations dysregulate this pathway, resulting in HCM. For our studies, we chose the Shp2 mutation Q510E, a dominant-negative LOF mutation associated with severe early onset HCM. Newborn mice with cardiomyocyte-specific overexpression of Q510E-Shp2 starting before birth displayed increased cardiomyocyte sizes, heart-to-body weight ratios, interventricular septum thickness, and cardiomyocyte disarray. In 3-mo-old hearts, interstitial fibrosis was detected. Echocardiographically, ventricular walls were thickened and contractile function was depressed. In ventricular tissue samples, signaling through Akt/mTOR was hyperactivated, indicating that the presence of Q510E-Shp2 led to upregulation of this pathway. Importantly, rapamycin treatment started shortly after birth rescued the Q510E-Shp2-induced phenotype in vivo. If rapamycin was started at 6 wk of age, HCM was also ameliorated. We also generated a second mouse model in which cardiomyocyte-specific Q510E-Shp2 overexpression started after birth. In contrast to the first model, these mice did not develop HCM. In summary, our studies establish a role for mTOR signaling in HCM caused by Q510E-Shp2. Q510E-Shp2 overexpression in the cardiomyocyte population alone was sufficient to

  19. Quantitative comparison of 2D and 3D late gadolinium enhancement MR imaging in patients with Fabry disease and hypertrophic cardiomyopathy.

    Science.gov (United States)

    Morsbach, F; Gordic, S; Gruner, C; Niemann, M; Goetti, R; Gotschy, A; Kozerke, S; Alkadhi, H; Manka, R

    2016-08-15

    This study aims to determine whether the quantification of myocardial fibrosis in patients with Fabry disease (FD) and hypertrophic cardiomyopathy (HCM) using a late gadolinium enhancement (LGE) singlebreath-hold three-dimensional (3D) inversion recovery magnetic resonance (MR) imaging sequence is comparable with a clinically established two-dimensional (2D) multi-breath-hold sequence. In this retrospective, IRB-approved study, 40 consecutive patients (18 male; mean age 50±17years) with Fabry disease (n=18) and HCM (n=22) underwent MR imaging at 1.5T. Spatial resolution was the same for 3D and 2D images (field-of-view, 350×350mm(2); in-plane-resolution, 1.2×1.2mm(2); section-thickness, 8mm). Datasets were analyzed for subjective image quality; myocardial and fibrotic mass, and total fibrotic tissue percentage were quantified. There was no significant difference in subjective image quality between 3D and 2D acquisitions (P=0.1 and P=0.3) for either disease. In patients with Fabry disease there were no significant differences between 3D and 2D acquisitions for myocardial mass (P=0.55), fibrous tissue mass (P=0.89), and total fibrous percentage (P=0.67), with good agreement between acquisitions according to Bland-Altman analyses. In patients with HCM there were also no significant differences between acquisitions for myocardial mass (P=0.48), fibrous tissue mass (P=0.56), and total fibrous percentage (P=0.67), with good agreement according to Bland-Altman analyses. Acquisition time was significantly shorter for 3D (25±5s) as compared to the 2D sequence (349±62s, P<0.001). In patients with Fabry disease and HCM, 3D LGE imaging provides equivalent diagnostic information in regard to quantification of myocardial fibrosis as compared with a standard 2D sequence, but at superior acquisition speed. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  20. High Spatial Resolution Cardiovascular Magnetic Resonance at 7.0 Tesla in Patients with Hypertrophic Cardiomyopathy – First Experiences: Lesson Learned from 7.0 Tesla

    Science.gov (United States)

    Prothmann, Marcel; von Knobelsdorff-Brenkenhoff, Florian; Töpper, Agnieszka; Dieringer, Matthias A.; Shahid, Etham; Graessl, Andreas; Rieger, Jan; Lysiak, Darius; Thalhammer, C.; Huelnhagen, Till; Kellman, Peter; Niendorf, Thoralf; Schulz-Menger, Jeanette

    2016-01-01

    Background Cardiovascular Magnetic Resonance (CMR) provides valuable information in patients with hypertrophic cardiomyopathy (HCM) based on myocardial tissue differentiation and the detection of small morphological details. CMR at 7.0T improves spatial resolution versus today’s clinical protocols. This capability is as yet untapped in HCM patients. We aimed to examine the feasibility of CMR at 7.0T in HCM patients and to demonstrate its capability for the visualization of subtle morphological details. Methods We screened 131 patients with HCM. 13 patients (9 males, 56 ±31 years) and 13 healthy age- and gender-matched subjects (9 males, 55 ±31years) underwent CMR at 7.0T and 3.0T (Siemens, Erlangen, Germany). For the assessment of cardiac function and morphology, 2D CINE imaging was performed (voxel size at 7.0T: (1.4x1.4x2.5) mm3 and (1.4x1.4x4.0) mm3; at 3.0T: (1.8x1.8x6.0) mm3). Late gadolinium enhancement (LGE) was performed at 3.0T for detection of fibrosis. Results All scans were successful and evaluable. At 3.0T, quantification of the left ventricle (LV) showed similar results in short axis view vs. the biplane approach (LVEDV, LVESV, LVMASS, LVEF) (p = 0.286; p = 0.534; p = 0.155; p = 0.131). The LV-parameters obtained at 7.0T where in accordance with the 3.0T data (pLVEDV = 0.110; pLVESV = 0.091; pLVMASS = 0.131; pLVEF = 0.182). LGE was detectable in 12/13 (92%) of the HCM patients. High spatial resolution CINE imaging at 7.0T revealed hyperintense regions, identifying myocardial crypts in 7/13 (54%) of the HCM patients. All crypts were located in the LGE-positive regions. The crypts were not detectable at 3.0T using a clinical protocol. Conclusions CMR at 7.0T is feasible in patients with HCM. High spatial resolution gradient echo 2D CINE imaging at 7.0T allowed the detection of subtle morphological details in regions of extended hypertrophy and LGE. PMID:26863618

  1. Hypertrophic Scars: Are Vitamins and Inflammatory Biomarkers Related with the Pathophysiology of Wound Healing?

    Science.gov (United States)

    Correia-Sá, Inês; Serrão, Paula; Marques, Marisa; Vieira-Coelho, Maria A

    2017-12-01

    Hypertrophic scars are a consequence of wound healing. The objective of the present study is to evaluate vitamin D and inflammatory biomarker plasma levels during wound healing. A prospective study was performed in patients (n = 63) submitted to body contouring surgery. Blood samples were collected before (t 0 ) and 5 days after surgery (t 5 ). Blood cell count, protein inflammatory biomarkers, and circulating plasma levels of 25(OH)D, vitamin A and vitamin E were quantified. Six months after surgery, scars were evaluated and classified as normal or hypertrophic. At the end of the study, 73% of the patients developed a normal scar (control group, n = 46) and 27% of the patients presented hypertrophic scars (HT group, n = 17). The patients in the HT group presented higher eosinophil (0.145 × 10 9 /L vs. 0.104 × 10 9 /L, p = 0.028) and basophil count (0.031 × 10 9 /L vs. 0.22 × 10 9 /L, p = 0.049) and C-reactive protein levels (6.12 mg/L vs. 2.30 mg/L, p = 0.015) in t 0 than the patients in the control group. At t 5 , the patients in the HT group showed a decrease in neutrophil (3.144 × 10 9/L vs. 4.03 × 10 9 /L, p = 0.031) and an increase in basophil (0.024 × 10 9 /L vs. 0.015 × 10 9 /L, p = 0.005) and lymphocyte count (1.836 × 10 9 /L vs. 1.557 × 10 9 /L; p = 0.028). Before surgery, vitamin D plasma levels were found to be decreased by almost 50% (23.52 ng/mL vs. 15.46 ng/mL, p = 0.031) in the patients who developed hypertrophic scars. Thirty-one percent of the patients submitted to bariatric surgery had more hypertrophic scars, versus 24% of the patients with no previous bariatric surgery. There is a different systemic inflammatory profile response in the patients during the formation of hypertrophic scars. Vitamin D plasma levels are marked reduced in these patients. Considering the powerful anti-inflammatory effect of vitamin D, these findings could be related.

  2. MR imaging in cardiomyopathies

    International Nuclear Information System (INIS)

    Miller, S.; Riessen, R.

    2005-01-01

    According to the WHO classification, cardiomyopathies are a group of diseases which are associated with myocardial dysfunction and can be classified either as primary or secondary cardiomyopathies. Genetic disorders have been identified in certain primary cardiomyopathies, however often the etiology remains unknown. The term ''secondary cardiomyopathy'' is used to specify diseases with the clinical indications of a cardiomyopathy, but can be attributed to a certain pathophysiological mechanism such as exposure to toxic substances, metabolic syndromes or systemic diseases. Based on morphological and functional criteria, primary cardiomyopathies are divided into dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC) and restrictive cardiomyopathy (RCM). During the last two decades MR imaging has emerged to a well established diagnostic tool for the understanding and treatment of cardiomyopathies. Morphological and functional information can be achieved with a high level of accuracy and reproducibility. Tissue alteration of the myocardium can be detected assessing regional contrast enhancement, T1- and T2-signal intensities and chemical shift phenomena. This article describes characteristic aspects of MR imaging for the diagnosis of primary and secondary cardiomyopathies. (orig.)

  3. Mismatched regional myocardial uptake between [sup 123]I-BMIPP and [sup 201]Tl SPECT; Comparison between hypertrophic myocardium and dilated myocardium

    Energy Technology Data Exchange (ETDEWEB)

    Otsuka, Makoto; Ichiya, Yuichi; Kuwabara, Yasuo; Sasaki, Masayuki; Fukumura, Toshimitsu; Masuda, Kouji; Ejima, Junichi; Tsuda, Yasuo (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine)

    1992-07-01

    The distribution of a new myocardial fatty acid metabolic agent [sup 123]I-BMIPP was compared in 6 each patients with hypertrophic myocardium (4 cases of hypertensive heart disease and 2 of hypertrophic cardiomyopathy) and dilated myocardium (4 of dilated type of valvular heart disease and 2 of dilated cardiomyopathy) with that of [sup 201]Tl. Mismatched regional myocardial uptake between [sup 123]I-BMIPP and [sup 201]Tl SPECT was observed in all of the hypertrophic myocardium, however no but one in the dilated myocardium. Relative increase or decrease in regional BMIPP from the images of 20 min and to those of 4 h was observed in 3 cases of the hypertrophic myocardium. FDG-PET was performed in 2 cases of the hypertrophic myocardium. The distribution of FDG was different from neither those of BMIPP nor Tl in a hypertrophic cardiomyopathy case with the reserved distribution of BMIPP and Tl. Although more investigations are necessary, we concluded that [sup 123]I-BMIPP is a promising radiopharmaceutical for evaluating myocardial fatty acid metabolism in hypertrophic myocardium. (author).

  4. [Predicting value of 2014 European guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy].

    Science.gov (United States)

    Li, W X; Liu, L W; Wang, J; Zuo, L; Yang, F; Kang, N; Lei, C H

    2017-12-24

    Objective: To evaluate the predicting value of the 2014 European Society of Cardiology (ESC) guidelines risk prediction model for sudden cardiac death (HCM Risk-SCD) in Chinese patients with hypertrophic cardiomyopathy (HCM), and to explore the predictors of adverse cardiovascular events in Chinese HCM patients. Methods: The study population consisted of a consecutive 207 HCM patients admitted in our center from October 2014 to October 2016. All patients were followed up to March 2017. The 5-year SCD probability of each patient was estimated using HCM Risk-SCD model based on electrocardiogram, echocardiography and cardiac magnetic resonance (CMR) examination results. The primary, second, and composite endpoints were recorded. The primary endpoint included SCD and appropriate ICD therapy, identical to the HCM Risk-SCD endpoint. The second endpoint included acute myocardial infarction, hospitalization for heart failure, thrombus embolism and end-stage HCM. The composite endpoint was either the primary or the second endpoint. Patients were divided into the 3 categories according to 5-year SCD probability assessed by HCM Risk-SCD model: low risk grouprisk group ≥4% torisk group≥6%. Results: (1) Prevalence of endpoints: All 207 HCM patients completed the follow-up (350 (230, 547) days). During follow-up, 8 (3.86%) patients reached the primary endpoints (3 cases of SCD, 3 cases of survival after defibrillation, and 2 cases of appropriate ICD discharge); 21 (10.14%) patients reached the second endpoints (1 case of acute myocardial infarction, 16 cases of heart failure hospitalization, 2 cases of thromboembolism, and 2 cases of end-stage HCM). (2) Predicting value of HCM Risk-SCD model: Patients with primary endpoints had higher prevalence of syncope and intermediate-high risk of 5-year SCD, as compared to those without primary endpoints (both Pvalue of HCM Risk-SCD model: The low risk group included 122 patients (59%), the intermediate risk group 42 (20%), and the

  5. Cardiomyopathies in Noonan syndrome and the other RASopathies

    Science.gov (United States)

    Gelb, Bruce D.; Roberts, Amy E.; Tartaglia, Marco

    2015-01-01

    Noonan syndrome and related disorders (Noonan syndrome with multiple lentigines, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with loose anagen hair, and other related traits) are autosomal dominant traits. Mutations causing these disorders alter proteins relevant for signaling through RAS. Thus, these traits are now collectively called the RASopathies. While the RASopathies have pleiomorphic features, this review will focus on the hypertrophic cardiomyopathy observed in varying percentages of all of these traits. In addition, inherited abnormalities in one pathway gene, RAF1, cause pediatric-onset dilated cardiomyopathy. The pathogeneses for the RASopathy-associated cardiomyopathies are being elucidated, principally using animal models, leading to genotype-specific insights into how signal transduction is perturbed. Based on those findings, small molecule therapies seem possible for RASopathy-associated cardiomyopathies. PMID:26380542

  6. A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies

    DEFF Research Database (Denmark)

    Mogensen, Jens; Hey, Thomas; Lambrecht, Sascha

    2015-01-01

    BACKGROUND: Genetic investigations have established that mutations in proteins of the contractile unit of the myocardium, known as the sarcomere, may be associated with hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). It has become clinical...... to be the most frequent disease gene in RCM. CONCLUSIONS: To further explore if there is a genotype-phenotype relation, long-term follow-up studies are needed. It is essential to investigate the natural history of the condition among affected individuals and to provide clinical follow-up on disease development...

  7. Metabolic imaging of patients with cardiomyopathy

    International Nuclear Information System (INIS)

    Geltman, E.M.

    1991-01-01

    The cardiomyopathies comprise a diverse group of illnesses that can be characterized functionally by several techniques. However, the delineation of derangements of regional perfusion and metabolism have been accomplished only relatively recently with positron emission tomography (PET). Regional myocardial accumulation and clearance of 11C-palmitate, the primary myocardial substrate under most conditions, demonstrate marked spatial heterogeneity when studied under fasting conditions or with glucose loading. PET with 11C-palmitate permits the noninvasive differentiation of patients with nonischemic from ischemic dilated cardiomyopathy, since patients with ischemic cardiomyopathy demonstrate large zones of intensely depressed accumulation of 11C-palmitate, probably reflecting prior infarction. Patients with hypertrophic cardiomyopathy and Duchenne's muscular dystrophy demonstrate relatively unique patterns of myocardial abnormalities of perfusion and metabolism. The availability of new tracers and techniques for the evaluation of myocardial metabolism (11C-acetate), perfusion (H2(15)O), and autonomic tone (11-C-hydroxyephedrine) should facilitate further understanding of the pathogenesis of the cardiomyopathies

  8. Prediction of the estimated 5-year risk of sudden cardiac death and syncope or non-sustained ventricular tachycardia in patients with hypertrophic cardiomyopathy using late gadolinium enhancement and extracellular volume CMR

    Energy Technology Data Exchange (ETDEWEB)

    Avanesov, Maxim; Weinrich, Julius; Well, Lennart; Tahir, Enver; Adam, Gerhard; Lund, Gunnar [University Hospital Hamburg Eppendorf, Department of Diagnostic and Interventional Radiology, Hamburg (Germany); Muench, Julia; Patten, Monica [University Heart Center Hamburg, Department of General and Interventional Cardiology, Hamburg (Germany); DZHK (German Center for Cardiovascular Research), Partner Site Hamburg/Kiel/Luebeck, Hamburg (Germany); Saering, Dennis [University of Applied Sciences, Information Technology and Image Processing, Wedel (Germany); Stehning, Christian [Philips Research, Hamburg (Germany); Bohnen, Sebastian; Radunski, Ulf K.; Muellerleile, Kai [University Heart Center Hamburg, Department of General and Interventional Cardiology, Hamburg (Germany)

    2017-12-15

    To evaluate the ability of late gadolinium enhancement (LGE) and mapping cardiac magnetic resonance (CMR) including native T1 and global extracellular volume (ECV) to identify hypertrophic cardiomyopathy (HCM) patients at risk for sudden cardiac death (SCD) and to predict syncope or non-sustained ventricular tachycardia (VT). A 1.5-T CMR was performed in 73 HCM patients and 16 controls. LGE size was quantified using the 3SD, 5SD and full width at half maximum (FWHM) method. T1 and ECV maps were generated by a 3(3)5 modified Look-Locker inversion recovery sequence. Receiver-operating curve analysis evaluated the best parameter to identify patients with increased SCD risk ≥4% and patients with syncope or non-sustained VT. Global ECV was the best predictor of SCD risk with an area under the curve (AUC) of 0.83. LGE size was significantly inferior to global ECV with an AUC of 0.68, 0.70 and 0.70 (all P < 0.05) for 3SD-, 5SD- and FWHM-LGE, respectively. Combined use of the SCD risk score and global ECV significantly improved the diagnostic accuracy to identify HCM patients with syncope or non-sustained VT. Combined use of the SCD risk score and global ECV has the potential to improve HCM patient selection, benefiting most implantable cardioverter defibrillators. (orig.)

  9. Prediction of the estimated 5-year risk of sudden cardiac death and syncope or non-sustained ventricular tachycardia in patients with hypertrophic cardiomyopathy using late gadolinium enhancement and extracellular volume CMR

    International Nuclear Information System (INIS)

    Avanesov, Maxim; Weinrich, Julius; Well, Lennart; Tahir, Enver; Adam, Gerhard; Lund, Gunnar; Muench, Julia; Patten, Monica; Saering, Dennis; Stehning, Christian; Bohnen, Sebastian; Radunski, Ulf K.; Muellerleile, Kai

    2017-01-01

    To evaluate the ability of late gadolinium enhancement (LGE) and mapping cardiac magnetic resonance (CMR) including native T1 and global extracellular volume (ECV) to identify hypertrophic cardiomyopathy (HCM) patients at risk for sudden cardiac death (SCD) and to predict syncope or non-sustained ventricular tachycardia (VT). A 1.5-T CMR was performed in 73 HCM patients and 16 controls. LGE size was quantified using the 3SD, 5SD and full width at half maximum (FWHM) method. T1 and ECV maps were generated by a 3(3)5 modified Look-Locker inversion recovery sequence. Receiver-operating curve analysis evaluated the best parameter to identify patients with increased SCD risk ≥4% and patients with syncope or non-sustained VT. Global ECV was the best predictor of SCD risk with an area under the curve (AUC) of 0.83. LGE size was significantly inferior to global ECV with an AUC of 0.68, 0.70 and 0.70 (all P < 0.05) for 3SD-, 5SD- and FWHM-LGE, respectively. Combined use of the SCD risk score and global ECV significantly improved the diagnostic accuracy to identify HCM patients with syncope or non-sustained VT. Combined use of the SCD risk score and global ECV has the potential to improve HCM patient selection, benefiting most implantable cardioverter defibrillators. (orig.)

  10. Fatty old hearts: role of cardiac lipotoxicity in age-related cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Konstantinos Drosatos

    2016-08-01

    Full Text Available Age-related cardiomyopathy accounts for a significant part of heart failure cases. Imbalance of the energetic equilibrium of the heart along with mitochondrial dysfunction and impaired β-adrenergic receptor signaling contributes in the aggravation of cardiac function in the elderly. In this review article, studies that correlate cardiac aging with lipotoxicity are summarized. The involvement of inhibition of peroxisome proliferator-activated receptor-α, β-adrenergic receptor desensitization, and mitochondrial dysfunction as underlying mechanisms for the lipid-driven age-related cardiomyopathy are presented with the aim to indicate potential therapeutic targets for cardiac aging.

  11. Multivariate-Analysis of Phytoplankton and Related Environmental-Factors, in a Shallow Hypertrophic Lake

    NARCIS (Netherlands)

    Romo, S.; Van Tongeren, O.F.R.

    1995-01-01

    Data on some relevant environmental variables and phytoplankton species composition, collected from the hypertrophic shallow lake Albufera of Valencia (Spain) during 1980-88, were examined using Redundancy Analysis (RDA). The hydrological cycle of the lake is manipulated for rice cultivation in the

  12. Smooth muscle LDL receptor-related protein-1 deletion induces aortic insufficiency and promotes vascular cardiomyopathy in mice.

    Directory of Open Access Journals (Sweden)

    Joshua E Basford

    Full Text Available Valvular disease is common in patients with Marfan syndrome and can lead to cardiomyopathy. However, some patients develop cardiomyopathy in the absence of hemodynamically significant valve dysfunction, suggesting alternative mechanisms of disease progression. Disruption of LDL receptor-related protein-1 (Lrp1 in smooth muscle cells has been shown to cause vascular pathologies similar to Marfan syndrome, with activation of smooth muscle cells, vascular dysfunction and aortic aneurysms. This study used echocardiography and blood pressure monitoring in mouse models to determine whether inactivation of Lrp1 in vascular smooth muscle leads to cardiomyopathy, and if so, whether the mechanism is a consequence of valvular disease. Hemodynamic changes during treatment with captopril were also assessed. Dilation of aortic roots was observed in young Lrp1-knockout mice and progressed as they aged, whereas no significant aortic dilation was detected in wild type littermates. Diastolic blood pressure was lower and pulse pressure higher in Lrp1-knockout mice, which was normalized by treatment with captopril. Aortic dilation was followed by development of aortic insufficiency and subsequent dilated cardiomyopathy due to valvular disease. Thus, smooth muscle cell Lrp1 deficiency results in aortic dilation and insufficiency that causes secondary cardiomyopathy that can be improved by captopril. These findings provide novel insights into mechanisms of cardiomyopathy associated with vascular activation and offer a new model of valvular cardiomyopathy.

  13. Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

    Science.gov (United States)

    Ripoll-Vera, Tomás; Gámez, José María; Govea, Nancy; Gómez, Yolanda; Núñez, Juana; Socías, Lorenzo; Escandell, Ángela; Rosell, Jorge

    2016-02-01

    Mutations in the troponin T gene (TTNT2) have been associated in small studies with the development of hypertrophic cardiomyopathy characterized by a high risk of sudden death and mild hypertrophy. We describe the clinical course of patients carrying mutations in this gene. We analyzed the clinical characteristics and prognosis of patients with mutations in the TNNT2 gene who were seen in an inherited cardiac disease unit. Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. Thirty-three additional genetic carriers were identified through family assessment. The study included 54 genetic carriers: 56% were male, and the mean average age was 41 ± 17 years. There were 33 cases of hypertrophic cardiomyopathy, 9 of dilated cardiomyopathy, and 1 of noncompaction cardiomyopathy, and maximal myocardial thickness was 18.5 ± 6mm. Ventricular dysfunction was present in 30% of individuals and a history of sudden death in 62%. During follow-up, 4 patients died and 14 (33%) received a defibrillator (8 probands, 6 relatives). Mean survival was 54 years. Carriers of Arg92Gln had early disease development, high penetrance, a high risk of sudden death, a high rate of defibrillator implantation, and a high frequency of mixed phenotype. Mutations in the TNNT2 gene were more common in this series than in previous studies. The clinical and prognostic profiles depended on the mutation present. Carriers of the Arg92Gln mutation developed hypertrophic or dilated cardiomyopathy and had a significantly worse prognosis than those with other mutations in TNNT2 or other sarcomeric genes. Copyright © 2015 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All rights reserved.

  14. [Myocardial regional thickness in patients with and without cardiomyopathy assessed by cardiac magnetic resonance].

    Science.gov (United States)

    de Zan, Macarena; Carrascosa, Patricia; Deviggiano, Alejandro; Capuñay, Carlos; Rodríguez-Granillo, Gastón A

    To explore regional differences in myocardial wall thickness (WT) among the most prevalent cardiomyopathies and in individuals without structural heart disease using cardiac magnetic resonance. Patients older than 18 years referred to cardiac magnetic resonance during the period between January 2014 and September 2014, with a diagnosis of hypertrophic cardiomyopathy, idiopathic dilated cardiomyopathy, ischemic cardiomyopathy, and myocarditis were retrospectively selected from our database. One hundred twenty patients patients were included. The control group had an average WT of 5.9±1.1mm, with a WT index of 2.9±0.8. Significantly lower mean WT in the apical segments were identified in both the control group (basal 6.7±1.3 vs. mid 6.0±1.3 vs. apical 4.6±1.0mm, P<.0001) and in all evaluated cardiomyopathies (hypertrophic cardiomyopathy: basal 10.5±2.4 vs. mid 10.8±2.7 vs. apical 7.3±3.3mm, P<.0001; idiopathic dilated cardiomyopathy: basal 7.7±1.7 vs. mid 7.6±1.3 vs. apical 5.4±1.3mm, P<.0001; ischemic cardiomyopathy: basal 7.4±1.7 vs. mid 7.5±1.9 vs. apical 5.5±1.8mm, P<.0001; myocarditis: basal 7.1±1.5 vs. mid 6.4±1.1 vs. apical 5.1±0.8, P<.0001). Significant gender differences were also evident regarding the mean WT both in the control group (male 6.5±2.1 vs. female 5.2±1.7mm, P<.0001), as in hypertrophic cardiomyopathy (10.5±5.3 vs. 8.5±5.7mm, P<.0001) and myocarditis (6.6±2.0 vs. 5.2±1.6mm, P<.0001). We found a relatively high prevalence of segments commonly deemed thinned among patients without structural heart disease. We also observed a marked asymmetry and longitudinal gradient in wall thickness both in controls and in the various cardiomyopathies evaluated. Copyright © 2016 Instituto Nacional de Cardiología Ignacio Chávez. Publicado por Masson Doyma México S.A. All rights reserved.

  15. A validation study of the 2003 American College of Cardiology/European Society of Cardiology and 2011 American College of Cardiology Foundation/American Heart Association risk stratification and treatment algorithms for sudden cardiac death in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    O'Mahony, Constantinos; Tome-Esteban, Maite; Lambiase, Pier D; Pantazis, Antonios; Dickie, Shaughan; McKenna, William J; Elliott, Perry M

    2013-04-01

    Sudden cardiac death (SCD) is a common mode of death in hypertrophic cardiomyopathy (HCM), but identification of patients who are at a high risk of SCD is challenging as current risk stratification guidelines have never been formally validated. The objective of this study was to assess the power of the 2003 American College of Cardiology (ACC)/European Society of Cardiology (ESC) and 2011 ACC Foundation (ACCF)/American Heart Association (AHA) SCD risk stratification algorithms to distinguish high risk patients who might be eligible for an implantable cardioverter defibrillator (ICD) from low risk individuals. We studied 1606 consecutively evaluated HCM patients in an observational, retrospective cohort study. Five risk factors (RF) for SCD were assessed: non-sustained ventricular tachycardia, severe left ventricular hypertrophy, family history of SCD, unexplained syncope and abnormal blood pressure response to exercise. During a follow-up period of 11 712 patient years (median 6.6 years), SCD/appropriate ICD shock occurred in 20 (3%) of 660 patients without RF (annual rate 0.45%), 31 (4.8%) of 636 patients with 1 RF (annual rate 0.65%), 27 (10.8%) of 249 patients with 2 RF (annual rate 1.3%), 7 (13.7%) of 51 patients with 3 RF (annual rate 1.9%) and 4 (40%) of 10 patients with ≥4 RF (annual rate 5.0%). The risk of SCD increased with multiple RF (2 RF: HR 2.87, p≤0.001; 3 RF: HR 4.32, p=0.001; ≥4 RF: HR 11.37, p<0.0001), but not with a single RF (HR 1.43 p=0.21). The area under time-dependent receiver operating characteristic curves (representing the probability of correctly identifying a patient at risk of SCD on the basis of RF profile) was 0.63 at 1 year and 0.64 at 5 years for the 2003 ACC/ESC algorithm and 0.61 at 1 year and 0.63 at 5 years for the 2011 ACCF/AHA algorithm. The risk of SCD increases with the aggregation of RF. The 2003 ACC/ESC and 2011 ACCF/AHA guidelines distinguish high from low risk individuals with limited power.

  16. Recommendations for participation in competitive sport and leisure-time physical activity in individuals with cardiomyopathies, myocarditis and pericarditis.

    Science.gov (United States)

    Pelliccia, Antonio; Corrado, Domenico; Bjørnstad, Hans Halvor; Panhuyzen-Goedkoop, Nicole; Urhausen, Axel; Carre, Francois; Anastasakis, Aris; Vanhees, Luc; Arbustini, Eloisa; Priori, Silvia

    2006-12-01

    Several relatively uncommon, but important cardiovascular diseases are associated with increased risk for acute cardiac events during exercise (including sudden death), such as hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC) and myo-pericarditis. Practising cardiologists are frequently asked to advise on exercise programmes and sport participation in young individuals with these cardiovascular diseases. Indeed, many asymptomatic (or mildly symptomatic) patients with cardiomyopathies aspire to a physically active lifestyle to take advantage of the many documented benefits of exercise. While recommendations dictating the participation in competitive sport for athletes with cardiomyopathies and myo-pericarditis have recently been published as a consensus document of the European Society of Cardiology, no European guidelines have addressed the possible participation of patients with cardiomyopathies in recreational and amateur sport activities. The present document is intended to offer a comprehensive overview to practising cardiologists and sport physicians of the recommendations governing safe participation in different types of competitive sport, as well as the participation in a variety of recreational physical activities and amateur sports in individuals with cardiomyopathies and myo-pericarditis. These recommendations, based largely on the experience and insights of the expert panel appointed by the European Society of Cardiology, include the most up-to-date information concerning regular exercise and sports activity in patients with cardiomyopathies and myo-pericarditis.

  17. Hypertrophic Cardiomyopathy—Past, Present and Future

    Directory of Open Access Journals (Sweden)

    Alphonsus C. Liew

    2017-12-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common genetic cardiomyopathy with a prevalence of 1 in 500 in the general population. Since the first pathological case series at post mortem in 1957, we have come a long way in its understanding, diagnosis and management. Here, we will describe the history of our understanding of HCM including the initial disease findings, diagnostic methods and treatment options. We will review the current guidelines for the diagnosis and management of HCM, current gaps in the evidence base and discuss the new and promising developments in this field.

  18. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

    Science.gov (United States)

    Charron, Philippe; Elliott, Perry M; Gimeno, Juan R; Caforio, Alida L P; Kaski, Juan Pablo; Tavazzi, Luigi; Tendera, Michal; Maupain, Carole; Laroche, Cécile; Rubis, Pawel; Jurcut, Ruxandra; Calò, Leonardo; Heliö, Tiina M; Sinagra, Gianfranco; Zdravkovic, Marija; Kavoliuniene, Aušra; Felix, Stephan B; Grzybowski, Jacek; Losi, Maria-Angela; Asselbergs, Folkert W; García-Pinilla, José Manuel; Salazar-Mendiguchia, Joel; Mizia-Stec, Katarzyna; Maggioni, Aldo P

    2018-05-21

    The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]. Differences between cardiomyopathy subtypes (P < 0.001) were observed for age at diagnosis, history of familial disease, history of sustained ventricular arrhythmia, use of magnetic resonance imaging or genetic testing, and implantation of defibrillators. When compared with probands, relatives had a lower age at diagnosis (P < 0.001), but a similar rate of symptoms and defibrillators. When compared with the Long-Term phase, patients of the Pilot phase (enrolled in more expert centres) had a more frequent rate of familial disease (P < 0.001), were more frequently diagnosed with a rare underlying disease (P < 0.001), and more frequently implanted with a defibrillator (P = 0.023). Comparing four geographical areas, patients from Southern Europe had a familial disease more frequently (P < 0.001), were more frequently diagnosed in the context of a family screening (P < 0.001), and more frequently diagnosed with a rare underlying disease (P < 0.001). By providing contemporary observational data on characteristics and management of patients with cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.

  19. Dilated Cardiomyopathy

    Science.gov (United States)

    ... Family history of dilated cardiomyopathy Inflammation of heart muscle from immune system disorders, such as lupus Neuromuscular disorders, such as muscular dystrophy Complications Complications from dilated cardiomyopathy include: Heart ...

  20. Cardiac cell damage in hypertrophic cardiomyopathy evaluated by beta-methyl-branched fatty acid analogue, iodine-123-15-(p-iodophenyl)-3-(R,S)-methylpen-tadecanoic acid (BMIPP) myocardial fatty-acid imaging and late gadolinium-enhanced contrast magnetic resonance imaging. Usefulness of combining the two techniques

    International Nuclear Information System (INIS)

    Kawade, Masafumi; Teraoka, Kunihiko; Hirano, Masaharu; Igarashi, Yuko; Yamada, Masao; Chikamori, Taishiro; Takazawa, Kenji; Yamashina, Akira

    2011-01-01

    Late gadolinium-enhanced (LGE) magnetic resonance imaging (MRI) has been found to be a highly valuable imaging modality for myocardial characterization in cases of hypertrophic cardiomyopathy (HCM). In addition, abnormalities of BMIPP uptake have also been recognized in HCM. In this study, we hypothesized that abnormalities of fatty acid uptake and metabolism may be detected before fibrosis can be recognized on cardiovascular MRI in patients with HCM. Twenty-four patients with HCM were examined by both BMIPP myocardial fatty acid imaging and LGE MRI, and the results of the two imaging methods were compared. BMIPP uptake abnormalities were recognized in 23 of the 24 HCM patients (95.8%) and 126 out of the 408 segments (30.9%) examined, and were most frequently located in the interventricular septum and anterior wall of the left ventricle, the inferior wall and apex of the heart. Areas of LGE were recognized in 18 of the 24 HCM patients (75%) and 50 of the 408 segments (12.2%) examined, and were most frequently located in the interventricular septum of the left ventricle. Double-positive results of both BMIPP uptake abnormalities and LGE were recognized in 18 of the 24 cases (75.0%) and 45 of the 408 segments (11.0%) examined. Double-positive results were noted most frequently in the interventricular septum of the left ventricle and the anterior wall. The areas showing BMIPP uptake abnormalities were more extensive than those showing LGE on MRI. In addition, the positivity rate for BMIPP uptake abnormalities in areas showing LGE on MRI was considerably higher than that of LGE positivity in areas positive for BMIPP uptake abnormalities. These results are not contradictory to our hypothesis. Therefore, differences between the examination methods in terms of the extent and positivity rate in cases of HCM may be related to the stage of progression of the cardiac muscle cell damage in cases of HCM. Thus, the use of both examinations together might be useful in the

  1. EBCT in diagnosis on primary cardiomyopathy

    International Nuclear Information System (INIS)

    Li Xiangmin; Zhou Xuhui; Meng Quanfei; Li Weiduo; Peng Qian; Tan Zhiyu

    2000-01-01

    Objective: To evaluate the diagnostic value of electron beam CT (EBCT) in primary cardiomyopathy (PCM). Methods: EBCT including coronary scanning and heart movie study was performed in 15 patients. The diagnosis of PCM was established by clinical and imaging findings or/and pathologic examination. Results: BECT findings related to the classification of PCM drawn up by WHO/ISFC were as follows: (1) dilated PCM (8 cases): dilated left ventricle (LV) was found in 7 of 8 cases and dilated right ventricle (RV) in the remaining one. Hypokinetic contraction of the LV wall with (250 ± 101) ml LVEDV and (18.9 ±6.6)% LVEF presented in the patients with dilated LV. (2) Hypertrophic PCM (5 cases): Hypertrophic ventricular septum (16.5 ± 2.3) mm was demonstrated in all cases, hypertrophy of the LV wall or the apex in 3 of 5 cases, and stenosis of the LV outflow tract in 2 cases. (3) Restrictive PCM (2 cases): Thickening of endocardium with lower density than cardiac muscle, reduced RV, obliteration of apex, hypokinetic contraction of the RV wall, and dilatation of right atrium (RA) with parietal thrombus formation of RA was identified in one patient. Both the LV and the RV were involved, with enlargement of atrium. Conclusion: The findings of PCM on EBCT seem to reflect pathologic and functional changes of PCM, and may be useful for diagnosis and classification of PCM

  2. Infectious agents and inflammation in donated hearts and dilated cardiomyopathies related to cardiovascular diseases, Chagas' heart disease, primary and secondary dilated cardiomyopathies.

    Science.gov (United States)

    Mangini, Sandrigo; Higuchi, Maria de Lourdes; Kawakami, Joyce Tiyeko; Reis, Marcia Martins; Ikegami, Renata Nishiyama; Palomino, Suely Aparecida Pinheiro; Pomerantzeff, Pablo Maria Alberto; Fiorelli, Alfredo Inácio; Marcondes-Braga, Fabiana Goulart; Bacal, Fernando; Ferreira, Sílvia Moreira Ayub; Issa, Victor Sarli; Souza, Germano Emílio Conceição; Chizzola, Paulo Roberto; Bocchi, Edimar Alcides

    2015-01-15

    Clinical and experimental conflicting data have questioned the relationship between infectious agents, inflammation and dilated cardiomyopathy (DCM). The aim of this study was to determine the frequency of infectious agents and inflammation in endomyocardial biopsy (EMB) specimens from patients with idiopathic DCM, explanted hearts from different etiologies, including Chagas' disease, compared to donated hearts. From 2008 to 2011, myocardial samples from 29 heart donors and 55 patients with DCMs from different etiologies were studied (32 idiopathic, 9 chagasic, 6 ischemic and 8 other specific etiologies). Inflammation was investigated by immunohistochemistry and infectious agents by immunohistochemistry, molecular biology, in situ hybridization and electron microscopy. There were no differences regarding the presence of macrophages, expression of HLA class II and ICAM-I in donors and DCM. Inflammation in Chagas' disease was predominant. By immunohistochemistry, in donors, there was a higher expression of antigens of enterovirus and Borrelia, hepatitis B and C in DCMs. By molecular biology, in all groups, the positivity was elevated to microorganisms, including co-infections, with a higher positivity to adenovirus and HHV6 in donors towards DCMs. This study was the first to demonstrate the presence of virus in the heart tissue of chagasic DCM. The presence of inflammation and infectious agents is frequent in donated hearts, in the myocardium of patients with idiopathic DCM, myocardial dysfunction related to cardiovascular diseases, and primary and secondary cardiomyopathies, including Chagas' disease. The role of co-infection in Chagas' heart disease physiopathology deserves to be investigated in future studies. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  3. Modeling Treatment Response for Lamin A/C Related Dilated Cardiomyopathy in Human Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Lee, Yee-Ki; Lau, Yee-Man; Cai, Zhu-Jun; Lai, Wing-Hon; Wong, Lai-Yung; Tse, Hung-Fat; Ng, Kwong-Man; Siu, Chung-Wah

    2017-07-28

    Precision medicine is an emerging approach to disease treatment and prevention that takes into account individual variability in the environment, lifestyle, and genetic makeup of patients. Patient-specific human induced pluripotent stem cells hold promise to transform precision medicine into real-life clinical practice. Lamin A/C (LMNA)-related cardiomyopathy is the most common inherited cardiomyopathy in which a substantial proportion of mutations in the LMNA gene are of nonsense mutation. PTC124 induces translational read-through over the premature stop codon and restores production of the full-length proteins from the affected genes. In this study we generated human induced pluripotent stem cells-derived cardiomyocytes from patients who harbored different LMNA mutations (nonsense and frameshift) to evaluate the potential therapeutic effects of PTC124 in LMNA -related cardiomyopathy. We generated human induced pluripotent stem cells lines from 3 patients who carried distinctive mutations (R225X, Q354X, and T518fs) in the LMNA gene. The cardiomyocytes derived from these human induced pluripotent stem cells lines reproduced the pathophysiological hallmarks of LMNA -related cardiomyopathy. Interestingly, PTC124 treatment increased the production of full-length LMNA proteins in only the R225X mutant, not in other mutations. Functional evaluation experiments on the R225X mutant further demonstrated that PTC124 treatment not only reduced nuclear blebbing and electrical stress-induced apoptosis but also improved the excitation-contraction coupling of the affected cardiomyocytes. Using cardiomyocytes derived from human induced pluripotent stem cells carrying different LMNA mutations, we demonstrated that the effect of PTC124 is codon selective. A premature stop codon UGA appeared to be most responsive to PTC124 treatment. © 2017 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley.

  4. Fibrose miocárdica em pacientes com cardiomiopatia hipertrófica com alto risco para morte súbita cardíaca Fibrosis miocárdica en pacientes con cardiomiopatía hipertrófica con alto riesgo para muerte súbita cardíaca Myocardial fibrosis in patients with hypertrophic cardiomyopathy and high risk for sudden death

    Directory of Open Access Journals (Sweden)

    Afonso Akio Shiozaki

    2010-04-01

    expresan la muerte súbita como primer síntoma. Trabajos recientes vienen sugiriendo que la fibrosis miocárdica puede constituirse en un importante sustrato para las arritmias ventriculares malignas, responsables de la muerte súbita en esta enfermedad. OBJETIVO: Evaluación de la prevalencia y cuantificación de la fibrosis miocárdica (FM, en pacientes con CMH con alto riesgo o recuperados de muerte súbita, portadores de cardiodesfibrilador implantable (CDI. MÉTODOS: Un total de 28 pacientes con CMH portadores de CDI fueron sometidos a la tomografía computadorizada con múltiples detectores, para la realización de la técnica de realce tardío, y evaluación de la fibrosis miocárdica. RESULTADOS: El 96% de los pacientes presentaba fibrosis miocárdica (20,38 ± 15,55 gramos y correspondía a 15,96 ± 10,20% de la masa miocárdica total. La FM fue significativamente más prevalente que los demás factores de riesgo clásicos para muerte súbita. CONCLUSIÓN: Concluimos que existe una alta prevalencia de fibrosis miocárdica en pacientes con cardiomiopatía hipertrófica de alto riesgo o recuperados de muerte súbita, como en este grupo - portadores de cardiodesfibrilador implantable. La mayor prevalencia de la fibrosis miocárdica comparada a los factores de riesgo de peor pronóstico levanta la hipótesis de que la fibrosis miocárdica pueda ser un importante sustrato potencialmente necesario en la génesis de las arritmias desencadenadoras de la muerte súbita.BACKGROUND: The stratification of risk for sudden death in hypertrophic cardiomyopathy (HCM continues to be a true challenge due to the great heterogeneity of this disease's presentation, as most individuals remain asymptomatic during their entire lives and others present sudden death as first symptom. Recent studies have suggested that myocardial fibrosis may represent an important substrate for the malignant ventricular arrhythmias, that are responsible for the cases of sudden death related to this

  5. Dilated cardiomyopathy secondary to rickets-related hypocalcaemia: eight case reports and a review of the literature.

    Science.gov (United States)

    Yilmaz, Osman; Olgun, Hasim; Ciftel, Murat; Kilic, Omer; Kartal, Ibrahim; Iskenderoglu, Nebahat Y; Laloglu, Fuat; Ceviz, Naci

    2015-02-01

    Dilated cardiomyopathy is usually idiopathic and may arise secondary to infections or metabolic or genetic causes. Another rare cause is hypocalcaemia. Owing to the fact that calcium plays an essential role in excitation and contraction of myocardial muscle, myocardial contractility may decline in patients with hypocalcaemia. Patients with symptoms of congestive heart failure and rickets-related hypocalcaemia were assessed clinically and by echocardiography in a paediatric cardiology clinic. Echocardiography was performed for all patients. Rickets was diagnosed according to the clinical, laboratory, and radiologic findings. Maternal lifestyle and living conditions were investigated, and the maternal 25-OH vitamin D3 blood level was measured. We evaluated eight patients who developed heart failure as a result of severe hypocalcaemia associated with rickets between August, 1999 and June, 2012. The age distribution of the patients was 3-12 months. Laboratory results were consistent with advanced-stage rickets. Severe hypocalcaemia was detected in all patients. The maternal 25-OH vitamin D3 levels were low. Echocardiography revealed increased pre-treatment left ventricle end-systolic and end-diastolic diameters for age and reduced ejection fraction and fractional shortening. After clinical improvement, the patients were discharged. Severe hypocalcaemia associated with rickets must always be kept in mind among the causes of dilated cardiomyopathy and impaired cardiac function in infants. If diagnosed and treated in time, dilated cardiomyopathy and severe heart failure related to rickets respond well.

  6. Scorpion-related cardiomyopathy and acute pulmonary edema in a child who is stung by Leiurus abdullahbayrami

    Directory of Open Access Journals (Sweden)

    Mehmet Dokur

    2017-09-01

    Full Text Available Venom of Leiurus abdullahbayrami (Scorpiones: Buthidae is an extremely toxic one and it stimulates voltage-gated sodium and potassium channels. In case of a stung by this scorpion; excessive catecholamine release occur and it impairs left ventricle contractility and consequently a heart failure occurs (scorpion sting-related cardiomyopathy. In addition to this cardiac-induced acute pulmonary, edema may occur in severe cases too. An 11-year-old male child who was stung by a scorpion (species: Leiurus abdullahbayrami consulted to the Emergency Room. Even after 7 h of scorpion envenomation he was confused and having hallucinations. Besides he was dyspneic, tachycardic, hypotensive and got worse in overall situation due to cardiogenic pulmonary edema. These clinical findings are concordant with the Level III scorpion envenomation (major systemic manifestations. Positive inotropic agents, diuretics and antiagregant agents used on supportive therapy in his treatment. After 2 weeks he get recovered and discharged from the pediatric intensive care unit. This research is conducted by thinking emergency physicians should learn that Leiurus abdullahbayrami envenomation can cause scorpion-related cardiomyopathy and acute pulmonary edema especially in children. Keywords: Leiurus, Scorpionism, Cardiomyopathy, Pulmonary edema

  7. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Lakdawala, Neal K; Thune, Jens J; Colan, Steven D

    2012-01-01

    Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere...... mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM....

  8. Osteoarthritis: Control of human cartilage hypertrophic differentiation. Research highlight van: Gremlin1, frizzled-related protein, and Dkk-1 are key regulators of human articular cartilage homeostasis

    NARCIS (Netherlands)

    Buckland, J.; Leijten, Jeroen Christianus Hermanus; van Blitterswijk, Clemens; Karperien, Hermanus Bernardus Johannes

    2012-01-01

    Disruption of articular cartilage homeostasis is important in osteoarthritis (OA) pathogenesis, key to which is activation of articular chondrocyte hypertrophic differentiation. Healthy articular cartilage is resistant to hypertrophic differentiation, whereas growth-plate cartilage is destined to

  9. Cardiomiopatía hipertrófica y síndrome de Wolff-Parkinson-White con bloqueo aurículo-ventricular completo. Una extraña asociación: Reporte de un caso Hypertrophic cardiomyopathy and Wolff-Parkinson-White Syndrome with complete auriculoventricular block. A strange association: Report of one case

    Directory of Open Access Journals (Sweden)

    Franco J Vallejo

    2007-12-01

    Full Text Available Paciente masculino de 22 años quien ingresa por episodio de síncope. En el electrocardiograma se encuentra patrón de Wolff-Parkinson-White y signos de sobrecarga auricular e hipertrofia ventricular izquierda con bloqueo aurículo-ventricular completo. El ecocardiograma transtorácico es compatible con cardiomiopatía hipertrófica no obstructiva. Se lleva a estudio electrofisiológico donde se encuentra pre-excitación por vía accesoria y bloqueo aurículo-ventricular infrahisiano; se realiza ablación y se implanta marcapasos bicameral.A 22 years old male patient is admitted for a syncope episode. An electrocardiogram shows a Wolff-Parkinson-White pattern and signs of auricular overload with left ventricular hypertrophy and complete auriculoventricular block. The transthoracic echocardiogram is compatible with non-obstructive hypertrophic cardiomyopathy. An electrophysiological study is carried out, finding pre-excitation through an accessory way and infra-His auriculoventricular block. An ablation is performed and a bicameral pacemaker is implanted.

  10. Nurse-led follow-up care for patient relatives at risk for cardiomyopathy

    NARCIS (Netherlands)

    Nieuwhof, Karin

    2016-01-01

    Background and study aims Cardiomyopathy is a long term disease that affects the heart muscle. It involves the muscle walls of the heart have become stretched and thin so they are no longer effective at pumping blood around the body. It is an inherited (genetic) condition, which means that people

  11. Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Atsushi Sanbe

    Full Text Available An arg120gly (R120G missense mutation in HSPB5 (alpha-beta-crystallin , which belongs to the small heat shock protein (HSP family, causes desmin-related cardiomyopathy (DRM, a muscle disease that is characterized by the formation of inclusion bodies, which can contain pre-amyloid oligomer intermediates (amyloid oligomer. While we have shown that small HSPs can directly interrupt amyloid oligomer formation, the in vivo protective effects of the small HSPs on the development of DRM is still uncertain.In order to extend the previous in vitro findings to in vivo, we used geranylgeranylacetone (GGA, a potent HSP inducer. Oral administration of GGA resulted not only in up-regulation of the expression level of HSPB8 and HSPB1 in the heart of HSPB5 R120G transgenic (R120G TG mice, but also reduced amyloid oligomer levels and aggregates. Furthermore, R120G TG mice treated with GGA exhibited decreased heart size and less interstitial fibrosis, as well as improved cardiac function and survival compared to untreated R120G TG mice. To address possible mechanism(s for these beneficial effects, cardiac-specific transgenic mice expressing HSPB8 were generated. Overexpression of HSPB8 led to a reduction in amyloid oligomer and aggregate formation, resulting in improved cardiac function and survival. Treatment with GGA as well as the overexpression of HSPB8 also inhibited cytochrome c release from mitochondria, activation of caspase-3 and TUNEL-positive cardiomyocyte death in the R120G TG mice.Expression of small HSPs such as HSPB8 and HSPB1 by GGA may be a new therapeutic strategy for patients with DRM.

  12. Restrictive cardiomyopathy

    Science.gov (United States)

    ... People with restrictive cardiomyopathy may be heart transplant candidates. The outlook depends on the cause of the ... www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. ...

  13. Peripartum Cardiomyopathy

    Science.gov (United States)

    ... short- ness of breath, and palpitations. •  Electrocardiogram (heart tracing) to assess heart rate and rhythm, to look ... Accessed January 22, 2013. The Peripartum Cardiomyopathy Network Web site. http: / / www. peripartumcmnetwork. pitt. edu. Accessed January ...

  14. Contrast Media–Induced Anaphylaxis Causing a Stress-Related Cardiomyopathy Post Percutaneous Coronary Intervention: Case Report

    Directory of Open Access Journals (Sweden)

    Rajeev Seecheran

    2017-05-01

    Full Text Available Anaphylaxis is a sudden-onset, severe hypersensitivity reaction that can be potentially fatal. It can often transition to refractory hemodynamic instability, eventually resulting in death. Stress-related cardiomyopathies (SRCs have multifactorial etiologies, including being linked to excessive catecholamine release in periods of intense stress. This novel case report recounts a SRC caused by contrast-induced anaphylaxis within 1 hour post percutaneous coronary intervention. Both acutely life-threatening conditions may occur simultaneously and are implicated with devastating complications. Further research is required to understand this cardiac-neuroaxis interplay in SRC to identify risk factors and develop management strategies.

  15. Correlation between changes in diastolic dysfunction and health-related quality of life after cardiac rehabilitation program in dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Sherin H.M. Mehani

    2013-03-01

    Full Text Available Chronic heart failure (CHF is a complex syndrome characterized by progressive decline in left ventricular function, low exercise tolerance and raised mortality and morbidity. Left ventricular diastolic dysfunction plays a major role in CHF and progression of most cardiac diseases. The current recommended goals can theoretically be accomplished via exercise and pharmacological therapy so the aim of the present study was to evaluate the impact of cardiac rehabilitation program on diastolic dysfunction and health related quality of life and to determine the correlation between changes in left ventricular diastolic dysfunction and domains of health-related quality of life (HRQoL. Forty patients with chronic heart failure were diagnosed as having dilated cardiomyopathy (DCM with systolic and diastolic dysfunction. The patients were equally and randomly divided into training and control groups. Only 30 of them completed the study duration. The training group participated in rehabilitation program in the form of circuit-interval aerobic training adjusted according to 55–80% of heart rate reserve for a period of 7 months. Circuit training improved both diastolic and systolic dysfunction in the training group. On the other hand, only a significant correlation was found between improvement in diastolic dysfunction and health related quality of life measured by Kansas City Cardiomyopathy Questionnaire. It was concluded that improvement in diastolic dysfunction as a result of rehabilitation program is one of the important underlying mechanisms responsible for improvement in health-related quality of life in DCM patients.

  16. Risk of Cardiomyopathy in Younger Persons With a Family History of Death from Cardiomyopathy

    DEFF Research Database (Denmark)

    Ranthe, Mattis F; Carstensen, Lisbeth; Øyen, Nina

    2015-01-01

    at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (... ascertained family history of premature (... incidence rate ratios for cardiomyopathy by family history of premature death. Premature cardiomyopathy deaths in first- and second-degree relatives were associated with 29- and 6-fold increases in the rate of cardiomyopathy, respectively. If the first-degree relative died aged

  17. Peripartum cardiomyopathy

    International Nuclear Information System (INIS)

    Velasquez V, Jorge E; Duque R, Mauricio

    2008-01-01

    Peripartum cardiomyopathy is a clinical entity with a variable frequency according to the zone of the study. It is characterized by a systolic dysfunction of the left ventricle and posterior appearance of heart failure symptoms that occur during the last month of pregnancy and the first post-partum months. Its etiology isn't still clear, but different theories are proposed based on inflammatory, infectious and autoimmune processes. Alterations related to oxidative stress that could largely explain this pathology were recently described. Its clinical presentation has a big similitude with all other causes of heart failure although atypical presentations have been described. Its diagnosis requires a high suspicion level and must be considered in any woman with symptoms of heart failure during the peripartum. The conventional treatment of chronic heart failure that includes beta-blockers, angiotensin converting enzyme inhibitors and diuretics, in addition to the advances in diagnosis and management of acute heart failure, allowed changing the history of the disease by lowering mortality and recovering systolic function of the left ventricle. Gestations posterior to the development of this entity will depend on the complete recovery of heart function without lowering the risk of recurrence. There still remain many questions to answer in areas like etiology, risk factors, treatment and prognosis markers that may allow to prevent and to manage in an appropriate and safe way both the mother and her son.

  18. Hypertrophic pachymeningitis accompanying neuromyelitis optica spectrum disorder: A case report.

    Science.gov (United States)

    Kon, Tomoya; Nishijima, Haruo; Haga, Rie; Funamizu, Yukihisa; Ueno, Tatsuya; Arai, Akira; Suzuki, Chieko; Nunomura, Jin-ichi; Baba, Masayuki; Takahashi, Toshiyuki; Tomiyama, Masahiko

    2015-10-15

    We report a case of idiopathic cerebral hypertrophic pachymeningitis accompanying neuromyelitis optica spectrum disorder. No other identifiable cause of pachymeningitis was detected. Corticosteroid therapy was effective for both diseases. Hypertrophic pachymeningitis is closely related to autoimmune inflammatory disease of the central nervous system. This case supports the hypothesis that hypertrophic pachymeningitis can be a rare comorbidity of neuromyelitis optica spectrum disorder. Copyright © 2015. Published by Elsevier B.V.

  19. Restrictive Cardiomyopathy

    Science.gov (United States)

    ... up in the circulatory system. In time, the heart fails. What causes it? Restrictive cardiomyopathy is often caused by diseases in other parts of the body. One known cause is cardiac ... build up in the heart tissue, making the tissue stiff and thickened. Cardiac ...

  20. Takotsubo cardiomyopathy

    DEFF Research Database (Denmark)

    Nielsen, Lene Hüche; Munk, Kim; Goetzsche, Ole

    2009-01-01

    INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss the pote......INTRODUCTION: Sparse information with regard to the electrocardiographic (ECG) changes in Takotsubo cardiomyopathy (TC) is available. The purpose of this study was to describe the clinical characteristics and electrocardiographic changes in a Danish cohort of patients with TC. We discuss...... retrospectively from medical records and the hospitals laboratory database. RESULTS: Seven patients with TC were identified comprising six females and one male (mean age 70, range 53-81 years). In the acute phase all patients had ECG changes compatible with ST-elevation acute myocardial infarction (STEMI...

  1. Infantile hypertrophic pyloric stenosis

    DEFF Research Database (Denmark)

    Pedersen, Rikke Neess; Garne, Ester; Loane, Maria

    2008-01-01

    OBJECTIVE: The objective of this study was to present epidemiologic data on infantile hypertrophic pyloric stenosis (IHPS) from seven well-defined European regions, and to compare incidence and changes in incidence over time between these regions. METHODS: This was a population-based study using ...

  2. Genetics of cardiomyopathies in children

    Directory of Open Access Journals (Sweden)

    Matteo Vatta

    2011-08-01

    Full Text Available Cardiomyopathies are diseases of the heart muscle leading to heart failure and/or an increased risk of arrhythmogenic sudden cardiac death. These disorders represent a major cause of morbidity and mortality in children. In childhood forms of cardiomyopathy, genetic etiologies are frequent, but non-genetic or acquired causes, such viral infection, also play a significant role. In the last twenty years, the genetic causes of cardiomyopathies have been increasingly identified and clinical correlations are beginning to be defined. Here we present an overview of the recent advances in our understanding of the genetics of cardiomyopathies in children and what is known about the pathophysiological mechanisms underlying these gene-related forms of disease.

  3. Hypoxia inhibits hypertrophic differentiation and endochondral ossification in explanted tibiae.

    Directory of Open Access Journals (Sweden)

    Jeroen C H Leijten

    Full Text Available Hypertrophic differentiation of growth plate chondrocytes induces angiogenesis which alleviates hypoxia normally present in cartilage. In the current study, we aim to determine whether alleviation of hypoxia is merely a downstream effect of hypertrophic differentiation as previously described or whether alleviation of hypoxia and consequent changes in oxygen tension mediated signaling events also plays an active role in regulating the hypertrophic differentiation process itself.Fetal mouse tibiae (E17.5 explants were cultured up to 21 days under normoxic or hypoxic conditions (21% and 2.5% oxygen respectively. Tibiae were analyzed on growth kinetics, histology, gene expression and protein secretion.The oxygen level had a strong influence on the development of explanted fetal tibiae. Compared to hypoxia, normoxia increased the length of the tibiae, length of the hypertrophic zone, calcification of the cartilage and mRNA levels of hypertrophic differentiation-related genes e.g. MMP9, MMP13, RUNX2, COL10A1 and ALPL. Compared to normoxia, hypoxia increased the size of the cartilaginous epiphysis, length of the resting zone, calcification of the bone and mRNA levels of hyaline cartilage-related genes e.g. ACAN, COL2A1 and SOX9. Additionally, hypoxia enhanced the mRNA and protein expression of the secreted articular cartilage markers GREM1, FRZB and DKK1, which are able to inhibit hypertrophic differentiation.Collectively our data suggests that oxygen levels play an active role in the regulation of hypertrophic differentiation of hyaline chondrocytes. Normoxia stimulates hypertrophic differentiation evidenced by the expression of hypertrophic differentiation related genes. In contrast, hypoxia suppresses hypertrophic differentiation of chondrocytes, which might be at least partially explained by the induction of GREM1, FRZB and DKK1 expression.

  4. Cardiac chambers and their walls in cardiomyopathies as evaluated with CT

    International Nuclear Information System (INIS)

    Wojtowicz, J.; Pawlak, B.; Lehman, Z.; Karwowski, A.; Akademia Medyczna, Poznan

    1984-01-01

    Thirty-two patients with cardiomyopathy, 25 with hypertrophic and 7 with dilated form were examined by cardiac catheterisation, left ventriculography, selective coronary angiography and ungated cardiac computed tomography. Diffuse hypertrophy, localized hypertrophy and dilated cardiomyopathy were diagnosed and assessed quantitatively based on CT linear, surface and volumetric parameters of cardiac morphology. Absolute septal thickness and left ventricular mass measured in CT image are the most discriminative attributes. (orig.)

  5. BAG3-related myopathy, polyneuropathy and cardiomyopathy with long QT syndrome.

    Science.gov (United States)

    Kostera-Pruszczyk, Anna; Suszek, Małgorzata; Płoski, Rafał; Franaszczyk, Maria; Potulska-Chromik, Anna; Pruszczyk, Piotr; Sadurska, Elżbieta; Karolczak, Justyna; Kamińska, Anna M; Rędowicz, Maria Jolanta

    2015-12-01

    BAG3 belongs to BAG family of molecular chaperone regulators interacting with HSP70 and anti-apoptotic protein Bcl-2. It is ubiquitously expressed with strong expression in skeletal and cardiac muscle, and is involved in a panoply of cellular processes. Mutations in BAG3 and aberrations in its expression cause fulminant myopathies, presenting with progressive limb and axial muscle weakness, and respiratory insufficiency and neuropathy. Herein, we report a sporadic case of a 15-years old girl with symptoms of myopathy, demyelinating polyneuropathy and asymptomatic long QT syndrome. Genetic testing demonstrated heterozygous mutation Pro209Leu (c.626C > T) in exon 3 of BAG3 gene causing severe myopathy and neuropathy, often associated with restrictive cardiomyopathy. We did not find a mutation in any known LQT syndrome genes. Analysis of muscle biopsy revealed profound disintegration of Z-discs with extensive accumulation of granular debris and large inclusions within fibers. We demonstrated profound alterations in BAG3 distribution as the protein localized to long filamentous structures present across the fibers that were positively stained not only for α-actinin but also for desmin and filamin indicating that those disintegrated Z-disc regions contained also other sarcomeric proteins. The mutation caused a decrease in the content of BAG3 and HSP70, and also of α-actinin desmin, filamin and fast myosin heavy chain, confirming its severe effect on the muscle fiber morphology and thus function. We provide further evidence that BAG3 is associated with Z-disc maintenance, and the Pro209Leu mutation may occur worldwide. We also provide a summary of cases associated with this mutation reported so far.

  6. Neopterin and Beta-2 Microglobulin Relations to Immunity and Inflammatory Status in Nonischemic Dilated Cardiomyopathy Patients

    Directory of Open Access Journals (Sweden)

    Celina Wojciechowska

    2014-01-01

    Full Text Available Background. The aim of the study was to assess the relationships among serum neopterin (NPT, β2-microglobulin (β2-M levels, clinical status, and endomyocardial biopsy results of dilated cardiomyopathy patients (DCM. Methods. Serum NPT and β-2 M were determined in 172 nonischaemic DCM patients who underwent right ventricular endomyocardial biopsy and 30 healthy subjects (ELISA test. The cryostat biopsy specimens were assessed using histology, immunohistology, and immunochemistry methods (HLA ABC, HLA DR expression, CD3 + lymphocytes, and macrophages counts. Results. The strong increase of HLA ABC or HLA DR expression was detected in 27.2% patients—group A—being low in 72.8% patients—group B. Neopterin level was increased in patients in group A compared to healthy controls 8.11 (4.50–12.57 versus 4.99 (2.66–8.28 nmol/L (P<0.05. β-2 microglobulin level was higher in DCM groups A (2.60 (1.71–3.58 and B (2.52 (1.51–3.72 than in the control group 1.75 (1.28–1.96 mg/L, P<0.001. Neopterin correlated positively with the number of macrophages in biopsy specimens (P<0.05 acute phase proteins: C-reactive proteins (P<0.05; fibrinogen (P<0.01; and NYHA functional class (P<0.05 and negatively with left ventricular ejection fraction (P<0.05. Conclusions. Neopterin but not β-2 microglobulin concentration reflected immune response in biopsy specimens. Neopterin correlated with acute phase proteins and stage of heart failure and may indicate a general immune and inflammatory activation in heart failure.

  7. Ventricular tachyarrhythmia-related basal cardiomyopathy in rabbits with vagal stimulation--a novel experimental model for inverted Takotsubo-like cardiomyopathy.

    Science.gov (United States)

    Takato, Tetsuya; Ashida, Terunao; Seko, Yoshinori; Fujii, Jun; Kawai, Sachio

    2010-07-01

    Electrical stimulation of the intact (unsectioned) cervical vagus in rabbits frequently provokes ventricular tachyarrhythmias that are often accompanied by mitral regurgitation. Unique pathological lesions often arise on the mitral valve, papillary muscles, and mitral annulus (mitral complex), the latter two of which become swollen and stiffened. These lesions are reversible in nature. Previous studies have essentially ignored the basal portion except for the mitral annulus. Therefore, the present study examined pathological lesions on the left ventricular basal portion in rabbits. The intact right vagal nerves of 20 anesthetized rabbits were repeatedly electrically stimulated under electrocardiographic monitoring. Colloidal carbon (lml) was injected intravenously immediately after the end of the stimulation and all animals were killed 1 week later. Pathological lesions were identified as carbon deposits visible at gross examination. Ventricular bigeminy was induced after vagal stimulation in 15 (75%) of the 20 rabbits. Pathological lesions were evident on the basal portion in 16 (80%) and on the mitral valve and papillary muscles of 15 (75%) of the 20 rabbits. Ventricular bigeminy was closely associated with the development of the pathological lesions, which were rarely observed on the ventricular apex. Cardiomyopathic lesions involving the basal portion and mitral complex were frequently induced in rabbits by vagal stimulation. These lesions bear a close similarity in distribution and reversibility to inverted Takotsubo cardiomyopathy. Copyright 2010 Japanese College of Cardiology. Published by Elsevier Ltd. All rights reserved.

  8. Use of cisplatin for control of metastatic malignant mesenchymoma and hypertrophic osteopathy in a dog

    International Nuclear Information System (INIS)

    Hahn, K.A.; Richardson, R.C.

    1989-01-01

    Cisplatin (cis-diammine-dichloroplatinum) treatment induced partial remission of pulmonary metastatic malignant mesenchymoma and nearly complete radiographic remission of hypertrophic osteopathy in a 14-year-old Beagle. Cisplatin was given once every 3 weeks. Clinical signs of hypertrophic osteopathy resolved one week after initiation of treatment. Partial remission of pulmonary metastases and partial radiographic remission of hypertrophic osteopathy was seen 6 weeks after initiation of treatment. Previous treatment of neoplasia-related hypertrophic osteopathy has consisted of removal of the initiating mass or vagotomy. In this case, appropriate chemotherapy was used to control clinical signs and progression of hypertrophic osteopathy

  9. Clinical assessment of serum myosin light chain I in patients with dilated cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Tsuda, Takashi; Izumi, Tohru; Shibata, Akira (Niigata Univ. (Japan). School of Medicine)

    1992-08-01

    Serum cardiac myosin light chain I (LCI) levels were quantitated using a radioimmunoassay kit in patients suspected of dilated cardiomyopathy (DCM). In this study, 55 patients were evaluated between 1986 and 1991. They were composed of 40 males and 15 females, and their age was 27-75 years (51[+-]11 years). The patients with renal dysfunction were excluded due to their serum creatinine levels (>2.0 mg/dl). After cardiac catheterization, endomyocardial biopsy and echocardiography, 44 patients were diagnosed as DCM, 2 as ischemic heart disease, 2 as chronic myocarditis, 1 as restrictive cardiomyopathy, 1 as dilated hypertrophic cardiomyopathy, 1 as cardiac amyloidosis, 2 as myopathy, 1 as polymyositis and 1 as hypothyroidism. Only two patients with DCM had elevated LCI. Besides, two patients with myopathy or hypothyroidism had elevated LCI. In the follow-up, one patient died suddenly 6 months later and another showed normal value of LCI four years later. LCI elevation in DCM was not related to either the severity of heart failure or cardiac function and it showed no finding of [sup 201]Tl myocardial defect or elevated CPK. The mechanism for elevated LCI in myopathy is related to a crossreaction with myosin light chain in the skeletal muscle. In hypothyroidism, it may be related to decreased clearance of normal LCI concentration or increased myosin light chain from damaged skeletal muscle. In conclusion, it is evident that the measurement of LCI is not helpful in clinical assessment of patients with DCM, but may be useful in detection of secondary cardiomyopathy. (author).

  10. Clinical assessment of serum myosin light chain I in patients with dilated cardiomyopathy

    International Nuclear Information System (INIS)

    Tsuda, Takashi; Izumi, Tohru; Shibata, Akira

    1992-01-01

    Serum cardiac myosin light chain I (LCI) levels were quantitated using a radioimmunoassay kit in patients suspected of dilated cardiomyopathy (DCM). In this study, 55 patients were evaluated between 1986 and 1991. They were composed of 40 males and 15 females, and their age was 27-75 years (51±11 years). The patients with renal dysfunction were excluded due to their serum creatinine levels (>2.0 mg/dl). After cardiac catheterization, endomyocardial biopsy and echocardiography, 44 patients were diagnosed as DCM, 2 as ischemic heart disease, 2 as chronic myocarditis, 1 as restrictive cardiomyopathy, 1 as dilated hypertrophic cardiomyopathy, 1 as cardiac amyloidosis, 2 as myopathy, 1 as polymyositis and 1 as hypothyroidism. Only two patients with DCM had elevated LCI. Besides, two patients with myopathy or hypothyroidism had elevated LCI. In the follow-up, one patient died suddenly 6 months later and another showed normal value of LCI four years later. LCI elevation in DCM was not related to either the severity of heart failure or cardiac function and it showed no finding of 201 Tl myocardial defect or elevated CPK. The mechanism for elevated LCI in myopathy is related to a crossreaction with myosin light chain in the skeletal muscle. In hypothyroidism, it may be related to decreased clearance of normal LCI concentration or increased myosin light chain from damaged skeletal muscle. In conclusion, it is evident that the measurement of LCI is not helpful in clinical assessment of patients with DCM, but may be useful in detection of secondary cardiomyopathy. (author)

  11. Infantile hypertrophic pyloric stenosis

    International Nuclear Information System (INIS)

    Breivik, K.; Soereide, J.A.; Bland, J.

    1990-01-01

    During an eight-year period, 40 patients were operated consecutively for pyloric stenosis. The most common symptom was projectile vomiting, which occurred in 92.5% of the cases. On examination only three patients had a palpable hypertrophic pylorus. In 39 patients a preoperative X-ray examination with contrast was necessary to confirm the diagnosis. A pyleromyotomy was performed in all patients. The diagnosis routines and the results of the treatment are discussed. 16 refs., 2 figs., 3 tabs

  12. É a cardiomiopatia hipertrófica apical vista em uma amostra na cidade do Rio de Janeiro similar à encontrada no oriente? Is the apical hypertrophic cardiomyopathy seen in one population in Rio de Janeiro city similar to that found in the east?

    Directory of Open Access Journals (Sweden)

    Francisco Manes Albanesi Fº

    1997-08-01

    Full Text Available OBJETIVO: Investigar a existência de diferença na forma de apresentação clínica e evolutiva da cardiomiopatia hipertrófica apical (CMHA, vista em uma amostra na cidade do Rio de Janeiro e a observada no oriente, onde foi descrita. MÉTODOS: Entre 156 pacientes com cardiomiopatia hipertrófica diagnosticados em nossa instituição, foram identificados 13 (8,34% com a forma apical, sendo estudadas as suas manifestações clínicas, os meios de diagnóstico e a sua evolução. RESULTADOS: Eram 8 homens e 5 mulheres, com idades entre 19 a 75 anos, todos da raça branca, a maioria sintomática. O eletrocardiograma revelou ondas T gigantes em precordiais em 10 pacientes (76,92%, o ecocardiograma (ECO, a presença de hipertrofia apical em todos os casos, sendo em 10 (76,92% restrita a ponta do ventrículo esquerdo (VE, em dois (15,4% a ponta do ventrículo direito (VD e, em 1 (7,68%, acometendo ambos os ventrículos. A cineventriculografia confirmou os achados do ECO. A evolução variou de 6 a 264 meses (x=95,4. Ocorreram dois óbitos (15,4% em pacientes com o comprometimento associado ao VD, devido ao aumento significativo da dimensão dos átrios, ocorrência de fibrilação atrial, insuficiência valvar mitral e/ou tricúspide e tromboembolismo. Entre os vivos, a paciente com acometimento do VD evolui com restrição diastólica, e os restantes com lesão localizada do VE , 9 estão assintomáticos em uso de propranolol (8 ou amiodarona (1 e um permanece assintomático sem medicação. CONCLUSÃO: presentação, diagnóstico e evolução, porém notamos em 3 pacientes ( 23,08% o acometimento da ponta do VD, não descrito no oriente, mas com péssimo prognóstico evolutivo.PURPOSE: To investigate the differences between clinical aspects and evolution of apical hypertrophic cardiomyopathy (AHCM seen in Rio de Janeiro and the Oriental form, which was the first described. METHODS: In 156 patients with AHCM diagnosed in our institution, there were

  13. Inherited cardiomyopathies and sports participation.

    Science.gov (United States)

    Zorzi, A; Pelliccia, A; Corrado, D

    2018-03-01

    Competitive sports activity is associated with an increased risk of sudden cardiovascular death in adolescents and young adults with inherited cardiomyopathies. Many young subjects aspire to continue competitive sport after a diagnosis of cardiomyopathy and the clinician is frequently confronted with the problem of eligibility and the request of designing specific exercise programs. Since inherited cardiomyopathies are the leading cause of sudden cardiovascular death during sports performance, a conservative approach implying disqualification of affected athletes from most competitive athletic disciplines is recommended by all the available international guidelines. On the other hand, we know that the health benefits of practicing recreational sports activity can overcome the potential arrhythmic risk in these patients, provided that the type and level of exercise are tailored on the basis of the specific risk profile of the underlying cardiomyopathy. This article will review the available evidence on the sports-related risk of sudden cardiac death and the recommendations regarding eligibility of individuals affected by inherited cardiomyopathies for sports activities.

  14. Scintigraphic assessment of cardiac sympathetic innervation with I-123-metaiodobenzylguanidine in cardiomyopathy. Special reference to cardiac arrhythmia

    Energy Technology Data Exchange (ETDEWEB)

    Asano, Takahisa; Otsuka, Nobuaki; Sone, Teruki; Mimura, Hiroaki; Yanagimoto, Shinichi; Tomomitsu, Tatsushi; Fukunaga, Masao [Kawasaki Medical School, Kurashiki, Okayama (Japan); Morita, Koichi

    1999-07-01

    Cardiac sympathetic imagings with I-123-metaiodobenzylguanidine (MIBG) were carried out in 5 cases with dilated cardiomyopathy (DCM), 26 cases with hypertrophic cardiomyopathy (HCM), and 4 cases without cardiac disease as a control to assess cardiac sympathetic innervation qualitatively and quantitatively, and to clarify the relation of MIBG accumulation to arrhythmia. MIBG scintigraphy was performed at 15 min. (early image) and 4 hr. (delayed image) after intravenous injection of MIBG 111 MBq. The MIBG uptake ratio of mediastinum (H/M) and the cardiac washout rate (WR) from early to delayed images were calculated. On both early and delayed SPECTs, MIBG uptake was assessed by defect scores (DSs). Regarding the cases with HCM, the MIBG uptake ratio, WR, and DS were also compared in cases with and without arrhythmia. In DCM, the MIBG uptake on delayed SPECT was markedly low, the H/M ratio was significantly lower, and the DS was significantly higher than in the control (all p<0.05). As for the WR, there was no significant difference between HCM, DCM and the control. In HCM, significantly reduced MIBG uptake was observed in cases with ventricular techycardia (VT) and in cases with atrial fibrillation (Af), as compared with cases without arrhythmia (all p<0.05). There results suggest that MIBG scintigraphy might be a useful tool in the assessment of cardiac sympathetic abnormalities in cardiomyopathy, especially in cases with arrhythmia. (author)

  15. Echomorphology of cardiomyopathy: review of 217 cases from 1999 to 2010

    International Nuclear Information System (INIS)

    Ilyas, S.; Ilyas, H.; Fawad, A.; Hameed, A.; Fazli, A.

    2013-01-01

    Objective: To study echocardiogram features of different types of cardiomyopathy presenting over a 12 year period at a single centre in Peshawar. Methods: The series comprised a retrospective review of 13,788 consecutive echocardiograms carried out at the Muhammadi Hospital International Medical Research Centre, Hayatabad, Peshawar, from January 1999 to December 2010. Patients were split into two: Group I with paediatric and adolescent cases (0-18 years) and Group II with adults (>18 years). In the adult group, women with peripartum cardiomyopathy were subdivided into two groups of 18-30 years and 30 to 44 years. Standard Echo B and M modes and Doppler parameters were recorded to ascertain the diagnoses of common primary and secondary cardiomyopathies. Patients with myocarditis with chambers dilatation and global dysfunction, and cardiopathy associated with major cardiovascular diseases were excluded. SPSS 14 was used for statistical analysis. Results: Cardiomyopathy was diagnosed in 217 (1.57%) cases. There were 144 (66%) cases of dilated cardiomyopathy with a mean age of 13+-14.8 years; 17 (8%) cases of hypertrophic cardiomyopathy with a mean age of 12+-11.5 years; and 7 (3%) cases of restrictive cardiomyopathy with a mean age of 31+-7.8 years. Primary cardiac amyloidosis was confirmed in 9 (4%) cases, and peripartum cardiomyopathy in 25 (11%) females. Rare subtypes were found in 15 (7%) cases. Conclusion: DCM was the most frequently diagnosed subtype of cardiomyopathy followed by HCM in both the adult and paediatric age groups. (author)

  16. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants

    DEFF Research Database (Denmark)

    Andreasen, Charlotte Hartig; Nielsen, Jonas B; Refsgaard, Lena

    2013-01-01

    Cardiomyopathies are a heterogeneous group of diseases with various etiologies. We focused on three genetically determined cardiomyopathies: hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). Eighty-four genes have so far been associated with these card......Cardiomyopathies are a heterogeneous group of diseases with various etiologies. We focused on three genetically determined cardiomyopathies: hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC). Eighty-four genes have so far been associated...... with these cardiomyopathies, but the disease-causing effect of reported variants is often dubious. In order to identify possible false-positive variants, we investigated the prevalence of previously reported cardiomyopathy-associated variants in recently published exome data. We searched for reported missense and nonsense...... variants in the NHLBI-Go Exome Sequencing Project (ESP) containing exome data from 6500 individuals. In ESP, we identified 94 variants out of 687 (14%) variants previously associated with HCM, 58 out of 337 (17%) variants associated with DCM, and 38 variants out of 209 (18%) associated with ARVC...

  17. Anestesia para salpingectomia parcial bilateral em paciente com miocardiopatia hipertrófica idiopática: relato de um caso e revisão da literatura Anestesia para salpingectomía parcial bilateral en paciente con miocardiopatía hipertrófica idiopática: relato de un caso y revisión del literatura Anesthesia for partial bilateral salpingectomy in a patient with idiopathic hypertrophic cardiomyopathy: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Ana Sofia Del Castillo Sardi

    2010-02-01

    ón autosómica dominante que se caracteriza por hipertrofia del septum ventricular y anormalidades de la válvula mitral. RELATO DEL CASO: Paciente segundigesta, 25 años con diagnóstico de cardiomiopatía hipertrófica hace 4 años e antecedente de asma bronquial leve intermitente controlada con inhalaciones esporádicas de corticoesteroides. Presentaba soplo holosistólico IV/VI plurifocal e importante escoliosis, con los espacios intervertebrales palpables. Refirió palpitaciones esporádicas durante todo el embarazo y se encontraba medicada con 100 mg de atenolol diarios. Presentaba hemograma, creatinina y electrolitos dentro de los límites normales, ecocardiograma que reportaba cardiomiopatía hipertrófica de predominio septal con fracción de eyección sistólica del 76%. La paciente entró en labor de parto de urgencia, obteniéndose producto femenino vivo, APGAR 9/9, sin complicaciones hemodinámicas maternas ni fetales. Se programa para la realización de salpingectomía parcial bilateral. Se entrevista a la paciente, la cual nos refirió que se rehusaba a recibir anestesia general para el procedimiento. La técnica anestésica elegida fue la regional combinada. El procedimiento quirúrgico duró 20 minutos, y los cambios de presión arterial y frecuencia cardíaca fue menos del 10% que el de los valores iniciales, sin complicaciones hemodinámicas ni quirúrgicas inmediatas. CONCLUSIONES: La mortalidad absoluta materna con cardiomiopatia hipertrófica (CH es muy baja y suele estar confinada a mujeres con factores de alto riesgo. No hay evidencia que la anestesia regional aumenta el riesgo en mujeres con CH cuando se utiliza para el parto vaginal. Tanto la anestesia general como regional han sido utilizado con éxito y sin complicaciones en cesáreas de parturientas con CH.BACKGROUND AND OBJECTIVES: Hypertrophic cardiomyopathy is a rare, autosomal dominant cardiac disorder characterized by hypertrophy of the interventricular septum and mitral valve

  18. Th17-related cytokines in systemic lupus erythematosus patients with dilated cardiomyopathies: a possible linkage to parvovirus B19 infection.

    Directory of Open Access Journals (Sweden)

    Der-Yuan Chen

    Full Text Available Dilated cardiomyopathies (DCM are a major cause of mortality in patients with systemic lupus erythematosus (SLE. Immune responses induced by human parvovirus B19 (B19 are considered an important pathogenic mechanism in myocarditis or DCM. However, little is known about Th17-related cytokines in SLE patients with DCM about the linkage with B19 infection. IgM and IgG against B19 viral protein, and serum levels of Th17-related cytokines were determined using ELISA in eight SLE patients with DCM and six patients with valvular heart disease (VHD. Humoral responses of anti-B19-VP1u and anti-B19-NS1 antibody were assessed using Western blot and B19 DNA was detected by nested Polymerase Chain Reaction (PCR. Levels of interleukin (IL-17, IL-6, IL-1β, and tumor necrosis factor (TNF-α were significantly higher in SLE patients with DCM (mean ± SEM, 390.99±125.48 pg/ml, 370.24±114.09 pg/ml, 36.01±16.90 pg/ml, and 183.84±82.94 pg/ml, respectively compared to healthy controls (51.32±3.04 pg/ml, p<0.001; 36.88±6.64 pg/ml, p<0.001; 5.39±0.62 pg/ml, p<0.005; and 82.13±2.42 pg/ml, p<0.005, respectively. Levels of IL-17 and IL-6 were higher in SLE patients with DCM versus those with VHD (both p<0.01. Five (62.5% of DCM patients had detectable anti-B19-NS1 IgG and four (50.0% of them had anti-B19-VP1u IgG, whereas only one (16.7% of VHD patients had detectable anti-B19-NS1 IgG and anti-B19-VP1u IgG. Serum levels of IL-17, IL-6 and IL-1β were markedly higher in SLE patients with anti-B19-VP1u IgG and anti-B19-NS1 IgG compared to those without anti-B19-VP1u IgG or anti-B19-NS1 IgG, respectively. These suggest a potential association of B19 with DCM and Th17-related cytokines implicated in the pathogenesis of DCM in SLE patients.

  19. Th17-Related Cytokines in Systemic Lupus Erythematosus Patients with Dilated Cardiomyopathies: A Possible Linkage to Parvovirus B19 Infection

    Science.gov (United States)

    Chen, Der-Yuan; Chen, Yi-Ming; Lan, Joung-Liang

    2014-01-01

    Dilated cardiomyopathies (DCM) are a major cause of mortality in patients with systemic lupus erythematosus (SLE). Immune responses induced by human parvovirus B19 (B19) are considered an important pathogenic mechanism in myocarditis or DCM. However, little is known about Th17-related cytokines in SLE patients with DCM about the linkage with B19 infection. IgM and IgG against B19 viral protein, and serum levels of Th17-related cytokines were determined using ELISA in eight SLE patients with DCM and six patients with valvular heart disease (VHD). Humoral responses of anti-B19-VP1u and anti-B19-NS1 antibody were assessed using Western blot and B19 DNA was detected by nested Polymerase Chain Reaction (PCR). Levels of interleukin (IL)-17, IL-6, IL-1β, and tumor necrosis factor (TNF)-α were significantly higher in SLE patients with DCM (mean ± SEM, 390.99±125.48 pg/ml, 370.24±114.09 pg/ml, 36.01±16.90 pg/ml, and 183.84±82.94 pg/ml, respectively) compared to healthy controls (51.32±3.04 pg/ml, pB19-NS1 IgG and four (50.0%) of them had anti-B19-VP1u IgG, whereas only one (16.7%) of VHD patients had detectable anti-B19-NS1 IgG and anti-B19-VP1u IgG. Serum levels of IL-17, IL-6 and IL-1β were markedly higher in SLE patients with anti-B19-VP1u IgG and anti-B19-NS1 IgG compared to those without anti-B19-VP1u IgG or anti-B19-NS1 IgG, respectively. These suggest a potential association of B19 with DCM and Th17-related cytokines implicated in the pathogenesis of DCM in SLE patients. PMID:25462010

  20. TREATMENT OF PERIPARTUM CARDIOMYOPATHY (REVIEW

    Directory of Open Access Journals (Sweden)

    N. T. Vatutin

    2017-01-01

    Full Text Available The presented review concerns discussion about current insights into treatment of peripartum cardiomyopathy. The definition of peripartum cardiomyopathy and general issues about diagnosis and pathogenesis of the disorder are provided at the head of the review. Particularly, the role of the system «prolactin — cathepsin D — prolactin 16 kDa» in cardiomyopathy development is disclosed. The general approaches to management of the patients are highlighted. The review provides detailed data about indications, adverse effects and derived clinical experience concerning the main pharmacological drugs which had been used in peripartum cardiomyopathy treatment given their possible unfavorable influence on fetus maturation and maternal lactation. The detailed description is provided on diuretics including loop, thiazide and potassium-sparing drugs. It was noted relative safety and efficiency of nitrates and hydralazine in conditions of limited choice from vasodilator group and, particularly, angiotensinconverting-enzyme inhibitors and angiotensin-II receptor blockers which are contraindicated in pregnancy. A special attention is paid to the group of inotropic drugs: levosimendan, milrinone, and cardiac glycosides. The role of β-blockers and ivabradine is disclosed in heart failure treatment of peripartum cardiomyopathy. Anticoagulants were presented in details given that these drugs are justified in severe cardiac chambers dilation, decrease in ejection fraction, and in presence of intracardiac thrombosis. The place of antiarrhythmic drugs administrating in various cardiac rhythm disorders is discussed in the review. The data is given with account of potential influence on fetus in antenatal peripartum cardiomyopathy in which lidocaine and sotalol are the most preferable drugs; adenosine, quinidine, and flecainide are useful with caution, but amiodarone and dronedarone are absolutely contraindicated. Taking into account proposed pathogenic

  1. Low density lipoprotein receptor-related protein 1 expression correlates with cholesteryl ester accumulation in the myocardium of ischemic cardiomyopathy patients

    Directory of Open Access Journals (Sweden)

    Cal Roi

    2012-08-01

    Full Text Available Abstract Our hypothesis was that overexpression of certain lipoprotein receptors might be related to lipid accumulation in the human ischemic myocardium. Intramyocardial lipid overload contributes to contractile dysfunction and arrhythmias in cardiomyopathy. Thus, the purpose of this study was to assess the effect of hypercholesterolemic LDL and hypertrigliceridemic VLDL dose on LRP1 expression in cardiomyocytes, as well as the potential correlation between LRP1 expression and neutral lipid accumulation in the left ventricle tissue from ischemic cardiomyopathy patients. Cell culture experiments include control and LRP1-deficient cardiomyocytes exposed to lipoproteins under normoxic and hypoxic conditions. Explanted hearts from 18 ICM patients and eight non-diseased hearts (CNT were included. Low density lipoprotein receptor-related protein 1 (LRP1, very low density lipoprotein receptor (VLDLR and low density lipoprotein receptor (LDLR expression was analyzed by real time PCR and Western blotting. Cholesteryl ester (CE, triglyceride (TG and free cholesterol (FC content was assess by thin layer chromatography following lipid extraction. Western blotting experiments showed that protein levels of LRP1, VLDLR and HIF-1α were significantly upregulated in ischemic hearts. Immunohistochemistry and confocal microscopy analysis showed that LRP1 and HIF-1α were upregulated in cardiomyocytes of ICM patients. In vitro studies showed that VLDL, LDL and hypoxia exerted an upregulatory effect on LRP1 expression and that LRP1 played a major role in cholesteryl ester accumulation from lipoproteins in cardiomyocytes. Myocardial CE accumulation strongly correlated with LRP1 levels in ischemic hearts. Taken together, our results suggest that LRP1 upregulation is key for myocardial cholesterol ester accumulation in ischemic human hearts and that LRP1 may be a target to prevent the deleterious effects of myocardial cholesterol accumulation in ischemic cardiomyopathy.

  2. Host gut-derived probiotic bacteria promote hypertrophic muscle progression and upregulate growth-related gene expression of slow-growing Malaysian Mahseer Tor tambroides

    Directory of Open Access Journals (Sweden)

    Md Asaduzzaman

    2018-02-01

    Full Text Available In modern aquaculture, dietary supplementation of probiotics is a novel approach for enhancing growth performance of slow-growing fish. However, the actual role of probiotics in regulating muscle growth at cellular and molecular levels in fish still needs to be clarified. In this study, we hypothesized that host gut derived probiotic bacteria would enhance cellular muscle growth, and upregulate growth-related gene expression in slow-growing Malaysian mahseer Tor tambroides. Therefore, three host-associated probiotics (Bacillus sp. AHG22, Alcaligenes sp. AFG22, and Shewanella sp. AFG21 were isolated from the gastro-intestinal tract of T. tambroides and screened based on their digestive enzyme activity. A fishmeal and casein based control diet (40% crude protein and 10% lipid was formulated, and three different probiotic supplemented diets were prepared by immersing the control diet in each isolated host-derived bacteria, suspended in sterile phosphate buffered saline (PBS, to achieve a final concentration of approximately 1.0 × 108 CFU g−1 feed. Triplicate groups of T. tambroides juveniles (initial weight 1.39 ± 0.06 g were stocked in twelve glass aquaria (100 L capacity with stocking density of 20 individuals per aquarium. The feed was applied twice daily at 3.0% of the fish body weight per day for 90 days. Growth performance (weight gain and specific growth rate of T. tambroides juveniles were significantly higher in Alcaligenes sp. AFG22 and Bacillus sp. AHG22 supplemented diet treatments. Muscle morphometric analysis revealed that dietary supplementation of host-associated probiotic bacteria did not influence the frequency distribution of hyperplastic (class 10 small diameter fibers (≤10 μm. However, hypertrophic (Class 50, Class 60 and Class 70 large diameter fibers (>50 μm were significantly higher in Alcaligenes sp. AFG22 and Bacillus sp. AHG22 supplemented treatments, indicating that increased growth rate of T

  3. Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.

    Science.gov (United States)

    Szabadosova, Viktoria; Boronova, Iveta; Ferenc, Peter; Tothova, Iveta; Bernasovska, Jarmila; Zigova, Michaela; Kmec, Jan; Bernasovsky, Ivan

    2018-02-01

    As the leading cause of congestive heart failure, cardiomyopathy represents a heterogenous group of heart muscle disorders. Despite considerable progress being made in the genetic diagnosis of cardiomyopathy by detection of the mutations in the most prevalent cardiomyopathy genes, the cause remains unsolved in many patients. High-throughput mutation screening in the disease genes for cardiomyopathy is now possible because of using target enrichment followed by next-generation sequencing. The aim of the study was to analyze a panel of genes associated with dilated or hypertrophic cardiomyopathy based on previously published results in order to identify the subjects at risk. The method of next-generation sequencing by IlluminaHiSeq 2500 platform was used to detect sequence variants in 16 individuals diagnosed with dilated or hypertrophic cardiomyopathy. Detected variants were filtered and the functional impact of amino acid changes was predicted by computational programs. DNA samples of the 16 patients were analyzed by whole exome sequencing. We identified six nonsynonymous variants that were shown to be pathogenic in all used prediction softwares: rs3744998 (EPG5), rs11551768 (MGME1), rs148374985 (MURC), rs78461695 (PLEC), rs17158558 (RET) and rs2295190 (SYNE1). Two of the analyzed sequence variants had minor allele frequency (MAF)MURC), rs34580776 (MYBPC3). Our data support the potential role of the detected variants in pathogenesis of dilated or hypertrophic cardiomyopathy; however, the possibility that these variants might not be true disease-causing variants but are susceptibility alleles that require additional mutations or injury to cause the clinical phenotype of disease must be considered. © 2017 Wiley Periodicals, Inc.

  4. Animal Models of Congenital Cardiomyopathies Associated With Mutations in Z-Line Proteins.

    Science.gov (United States)

    Bang, Marie-Louise

    2017-01-01

    The cardiac Z-line at the boundary between sarcomeres is a multiprotein complex connecting the contractile apparatus with the cytoskeleton and the extracellular matrix. The Z-line is important for efficient force generation and transmission as well as the maintenance of structural stability and integrity. Furthermore, it is a nodal point for intracellular signaling, in particular mechanosensing and mechanotransduction. Mutations in various genes encoding Z-line proteins have been associated with different cardiomyopathies, including dilated cardiomyopathy, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, restrictive cardiomyopathy, and left ventricular noncompaction, and mutations even within the same gene can cause widely different pathologies. Animal models have contributed to a great advancement in the understanding of the physiological function of Z-line proteins and the pathways leading from mutations in Z-line proteins to cardiomyopathy, although genotype-phenotype prediction remains a great challenge. This review presents an overview of the currently available animal models for Z-line and Z-line associated proteins involved in human cardiomyopathies with special emphasis on knock-in and transgenic mouse models recapitulating the clinical phenotypes of human cardiomyopathy patients carrying mutations in Z-line proteins. Pros and cons of mouse models will be discussed and a future outlook will be given. J. Cell. Physiol. 232: 38-52, 2017. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  5. Lone ventricular cardiomyopathy,

    African Journals Online (AJOL)

    ... (I) cardiac catheterisation, including coronary arteriography and pulmonary ... described existence of lone ventricular idiopathic ... spectrum of classic idiopathic dilated cardiomyopathy. ... endomyocardial fibrosis, and from discussions at an.

  6. Formation of hypertrophic scars: Evolution and susceptibility

    NARCIS (Netherlands)

    Mahdavian Delavary, B.; van der Veer, W.M.; Ferreira, J.A.; Niessen, F.B.

    2012-01-01

    Formation of hypertrophic scars is a common complication of wound healing, and at present little is known about the incidence and risk factors. Our aim was to analyse the incidence, progression, and regression of postoperative hypertrophic scars over time and to identify risk factors of hypertrophic

  7. Anestesia para cesariana em paciente portadora de cardiomiopatia hipertrófica familiar: relato de caso Anestesia para cesária en paciente portadora de cardiomiopatía hipertrófica familiar: relato de caso Anesthesia for cesarean section in a patient with familiar hypertrophic cardiomyopathy: case report

    Directory of Open Access Journals (Sweden)

    Renato Mestriner Stocche

    2007-12-01

    caracterizada por hipertrofia del septo ventricular y grado variable de estenosis aórtica subvalvar. En esa enfermedad, el aumento de la contratilidad del miocardio y la disminución de la resistencia vascular periférica pueden agravar la obstrucción de la vía de salida del VE, produciendo arritmia e isquemia cardiaca. Este relato quiso discutir el manoseo anestésico para cesárea en paciente con CHF. RELATO DEL CASO: Paciente con 33 semanas de embarazo y diagnóstico previo de CHF presentó en el holter de 24 horas 22 episodios de taquicardia ventricular no sustentada (TVNS y 2 episodios de taquicardia ventricular sustentada (TVS. Refería episodios de palpitación, disnea y dolor precordial de corta duración. La paciente fue medicada con atenolol y presentó control de los síntomas y de las arritmias cardiacas. Con 38 semanas y 5 días de embarazo la paciente fue sometida a la cesárea electiva. Además de la habitual monitorización contó con el análisis de segmento ST y presión arterial invasiva. Se utilizó anestesia intradural-epidural con inyección de 5 µg de sunfentanil en la raqui seguida de administración de bupivacaína a 0,375% en dosis de incremento hasta alcanzar una altura de T6 (total de 16 mL. Se usó metaraminol como vasopresor. No hubo hipotensión arterial materna u otras complicaciones en el perioperatorio. CONCLUSIONES: La anestesia general se usa con frecuencia para cesáreas de pacientes con CHF. La anestesia intradural-epidural con instalación lenta del bloqueo fue una alternativa segura. En esas pacientes, el aumento de la contratilidad miocárdica debe ser evitado, y si fuere necesario se debe utilizar un a-agonista para la corrección de hipotensión arterial materna.BACKGROUND AND OBJECTIVES: Familiar Hypertrophic cardiomyopathy (FHC is a rare hereditary cardiac disorder characterized by hypertrophy of the ventricular septum and variable degrees of subvalvular aortic stenosis. In this disease, the increase in myocardial contractility

  8. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    Science.gov (United States)

    ... cardiomyopathy Merck Manual Consumer Version: Cardiomyopathy Merck Manual Consumer Version: Overview of Abnormal Heart Rhythms Orphanet: Arrhythmogenic right ventricular cardiomyopathy Orphanet: Familial isolated arrhythmogenic right ventricular ...

  9. Idiopathic hypertrophic subaortic stenosis. I

    International Nuclear Information System (INIS)

    Kvam, G.

    1980-01-01

    Biplane left ventricular cineangiographies in 4 patients with typical obstructive idiopathic hypertrophic subaortic stenosis (IHSS) and in control patients with normal left ventricles were analysed. In the protruding hypertrophic muscular interventricular septum of IHSS a markedly reduced shortening occurs in either direction during the systolic contraction. It does not bend towards the right ventricle. It is suggested that the septum of IHSS acts as a suspender during the systolic contraction, thereby accounting for the fast stroke volume ejection and the high ejection fraction of IHSS. (Auth.)

  10. Parent reports of health-related quality of life and heart failure severity score independently predict outcome in children with dilated cardiomyopathy.

    Science.gov (United States)

    den Boer, Susanna L; Baart, Sara J; van der Meulen, Marijke H; van Iperen, Gabriëlle G; Backx, Ad P; Ten Harkel, Arend D; Rammeloo, Lukas A; du Marchie Sarvaas, Gideon J; Tanke, Ronald B; Helbing, Willem A; Utens, Elisabeth M; Dalinghaus, Michiel

    2017-08-01

    Dilated cardiomyopathy in children causes heart failure and has a poor prognosis. Health-related quality of life in this patient group is unknown. Moreover, results may provide detailed information of parents' sense of their child's functioning. We hypothesised that health-related quality of life, as rated by parents, and the paediatric heart failure score, as assessed by physicians, have both predictive value on outcome. Methods and results In this prospective study, health-related quality of life was assessed by parent reports: the Infant Toddler Quality of Life questionnaire (0-4 years) or Child Health Questionnaire-Parent Form 50 (4-18 years) at 3-6-month intervals. We included 90 children (median age 3.8 years, interquartile range (IQR) 0.9-12.3) whose parents completed 515 questionnaires. At the same visit, physicians completed the New York University Pediatric Heart Failure Index. Compared with Dutch normative data, quality of life was severely impaired at diagnosis (0-4 years: 7/10 subscales and 4-18 years: 8/11 subscales) and ⩾1 year after diagnosis (3/10 and 6/11 subscales). Older children were more impaired (pFailure Index were independently predictive of the risk of death and heart transplantation (hazard ratio 1.24 per 10% decrease of predicted, 95% confidence interval (CI) 1.06-1.47 and hazard ratio 1.38 per unit, 95% CI 1.19-1.61, respectively). Physical impairment rated by parents and heart failure severity assessed by physicians independently predicted the risk of death or heart transplantation in children with dilated cardiomyopathy.

  11. Atlas of the clinical genetics of human dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Haas, Jan; Frese, Karen S; Peil, Barbara

    2015-01-01

    AIM: Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome...... these limitations and screened all DCM disease genes in a large cohort. METHODS AND RESULTS: In this multi-centre, multi-national study, we have enrolled 639 patients with sporadic or familial DCM. To all samples, we applied a standardized protocol for ultra-high coverage next-generation sequencing of 84 genes...... disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations...

  12. Relation between N-terminal pro-brain natriuretic peptide and cardiac remodeling and function assessed by cardiovascular magnetic resonance imaging in patients with arrhythmogenic right ventricular cardiomyopathy.

    Science.gov (United States)

    Cheng, Huaibing; Lu, Minjie; Hou, Cuihong; Chen, Xuhua; Wang, Jing; Yin, Gang; Chu, Jianmin; Zhang, Shu; Prasad, Sanjay K; Pu, Jielin; Zhao, Shihua

    2015-02-01

    Although N-terminal pro-brain natriuretic peptide (NT-proBNP) is a useful screening test of impaired right ventricular (RV) function in conditions affecting the right-sided cardiac muscle, the role of NT-proBNP remains unclear in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). This study was designed to clarify the relation between the plasma NT-proBNP level and the RV function evaluated by cardiovascular magnetic resonance (CMR) imaging. We selected 56 patients with confirmed ARVC only when their blood specimens for NT-proBNP measurements were collected within 48 hours of a CMR scan. The NT-proBNP level was significantly higher in patients with RV dysfunction than in patients without RV dysfunction (median of 655.3 [interquartile range 556.4 to 870.0] vs 347.0 [interquartile range 308.0 to 456.2] pmol/L, p rights reserved.

  13. Radiation-induced nerve root degeneration and hypertrophic neuropathy in the lumbosacral spinal cord of rats: The relation with changes in aging rats

    International Nuclear Information System (INIS)

    Kogel, A.J. van der

    1977-01-01

    Three-month-old WAG Rij rats were irradiated with 300 kV X-rays on the lumbar region of the spinal column with doses below the level for causing paralysis due to radiation radiculomyelopathy. 8-9 months after irradiation. degeneration of predominantly the ventral nerve roots of the cauda equina was observed. Three stages were distinguishable: I) Demyelination and proliferation of Schwann cells: II) Local swelling of ventral nerve roots, with concentric layers of Schwann cells resembling hypertrophic neuropathy: III) Malignant Schwannoma, invading roots and spinal cord. It is concluded that the degenerative and proliferative lesions represent a continuous series of stages of slowly progressive lesions. The ventral nerve root degeneration (Ist stage) is similar to that observed in aging, unirradiated rats, normally developing at the age of 18-20 months. (orig.) [de

  14. Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.

    Science.gov (United States)

    McNally, Elizabeth M; Puckelwartz, Megan J

    2015-01-01

    With the wider deployment of massively-parallel, next-generation sequencing, it is now possible to survey human genome data for research and clinical purposes. The reduced cost of producing short-read sequencing has now shifted the burden to data analysis. Analysis of genome sequencing remains challenged by the complexity of the human genome, including redundancy and the repetitive nature of genome elements and the large amount of variation in individual genomes. Public databases of human genome sequences greatly facilitate interpretation of common and rare genetic variation, although linking database sequence information to detailed clinical information is limited by privacy and practical issues. Genetic variation is a rich source of knowledge for cardiovascular disease because many, if not all, cardiovascular disorders are highly heritable. The role of rare genetic variation in predicting risk and complications of cardiovascular diseases has been well established for hypertrophic and dilated cardiomyopathy, where the number of genes that are linked to these disorders is growing. Bolstered by family data, where genetic variants segregate with disease, rare variation can be linked to specific genetic variation that offers profound diagnostic information. Understanding genetic variation in cardiomyopathy is likely to help stratify forms of heart failure and guide therapy. Ultimately, genetic variation may be amenable to gene correction and gene editing strategies.

  15. Determinants of Thyrotoxic Cardiomyopathy Recovery

    Directory of Open Access Journals (Sweden)

    Lucia Oliveros-Ruiz

    2013-01-01

    Full Text Available The purpose was to evaluate the effect of the disease duration prior to treatment, thyroid hormones level, or both on the reversibility of dilated cardiomyopathy. Between January 2006 and December 2010, a longitudinal study with a 6 months follow-up was carried on. One hundred and seventy patients with hyperthyroidism were referred to the cardiologist, and 127 had a 6 months followup after antithyroid treatment and were evaluated by echocardiography. Dilated cardiomyopathy reversibility criteria were established according to echocardiographic parameters. Complete reversibility existed when all parameters were met, partial reversibility when LVEF was ≥55% plus two or three other parameters, and no reversibility when LVEF was ≤55% regardless of other parameters. The results showed that echocardiography parameters related to the regression of myocardial mass were associated with a disease duration shorter than 10.38 months. This was the main predictive variable for reversal of dilated cardiomyopathy, followed by β-blocker treatment, and the last predictive variable was the serum level of free triiodothyronine. This study showed that the effect on the myocardium related to thyrotoxicosis was associated with the disease duration before treatment.

  16. A predictive model for canine dilated cardiomyopathy-a meta-analysis of Doberman Pinscher data.

    Science.gov (United States)

    Simpson, Siobhan; Edwards, Jennifer; Emes, Richard D; Cobb, Malcolm A; Mongan, Nigel P; Rutland, Catrin S

    2015-01-01

    Dilated cardiomyopathy is a prevalent and often fatal disease in humans and dogs. Indeed dilated cardiomyopathy is the third most common form of cardiac disease in humans, reported to affect approximately 36 individuals per 100,000 individuals. In dogs, dilated cardiomyopathy is the second most common cardiac disease and is most prevalent in the Irish Wolfhound, Doberman Pinscher and Newfoundland breeds. Dilated cardiomyopathy is characterised by ventricular chamber enlargement and systolic dysfunction which often leads to congestive heart failure. Although multiple human loci have been implicated in the pathogenesis of dilated cardiomyopathy, the identified variants are typically associated with rare monogenic forms of dilated cardiomyopathy. The potential for multigenic interactions contributing to human dilated cardiomyopathy remains poorly understood. Consistent with this, several known human dilated cardiomyopathy loci have been excluded as common causes of canine dilated cardiomyopathy, although canine dilated cardiomyopathy resembles the human disease functionally. This suggests additional genetic factors contribute to the dilated cardiomyopathy phenotype.This study represents a meta-analysis of available canine dilated cardiomyopathy genetic datasets with the goal of determining potential multigenic interactions relating the sex chromosome genotype (XX vs. XY) with known dilated cardiomyopathy associated loci on chromosome 5 and the PDK4 gene in the incidence and progression of dilated cardiomyopathy. The results show an interaction between known canine dilated cardiomyopathy loci and an unknown X-linked locus. Our study is the first to test a multigenic contribution to dilated cardiomyopathy and suggest a genetic basis for the known sex-disparity in dilated cardiomyopathy outcomes.

  17. What Is Cardiomyopathy?

    Science.gov (United States)

    ... underlying conditions, such as diabetes and high blood pressure . Cardiomyopathy often runs in families. Your doctor may suggest that your parents, brothers and sisters, and children get checked to see whether they have the ...

  18. FACTORS INFLUENCING THE OCCURRENCE OF HYPERTROPHIC SCARS AMONG POSTOPERATIVE PATIENTS IN GARUT, INDONESIA

    Directory of Open Access Journals (Sweden)

    Andri Nugraha

    2017-02-01

    Full Text Available Background: Hypertrophic scar causes physical and psychological problems. Thus understanding the factors related to the occurrence of hypertrophic scar tissue is needed. Little is known about its influencing factors in Indonesia, especially in Garut. Objective: This study aims to examine the relationships between hypertrophic scar and its influencing factors, and identify the most dominant factor of the occurrence of hypertrophic scars. Methods: This was an observational case control study using retrospective approach in Polyclinic of Surgery of Regional Public Hospital of dr. Slamet of Garut Regency. There were 40 samples recruited in this study by purposive sampling, which was divided to be case group (20 patients and control group (20 patients. Data were collected using Stony Brook Scar Evaluation Scale by observation and documentation of the medical records of patients. Data were analyzed using logistic regression analysis Results: Findings indicated that there were significant relationships between the surgical wound infection (p = 0.02, family history (p = 0.026, and type of suture (p = 0.043 with the occurrence of hypertrophic scars. The most dominant factor on the occurrence of hypertrophic scars was type of suture, acid polyglactin 910. The variables that had no significant relationships with the occurrence of hypertrophic scar tissue were age (p = 0.34, area of surgical wound (p = 0.177, and smoking habit (p = 0.479. Conclusion: There were significant relationships between infection of surgical wound, genetic history, the type of suture, and the occurrence of hypertrophic scar tissue. The most dominant factor that influenced the occurrence of hypertrophic scar tissue was the type of suture. Therefore, it is suggested to health professionals to modify the using of acid polyglactin 910 sutures, and nurses particularly need to provide the information regarding the family history and genetic-related hypertrophic scar, and prevent the

  19. [Role and related mechanism of S1P/S1P1 signal pathway during post conditioning of hypertrophic cardiomyocytes].

    Science.gov (United States)

    Bao, X H; Li, H X; Tao, J; Li, X M; Yang, Y N; Ma, Y T; Chen, B D

    2016-05-24

    To study the role and mechanism of sphingosine-1-phosphate (S1P)/ sphingosine-1-phosphate receptor 1(S1P1) signal pathway during post conditioning of hypertrophic cardiomyocytes. Neonatal rat cardiomyocytes were isolated and cultured, then stimulated by norepinephrine (NE) to induce cardiomyocytes hypertrophy. Using tri-gas incubator to create hypoxia and reoxygenation enviroment to mimic ischemia-reperfusion and postconditioning. Hypertrophic cardiomyoctyes were divided into five groups according to the presence or absence of various drugs and postconditiong and relevant signal pathways changes were detected: (1) IPost group (hypoxia+ postconditioning); (2) IPost+ S1P group (cells were pretreated with S1P (1 μmol/L) for 2 h before IPost); (3) IPost+ W-146+ S1P group (cells in IPost+ W-146+ S1P group were pretreated with S1P1 inhibitor W-146 (0.4 μmol/L) for 20 min); (4) IPost+ PD98059+ S1P group (cells in IPost+ S1P group were pretreated with MAPK antagonist PD98059 (125 μmol/L) for 20 min); (5) IPost+ LY-294002+ S1P group (cells in IPost+ S1P group were pretreated with PI3K antagonist LY294002 (0.1 μmol/L) for 20 min). Apoptosis was detected by flow cytometry and protein expression of relevant signal pathways were detected by Western blot. (1)Apoptosis rate was significantly increased in hypoxia/reoxygenation (27.90±4.49)% group compared with normal control group (7.97±2.18)%, which could be significantly reduced in IPost group (15.90±1.77)% (all PS1P and IPost+ S1P+ LY-294002 groups than in IPost and IPost+ S1P+ W-146 and IPost+ S1P+ PD98059 group (all PS1P and IPost+ S1P+ LY-294002 group than in IPost and IPost+ S1P+ W-146 group and IPost+ S1P+ PD98059 group (all PS1P+ W-146 and IPost+ S1P+ PD98059 groups. p-ERK1/2 and p-Akt levels in IPost+ S1P+ W-146 group and IPost+ S1P+ PD98059 were similar as in IPost group. S1P can play protective role on NE induced cardiomyocytes hypertrophy during post conditioning through downregulating caspase-3 expression and

  20. Oxidative Stress Markers and C-Reactive Protein Are Related to Severity of Heart Failure in Patients with Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Celina Wojciechowska

    2014-01-01

    Full Text Available Background. The aim of study was to determine relationships between functional capacity (NYHA class, left ventricle ejection fraction (LVEF, hemodynamic parameters, and biomarkers of redox state and inflammation in patients with dilated cardiomyopathy (DCM. Methods. DCM patients (n=109, aged 45.97±10.82 years, NYHA class IIV, and LVEF 2.94±7.1% were studied. Controls comprised age-matched healthy volunteers (n=28. Echocardiography and right heart catheterization were performed. Serum activities of superoxide dismutase isoenzymes (MnSOD and CuZnSOD, concentrations of uric acid (UA, malondialdehyde (MDA, and C-reactive protein (hs-CRP were measured. Results. MnSOD, UA, hs-CRP, and MDA were significantly higher in DCM patients compared to controls. Except MDA concentration, above parameters were higher in patients in III-IV NYHA class or with lower LVEF. hsCRP correlated with of MnSOD (P<0.05 and CuZnSOD activity (P<0.01. Both isoenzymes positively correlated with mPAP and pulmonary capillary wedge pressure (MnSOD, resp., P<0.01 and P<0.05 and CuZnSOD P<0.05; P<0.05. UA positively correlated with MnSOD (P<0.05, mPAP (P<0.05, and PVRI (P<0.05. The negative correlation between LVEF and UA (P<0.01 was detected. Conclusion. There are relationships among the severity of symptoms of heart failure, echocardiographic hemodynamic parameters, oxidative stress, and inflammatory activation. Increased MnSOD activity indicates the mitochondrial source of ROS in patients with advanced heart failure.

  1. Hypertrophic osteopathy and megaoesophagus in a cat.

    Science.gov (United States)

    Mills, J

    2010-01-01

    A case of hypertrophic osteopathy in a stray cat is reported. It was not known how long periosteal proliferation had been present prior to the time of first presentation. A few months later, megaoesophagus became apparent. Computer tomography was performed at least 18 months after periosteal proliferation had first become evident, but an underlying neoplasia was not identifed in association with the hypertrophic osteopathy. The hypertrophic osteopathy and the megaoesophagus were both successfully medically managed, and the cat continued to do well 33 months after the hypertrophic osteopathy was first evident.

  2. Cardiomyopathies as a Cause of Sudden Cardiac Death (SCD in Egypt: Recognition and Preventive Strategies Needed

    Directory of Open Access Journals (Sweden)

    Nora Fnon

    2016-06-01

    Full Text Available This study aimed at evaluating the epidemiological characteristics and pathological features of different types of cardiomyopathies in Egypt, highlighting the role of the forensic pathologist in identifying cases of cardiomyopathies and initiating for their families a possible genetic study aiming at prevention of sudden death. All cases with sudden cardiac death (SCD due to cardiomyopathies during the period from the beginning of January 2010 until the end of December 2014 (5 years were included in this study. All hearts underwent detailed gross and histological examination. Circumstances of death, medical history, and post-mortem pathological findings were thoroughly  investigated. Out of 535 cases of sudden cardiac death, there were 22 cases (4.1% diagnosed as having cardiomyopathies; sudden death was their first presentation. Eighteen cases (81.8% were male, with the 4th decade (11 cases, 50% being the most affected age; severe physical activity and exertion were evident in death circumstances of 14 cases (63.6%; pathological evaluation revealed that hypertrophic cardiomyopathy was the most frequent type, being diagnosed in 10 cases (45%. Cardiomyopathies are an infrequent cause of sudden cardiac death. Most deaths are in children and adults, so cases are of high social impact that demands multidisciplinary research and resources. In all cases of SCD, forensic autopsy should be done. Forensic study is the key to identifying an affected family and the starting point regarding assessing them.

  3. Takotsubo cardiomyopathy following subarachnoid hemorrhage

    International Nuclear Information System (INIS)

    Wajnberg, Eduardo

    2012-01-01

    Takotsubo cardiomyopathy corresponds to a syndrome characterized by a transient myocardial dysfunction affecting the left ventricular apex that classically occurs after major physical or emotional stress (also called 'broken heart syndrome' or 'stress-induced cardiomyopathy'). The author describes the case of a patient with takotsubo cardiomyopathy induced by subarachnoid hemorrhage. (author)

  4. Acromegaly-induced cardiomyopathy with dobutamine-induced outflow tract obstruction.

    Science.gov (United States)

    Abdelsalam, Mahmoud A; Nippoldt, Todd B; Geske, Jeffrey B

    2016-03-09

    A 50-year-old man with a history of acromegaly was referred for preoperative cardiac evaluation preceding trans-sphenoidal resection of a pituitary macroadenoma. Dobutamine stress echocardiography was negative for myocardial ischaemia. Resting left ventricular (LV) LV ejection fraction (LVEF) was 64% and there was hypertrophy of ventricular septum (18 mm) without resting LV outflow tract obstruction. With 40 µg/kg/min of dobutamine, the LVEF became hyperdynamic at 80%, and there was a maximal instantaneous LV outflow tract gradient of 77 mm Hg. There was no delayed myocardial enhancement on cardiac MRI and the pattern of hypertrophy was concentric. Acromegaly-induced cardiomyopathy can mimic hypertrophic cardiomyopathy in the setting of dobutamine provocation. Because cardiomyopathy is an important cause of mortality in acromegaly, diagnosis and appropriate management are critical to improve survival. 2016 BMJ Publishing Group Ltd.

  5. Radiology and pathology correlation in common infiltrative cardiomyopathies

    International Nuclear Information System (INIS)

    Varzeshi, Neda; Hansen, Mark; Rezaee, Amir; Slaughter, Richard; Dixon, Natalie; Duhig, Edwina

    2012-01-01

    Infiltrative cardiomyopathies generally pose a diagnostic dilemma as current diagnostic tools are imprecise. Invasive endomyocardial biopsy is considered as the gold standard however it has some limitations. Recently cardiovascular magnetic resonance (CMR) is emerging as an excellent technique in diagnosing infiltrative cardiomyopathies and is increasingly being used. Characteristic pathologic and radiologic findings in most common infiltrative cardiomyopathies (amyloid, sarcoid and Fabry's) are discussed and correlated with relative CMR and histologic examples. There is fairly good correlation between the non-invasive radiologic and the invasive histologic findings in common infiltrative cardiomyopathies. Non-invasive CMR with its high sensitivity and specificity has an excellent role in establishing the diagnosis and improving the prognosis of common infiltrative cardiomyopathies.

  6. Hypertrophic Pyloric stenosis: Pre- and post-operative sonographic findings

    International Nuclear Information System (INIS)

    Park, Joung Suk; Han, Douk Sub; Oh, Jong Sub; Kim, Min Jung; Gi, Joo Yun; Park, Byung Ran; Kim, Se Jong; Koh, Kang Suk; Kim, Byung Kun

    1993-01-01

    The authors retrospectively analysed the ultrasonographic findings of 43 cases of surgically confirmed hypertrophic pyloric stenosis and their postoperative findings of sonograms taken at 1 month(n=40) or 3 month(n=5) after pyloromyotomy. In preoperative study, the thickened pyloric muscle was isoechoic or slight hypoechoic relative to liver on the midline longitudinal view and appeared as a 'nonuniform acoustic ring' on the transverse view. The results of measurement in the all cases with hypertrophic pyloric stenosis were the pyloric muscle thickness ≥ 3.8 mm, the pyloric diameter ≥ 14 mm, the pyloric channel length ≥ 16 mm, the pyloric muscle volume ≥ 2.21 cm 3 and the pyloric muscle index ≥ 0.57, respectively. It usually required 1 month after operation for the hypertrophied muscle to resolve in 36 of 41 patients. The normalized pyloric muscle appeared more hypoechoic than that of adjacent parenchyma, and the nonuniform echogenicity of the pyloric muscle disappeared. Five patients whose hypertrophied muscle did not return to normal range on 1 month's follow-up sonogram were follow-up 3 months later again, and we have ascertained their resolution in all of them. In conclusion, the pre-operative sonographic findings of infantile hypertrophic pyloric stenosis were different quantitatively and qualitatively from of those of post-operative follow-up ultrasound exam. High-resolution real time sonography is a safe and accurate method for the diagnosis of hypertrophic pyloric stenosis and useful in postpyloromyotomy follow-up

  7. Responsiveness of cardiodynamics to exercise loading in normal subjects and in patients with idiopathic cardiomyopathy

    International Nuclear Information System (INIS)

    Fukuoka, Yukie; Matsuda, Takeshi

    1996-01-01

    In the present study, we examined the responses of the left ventricular systolic function and diastolic function to exertion by cardiac blood pool scintigraphy using 99mTc in reference to changes with aging and changes in the cases of idiopathic cardiomyopathy. In order to study the functional response with aging to exertion, 38 normal subjects were divided by age. Subsequently, 28 hypertrophic cardiomyopathy cases (Group H), 13 dilated cardiomyopathy cases (Group D) and 14 normal cases (Group N) were studied. Ejection Fraction (EF) and Peak Ejection Rate (PER) were used as the indicators for the systolic function. Peak Filling Rate (PER), 1/3 Filling Rate (1/3FR) and Time to Peak Filling (TPF) were used as the indicators for the diastolic function. When comparison was made among the normal subjects by age, the systolic function and diastolic function at rest, varied as they were, showed no significant change with aging. The %delta EF and %delta PER tended to decrease linearly with aging (Y=-4E-X+28, p<0.0001; Y=-X+57, p<0.0001). As to the %delta PFR, %delta 1/3FR and %delta TPF, however, correlation with aging was not found. In comparing hypertrophic cardiomyopathy and dilated cardiomyopathy, Group D showed significantly lower values before exertion and after maximum exertion than the other two groups. A difference in the response of the systolic function and diastolic function to exertion was noted in both the comparative study on aging of the normal subjects and the study of cases of cardiomyopathy. The presence of the compensatory mechanism due to elevation of the left atrial pressure and an increase in the left atrial contractile power may be mentioned as a reservoir of blood and also as a booster pump. Particularly, the effect of the latter compensates for the decline in the left ventricular compliance, which may lead to the maintenance of the diastolic function. (K.H.)

  8. Pacing-induced Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Alex Koo

    2017-10-01

    Full Text Available We present a case of pacing-induced cardiomyopathy. The patient presented with clinical symptoms of dyspnea, leg swelling, and orthopnea several months after a dual-chambered pacemaker was placed for third-degree heart block. The echocardiogram demonstrated a depressed ejection fraction. Coronary angiography was performed, which showed widely patent vessels. Single- and dual-chambered pacemakers create ventricular dyssynchrony, which in turn can cause structural, molecular changes leading to cardiomyopathy. With early intervention of biventricular pacemaker replacement, these changes can be reversible; thus, a timely diagnosis and awareness is warranted.

  9. Cardiomyopathy induced by anthracycline

    International Nuclear Information System (INIS)

    Quiroz, Isabel; Espinoza, Gerson; Poveda, Maria; Flores, Walter

    2002-01-01

    Anthracycline cardiomyopathy is less frequently encountered nowadays, due to the well recognized dose limitations and cardiac monitoring protocols used by chemotherapy centers. However, it is a condition that will persist due to the sensitivity of some patients to these drugs and the necessity for large doses to be used for certain individuals. We have demonstrated the benefit of angiotensin converting enzyme inhibitor therapy and would consider introducing these compounds at the earliest opportunity. The use of probucol and vitamins as antioxidants capable of preventing the onset of cardiomyopathy in humans appears to require further investigation but may significantly reduce the incidence of this condition in the future. (The author)

  10. Takotsubo cardiomyopathy in the case of 72-year-old teacher after work-related psychological stress. Evolution of left ventricular longitudinal strain - Delayed but complete recovery in automated function imaging (AFI).

    Science.gov (United States)

    Wierzbowska-Drabik, Karina; Marcinkiewicz, Andrzej; Hamala, Piotr; Trzos, Ewa; Lipiec, Piotr; Kurpesa, Małgorzata; Kręcki, Radosław; Plewka, Michał; Kasprzak, Jarosław D

    2017-06-19

    Takotsubo cardiomyopathy (TC) is related to a transient systolic dysfunction of left ventricle (LV), accompanied by clinical and electrocardiographic symptoms of myocardial ischemia in the absence of hemodynamically significant coronary artery disease. Takotsubo cardiomyopathy is usually provoked by a psychologically or/and physically stressful event which may be related to occupational activities. Although visually assessed evolution of LV function is well documented, the data concerning strain changes is sparse and various patterns of deformation abnormalities are suggested. We have described a 72-year-old woman with chest pain related to a lecture given at the meeting of the Senior University, fulfilling all the Mayo Clinic criteria of the TC. The longitudinal strain analysis with automated function imaging (AFI) documented severe impairment and stepwise recovery of regional and global LV contractility. The case described confirms that accurate diagnosis, treatment and documenting of functional improvement in takotsubo cardiomyopathy may enable the return to occupational activities even for elderly persons. Int J Occup Med Environ Health 2017;30(4):681-683. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  11. Takotsubo cardiomyopathy in the case of 72-year-old teacher after work-related psychological stress. Evolution of left ventricular longitudinal strain – Delayed but complete recovery in automated function imaging (AFI

    Directory of Open Access Journals (Sweden)

    Karina Wierzbowska-Drabik

    2017-08-01

    Full Text Available Takotsubo cardiomyopathy (TC is related to a transient systolic dysfunction of left ventricle (LV, accompanied by clinical and electrocardiographic symptoms of myocardial ischemia in the absence of hemodynamically significant coronary artery disease. Takotsubo cardiomyopathy is usually provoked by a psychologically or/and physically stressful event which may be related to occupational activities. Although visually assessed evolution of LV function is well documented, the data concerning strain changes is sparse and various patterns of deformation abnormalities are suggested. We have described a 72-year-old woman with chest pain related to a lecture given at the meeting of the Senior University, fulfilling all the Mayo Clinic criteria of the TC. The longitudinal strain analysis with automated function imaging (AFI documented severe impairment and stepwise recovery of regional and global LV contractility. The case described confirms that accurate diagnosis, treatment and documenting of functional improvement in takotsubo cardiomyopathy may enable the return to occupational activities even for elderly persons. Int J Occup Med Environ Health 2017;30(4:681–683

  12. Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27.

    Science.gov (United States)

    Tsuda, Takeshi; Fitzgerald, Kristi; Scavena, Mena; Gidding, Samuel; Cox, Mary O; Marks, Harold; Flanigan, Kevin M; Moore, Steven A

    2015-03-01

    We report a family in which two male siblings with Becker muscular dystrophy (BMD) developed severe dilated cardiomyopathy (DCM) and progressive heart failure (HF) at age 11 years; one died at age 14 years while awaiting heart transplant and the other underwent left ventricular assist device implantation at the same age. Genetic analysis of one sibling showed a novel frameshift mutation in exon 27 of Duchenne muscular dystrophy (DMD) gene (c.3779_3785delCTTTGGAinsGG), in which seven base pairs are deleted and two are inserted. Although this predicts an amino-acid substitution and premature termination (p.Thr1260Argfs*8), muscle biopsy dystrophin immunostaining instead indicates that the mutation is more likely to alter splicing. Despite relatively preserved skeletal muscular performance, both the siblings developed progressive HF secondary to early-onset DCM. In addition, their 7-year-old nephew with delayed gross motor development, mild proximal muscle weakness and markedly elevated serum creatine kinase level (>13 000 IU l(-1)) at 16 months was recently demonstrated to have the familial DMD mutation. Here, we report a novel genotype of BMD with early-onset DCM and progressive lethal HF during early adolescence.

  13. Mitochondrial-related gene expression profiles suggest an important role of PGC-1alpha in the compensatory mechanism of endemic dilated cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    He, Shu-Lan [Key Laboratory of Environment and Gene Related Diseases, Xi' an Jiaotong University, Ministry Education, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Trace Elements and Endemic Diseases, Xi' an Jiaotong University, Ministry of Health, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Tan, Wu-Hong, E-mail: tanwh@mail.xjtu.edu.cn [Key Laboratory of Environment and Gene Related Diseases, Xi' an Jiaotong University, Ministry Education, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Trace Elements and Endemic Diseases, Xi' an Jiaotong University, Ministry of Health, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Zhang, Zeng-Tie; Zhang, Feng [Key Laboratory of Environment and Gene Related Diseases, Xi' an Jiaotong University, Ministry Education, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Trace Elements and Endemic Diseases, Xi' an Jiaotong University, Ministry of Health, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Qu, Cheng-Juan [Institute of Biomedicine, University of Eastern Finland, Kuopio (Finland); Lei, Yan-Xia; Zhu, Yan-He [Key Laboratory of Environment and Gene Related Diseases, Xi' an Jiaotong University, Ministry Education, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Key Laboratory of Trace Elements and Endemic Diseases, Xi' an Jiaotong University, Ministry of Health, No. 76 Yanta West Road, Xi' an, Shaanxi 710061 (China); Yu, Han-Jie [Department of Biotechnology, Northwest University, Xi' an, Shaanxi 710069 (China); Xiang, You-Zhang [Shandong Institute for prevention and Treatment of Endemic Disease, Jinan, Shandong 250014 (China); and others

    2013-10-15

    Keshan disease (KD) is an endemic dilated cardiomyopathy with unclear etiology. In this study, we compared mitochondrial-related gene expression profiles of peripheral blood mononuclear cells (PBMCs) derived from 16 KD patients and 16 normal controls in KD areas. Total RNA was isolated, amplified, labeled and hybridized to Agilent human 4×44k whole genome microarrays. Mitochondrial-related genes were screened out by the Third-Generation Human Mitochondria-Focused cDNA Microarray (hMitChip3). Quantitative real-time PCR, immunohistochemical and biochemical parameters related mitochondrial metabolism were conducted to validate our microarray results. In KD samples, 34 up-regulated genes (ratios≥2.0) were detected by significance analysis of microarrays and ingenuity systems pathway analysis (IPA). The highest ranked molecular and cellular functions of the differentially regulated genes were closely related to amino acid metabolism, free radical scavenging, carbohydrate metabolism, and energy production. Using IPA, 40 significant pathways and four significant networks, involved mainly in apoptosis, mitochondrion dysfunction, and nuclear receptor signaling were identified. Based on our results, we suggest that PGC-1alpha regulated energy metabolism and anti-apoptosis might play an important role in the compensatory mechanism of KD. Our results may lead to the identification of potential diagnostic biomarkers for KD in PBMCs, and may help to understand the pathogenesis of KD. Highlights: • Thirty-four up-regulated genes were detected in KD versus health controls. • Forty pathways and four networks were detected in KD. • PGC-1alpha regulated energy metabolism and anti-apoptosis in KD.

  14. Cardiomyopathy Following Latrodectus Envenomation

    Directory of Open Access Journals (Sweden)

    Levine, Michael

    2010-12-01

    Full Text Available Latrodectus envenomations are common throughout the United States and the world. While many envenomations can result in catecholamine release with resultant hypertension and tachycardia, myocarditis is very rare. We describe a case of a 22- year-old male who sustained a Latrodectus envenomation complicated by cardiomyopathy. [West J Emerg Med. 2010; 11(5:521-523.

  15. Hormones and postpartum cardiomyopathy.

    NARCIS (Netherlands)

    Clapp, C.; Thebault, S.C.; Martinez de la Escalera, G.M.

    2007-01-01

    Prolactin, a hormone fundamental for lactation, was recently shown to mediate postpartum cardiomyopathy, a life-threatening disease in late-term and lactating mothers. The detrimental effect of prolactin results from myocardial upregulation of cathepsin-D, which in turn cleaves prolactin to a 16 kDa

  16. Broken heart as work-related accident: Occupational stress as a cause of takotsubo cardiomyopathy in 55-year-old female teacher – Role of automated function imaging in diagnostic workflow

    Directory of Open Access Journals (Sweden)

    Agnieszka Mielczarek

    2015-12-01

    Full Text Available Takotsubo cardiomiopathy (TTC (known also as “ampulla cardiomyopathy,” “apical ballooning” or “broken heart syndrome” is connected with a temporary systolic left ventricular dysfunction without the culprit coronary lesion. Takotsubo cardiomyopathy was first described in 1990 in Japan after octopus trapping pot with a round bottom and narrow neck similar in shape to left ventriculogram in TTC patients. The occurrence of TTC is usually precipitated by a stressful event with a clinical presentation mimicking myocardial infarction: chest pain, ST-T segment elevation or T-wave inversion, a rise in cardiac troponin, and contractility abnormalities in echocardiography. A left ventricular dysfunction is transient and improves within a few weeks. Takotsubo cardiomyopathy typically occurs in postmenopausal women and the postulated mechanism is catecholamine overstimulation. Moreover, the distribution of contractility impairments usually does not correspond with typical region supplied by a single coronary artery. Therefore, the assessment of regional pattern of systolic dysfunction with speckle-tracking echocardiography and automated function imaging (AFI technique may be important in diagnosis of TTC and may improve our insight into its patophysiology. We described a 55-year-old female teacher with TTC diagnosed after acute psychological stress in workplace. The provoking factor related with occupational stress and pattern of contraction abnormalities documented with AFI technique including basal segments of left ventricle make this case atypical.

  17. Broken heart as work-related accident: Occupational stress as a cause of takotsubo cardiomyopathy in 55-year-old female teacher - Role of automated function imaging in diagnostic workflow.

    Science.gov (United States)

    Mielczarek, Agnieszka; Kasprzak, Jarosław Damian; Marcinkiewicz, Andrzej; Kurpesa, Małgorzata; Uznańska-Loch, Barbara; Wierzbowska-Drabik, Karina

    2015-01-01

    Takotsubo cardiomiopathy (TTC) (known also as "ampulla cardiomyopathy," "apical ballooning" or "broken heart syndrome") is connected with a temporary systolic left ventricular dysfunction without the culprit coronary lesion. Takotsubo cardiomyopathy was first described in 1990 in Japan after octopus trapping pot with a round bottom and narrow neck similar in shape to left ventriculogram in TTC patients. The occurrence of TTC is usually precipitated by a stressful event with a clinical presentation mimicking myocardial infarction: chest pain, ST-T segment elevation or T-wave inversion, a rise in cardiac troponin, and contractility abnormalities in echocardiography. A left ventricular dysfunction is transient and improves within a few weeks. Takotsubo cardiomyopathy typically occurs in postmenopausal women and the postulated mechanism is catecholamine overstimulation. Moreover, the distribution of contractility impairments usually does not correspond with typical region supplied by a single coronary artery. Therefore, the assessment of regional pattern of systolic dysfunction with speckle-tracking echocardiography and automated function imaging (AFI) technique may be important in diagnosis of TTC and may improve our insight into its patophysiology. We described a 55-year-old female teacher with TTC diagnosed after acute psychological stress in workplace. The provoking factor related with occupational stress and pattern of contraction abnormalities documented with AFI technique including basal segments of left ventricle make this case atypical. This work is available in Open Access model and licensed under a CC BY-NC 3.0 PL license.

  18. Genetics Home Reference: X-linked dilated cardiomyopathy

    Science.gov (United States)

    ... The other conditions in the spectrum, Duchenne and Becker muscular dystrophy , are characterized by progressive weakness and wasting of ... linked dilated cardiomyopathy is sometimes classified as subclinical Becker muscular dystrophy. Related Information What does it mean if a ...

  19. Relation between myocardial response to dobutamine stress and sympathetic nerve activation in patients with idiopathic dilated cardiomyopathy. A comparison of 123I-MIBG scintigraphic and echocardiographic data

    International Nuclear Information System (INIS)

    Naruse, Hitoshi; Arii, Tohru; Kondo, Tomohiro

    2000-01-01

    It is likely that a close association exists between findings obtained by two methods: dobutamine stress echocardiography and 123 I-MIBG scintigraphy. Both of these methods are associated with β-adrenergic receptor mechanisms. This study was conducted to demonstrate the relation between myocardial response to dobutamine stress and sympathetic nerve release of norepinephrine in the failing heart. In 12 patents with heart failure due to idiopathic dilated cardiomyopathy, the myocardial effects of dobutamine stress were evaluated by low-dose dobutamine stress echocardiography; and sympathetic nerve function was evaluated by scintigraphic imaging with iodine-123[ 123 I]meta-iodobenzylguanidine (MIBG), an analogue of norepinephrine. Echocardiography provided quantitative assessment of wall motion and left ventricular dilation; radiotracer studies with 123 I-MIBG provided quantitative assessment of the heart-to-mediastinum (H/M) uptake ratio and washout rate. Results showed that H/M correlated with baseline wall motion (r=0.682, p=0.0146), wall motion after dobutamine stress (r=0.758, p=0.0043), the change in wall motion (r=0.667, p=0.0178), and with left ventricular diastolic diameter (r=0.837, p=0.0007). In addition, the 123 I-MIBG washout rate correlated with baseline wall motion (r=0.608, p=0.0360), wall motion after dobutamine stress (r=0.703, p=0.0107), and with the change in wall motion (r=0.664, p=0.0185). Wall motion, especially in the myocardial response to dobutamine stress, is related to sympathetic nerve activity in heart failure. (author)

  20. A new methodological approach to assess cardiac work by pressure-volume and stress-length relations in patients with aortic valve stenosis and dilated cardiomyopathy.

    Science.gov (United States)

    Alter, P; Rupp, H; Rominger, M B; Klose, K J; Maisch, B

    2008-01-01

    In experimental animals, cardiac work is derived from pressure-volume area and analyzed further using stress-length relations. Lack of methods for determining accurately myocardial mass has until now prevented the use of stress-length relations in patients. We hypothesized, therefore, that not only pressure-volume loops but also stress-length diagrams can be derived from cardiac volume and cardiac mass as assessed by cardiac magnetic resonance imaging (CMR) and invasively measured pressure. Left ventricular (LV) volume and myocardial mass were assessed in seven patients with aortic valve stenosis (AS), eight with dilated cardiomyopathy (DCM), and eight controls using electrocardiogram (ECG)-gated CMR. LV pressure was measured invasively. Pressure-volume curves were calculated based on ECG triggering. Stroke work was assessed as area within the pressure-volume loop. LV wall stress was calculated using a thick-wall sphere model. Similarly, stress-length loops were calculated to quantify stress-length-based work. Taking the LV geometry into account, the normalization with regard to ventricular circumference resulted in "myocardial work." Patients with AS (valve area 0.73+/-0.18 cm(2)) exhibited an increased LV myocardial mass when compared with controls (Pwork of AS was unchanged when compared with controls (0.539+/-0.272 vs 0.621+/-0.138 Nm, not significant), whereas DCM exhibited a significant depression (0.367+/-0.157 Nm, Pwork was significantly reduced in both AS and DCM when compared with controls (129.8+/-69.6, 200.6+/-80.1, 332.2+/-89.6 Nm/m(2), Pmethodological approach of using CMR and invasive pressure measurement. Myocardial work was reduced in patients with DCM and noteworthy also in AS, while stroke work was reduced in DCM only. Most likely, deterioration of myocardial work is crucial for the prognosis. It is suggested to include these basic physiological procedures in the clinical assessment of the pump function of the heart.

  1. Genetic Misdiagnoses and the Potential for Health Disparities

    DEFF Research Database (Denmark)

    Manrai, Arjun K; Funke, Birgit H; Rehm, Heidi L

    2016-01-01

    BACKGROUND: For more than a decade, risk stratification for hypertrophic cardiomyopathy has been enhanced by targeted genetic testing. Using sequencing results, clinicians routinely assess the risk of hypertrophic cardiomyopathy in a patient's relatives and diagnose the condition in patients who ...

  2. Realce tardio e perfusão miocárdica em cardiomiopatia hipertrófica (comparação entre grupos Realce tardío y perfusión miocárdica en cardiomiopatía hipertrófica (comparación entre grupos Late enhancement and myocardial perfusion in hypertrophic cardiomyopathy (comparison betw een groups

    Directory of Open Access Journals (Sweden)

    Clarissa Almeida Sarmento Barbosa

    2009-10-01

    ía de salida del ventrículo izquierdo. MÉTODO: Veinte y un pacientes con diagnóstico de cardiomiopatía hipertrófica realizaron estudios de función, viabilidad y perfusión miocárdica en las fases de estrés y de reposo por la resonancia magnética. RESULTADOS: Los segmentos ventriculares más comprometidos por la hipertrofia fueron los de la región septal. El grupo obstructivo presentó distribución segmental de espesor miocárdico semejante al no obstructivo, pero con mayores promedios que el primer grupo. El promedio de la fracción de eyección de los pacientes del grupo obstructivo fue mayor que el grupo no obstructivo, mientras que los promedios de los volúmenes sistólico y diastólico finales se hallaron menores en el grupo obstructivo. Hubo correlación positiva entre el espesor de los segmentos del ventrículo y la masa segmental del realce tardío. La inducción de estrés determinó aumento del número de segmentos con alteración de perfusión, y esa alteración fue más evidente en el grupo obstructivo. CONCLUSIÓN: Los segmentos ventriculares con mayor espesor son los septales. Las regiones hipertróficas están asociadas a la mayor extensión de realce tardío. Hubo correlación positiva entre las áreas de hipertrofia ventricular y perfusión miocárdica alterada, y estos hallazgos fueron más evidentes en el grupo obstructivo.BACKGROUND: The magnetic resonance imaging (MRI is an effective method to study hypertrophic cardiomyopathy (HCM. OBJECTIVE: To evaluate, using MRI, the parameters of systolic function, perfusion and myocardial viability in patients with HCM, comparing the groups with and without obstruction of the left ventricular outflow tract. METHODS: Twenty-one patients with a diagnosis of HCM underwent the assessment of myocardial function, viability and perfusion under stress and at rest through MRI. RESULTS: The ventricular segments most severely impaired by hypertrophy were those of the septal region. The obstructive group

  3. Hypertrophic Nonunion Humerus Mimicking an Enchondroma

    Directory of Open Access Journals (Sweden)

    N. K. Magu

    2014-01-01

    Full Text Available Introduction. Although fractures of humeral shaft show excellent results with conservative management, nonunion does occur. Case Report. We bring forth the case of a young male with a 1.5-year-old hypertrophic nonunion of the humerus mimicking an enchondroma. The initial X-ray images of the patient appeared to be an enchondroma, which only on further evaluation and histopathological analysis was diagnosed conclusively to be a hypertrophic nonunion. Discussion. Enchondromas are often incidentally diagnosed benign tumours. It is however not common to misdiagnose a hypertrophic nonunion to be an enchondroma. We present this case to highlight the unique diagnostic dilemma the treating team had to face.

  4. Takotsubo (Stress Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Justin J Hourmozdi

    2017-01-01

    Full Text Available History of present illness: A 59-year-old male presented to the emergency department in shock from pneumonia. The patient was initially afebrile, pulse rate 120 beats per minute, blood pressure 117/69 mmHg, respiratory rate 42 breaths per minute, pulse oximetry 94% on a non-rebreather mask and a lactate of 14 mmol/L. He became progressively more hypotensive despite fluid resuscitation and was started on norepinephrine. Shortly after, the patient developed torsades de pointes that was terminated with intravenous push magnesium. His initial ECG had shown sinus tachycardia; however, repeat ECG showed ST-segment elevation in the inferolateral leads and the patient had troponin I elevation that peaked at 16 ng/mL. Significant findings: Bedside echocardiography showed the findings consistent with Takotsubo cardiomyopathy. Echocardiographic images are shown in subxiphoid (A and apical four chamber (B views. Note the apical ballooning appearance (asterisk of the left ventricle (LV. Discussion: Formal echocardiography confirmed features classic for Takotsubo (stress cardiomyopathy, including globally depressed left ventricle (LV ejection fraction, systolic apical ballooning appearance of the LV, mid and apical segments of LV depression, and hyper kinesis of the basal walls. Takotsubo cardiomyopathy is a syndrome known to cause ST-segment elevation on ECG, transient LV dysfunction, and dysrhythmia in the absence of acute obstructive coronary disease. There is no consensus on diagnostic criteria; however, these criteria are commonly used: 1 transient hypokinesis, akinesis, or dyskinesis in the LV mid-segments with or without apical involvement; regional wall motion abnormalities that extend beyond a single epicardial vascular distribution; and frequently, but not always, a stressful trigger 2 the absence of acute coronary disease or angiographic evidence of acute plaque rupture 3 new ECG abnormalities (ST-segment elevation and/or T-wave inversion or modest

  5. Attenuated hypertrophic response to pressure overload in a lamin A/C haploinsufficiency mouse.

    Science.gov (United States)

    Cupesi, Mihaela; Yoshioka, Jun; Gannon, Joseph; Kudinova, Anastacia; Stewart, Colin L; Lammerding, Jan

    2010-06-01

    Inherited mutations cause approximately 30% of all dilated cardiomyopathy cases, with autosomal dominant mutations in the LMNA gene accounting for more than one third of these. The LMNA gene encodes the nuclear envelope proteins lamins A and C, which provide structural support to the nucleus and also play critical roles in transcriptional regulation. Functional deletion of a single allele is sufficient to trigger dilated cardiomyopathy in humans and mice. However, whereas Lmna(-/-) mice develop severe muscular dystrophy and dilated cardiomyopathy and die by 8 weeks of age, heterozygous Lmna(+/-) mice have a much milder phenotype, with changes in ventricular function and morphology only becoming apparent at 1 year of age. Here, we studied 8- to 20-week-old Lmna(+/-) mice and wild-type littermates in a pressure overload model to examine whether increased mechanical load can accelerate or exacerbate myocardial dysfunction in the heterozygotes. While overall survival was similar between genotypes, Lmna(+/-) animals had a significantly attenuated hypertrophic response to pressure overload as evidenced by reduced ventricular mass and myocyte size. Analysis of pressure overload-induced transcriptional changes suggested that the reduced hypertrophy in the Lmna(+/-) mice was accompanied by impaired activation of the mechanosensitive gene Egr-1. In conclusion, our findings provide further support for a critical role of lamins A and C in regulating the cellular response to mechanical stress in cardiomyocytes and demonstrate that haploinsufficiency of lamins A and C alone is sufficient to alter hypertrophic responses and cardiac function in the face of pressure overload in the heart. (c) 2009 Elsevier Ltd. All rights reserved.

  6. Cardiac insulin-like growth factor-1 and cyclins gene expression in canine models of ischemic or overpacing cardiomyopathy.

    Science.gov (United States)

    Mahmoudabady, Maryam; Mathieu, Myrielle; Touihri, Karim; Hadad, Ielham; Da Costa, Agnes Mendes; Naeije, Robert; Mc Entee, Kathleen

    2009-10-09

    Insulin-like growth factor-1 (IGF-1), transforming growth factor beta (TGFbeta) and cyclins are thought to play a role in myocardial hypertrophic response to insults. We investigated these signaling pathways in canine models of ischemic or overpacing-induced cardiomyopathy. Echocardiographic recordings and myocardial sampling for measurements of gene expressions of IGF-1, its receptor (IGF-1R), TGFbeta and of cyclins A, B, D1, D2, D3 and E, were obtained in 8 dogs with a healed myocardial infarction, 8 dogs after 7 weeks of overpacing and in 7 healthy control dogs. Ischemic cardiomyopathy was characterized by moderate left ventricular systolic dysfunction and eccentric hypertrophy, with increased expressions of IGF-1, IGF-1R and cyclins B, D1, D3 and E. Tachycardiomyopathy was characterized by severe left ventricular systolic dysfunction and dilation with no identifiable hypertrophic response. In the latter model, only IGF-1 was overexpressed while IGF-1R, cyclins B, D1, D3 and E stayed unchanged as compared to controls. The expressions of TGFbeta, cyclins A and D2 were comparable in the 3 groups. The expression of IGF-1R was correlated with the thickness of the interventricular septum, in systole and diastole, and to cyclins B, D1, D3 and E expression. These results agree with the notion that IGF-1/IGF-1R and cyclins are involved in the hypertrophic response observed in cardiomyopathies.

  7. NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.

    Science.gov (United States)

    Ceyhan-Birsoy, Ozge; Miatkowski, Maya M; Hynes, Elizabeth; Funke, Birgit H; Mason-Suares, Heather

    2018-04-25

    RASopathies include a group of syndromes caused by pathogenic germline variants in RAS-MAPK pathway genes and typically present with facial dysmorphology, cardiovascular disease, and musculoskeletal anomalies. Recently, variants in RASopathy-associated genes have been reported in individuals with apparently nonsyndromic cardiomyopathy, suggesting that subtle features may be overlooked. To determine the utility and burden of adding RASopathy-associated genes to cardiomyopathy panels, we tested 11 RASopathy-associated genes by next-generation sequencing (NGS), including NGS-based copy number variant assessment, in 1,111 individuals referred for genetic testing for hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM). Disease-causing variants were identified in 0.6% (four of 692) of individuals with HCM, including three missense variants in the PTPN11, SOS1, and BRAF genes. Overall, 36 variants of uncertain significance (VUSs) were identified, averaging ∼3VUSs/100 cases. This study demonstrates that adding a subset of the RASopathy-associated genes to cardiomyopathy panels will increase clinical diagnoses without significantly increasing the number of VUSs/case. © 2018 Wiley Periodicals, Inc.

  8. Frequency of echocardiographic complications of dilated cardiomyopathy at a tertiary care hospital

    International Nuclear Information System (INIS)

    Rashid, A.; Ahmed, H.N.; Ahmed, N.

    2012-01-01

    Dilated cardiomyopathy can lead to a variety of complications recognisable on clinical, echocardiographic, electrocardiographic and radiographic assessment. Among this, transthoracic echocardiography has the dual advantage of being helpful in making the diagnosis of dilated cardiomyopathy as well as an effective tool in early recognition of certain complications for timely management to improve the quality of life of these patients. Methods: This descriptive (case series) study was undertaken at departments of medicine, cardiology, paediatrics and obs/gyn, Ayub Teaching Hospital, Abbottabad from July to December, 2008. fifty patients of dilated cardiomyopathy without age and gender discrimination were selected by convenience sampling. Those with hypertrophic and restrictive cardiomyopathies, valvular and congenital heart disease, hypertension and ischemic heart disease were excluded. Results: mean age was 47.12 +- 17.9 year with male predominance (males=34, females=16). Mean ejection fraction was 30.6 +- 6.9%. complications revealed on echocardiography were intracardiac thrombi (5, 10%), spontaneous echo contrast (5, 10%), pericardial effusion (6, 12%), mitral regurgitation (46, 92%), tricuspid (25, 50%), aortic (5, 10%), pulmonary (2, 4%) multi-valvular regurgitation (28, 56%), and left atrial dilatation (36, 72%). Conclusion: lv systolic dysfunction, cardiac thrombi, spontaneous echo contrast, mitral and tricuspid regurgitation and left atrial enlargement are important complications of dilated cardiomyopathy. echocardiography is important tool towards identification of these complications. (author)

  9. MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis.

    Science.gov (United States)

    Hsu, Ying-Han R; Yogasundaram, Haran; Parajuli, Nirmal; Valtuille, Lucas; Sergi, Consolato; Oudit, Gavin Y

    2016-01-01

    Heart failure remains an important clinical burden, and mitochondrial dysfunction plays a key role in its pathogenesis. The heart has a high metabolic demand, and mitochondrial function is a key determinant of myocardial performance. In mitochondrial disorders, hypertrophic remodeling is the early pattern of cardiomyopathy with progression to dilated cardiomyopathy, conduction defects and ventricular pre-excitation occurring in a significant proportion of patients. Cardiac dysfunction occurs in approximately a third of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome, a stereotypical example of a mitochondrial disorder leading to a cardiomyopathy. We performed unique comparative ultrastructural and gene expression in a MELAS heart compared with non-failing controls. Our results showed a remarkable increase in mitochondrial inclusions and increased abnormal mitochondria in MELAS cardiomyopathy coupled with variable sarcomere thickening, heterogeneous distribution of affected cardiomyocytes and a greater elevation in the expression of disease markers. Investigation and management of patients with mitochondrial cardiomyopathy should follow the well-described contemporary heart failure clinical practice guidelines and include an important role of medical and device therapies. Directed metabolic therapy is lacking, but current research strategies are dedicated toward improving mitochondrial function in patients with mitochondrial disorders.

  10. Activated nuclear transcription factor κB in patients with myocarditis and dilated cardiomyopathy-relation to inflammation and cardiac function

    International Nuclear Information System (INIS)

    Alter, Peter; Rupp, Heinz; Maisch, Bernhard

    2006-01-01

    Objectives and background: Myocarditis is caused by various agents and autoimmune processes. It is unknown whether viral genome persistence represents inactive remnants of previous infections or whether it is attributed to ongoing adverse processes. The latter also applies to the course of autoimmune myocarditis. One principal candidate for an adverse remodeling is nuclear factor-κB (NFκB). Methods: A total of 93 patients with suspected myocarditis/cardiomyopathy was examined. Hemodynamics were assessed by echocardiography as well as right and left heart catheterization. Endomyocardial biopsies were taken from the left ventricle. Biopsies were examined by immunohistochemistry and PCR for viral genomes. Selective immunostaining of activated NFκB was performed. Results: NFκB was increased in patients with myocarditis when compared with controls (11.1 ± 7.1% vs. 5.0 ± 5.3%, P 2 = 0.72, P 2 = 0.43, P < 0.02). Increased activated NFκB was found in adenovirus persistence when compared with controls (P = 0.001). Only a trend of increased NFκB activation was seen in cytomegalovirus persistence. Parvovirus B19 persistence did not affect NFκB activation. Conclusions: Increased activation of NFκB is related to inflammatory processes in myocarditis. Since activated NFκB correlates with left ventricular function, it could be assumed that NFκB activation occurs at early stages of inflammation. Potentially, NFκB could inhibit loss of cardiomyocytes by apoptosis and protect from cardiac dilation. Since NFκB is a crucial key transcription factor of inflammation, its prognostic and future therapeutic relevance should be addressed

  11. Molecular screening by polymerase chain reaction detects panleukopenia virus DNA in formalin-fixed hearts from cats with idiopathic cardiomyopathy and myocarditis.

    Science.gov (United States)

    Meurs, K M; Fox, P R; Magnon, A L; Liu, S; Towbin, J A

    2000-01-01

    Viral myocarditis has been suggested as an etiology for cardiomyopathy in several mammalian species. Myocarditis and idiopathic cardiomyopathy have been reported in the domestic cat, although a viral etiology has not been demonstrated. Because of the continuing interest in the potential relationship between viral myocarditis and cardiomyopathy, we evaluated hearts from cats with spontaneous, idiopathic cardiomyopathy for viral genomic material within myocytes by polymerase chain reaction, and for the presence of myocarditis by light microscopy. Thirty-one (31) formalin-fixed hearts from domestic cats who died of idiopathic cardiomyopathy were randomly selected from pathology archives. Seventeen (17) formalin-fixed hearts from healthy cats were similarly selected as normal controls. The polymerase chain reaction (PCR) was used to evaluate myocardial tissue for the presence of viral genome from feline panleukopenia virus, herpes virus, calici virus, and corona virus. Hearts were examined using light microscopy for histologic evidence of myocarditis according to the Dallas criteria. Panleukopenia virus was identified by PCR in 10 of 31 cats with cardiomyopathy but in none of the controls. Neither cardiomyopathic or control cats tested positive by PCR for herpes virus, calici virus, and corona virus. Myocarditis was detected by histologic examination in 18 of 31 cardiomyopathic cats and in none of 17 control cats. Myocarditis and or feline panleukopenia virus genome was detected in felines with idiopathic hypertrophic, dilated, and restrictive cardiomyopathy, suggesting a possible role of viral infection and inflammation in the pathogenesis of cardiomyopathy in this species.

  12. BAG3 myofibrillar myopathy presenting with cardiomyopathy.

    Science.gov (United States)

    Konersman, Chamindra G; Bordini, Brett J; Scharer, Gunter; Lawlor, Michael W; Zangwill, Steven; Southern, James F; Amos, Louella; Geddes, Gabrielle C; Kliegman, Robert; Collins, Michael P

    2015-05-01

    Myofibrillar myopathies (MFMs) are a heterogeneous group of neuromuscular disorders distinguished by the pathological hallmark of myofibrillar dissolution. Most patients present in adulthood, but mutations in several genes including BCL2-associated athanogene 3 (BAG3) cause predominantly childhood-onset disease. BAG3-related MFM is particularly severe, featuring weakness, cardiomyopathy, neuropathy, and early lethality. While prior cases reported either neuromuscular weakness or concurrent weakness and cardiomyopathy at onset, we describe the first case in which cardiomyopathy and cardiac transplantation (age eight) preceded neuromuscular weakness by several years (age 12). The phenotype comprised distal weakness and severe sensorimotor neuropathy. Nerve biopsy was primarily axonal with secondary demyelinating/remyelinating changes without "giant axons." Muscle biopsy showed extensive neuropathic changes that made myopathic changes difficult to interpret. Similar to previous cases, a p.Pro209Leu mutation in exon 3 of BAG3 was found. This case underlines the importance of evaluating for MFMs in patients with combined neuromuscular weakness and cardiomyopathy. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. Laser application for hypertrophic rhinitis

    Science.gov (United States)

    Inouye, Tetsuzo; Tanabe, Tetsuya; Nakanoboh, Manabu; Ogura, Masami

    1995-05-01

    The CO2 and KTP/532 lasers have been used in the treatment of an allergic and hypertrophic rhinitis for the past several years. As we know, the laser enables a surgeon to perform the operation with minimum hemorrhage and minimized pain, during and after the procedure. Additionally many of these operations can be performed under local anesthesia instead of general anesthesia, on an outpatient basis. The laser is used to irradiate the mucous membranes of the inferior turbinates. Vaporization and cutting is easily done. Post operative management of the local operated area is easy. The advantages of laser surgery over regular surgical techniques are supreme for intranasal operations when performed under local anesthesia.

  14. Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy

    NARCIS (Netherlands)

    K.Y. van Spaendonck-Zwarts (Karin); J.P. van Tintelen (Peter); D.J. van Veldhuisen (Dirk); R. van der Werf (Rik); J.D.H. Jongbloed (Jan); W.J. Paulus (Walter); D. Dooijes (Dennis); M.P. van den Berg (Maarten)

    2010-01-01

    textabstractBACKGROUND-: Anecdotal cases of familial clustering of peripartum cardiomyopathy (PPCM) and familial occurrences of PPCM and idiopathic dilated cardiomyopathy (DCM) together have been observed, suggesting that genetic factors play a role in the pathogenesis of PPCM. We hypothesized that

  15. Reduction of myocardial blood flow reserve in idiopathic dilated cardiomyopathy without overt heart failure and its relation with functional indices: an echo-Doppler and positron emission tomography study.

    Science.gov (United States)

    Morales, Maria-Aurora; Neglia, Danilo; L'Abbate, Antonio

    2008-08-01

    Myocardial blood flow during pharmacological vasodilatation is depressed in patients with idiopathic dilated cardiomyopathy even the in absence of overt heart failure; the extent of myocardial blood flow abnormalities is not predictable by left ventricular ejection fraction (LVEF) and diastolic dimensions. To assess whether myocardial blood flow impairment in idiopathic dilated cardiomyopathy without overt heart failure can be related to Doppler-derived dP/dt and to echocardiographically determined left ventricular end systolic stress - which is linked to myocardial blood flow reserve in advanced disease. Twenty-six patients, New York Heart Association Class I-II, (LVEF 37.4 +/- 1.4%, left ventricular diastolic dimensions 62.6 +/- 0.9 mm) underwent resting/dipyridamole [13N]NH3 flow positron emission tomography and an ultrasonic study. Regional myocardial blood flow values (ml/min per g) were computed from positron emission tomography data in 13 left ventricular (LV) myocardial regions and averaged to provide mean myocardial blood flow and myocardial blood flow reserve, defined as dipyridamole/resting mean myocardial blood flow ratio. Resting myocardial blood flow was 0.686 +/- 0.045, dipyridamole myocardial blood flow 1.39 +/- 0.15 and myocardial blood flow reserve 2.12 +/- 0.2, lower than in controls (P < 0.01). The ratio dP/dt was directly related to dipyridamole myocardial blood flow and myocardial blood flow reserve (r = 0.552 and 0.703, P < 0.005 and P < 0.0001); no relation was found between myocardial blood flow and LVEF left ventricular diastolic dimensions, and left ventricular end systolic stress. In idiopathic dilated cardiomyopathy patients without overt heart failure, the extent of myocardial blood flow reserve impairment is related to dP/dt but not to more classical indices of left ventricular function.

  16. Cardiomyopathy in the pediatric patients

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2018-04-01

    Full Text Available Pediatric cardiomyopathies are a group of myocardial diseases with complex taxonomies. Cardiomyopathy can occur in children at any age, and it is a common cause of heart failure and heart transplantation in children. The incidence of pediatric cardiomyopathy is increasing with time. They may be associated with variable comorbidities, which are most often arrhythmia, heart failure, and sudden death. Medical imaging technologies, including echocardiography, cardiac magnetic resonance, and nuclear cardiology, are helpful in reaching a diagnosis of cardiomyopathy. Nevertheless, endomyocardial biopsy is the final diagnostic method of diagnosis. Patients warrant surgical operations, such as palliative operations, bridging operations, ventricular septal maneuvers, and heart transplantation, if pharmaceutical therapies are ineffective. Individual therapeutic regimens due to pediatric characteristics, genetic factors, and pathogenesis may improve the effects of treatment and patients' survival. Key Words: cardiomyopathy, classification, pediatrics

  17. Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.

    Science.gov (United States)

    Zhao, Yue; Cao, Hong; Song, Yindi; Feng, Yue; Ding, Xiaoxue; Pang, Mingjie; Zhang, Yunmei; Zhang, Hong; Ding, Jiahuan; Xia, Xueshan

    2016-06-01

    Inherited cardiomyopathy is the major cause of sudden cardiac death (SCD) and heart failure (HF). The disease is associated with extensive genetic heterogeneity; pathogenic mutations in cardiac sarcomere protein genes, cytoskeletal protein genes and nuclear envelope protein genes have been linked to its etiology. Early diagnosis is conducive to clinical monitoring and allows for presymptomatic interventions as needed. In the present study, the entire coding sequences and flanking regions of 12 major disease (cardiomyopathy)-related genes [namely myosin, heavy chain 7, cardiac muscle, β (MYH7); myosin binding protein C, cardiac (MYBPC3); lamin A/C (LMNA); troponin I type 3 (cardiac) (TNNI3); troponin T type 2 (cardiac) (TNNT2); actin, α, cardiac muscle 1 (ACTC1); tropomyosin 1 (α) (TPM1); sodium channel, voltage gated, type V alpha subunit (SCN5A); myosin, light chain 2, regulatory, cardiac, slow (MYL2); myosin, heavy chain 6, cardiac muscle, α (MYH6); myosin, light chain 3, alkali, ventricular, skeletal, slow (MYL3); and protein kinase, AMP-activated, gamma 2 non-catalytic subunit  (PRKAG2)] in 8 patients with dilated cardiomyopathy (DCM) and in 8 patients with hypertrophic cardiomyopathy (HCM) were amplified and then sequenced using the Ion Torrent Personal Genome Machine (PGM) system. As a result, a novel heterozygous mutation (MYH7, p.Asn885Thr) and a variant of uncertain significance (TNNT2, p.Arg296His) were identified in 2 patients with HCM. These 2 missense mutations, which were absent in the samples obtained from the 200 healthy control subjects, altered the amino acid that was evolutionarily conserved among a number of vertebrate species; this illustrates that these 2 non-synonymous mutations play a role in the pathogenesis of HCM. Moreover, a double heterozygous mutation (PRKAG2, p.Gly100Ser plus MYH7, p.Arg719Trp) was identified in a patient with severe familial HCM, for the first time to the best of our

  18. Mechanical Defects of Muscle Fibers with Myosin Light Chain Mutants that Cause Cardiomyopathy

    OpenAIRE

    Roopnarine, Osha

    2003-01-01

    Familial hypertrophic cardiomyopathy is a disease caused by single mutations in several sarcomeric proteins, including the human myosin ventricular regulatory light chain (vRLC). The effects of four of these mutations (A13T, F18L, E22K, and P95A) in vRLC on force generation were determined as a function of Ca2+ concentration. The endogenous RLC was removed from skinned rabbit psoas muscle fibers, and replaced with either rat wildtype vRLC or recombinant rat vRLC (G13T, F18L, E22K, and P95A). ...

  19. Prevention and curative management of hypertrophic scar formation

    NARCIS (Netherlands)

    Bloemen, M.C.; Veer, van der W.M.; Ulrich, M.; Zuijlen, van P.P.; Niessen, F.B.; Middelkoop, E.

    2009-01-01

    Although hypertrophic scarring commonly occurs following burns, many aspects such as incidence of and optimal treatment for scar hypertrophy remain unclear. This review will focus on hypertrophic scar formation after burn in particular, exploring multiple treatment options and describing their

  20. Hypertrophic osteoarthropathy associated with alcoholic liver disease without cirrhosis.

    Science.gov (United States)

    Varju, T; Lesch, M; Adorján, A

    1986-01-01

    Two cases of secondary hypertrophic osteoarthropathy associated with alcoholic liver disease without cirrhosis are reported. Conditions which can be associated with hypertrophic osteoarthropathy and theoretical factors which can play a role in its pathomechanism are briefly discussed.

  1. Catecholamine induced cardiomyopathy in pheochromocytoma

    Directory of Open Access Journals (Sweden)

    Ron Thomas Varghese

    2013-01-01

    Full Text Available Catecholamine induced cardiomyopathy in the setting of pheochromocytoma is an unusual clinical entity. Earlier studies have reported left ventricular dysfunction in around 10% of subjects with pheochromocytoma. [1] Catecholamine induced vasoconstriction, direct toxic effect of byproducts of catecholamine degradation and direct receptor-mediated mechanisms are thought to contribute to cardiomyopathy in subjects with pheochromocytoma. The presentation remains a diagnostic challenge as patients may already have hypertensive heart disease and acute coronary syndrome on account of uncontrolled secondary hypertension. We report a case of a 42-year-old male, who presented with features of pheochromocytoma induced cardiomyopathy.

  2. Microfibrillar cardiomyopathy: A rare case

    Directory of Open Access Journals (Sweden)

    Narender Kumar

    2011-01-01

    Full Text Available Microfibrillar cardiomyopathy is a very rare cause of restrictive cardiomyopathy (RCM. The index case was a male patient who presented with shortness of breath and pedal edema. Further clinical investigations favored a clinical diagnosis of RCM. An endomyocardial biopsy revealed subendocardial and interstitial hyaline eosinophillic material resembling amyloid that did not stain with Congo red. An electron microscopic examination showed that this material was composed of twisted linear and bundles of tangled microfibrils. The etiology of the microfibrillar deposition is currently unknown. The pathologists should entertain the diagnosis of microfibrillar cardiomyopathy in suspected cases of amyloidosis that are negative for Congo red.

  3. Diabetic Cardiomyopathy: Bench to Bedside

    Science.gov (United States)

    Schilling, Joel D.; Mann, Douglas L.

    2012-01-01

    The study of diabetic cardiomyopathy (diabetic CM) is an area of significant interest given the strong association between diabetes and the risk of heart failure. Many unanswered questions remain regarding the clinical definition and pathogenesis of this metabolic cardiomyopathy. This article reviews the current understanding of diabetic CM with a particular emphasis on the unresolved issues that have limited translation of scientific discovery to patient bedside. PMID:22999244

  4. In regard to the question of macroscopic differential diagnosis of alcoholic and dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    O. V. Sokolova

    2014-01-01

    Full Text Available The differential diagnosis of alcoholic and dilated cardiomyopathy according to the macroscopic data is represented in the article. The identity of macroscopic changes of heart, related to alcoholic and dilated cardiomyopathy, cannot diagnose these diseases based on the macroscopic characteristics; especially if there are no other visceral manifestations typical for chronic alcoholism.

  5. Distribution of late gadolinium enhancement in various types of cardiomyopathies: Significance in differential diagnosis, clinical features and prognosis.

    Science.gov (United States)

    Satoh, Hiroshi; Sano, Makoto; Suwa, Kenichiro; Saitoh, Takeji; Nobuhara, Mamoru; Saotome, Masao; Urushida, Tsuyoshi; Katoh, Hideki; Hayashi, Hideharu

    2014-07-26

    The recent development of cardiac magnetic resonance (CMR) techniques has allowed detailed analyses of cardiac function and tissue characterization with high spatial resolution. We review characteristic CMR features in ischemic and non-ischemic cardiomyopathies (ICM and NICM), especially in terms of the location and distribution of late gadolinium enhancement (LGE). CMR in ICM shows segmental wall motion abnormalities or wall thinning in a particular coronary arterial territory, and the subendocardial or transmural LGE. LGE in NICM generally does not correspond to any particular coronary artery distribution and is located mostly in the mid-wall to subepicardial layer. The analysis of LGE distribution is valuable to differentiate NICM with diffusely impaired systolic function, including dilated cardiomyopathy, end-stage hypertrophic cardiomyopathy (HCM), cardiac sarcoidosis, and myocarditis, and those with diffuse left ventricular (LV) hypertrophy including HCM, cardiac amyloidosis and Anderson-Fabry disease. A transient low signal intensity LGE in regions of severe LV dysfunction is a particular feature of stress cardiomyopathy. In arrhythmogenic right ventricular cardiomyopathy/dysplasia, an enhancement of right ventricular (RV) wall with functional and morphological changes of RV becomes apparent. Finally, the analyses of LGE distribution have potentials to predict cardiac outcomes and response to treatments.

  6. Noonan syndrome and clinically related disorders

    Science.gov (United States)

    Tartaglia, Marco; Gelb, Bruce D.; Zenker, Martin

    2010-01-01

    Noonan syndrome is a relatively common, clinically variable developmental disorder. Cardinal features include postnatally reduced growth, distinctive facial dysmorphism, congenital heart defects and hypertrophic cardiomyopathy, variable cognitive deficit and skeletal, ectodermal and hematologic anomalies. Noonan syndrome is transmitted as an autosomal dominant trait, and is genetically heterogeneous. So far, heterozygous mutations in nine genes (PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 and CBL) have been documented to underlie this disorder or clinically related phenotypes. Based on these recent discoveries, the diagnosis can now be confirmed molecularly in approximately 75% of affected individuals. Affected genes encode for proteins participating in the RAS-mitogen-activated protein kinases (MAPK) signal transduction pathway, which is implicated in several developmental processes controlling morphology determination, organogenesis, synaptic plasticity and growth. Here, we provide an overview of clinical aspects of this disorder and closely related conditions, the molecular mechanisms underlying pathogenesis, and major genotype-phenotype correlations. PMID:21396583

  7. A Rare Occurance with Epidermolysis Bullosa Disease: Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Derya Cimen

    2014-02-01

    Full Text Available Epidermolysis bullosa is a congenital and herediter vesiculobullous disease. Dystrophic form of this disease is characterized by severe malnutrition, failure to thrive, adhesions at fingers, joint contractures related with the formation of scar tissues, carcinoma of the skin, anemia, hipoalbuminemia, wound enfections and sepsis. Rarely, mortal dilated cardiomyopathy may occur in patients. In this report we present a 13 year-old pediatric patient with dilated cardiomyopathy, clinically diagnosed with Epidermolysis bullosa as well as a review of recent related literature.

  8. Mitochondrial Dynamics in Diabetic Cardiomyopathy

    Science.gov (United States)

    Galloway, Chad A.

    2015-01-01

    Abstract Significance: Cardiac function is energetically demanding, reliant on efficient well-coupled mitochondria to generate adenosine triphosphate and fulfill the cardiac demand. Predictably then, mitochondrial dysfunction is associated with cardiac pathologies, often related to metabolic disease, most commonly diabetes. Diabetic cardiomyopathy (DCM), characterized by decreased left ventricular function, arises independently of coronary artery disease and atherosclerosis. Dysregulation of Ca2+ handling, metabolic changes, and oxidative stress are observed in DCM, abnormalities reflected in alterations in mitochondrial energetics. Cardiac tissue from DCM patients also presents with altered mitochondrial morphology, suggesting a possible role of mitochondrial dynamics in its pathological progression. Recent Advances: Abnormal mitochondrial morphology is associated with pathologies across diverse tissues, suggesting that this highly regulated process is essential for proper cell maintenance and physiological homeostasis. Highly structured cardiac myofibers were hypothesized to limit alterations in mitochondrial morphology; however, recent work has identified morphological changes in cardiac tissue, specifically in DCM. Critical Issues: Mitochondrial dysfunction has been reported independently from observations of altered mitochondrial morphology in DCM. The temporal relationship and causative nature between functional and morphological changes of mitochondria in the establishment/progression of DCM is unclear. Future Directions: Altered mitochondrial energetics and morphology are not only causal for but also consequential to reactive oxygen species production, hence exacerbating oxidative damage through reciprocal amplification, which is integral to the progression of DCM. Therefore, targeting mitochondria for DCM will require better mechanistic characterization of morphological distortion and bioenergetic dysfunction. Antioxid. Redox Signal. 22, 1545–1562. PMID

  9. Cardiac MRI in restrictive cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Gupta, A. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Singh Gulati, G., E-mail: gulatigurpreet@rediffmail.com [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Seth, S. [Department of Cardiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India); Sharma, S. [Department of Cardiovascular Radiology, All India Institute of Medical Sciences, Ansari Nagar, Delhi (India)

    2012-02-15

    Restrictive cardiomyopathy (RCM) is a specific group of heart muscle disorders characterized by inadequate ventricular relaxation during diastole. This leads to diastolic dysfunction with relative preservation of systolic function. Although short axis systolic function is usually preserved in RCM, the long axis systolic function may be severely impaired. Confirmation of diagnosis and information regarding aetiology, extent of myocardial damage, and response to treatment requires imaging. Importantly, differentiation from constrictive pericarditis (CCP) is needed, as only the latter is managed surgically. Echocardiography is the initial cardiac imaging technique but cannot reliably suggest a tissue diagnosis; although recent advances, especially tissue Doppler imaging and spectral tracking, have improved its ability to differentiate RCM from CCP. Cardiac catheterization is the reference standard, but is invasive, two-dimensional, and does not aid myocardial characterization. Cardiac magnetic resonance (CMR) is a versatile technique providing anatomical, morphological and functional information. In recent years, it has been shown to provide important information regarding disease mechanisms, and also been found useful to guide treatment, assess its outcome and predict patient prognosis. This review describes the CMR features of RCM, appearances in various diseases, its overall role in patient management, and how it compares with other imaging techniques.

  10. Obesity-associated cardiac pathogenesis in broiler breeder hens: Development of metabolic cardiomyopathy.

    Science.gov (United States)

    Chen, C Y; Huang, Y F; Ko, Y J; Liu, Y J; Chen, Y H; Walzem, R L; Chen, S E

    2017-07-01

    Feed intake is typically restricted (R) in broiler hens to avoid obesity and improve egg production and livability. To determine whether improved heart health contributes to improved livability, fully adult 45-week-old R hens were allowed to consume feed to appetite (ad libitum; AL) up to 10 wk (70 d). Mortality, contractile functions, and morphology at 70 d, and measurements of cardiac hypertrophic remodeling at 7 d and 21 d were made and compared between R and AL hens. Outcomes for cardiac electrophysiology and mortality, reported separately, found increased mortality in AL hens in association with cardiac pathological hypertrophy and contractile dysfunction. The present study aimed to delineate metabolic cardiomyopathies underlying the etiology of obesity-associated cardiac pathology. Metabolic measurements were made in hens continued on R rations or assigned to AL feeding after 7 d and 21 days. AL feeding increased plasma insulin, glucose, and non-esterified fatty acid (NEFA) concentrations by 21 d (P hens was confirmed by cardiac triacylglycerol (TG) and ceramide accumulation consistent with up-regulation of related enzyme gene expressions, and by increased indices of oxidation stress (P hens, cardiac pyruvate dehydrogenase (PDH) activity and glucose transporter (GLUT) gene expressions increased progressively while carnitine palmitoyltransferase-1 (CPT-1) transcript levels in AL hens declined from 7 d to 21 d (P hens was further indicated by increased leukocyte infiltrates, interleukin-1β (IL-1β) and IL-6 production, cellular apoptosis, interstitial fibrosis, and expression of the heart failure marker myosin heavy chain (MHC-β; cardiac muscle beta) (P hens. © 2017 Poultry Science Association Inc.

  11. Takotsubo Cardiomyopathy and Catatonia in the Setting of Benzodiazepine Withdrawal

    Directory of Open Access Journals (Sweden)

    Teng J. Peng

    2016-01-01

    Full Text Available We report two serious and unusual complications of benzodiazepine withdrawal in a single patient: takotsubo cardiomyopathy and catatonia. This 61-year-old female patient was brought to the emergency department with lethargy and within hours had declined into a state of catatonia. Although there was never a complaint of chest pain, ECG showed deep anterior T-wave inversions and cardiac enzymes were elevated. An echocardiogram was consistent with takotsubo cardiomyopathy. She later received 1 mg of midazolam and within minutes had resolution of catatonic symptoms. Careful history revealed that she had omitted her daily dose of lorazepam for 3 days prior to admission. To our knowledge, the case presented herein is the first report of simultaneous catatonia and takotsubo cardiomyopathy in the setting of benzodiazepine withdrawal. The pathogenesis of both conditions is poorly understood but may be indirectly related to the sudden decrease in γ-aminobutyric acid (GABA signaling during benzodiazepine withdrawal.

  12. Impaired cardiac mitochondrial oxidative phosphorylation and enhanced mitochondrial oxidative stress in feline hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun; Dela, Flemming; Koch, Jørgen

    2015-01-01

    respiration with complex I-linked nonfatty acid substrates and with fatty acid substrates, respectively, was significantly lower in the hearts of HCM cats compared with control cats. Mitochondrial ROS release during state 3 with complex I-linked substrates and thiobarbituric acid-reactive substances...

  13. Left ventricular remodeling and fibrosis: Sex differences and relationship with diastolic function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Chen, You-Zhou; Qiao, Shu-Bin; Hu, Feng-Huan; Yuan, Jian-Song; Yang, Wei-Xian; Cui, Jin-Gang; Zhang, Yan; Zhang, Chang-Lin

    2015-01-01

    Highlights: • There are significant differences in LV remodeling and fibrosis as divided by sex. • Women have worse diastolic dysfunction compared to men measured by CMR. • LV remodeling and fibrosis correlate with markers of diastolic dysfunction. - Abstract: Objectives: We investigated sex differences in left ventricular (LV) remodeling and fibrosis and their relationship with LV diastolic dysfunction by cardiovascular magnetic resonance (CMR). Methods: CMR imaging was performed simultaneously in 152 age-matched patients (76 men, 76 women; mean age: 49 ± 9 years) without LV systolic dysfunction. LV remodeling index (LVRI) was calculated as the ratio of LV mass and end-diastolic volume. Diastolic function indexes including peak filling rate (PFR) and time to PFR (tPFR) were evaluated. Extent of late gadolinium enhancement (LGE) was measured. Results: LVRI and extent of LGE were greater in women compared with men (1.48 ± 0.22 vs. 1.36 ± 0.28 g/ml; 13.15 ± 2.48 vs. 11.35 ± 2.34 g, respectively, both P < 0.001). Women had lower PFR and higher tPFR (both P < 0.001) than men. LVRI and the extent of LGE showed significant relationships with parameters of diastolic function in both sex. In a multivariate analysis, LVRI remained a strong independent predictor of PFR and TPFR in women (β = −0.272, P = 0.032; β = 0.348, P = 0.016, respectively), and in men (β = −0.374, P < 0.001; β = 0.660, P < 0.001, respectively). Furthermore, the extent of LGE also remained an independent predictor of PFR in women (β = −0.283, P = 0.033) and men (β = −0.492, P < 0.001). Conclusions: There are prominent sex differences in LV remodeling and myocardial fibrosis. We suggest that the effects of LV remodeling and fibrosis may lead to diastolic dysfunction with greater susceptibility to worse clinical outcome in women

  14. Left ventricular remodeling and fibrosis: Sex differences and relationship with diastolic function in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Chen, You-Zhou [Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Qiao, Shu-Bin, E-mail: qsbfw@sina.com [Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Hu, Feng-Huan; Yuan, Jian-Song; Yang, Wei-Xian; Cui, Jin-Gang [Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Zhang, Yan [Department of Radiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Zhang, Chang-Lin [Department of Cardiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China)

    2015-08-15

    Highlights: • There are significant differences in LV remodeling and fibrosis as divided by sex. • Women have worse diastolic dysfunction compared to men measured by CMR. • LV remodeling and fibrosis correlate with markers of diastolic dysfunction. - Abstract: Objectives: We investigated sex differences in left ventricular (LV) remodeling and fibrosis and their relationship with LV diastolic dysfunction by cardiovascular magnetic resonance (CMR). Methods: CMR imaging was performed simultaneously in 152 age-matched patients (76 men, 76 women; mean age: 49 ± 9 years) without LV systolic dysfunction. LV remodeling index (LVRI) was calculated as the ratio of LV mass and end-diastolic volume. Diastolic function indexes including peak filling rate (PFR) and time to PFR (tPFR) were evaluated. Extent of late gadolinium enhancement (LGE) was measured. Results: LVRI and extent of LGE were greater in women compared with men (1.48 ± 0.22 vs. 1.36 ± 0.28 g/ml; 13.15 ± 2.48 vs. 11.35 ± 2.34 g, respectively, both P < 0.001). Women had lower PFR and higher tPFR (both P < 0.001) than men. LVRI and the extent of LGE showed significant relationships with parameters of diastolic function in both sex. In a multivariate analysis, LVRI remained a strong independent predictor of PFR and TPFR in women (β = −0.272, P = 0.032; β = 0.348, P = 0.016, respectively), and in men (β = −0.374, P < 0.001; β = 0.660, P < 0.001, respectively). Furthermore, the extent of LGE also remained an independent predictor of PFR in women (β = −0.283, P = 0.033) and men (β = −0.492, P < 0.001). Conclusions: There are prominent sex differences in LV remodeling and myocardial fibrosis. We suggest that the effects of LV remodeling and fibrosis may lead to diastolic dysfunction with greater susceptibility to worse clinical outcome in women.

  15. Efficacy and safety of the angiotensin II receptor blocker losartan for hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Axelsson, Anna; Iversen, Kasper; Vejlstrup, Niels

    2015-01-01

    ·0001) confirmed drug compliance; blood pressure did not decrease in the placebo group. Two (2%) patients, both in the placebo group, died from sudden cardiac death during follow-up. In the losartan group, one (1%) patient had angioedema, one (1%) had deterioration of renal function, and one (1%) had hyperkalaemia...

  16. Implantable cardioverter defibrillators in the context of hypertrophic cardiomyopathy: a lesson in patient autonomy.

    Science.gov (United States)

    Bray, Jonathan James Hyett; Bucciarelli-Ducci, Chiara; Stuart, Graham

    2018-02-05

    Hypertrophiccardiomyopathy (HCM) is common, whereas the decision not to have an implantable cardioverterdefibrillator (ICD) when probably falling into a 'high-risk' category is not. A solicitor aged 45 years attended the inherited cardiac conditions clinic for review of her HCM and discussion about ICD implantation for primary prevention of sudden cardiac death (SCD). Despite a predicted 7% risk of SCD within the next 5 years, according to the European Society of Cardiology endorsed HCM Risk-SCD risk stratification tool, the patient opted against implantation of an ICD and comprehensively justifies her decision. This report discusses ethical aspects of a consultation offering ICD protection against SCD in the context of HCM and emphasises the clinicians' role in respecting patient autonomy. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  17. Burned out myocardium in biventricular hypertrophic cardiomyopathy presenting with congestive heart failure: Importance of ECG changes

    Directory of Open Access Journals (Sweden)

    Christer Backman

    2014-01-01

    Full Text Available A 60 year old man was found to have a heart murmur and ECG features of ventricular hypertrophy on a medical check up for military recruitment at age of 20, despite having swimming as the only exercise. His mother had 3 survived children out of 9 pregnancies.

  18. Mitochondrial dysfunction and oxidative stress in Naturally-Occurring Feline Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun

    and thiobarbituric acid reactive substances (TBARS). Results: In heart muscle of HCM cats, complex-I-linked state 3-respiration was significantly decreased (30 ± 16 pmol s -1 mg-1) compared to CON (64 ± 26 pmol s -1 mg-1) (P=0.006). Fatty acid oxidation with palmitoyl-carnitine and octanoyl-carnitine...

  19. Angiotensin-converting enzyme insertion/deletion polymorphism in hypertrophic cardiomyopathy: An Egyptian case control study

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2014-03-01

    Conclusion: The finding of higher frequency of DD genotype among HCM patients compared to healthy volunteers, particularly so, in sporadic cases suggests that HCM expression is possibly influenced by a genetically predisposed milieu partially determined by the ACE I/D variants. Despite the lack of significant correlation between I/D variants and clinicopathologic characteristics of the HCM patients, however, the higher prevalence of D allele among TNNT2 and MYH7 mutation carriers may contribute to the variable disease outcome among sarcomeric gene positive cases, such a correlation can only be proven through long term follow up studies.

  20. Extensive hypertrophic lupus erythematosus: Atypical presentation

    Directory of Open Access Journals (Sweden)

    Tarun Narang

    2012-01-01

    Full Text Available Lupus erythematosus (LE is a disease with a wide spectrum of cutaneous and systemic manifestations. Clinical features of patients with LE show a great variation, and for this reason it is difficult to develop a unifying concept of this disease. Our objective is to present a case of hypertrophic LE with atypical morphology and extensive involvement, who responded favorably to isotretinoin. Diagnosis of hypertrophic lupus erythematosus (HLE was confirmed by characteristic histopathological findings. Combination therapy with isotretinoin and hydroxychloroquine resulted in flattening and repression of previously refractory skin lesions. Sometimes, HLE lesions may present a diagnostic and therapeutic dilemma. In long standing lesions, squamous cell carcinoma may arise. Therefore, HLE requires adequate therapy with clinical and histopathological follow up.

  1. Infantile hypertrophic pyloric stenosis. Infantil hypertrofisk pylorusstenose

    Energy Technology Data Exchange (ETDEWEB)

    Breivik, K.; Soereide, J.A.; Bland, J. (Rogaland Central Hospital, Stavanger (Norway))

    1990-09-01

    During an eight-year period, 40 patients were operated consecutively for pyloric stenosis. The most common symptom was projectile vomiting, which occurred in 92.5% of the cases. On examination only three patients had a palpable hypertrophic pylorus. In 39 patients a preoperative X-ray examination with contrast was necessary to confirm the diagnosis. A pyleromyotomy was performed in all patients. The diagnosis routines and the results of the treatment are discussed. 16 refs., 2 figs., 3 tabs.

  2. Protection by dimethyl fumarate against diabetic cardiomyopathy in type 1 diabetic mice likely via activation of nuclear factor erythroid-2 related factor 2.

    Science.gov (United States)

    Hu, Xinyue; Rajesh, Mohanraj; Zhang, Jian; Zhou, Shanshan; Wang, Shudong; Sun, Jian; Tan, Yi; Zheng, Yang; Cai, Lu

    2018-05-01

    Oxidative stress and inflammation play key roles in the development of diabetic cardiomyopathy (DCM). Dimethyl fumarate (DMF), an FDA approved medicine for relapsing multiple sclerosis, has manifested its antioxidant and anti-inflammatory function mostly in the central nervous system. In this study, we investigated whether DMF could attenuate the development of DCM. Type 1 diabetes mouse model was established using multiple low-dose streptozotocin, and the diabetic mice were treated with DMF (10 mg/kg body weight) for 3 months. Cardiac functions were determined using echocardiography. Oxidative stress, pro-inflammatory cytokines and pro-fibrotic markers were determined with commercially available kits, real-time quantitative PCR or western blot techniques. DCM was characterized by diminished cardiac function, accompanied by oxidative stress and enhanced expression of pro-inflammatory cytokines. Diabetic cardiac tissue exhibited marked fibrosis, revealed by extracellular matrix deposition as determined by Sirius red staining of the myocardial tissues. Furthermore, Nrf2 and its downstream effectors were repressed in diabetic myocardium. On the contrary, diabetic animals treated with DMF exhibited blunted oxidative stress, inflammation, fibrosis and this correlated with Nrf2 activation. Our findings suggest that DMF could potentially thwart diabetes-induced myocardial tissue injury, likely via activation of Nrf2 function, providing firm impetus for future repurposing of DMF in the management of DCM. Copyright © 2018 Elsevier B.V. All rights reserved.

  3. Characteristic adaptations of the extracellular matrix in dilated cardiomyopathy

    NARCIS (Netherlands)

    Louzao-Martinez, Laura; Vink, Aryan; Harakalova, Magdalena; Asselbergs, Folkert W; Verhaar, Marianne C; Cheng, Caroline

    2016-01-01

    Dilated cardiomyopathy (DCM) is a relatively common heart muscle disease characterized by the dilation and thinning of the left ventricle accompanied with left ventricular systolic dysfunction. Myocardial fibrosis is a major feature in DCM and therefore it is inevitable that corresponding

  4. Clinical features of Noncompaction Cardiomyopathy

    NARCIS (Netherlands)

    K. Caliskan (Kadir)

    2012-01-01

    textabstractNoncompaction cardiomyopathy (NCCM) is recognized as a separate disease entity since the first report in 1984 of a rare case with persistent myocardial sinusoids and a series of 8 pediatric and adolescent patients in 1990 with increased trabeculation of the left ventricular endocardium.

  5. New insights into cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Møller, Søren; Hove, Jens D; Dixen, Ulrik

    2013-01-01

    beta-receptor function seem involved in the autonomic and cardiac dysfunction. Cirrhotic cardiomyopathy can be revealed by tissue Doppler imaging but is best demasked by physical or pharmacological stress. Liver transplantation may revert cardiac dysfunction but surgery and shunt insertion may also...

  6. Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.

    Science.gov (United States)

    Mazurova, Stella; Magner, Martin; Kucerova-Vidrova, Vendula; Vondrackova, Alzbeta; Stranecky, Viktor; Pristoupilova, Anna; Zamecnik, Josef; Hansikova, Hana; Zeman, Jiri; Tesarova, Marketa; Honzik, Tomas

    2017-07-01

    Cardiomyopathy is a common manifestation in neonates and infants with mitochondrial disorders. In this study, we report two cases manifesting with fatal mitochondrial hypertrophic cardiomyopathy, which include the third known patient with thymidine kinase 2 deficiency and the ninth patient with alanyl-tRNA synthetase 2 deficiency. The girl with thymidine kinase 2 deficiency had hypertrophic cardiomyopathy together with regression of gross motor development at the age of 13 months. Neurological symptoms and cardiac involvement progressed into severe myopathy, psychomotor arrest, and cardiorespiratory failure at the age of 22 months. The imaging methods and autoptic studies proved that she suffered from unique findings of leucoencephalopathy, severe, mainly cerebellar neuronal degeneration, and hepatic steatosis. The girl with alanyl-tRNA synthetase 2 deficiency presented with cardiac failure and underlying hypertrophic cardiomyopathy within 12 hours of life and subsequently died at 9 weeks of age. Muscle biopsy analyses demonstrated respiratory chain complex I and IV deficiencies, and histological evaluation revealed massive mitochondrial accumulation and cytochrome c oxidase-negative fibres in both cases. Exome sequencing in the first case revealed compound heterozygozity for one novel c.209T>C and one previously published c.416C>T mutation in the TK2 gene, whereas in the second case homozygozity for the previously described mutation c.1774C>T in the AARS2 gene was determined. The thymidine kinase 2 mutations resulted in severe mitochondrial DNA depletion (to 12% of controls) in the muscle. We present, for the first time, severe leucoencephalopathy and hepatic steatosis in a patient with thymidine kinase 2 deficiency and the finding of a ragged red fibre-like image in the muscle biopsy in a patient with alanyl-tRNA synthetase 2 deficiency.

  7. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice

    DEFF Research Database (Denmark)

    Pinto, Yigal M; Elliott, Perry M; Arbustini, Eloisa

    2016-01-01

    In this paper the Working Group on Myocardial and Pericardial Disease proposes a revised definition of dilated cardiomyopathy (DCM) in an attempt to bridge the gap between our recent understanding of the disease spectrum and its clinical presentation in relatives, which is key for early diagnosis...

  8. Fibrosis of extracellular matrix is related to the duration of the disease but is unrelated to the dynamics of collagen metabolism in dilated cardiomyopathy.

    Science.gov (United States)

    Rubiś, Paweł; Wiśniowska-Śmialek, Sylwia; Wypasek, Ewa; Biernacka-Fijalkowska, Barbara; Rudnicka-Sosin, Lucyna; Dziewiecka, Ewa; Faltyn, Patrycja; Khachatryan, Lusine; Karabinowska, Aleksandra; Kozanecki, Artur; Tomkiewicz-Pająk, Lidia; Podolec, Piotr

    2016-12-01

    Fibrosis of extracellular matrix (ECM) in dilated cardiomyopathy (DCM) corresponds to the myocardial over-production of various types of collagens. However, mechanism of this process is poorly understood. To investigate whether enhanced metabolism of ECM occur in DCM. Seventy consecutive DCM patients (pts) (48 ± 12.1 years, EF 24.4 ± 7.4 %) and 20 healthy volunteers were studied. Based on symptoms duration, pts were divided into new-onset (n = 35, 6 months) and chronic DCM (n = 35, >6 months). Markers of collagen type I and III synthesis-procollagen type I carboxy- and amino-terminal peptides (PICP and PINP) and procollagen type III carboxy- and amino-terminal peptides (PIIICP and PIIINP), collagen 1 (col-1), ECM metabolism controlling factors-tumor growth factor beta-1 (TGF1-β), connective tissue growth factor (CTGF), and ECM degradation enzymes-matrix metalloproteinases (MMP-2, MMP-9) and their tissue inhibitor (TIMP-1) were measured in serum. All pts underwent right ventricular endomyocardial biopsy to study ECM fibrosis. The presence of fibrosis was detected in 24 (34.3 %) pts and was more prevalent in chronic DCM [17 (48.6 %) vs. 7 (20 %), p collagen type III prevailed over collagen type I. ECM metabolism was not different in DCM regardless of the duration of the disease and status of myocardial fibrosis. Serum markers of ECM metabolism were found not to be useful for the prediction of myocardial fibrosis in DCM.

  9. Hypoxia impedes hypertrophic chondrogenesis of human multipotent stromal cells.

    Science.gov (United States)

    Gawlitta, Debby; van Rijen, Mattie H P; Schrijver, Edmée J M; Alblas, Jacqueline; Dhert, Wouter J A

    2012-10-01

    Within the field of bone tissue engineering, the endochondral approach to forming bone substitutes represents a novel concept, where cartilage will undergo hypertrophic differentiation before its conversion into bone. For this purpose, clinically relevant multipotent stromal cells (MSCs), MSCs, can be differentiated into the chondrogenic lineage before stimulating hypertrophy. Controversy exists in literature on the oxygen tensions naturally present during this transition in, for example, the growth plate. Therefore, the present study focused on the effects of different oxygen tensions on the progression of the hypertrophic differentiation of MSCs. Bone marrow-derived MSCs of four human donors were expanded, and differentiation was induced in aggregate cultures. Normoxic (20% oxygen) and hypoxic (5%) conditions were imposed on the cultures in chondrogenic or hypertrophic differentiation media. After 4 weeks, the cultures were histologically examined and by real-time polymerase chain reaction. Morphological assessment showed the chondrogenic differentiation of cultures from all donors under normoxic chondrogenic conditions. In addition, hypertrophic differentiation was observed in cultures derived from all but one donor. The deposition of collagen type X was evidenced in both chondrogenically and hypertrophically stimulated cultures. However, mineralization was exclusively observed in hypertrophically stimulated, normoxic cultures. Overall, the progression of hypertrophy was delayed in hypoxic compared with normoxic groups. The observed delay was supported by the gene expression patterns, especially showing the up-regulation of the late hypertrophic markers osteopontin and osteocalcin under normoxic hypertrophic conditions. Concluding, normoxic conditions are more beneficial for hypertrophic differentiation of MSCs than are hypoxic conditions, as long as the MSCs possess hypertrophic potential. This finding has implications for cartilage tissue engineering as well

  10. Takotsubo cardiomyopathy associated with thyrotoxicosis: a case report and review of the literature.

    Science.gov (United States)

    Eliades, Myrto; El-Maouche, Diala; Choudhary, Chitra; Zinsmeister, Bruce; Burman, Kenneth D

    2014-02-01

    Takotsubo or stress-induced cardiomyopathy is a form of reversible cardiomyopathy commonly associated with emotional or physical stress. Thyrotoxicosis has been identified as a rare cause of Takotsubo cardiomyopathy, with only 12 cases reported in the literature. Here, we report a case of thyroid storm presenting with Takotsubo cardiomyopathy in the setting of Graves' disease. A 71-year-old woman presented with abdominal pain, vomiting, confusion, and history of weight loss. She was initially diagnosed and treated for diabetic ketoacidosis at another hospital and was transferred to our hospital one day after initial presentation because of concern for acute coronary syndrome. A diagnosis of Takotsubo cardiomyopathy was made on the basis of cardiac catheterization. At that time, she was diagnosed and treated for thyroid storm. Follow-up 7 weeks later revealed improvement of her cardiac function and near-normalization of thyroid hormone levels. In this patient, who presented with symptoms of heart failure, acute coronary syndrome was initially considered, but the diagnosis of Takotsubo cardiomyopathy associated with thyroid storm was ultimately made based on cardiac catheterization and laboratory investigation. Thyrotoxicosis is associated with adverse disturbances in the cardiovascular system. Takotsubo cardiomyopathy could be a presenting manifestation of thyroid storm, perhaps related to excess catecholamine levels or sensitivity.

  11. Is endothelial microvascular function equally impaired among patients with chronic Chagas and ischemic cardiomyopathy?

    Science.gov (United States)

    Borges, Juliana Pereira; Mendes, Fernanda de Souza Nogueira Sardinha; Lopes, Gabriella de Oliveira; Sousa, Andréa Silvestre de; Mediano, Mauro Felippe Felix; Tibiriçá, Eduardo

    2018-08-15

    Chronic Chagas cardiomyopathy (CCC) and cardiomyopathies due to other etiologies involve differences in pathophysiological pathways that are still unclear. Systemic microvascular abnormalities are associated with the pathogenesis of ischemic heart disease. However, systemic microvascular endothelial function in CCC remains to be elucidated. Thus, we compared the microvascular endothelial function of patients presenting with CCC to those with ischemic cardiomyopathy disease. Microvascular reactivity was assessed in 21 patients with cardiomyopathy secondary to Chagas disease, 21 patients with cardiomyopathy secondary to ischemic disease and 21 healthy controls. Microvascular blood flow was assessed in the skin of the forearm using laser speckle contrast imaging coupled with iontophoresis of acetylcholine (ACh). Peak increase in forearm blood flow with ACh iontophoresis in relation to baseline was greater in healthy controls than in patients with heart disease (controls: 162.7 ± 58.4% vs. ischemic heart disease: 74.1 ± 48.3% and Chagas: 85.1 ± 68.1%; p < 0.0001). Patients with Chagas and ischemic cardiomyopathy presented similar ACh-induced changes from baseline in skin blood flow (p = 0.55). Endothelial microvascular function was equally impaired among patients with CCC and ischemic cardiomyopathy. Copyright © 2018 Elsevier B.V. All rights reserved.

  12. Idiopathic hypertrophic cranial pachymeningitis associated with Sweet's Syndrome

    International Nuclear Information System (INIS)

    Cano, Antonio; Ribes, Ramon; Riva, Andres de la; Rubio, Fernando Lopez; Sanchez, Carmen; Sancho, Jose L.

    2002-01-01

    A case of hypertrophic cranial pachymeningitis associated with Sweet's Syndrome is presented. Both entities have been described in association with several other chronic systemic inflammatory diseases and autoimmune conditions. To our knowledge the coexistence between Sweet's Syndrome and hypertrophic cranial pachymeningitis has not been reported up to date. We suggest a possible autoimmune or dysimmune mechanism in the pathogenesis of these two entities

  13. Role of cardiac MRI in nonischemic cardiomyopathies.

    Science.gov (United States)

    Anand, Senthil; Janardhanan, Rajesh

    2016-01-01

    Cardiac magnetic resonance (CMR) with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies. Published by Elsevier B.V.

  14. Role of cardiac MRI in nonischemic cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Senthil Anand

    2016-05-01

    Full Text Available Cardiac magnetic resonance (CMR with its higher spatial resolution is considered the gold standard for evaluating ventricular mass, volumes, and ejection fraction. CMR can be used for accurate diagnosis of several conditions, especially cardiomyopathies. The purpose of this article is to review the utility of CMR in the diagnosis and management of nonischemic cardiomyopathies. We have reviewed both common and rare types of nonischemic cardiomyopathies in detail and elaborated on the specific CMR findings in each. We believe that CMR is an invaluable tool, not only in differentiating nonischemic from ischemic cardiomyopathy, but also in aiding the accurate diagnosis and management of the subtype of nonischemic cardiomyopathy. CMR should routinely be integrated in the diagnostic workup of various cardiomyopathies.

  15. The Mutations Associated with Dilated Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ruti Parvari

    2012-01-01

    Full Text Available Cardiomyopathy is an important cause of heart failure and a major indication for heart transplantation in children and adults. This paper describes the state of the genetic knowledge of dilated cardiomyopathy (DCM. The identification of the causing mutation is important since presymptomatic interventions of DCM have proven value in preventing morbidity and mortality. Additionally, as in general in genetic studies, the identification of the mutated genes has a direct clinical impact for the families and population involved. Identifying causative mutations immediately amplifies the possibilities for disease prevention through carrier screening and prenatal testing. This often lifts a burden of social isolation from affected families, since healthy family members can be assured of having healthy children. Identification of the mutated genes holds the potential to lead to the understanding of disease etiology, pathophysiology, and therefore potential therapy. This paper presents the genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM, and tries to relate these to the functions of the mutated genes.

  16. Pseudotumoural hypertrophic neuritis of the facial nerve

    OpenAIRE

    Zanoletti, E; Mazzoni, A; Barbò, R

    2008-01-01

    In a retrospective study of our cases of recurrent paralysis of the facial nerve of tumoural and non-tumoural origin, a tumour-like lesion of the intra-temporal course of the facial nerve, mimicking facial nerve schwannoma, was found and investigated in 4 cases. This was defined as, pseudotumoral hypertrophic neuritis of the facial nerve. The picture was one of recurrent acute facial palsy with incomplete recovery and imaging of a benign tumour. It was different from the well-known recurrent ...

  17. Pheochromocytoma presenting as takotsubo-like cardiomyopathy following delivery.

    Science.gov (United States)

    Jóźwik-Plebanek, Katarzyna; Pęczkowska, Mariola; Klisiewicz, Anna; Wrzesiński, Kazimierz; Prejbisz, Aleksander; Niewada, Maciej; Kabat, Marek; Szperl, Małgorzata; Eisenhofer, Graeme; Lenders, Jacques W; Januszewicz, Andrzej

    2014-12-01

    Diagnosis of pheochromocytoma during pregnancy can be difficult, and the tumor carries an unfavorable prognosis if not diagnosed and treated in a timely manner. To present a case of Takotsubo-like cardiomyopathy characterized by transient left ventricular apical ballooning due to pheochromocytoma following delivery. A few hours after Caesarean section, a 32-year-old Caucasian female presented with pulmonary edema followed by cardiac arrest with echocardiographic and ventriculographic evidence of reversible acute myocardial failure characteristic of Takotsubo-like cardiomyopathy. A previously unrecognized adrenal pheochromocytoma was found during her clinical work-up. Left ventricle (LV) function normalized after surgical removal of the tumor, which was carried out after implementing an alpha-adrenoreceptor blockade. Hemorrhagic necrosis of the pheochromocytoma was seen on histopathologic analysis; this may have triggered the sequence of events leading to the development of Takotsubo-like cardiomyopathy and hemodynamic collapse. To the best of our knowledge, this is the first reported case of Takotsubo-like cardiomyopathy related to pheochromocytoma following delivery. This emphasizes the increased cardiovascular risk if pheochromocytoma is not diagnosed and treated in a timely manner, especially during pregnancy.

  18. Genetic engineering and therapy for inherited and acquired cardiomyopathies.

    Science.gov (United States)

    Day, Sharlene; Davis, Jennifer; Westfall, Margaret; Metzger, Joseph

    2006-10-01

    The cardiac myofilaments consist of a highly ordered assembly of proteins that collectively generate force in a calcium-dependent manner. Defects in myofilament function and its regulation have been implicated in various forms of acquired and inherited human heart disease. For example, during cardiac ischemia, cardiac myocyte contractile performance is dramatically downregulated due in part to a reduced sensitivity of the myofilaments to calcium under acidic pH conditions. Over the last several years, the thin filament regulatory protein, troponin I, has been identified as an important mediator of this response. Mutations in troponin I and other sarcomere genes are also linked to several distinct inherited cardiomyopathic phenotypes, including hypertrophic, dilated, and restrictive cardiomyopathies. With the cardiac sarcomere emerging as a central player for such a diverse array of human heart diseases, genetic-based strategies that target the myofilament will likely have broad therapeutic potential. The development of safe vector systems for efficient gene delivery will be a critical hurdle to overcome before these types of therapies can be successfully applied. Nonetheless, studies focusing on the principles of acute genetic engineering of the sarcomere hold value as they lay the essential foundation on which to build potential gene-based therapies for heart disease.

  19. Experimental Study of 5-fluorouracil Encapsulated Ethosomes Combined with CO2 Fractional Laser to Treat Hypertrophic Scar.

    Science.gov (United States)

    Zhang, Zhen; Chen, Jun; Huang, Jun; Wo, Yan; Zhang, Yixin; Chen, Xiangdong

    2018-01-18

    This study is designed to explore permeability of ethosomes encapsulated with 5-florouracil (5-FU) mediated by CO 2 fractional laser on hypertrophic scar tissues. Moreover, therapeutic and duration effect of CO 2 fractional laser combined with 5-FU encapsulated ethosomes in rabbit ear hypertrophic scar model will be evaluated. The permeated amount of 5-FU and retention contents of 5-FU were both determined by high-performance liquid chromatography (HPLC). Fluorescence intensities of ethosomes encapsulated with 5-FU (5E) labeled with Rodanmin 6GO (Rho) were measured by confocal laser scanning microscopy (CLSM). The permeability promotion of 5E labeled with Rho in rabbit ear hypertrophic scar mediated by CO 2 fractional laser was evaluated at 0 h, 6 h, 12 h, 24 h, 3 days and 7 days after the irradiation. The opening rates of the micro-channels were calculated according to CLSM. The therapeutic effect of 5EL was evaluated on rabbit ear hypertrophic scar in vivo. Relative thickness of rabbit ear hypertrophic scar before and after the treatment was measured by caliper method. Scar elevation index (SEI) of rabbit ear hypertrophic scar was measured using H&E staining. The data showed that the penetration amount of 5EL group was higher than 5E group (4.15 ± 2.22 vs. 0.73 ± 0.33; p 5E group (107.61 ± 13.27 vs. 20.73 ± 3.77; p 5E group (24.42 ± 4.37 vs.12.25 ± 1.64; p 5E group at different time points (1, 6, and 24 h). The opening rates of the micro-channels were decreased gradually within 24 h, and micro-channels were closed completely 3 days after the irradiation by CO 2 fractional laser. The relative thickness and SEI of rabbit ear hypertrophic scar after 7 days of treatment in the 5EL group were significantly lower than the 5E group. CO 2 fractional laser combined with topical 5E can be effective in the treatment of hypertrophic scar in vivo and supply a novel therapy method for human hypertrophic scar.

  20. Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin.

    Science.gov (United States)

    Sheehan, Alice; Messer, Andrew E; Papadaki, Maria; Choudhry, Afnan; Kren, Vladimír; Biedermann, David; Blagg, Brian; Khandelwal, Anuj; Marston, Steven B

    2018-01-01

    The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) are relatively common, potentially life-threatening and currently untreatable. Mutations are often in the contractile proteins of cardiac muscle and cause abnormal Ca 2+ regulation via troponin. HCM is usually linked to higher myofilament Ca 2+ -sensitivity whilst in both HCM and DCM mutant tissue there is often an uncoupling of the relationship between troponin I (TnI) phosphorylation by PKA and modulation of myofilament Ca 2+ -sensitivity, essential for normal responses to adrenaline. The adrenergic response is blunted, and this may predispose the heart to failure under stress. At present there are no compounds or interventions that can prevent or treat sarcomere cardiomyopathies. There is a need for novel therapies that act at a more fundamental level to affect the disease process. We demonstrated that epigallocatechin-3 gallate (EGCG) was found to be capable of restoring the coupled relationship between Ca 2+ -sensitivity and TnI phosphorylation in mutant thin filaments to normal in vitro , independent of the mutation (15 mutations tested). We have labeled this property "re-coupling." The action of EGCG in vitro to reverse the abnormality caused by myopathic mutations would appear to be an ideal pharmaceutical profile for treatment of inherited HCM and DCM but EGCG is known to be promiscuous in vivo and is thus unsuitable as a therapeutic drug. We therefore investigated whether other structurally related compounds can re-couple myofilaments without these off-target effects. We used the quantitative in vitro motility assay to screen 40 compounds, related to C-terminal Hsp90 inhibitors, and found 23 that can re-couple mutant myofilaments. There is no correlation between re-couplers and Hsp90 inhibitors. The Ca 2+ -sensitivity shift due to TnI phosphorylation was restored to 2.2 ± 0.01-fold ( n = 19) compared to 2.0 ± 0.24-fold ( n = 7) in wild-type thin filaments

  1. Molecular Defects in Cardiac Myofilament Ca2+-Regulation Due to Cardiomyopathy-Linked Mutations Can Be Reversed by Small Molecules Binding to Troponin

    Directory of Open Access Journals (Sweden)

    Alice Sheehan

    2018-03-01

    Full Text Available The inherited cardiomyopathies, hypertrophic cardiomyopathy (HCM and dilated cardiomyopathy (DCM are relatively common, potentially life-threatening and currently untreatable. Mutations are often in the contractile proteins of cardiac muscle and cause abnormal Ca2+ regulation via troponin. HCM is usually linked to higher myofilament Ca2+-sensitivity whilst in both HCM and DCM mutant tissue there is often an uncoupling of the relationship between troponin I (TnI phosphorylation by PKA and modulation of myofilament Ca2+-sensitivity, essential for normal responses to adrenaline. The adrenergic response is blunted, and this may predispose the heart to failure under stress. At present there are no compounds or interventions that can prevent or treat sarcomere cardiomyopathies. There is a need for novel therapies that act at a more fundamental level to affect the disease process. We demonstrated that epigallocatechin-3 gallate (EGCG was found to be capable of restoring the coupled relationship between Ca2+-sensitivity and TnI phosphorylation in mutant thin filaments to normal in vitro, independent of the mutation (15 mutations tested. We have labeled this property “re-coupling.” The action of EGCG in vitro to reverse the abnormality caused by myopathic mutations would appear to be an ideal pharmaceutical profile for treatment of inherited HCM and DCM but EGCG is known to be promiscuous in vivo and is thus unsuitable as a therapeutic drug. We therefore investigated whether other structurally related compounds can re-couple myofilaments without these off-target effects. We used the quantitative in vitro motility assay to screen 40 compounds, related to C-terminal Hsp90 inhibitors, and found 23 that can re-couple mutant myofilaments. There is no correlation between re-couplers and Hsp90 inhibitors. The Ca2+-sensitivity shift due to TnI phosphorylation was restored to 2.2 ± 0.01-fold (n = 19 compared to 2.0 ± 0.24-fold (n = 7 in wild-type thin

  2. Peripartum Cardiomyopathy Presenting as Bradycardia

    OpenAIRE

    Codsi, Elisabeth; Rose, Carl H.; Tweet, Marysia S.; Hayes, Sharonne N.; Best, Patricia J. M.; Blauwet, Lori A.

    2017-01-01

    Peripartum cardiomyopathy (PPCM) is a disease that typically affects young otherwise healthy women. As PPCM is associated with significant mortality, timely diagnosis is necessary to ensure appropriate care. To our knowledge, this represents the first reported case of PPCM presenting as symptomatic bradycardia. We describe the patient’s clinical presentation and relevant findings and review the potential etiology and ramifications of bradycardia in patients with PPCM.

  3. Diagnostic imaging of hypertrophic pyloric stenosis (HPS)

    International Nuclear Information System (INIS)

    Frkovic, M.; Seronja Kuhar, M.; Perhoc, Z.; Barbaric-Babic, V.; Molnar, M.; Vukovic, J.

    2001-01-01

    Background. Imaging of the abdomen in children with suspected hypertrophic pyloric stenosis has been traditionally performed by plain film radiography and upper gastrointestinal contrast studies. In many clinical situations, this approach has been modified or replaced by ultrasound examination. The authors aimed to analyse the value of diagnostic algorithm in children with hypertrophic pyloric stenosis confirmed at surgery in our hospital. Patients and methods. The authors made a five year retrospective review of hospital records of all children operated on for HPS in Clinical Hospital Centre Zagreb - Rebro and found out that 14 boys, between 2 (17 days) and 10 weeks of life (75 days) underwent surgery due to HPS. Results. Specific radiographic signs were: string sign, double track sign, elongation and narrowing of pyloric canal, mushroom sign, gastric distension with fluid and beak sign. Ultrasound was performed in 9 patients, one of them was false negative (sonographer admitted that he had no experience), the rest were positive. Conclusions. If the physical examination is negative or equivocal, sonography by an experienced sonographer must be performed. If the ultrasound finding is negative, than the infant should undergo to barium upper gastrointestinal studies (UGI). If HPS isn't a primary diagnostic question, it's better to perform UGI first in order to make a correct diagnosis. (author)

  4. Genetic basis of arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    Karmouch, Jennifer; Protonotarios, Alexandros; Syrris, Petros

    2018-05-01

    To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.

  5. High?Sensitivity Troponin: A Clinical Blood Biomarker for Staging Cardiomyopathy in Fabry Disease

    OpenAIRE

    2016-01-01

    Background High?sensitivity troponin (hs?TNT), a biomarker of myocardial damage, might be useful for assessing fibrosis in Fabry cardiomyopathy. We performed a prospective analysis of hs?TNT as a biomarker for myocardial changes in Fabry patients and a retrospective longitudinal follow?up study to assess longitudinal hs?TNT changes relative to fibrosis and cardiomyopathy progression. Methods and Results For the prospective analysis, hs?TNT from 75 consecutive patients with genetically confirm...

  6. Cardiomyopathy in becker muscular dystrophy: Overview.

    Science.gov (United States)

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-06-26

    Becker muscular dystrophy (BMD) is an X-linked recessive disorder involving mutations of the dystrophin gene. Cardiac involvement in BMD has been described and cardiomyopathy represents the number one cause of death in these patients. In this paper, the pathophysiology, clinical evaluations and management of cardiomyopathy in patients with BMD will be discussed.

  7. Diagnostic work-up in cardiomyopathies

    DEFF Research Database (Denmark)

    Rapezzi, Claudio; Arbustini, Eloisa; Caforio, Alida L P

    2013-01-01

    a framework for the clinical approach to diagnosis in cardiomyopathies based on the recognition of diagnostic 'red flags' that can be used to guide rational selection of specialized tests including genetic analysis. The basic premise is that the adoption of a cardiomyopathy-specific mindset which combines...

  8. Peripartum cardiomyopathy: Euro Observational Research Program

    NARCIS (Netherlands)

    Hoes, M. F.; van Hagen, I.; Russo, F.; van Veldhuisen, D. J.; van den Berg, M. P.; Roos-Hesselink, J.; van Spaendonck-Zwarts, K. Y.; van der Meer, P.

    2014-01-01

    Peripartum cardiomyopathy is a rare but potentially life-threatening form of heart failure affecting women late in pregnancy or in the first months after delivery. Peripartum cardiomyopathy is difficult to diagnose and its onset and progression are variable between individuals. The pathophysiology

  9. Peripartum cardiomyopathy : Euro Observational Research Program

    NARCIS (Netherlands)

    Hoes, M. F.; van Hagen, I.; Russo, F.; Van Veldhuisen, D. J.; Van den Berg, M. P.; Roos-Hesselink, J.; van Spaendonck-Zwarts, K. Y.; van der Meer, P.

    Peripartum cardiomyopathy is a rare but potentially life-threatening form of heart failure affecting women late in pregnancy or in the first months after delivery. Peripartum cardiomyopathy is difficult to diagnose and its onset and progression are variable between individuals. The pathophysiology

  10. Peripartum Cardiomyopathy: Euro Observational Research Program

    NARCIS (Netherlands)

    M.F. Hoes; I.M. van Hagen (Iris); F. Russo; D.J. van Veldhuisen (Dirk); M.P. van den Berg (Maarten); J.W. Roos-Hesselink (Jolien); K.Y. van Spaendonck-Zwarts (Karin); P. van der Meer (Peter)

    2014-01-01

    textabstractPeripartum cardiomyopathy is a rare but potentially life-threatening form of heart failure affecting women late in pregnancy or in the first months after delivery. Peripartum cardiomyopathy is difficult to diagnose and its onset and progression are variable between individuals. The

  11. Characterization and Long-Term Prognosis of Postmyocarditic Dilated Cardiomyopathy Compared With Idiopathic Dilated Cardiomyopathy.

    Science.gov (United States)

    Merlo, Marco; Anzini, Marco; Bussani, Rossana; Artico, Jessica; Barbati, Giulia; Stolfo, Davide; Gigli, Marta; Muça, Matilda; Naso, Paola; Ramani, Federica; Di Lenarda, Andrea; Pinamonti, Bruno; Sinagra, Gianfranco

    2016-09-15

    Dilated cardiomyopathy (DC) is the final common pathway of different pathogenetic processes and presents a significant prognostic heterogeneity, possibly related to its etiologic variety. The characterization and long-term prognosis of postmyocarditic dilated cardiomyopathy (PM-DC) remain unknown. This study assesses the clinical-instrumental evolution and long-term prognosis of a large cohort of patients with PM-DC. We analyzed 175 patients affected with DC consecutively enrolled from 1993 to 2008 with endomyocardial biopsy (EMB) data available. PM-DC was defined in the presence of borderline myocarditis at EMB or persistent left ventricular dysfunction 1 year after diagnosis of active myocarditis at EMB. Other patients were defined as affected by idiopathic dilated cardiomyopathy (IDC). Analysis of follow-up evaluations was performed at 24, 60, and 120 months. We found 72 PM-DC of 175 enrolled patients (41%). Compared with IDC, patients with PM-DC were more frequently females and less frequently presented a familial history of DC. No other baseline significant differences were found. During the long-term follow-up (median 154, first to third interquartile range 78 to 220 months), patients with PM-DC showed a trend toward slower disease progression. Globally, 18 patients with PM-DC (25%) versus 49 with IDC (48%) experienced death/heart transplantation (p = 0.045). The prognostic advantage for patients with PM-DC became significant beyond 40 months of follow-up. At multivariable time-dependent Cox analysis, PM-DC was confirmed to have a global independent protective role (hazard ratio 0.53, 95% confidence interval 0.28 to 0.97, p = 0.04). In conclusion, PM-DC is characterized by better long-term prognosis compared with IDC. An exhaustive etiologic characterization appears relevant in the prognostic assessment of DC. Copyright © 2016 Elsevier Inc. All rights reserved.