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Sample records for cardiomyopathy hypertrophic

  1. New perspectives in Hypertrophic Cardiomyopathy

    NARCIS (Netherlands)

    M.J.M. Kofflard (Marcel)

    1998-01-01

    textabstractHypertrophic cardiomyopathy is a primary cardiac disorder with a heterogeneous expression. Although relatively uncommon, the disease has been studied extensively as appears from the numerous studies that have explored specific facets of hypertrophic cardiomyopathy. This review will focus

  2. Hypertrophic obstructive cardiomyopathy (HOCM

    Directory of Open Access Journals (Sweden)

    B. Pojskić

    2006-02-01

    Full Text Available Hypertrophic cardiomyopathy (HOCM is an autosomal dominant inherited disease of myocardium. We have presented a case of an asymptomatic female patient with HOCM discovered during family screening for HOCM. At the first examination she had all criteria for HOCM, including echocardiography. The next examination was performed two years later and clear echocardiography progression of disease was found. Pathological findings, including increasing interventricular septum thickness, mitral insufficiency, left ventricular outflow obstruction gradient and narrowing of LV, encouraged us to start the drug the treatment, although patient was clinicaly asymptomatic.

  3. Familial neurofibromatosis and hypertrophic cardiomyopathy.

    OpenAIRE

    Fitzpatrick, A. P.; Emanuel, R W

    1988-01-01

    Two siblings from a family in which neurofibromatosis was inherited as an autosomal dominant had hypertrophic cardiomyopathy and neurofibromatosis. Idiopathic hypertrophic cardiomyopathy may have occurred by chance in two first degree relatives with neurofibromatosis. An alternative explantation is that these diseases are both manifestations of a common hereditary defect of neural crest tissue. Another possibility is that abnormalities of catecholamine metabolism and nerve growth factor in ne...

  4. Genetic biomarkers in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Coats, Caroline J; Elliott, Perry M

    2013-08-01

    Hypertrophic cardiomyopathy is a common inherited heart muscle disorder associated with sudden cardiac death, arrhythmias and heart failure. Genetic mutations can be identified in approximately 60% of patients; these are commonest in genes that encode proteins of the cardiac sarcomere. Similar to other Mendelian diseases these mutations are characterized by incomplete penetrance and variable clinical expression. Our knowledge of this genetic diversity is rapidly evolving as high-throughput DNA sequencing technology is now used to characterize an individual patient's disease. In addition, the genomic basis of several multisystem diseases associated with a hypertrophic cardiomyopathy phenotype has been elucidated. Genetic biomarkers can be helpful in making an accurate diagnosis and in identifying relatives at risk of developing the condition. In the clinical setting, genetic testing and genetic screening should be used pragmatically with appropriate counseling. Here we review the current role of genetic biomarkers in hypertrophic cardiomyopathy, highlight recent progress in the field and discuss future challenges.

  5. Hypertrophic cardiomyopathy screening in young athletes

    Energy Technology Data Exchange (ETDEWEB)

    Rappoport, W.J. [Arizona Heart Inst., Phoenix, AZ (United States); Steingard, P.M. [Phoenix Suns, Phoenix, AZ (United States)

    2006-07-01

    Hypertrophic cardiomyopathy is the leading cause of sudden death during vigorous exercise. Early identification of this abnormality by ECG screening of high-school athletes before they participate in competitive sports helps save lives. (orig.)

  6. Multimodality imaging in apical hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Rosario; Parisi; Francesca; Mirabella; Gioel; Gabrio; Secco; Rossella; Fattori

    2014-01-01

    Apical hypertrophic cardiomyopathy(AHCM) is a relatively rare morphologic variant of HCM in which the hypertrophy of myocardium is localized to the left ventricular apex. Symptoms of AHCM might vary from none to others mimic coronary artery disease including acute coronary syndrome, thus resulting in inappropriate hospitalization. Transthoracic echocardiography is the firstline imaging technique for the diagnosis of hypertrophic cardiomyopathies. However, when the hypertrophy of the myocardium is localized in the ventricular apex might results in missed diagnosis. Aim of this paper is to review the different imaging techniques used for the diagnosis of AHCM and their role in the detection and comprehension of this uncommon disease.

  7. Contractile Dysfunction in Sarcomeric Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    MacIver, David H; Clark, Andrew L

    2016-09-01

    The pathophysiological mechanisms underlying the clinical phenotype of sarcomeric hypertrophic cardiomyopathy are controversial. The development of cardiac hypertrophy in hypertension and aortic stenosis is usually described as a compensatory mechanism that normalizes wall stress. We suggest that an important abnormality in hypertrophic cardiomyopathy is reduced contractile stress (the force per unit area) generated by myocardial tissue secondary to abnormalities such as cardiomyocyte disarray. In turn, a progressive deterioration in contractile stress provokes worsening hypertrophy and disarray. A maintained or even exaggerated ejection fraction is explained by the increased end-diastolic wall thickness producing augmented thickening. We propose that the nature of the hemodynamic load in an individual with hypertrophic cardiomyopathy could determine its phenotype. Hypertensive patients with hypertrophic cardiomyopathy are more likely to develop exaggerated concentric hypertrophy; athletic individuals an asymmetric pattern; and inactive individuals a more apical hypertrophy. The development of a left ventricular outflow tract gradient and mitral regurgitation may be explained by differential regional strain resulting in mitral annular rotation.

  8. Prevalence of hypertrophic cardiomyopathy in China

    Institute of Scientific and Technical Information of China (English)

    Tsung O Cheng

    2004-01-01

    @@ To the Editor: I read with interest the recent article on cardiac troponin T (TNNT2) mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) by Wu et al.1 The authors cited a prevalence of HCM of 0.2% in general population, but did not indicate whether it referred to the general population in China or some other countries.

  9. Aortic biomechanics in hypertrophic cardiomyopathy

    Science.gov (United States)

    Badran, Hala Mahfouz; Soltan, Ghada; Faheem, Nagla; Elnoamany, Mohamed Fahmy; Tawfik, Mohamed; Yacoub, Magdi

    2015-01-01

    Background: Ventricular-vascular coupling is an important phenomenon in many cardiovascular diseases. The association between aortic mechanical dysfunction and left ventricular (LV) dysfunction is well characterized in many disease entities, but no data are available on how these changes are related in hypertrophic cardiomyopathy (HCM). Aim of the work: This study examined whether HCM alone is associated with an impaired aortic mechanical function in patients without cardiovascular risk factors and the relation of these changes, if any, to LV deformation and cardiac phenotype. Methods: 141 patients with HCM were recruited and compared to 66 age- and sex-matched healthy subjects as control group. Pulse pressure, aortic strain, stiffness and distensibility were calculated from the aortic diameters measured by M-mode echocardiography and blood pressure obtained by sphygmomanometer. Aortic wall systolic and diastolic velocities were measured using pulsed wave Doppler tissue imaging (DTI). Cardiac assessment included geometric parameters and myocardial deformation (strain and strain rate) and mechanical dyssynchrony. Results: The pulsatile change in the aortic diameter, distensibility and aortic wall systolic velocity (AWS') were significantly decreased and aortic stiffness index was increased in HCM compared to control (P < .001) In HCM AWS' was inversely correlated to age(r = − .32, P < .0001), MWT (r = − .22, P < .008), LVMI (r = − .20, P < .02), E/Ea (r = − .16, P < .03) LVOT gradient (r = − 19, P < .02) and severity of mitral regurg (r = − .18, P < .03) but not to the concealed LV deformation abnormalities or mechanical dyssynchrony. On multivariate analysis, the key determinant of aortic stiffness was LV mass index and LVOT obstruction while the role LV dysfunction in aortic stiffness is not evident in this population. Conclusion: HCM is associated with abnormal aortic mechanical properties. The severity of cardiac

  10. 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)....

  11. Counselling issues in familial hypertrophic cardiomyopathy.

    OpenAIRE

    Yu, B.; French, J. A.; Jeremy, R W; French, P; McTaggart, D R; Nicholson, M R; Semsarian, C; Richmond, D R; Trent, R.J.

    1998-01-01

    To illustrate the variable clinical presentations and rates of progression in familial hypertrophic cardiomyopathy (FHC), phenotypes and genotypes were compared in three FHC families with different genetic defects. In the first family, the FHC abnormality was a protein truncating mutation (Gln969X) in the cardiac myosin binding protein C gene. The second family had a missense change (Asn755Lys) in the same gene. A missense mutation (Arg453Cys) in the cardiac beta myosin heavy chain gene was p...

  12. Cardiovascular magnetic resonance in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Shiozaki, Afonso Akio; Parga, Jose Rodrigues; Arteaga, Edmundo; Rochitte, Carlos Eduardo [Sao Paulo Univ. (USP), SP (Brazil). Instituto do Coracao. Setor de Tomografia Computarizada e Ressonancia Magnetica Cardiovascular]. E-mail: rochitte@incor.usp.br; Kim, Raymond J. [Duke Cardiovascular Magnetic Resonance Center, Durham, NC (United States); Tassi, Eduardo Marinho [Diagnosticos da America S.A., Rio de Janeiro, RJ (Brazil). Sector of Cardiovascular Magnetic Resonance and Computed Tomography

    2007-03-15

    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)

  13. 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. PMID:15499965

  14. Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM)

    Medline Plus

    Full Text Available Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) Click Here to view the BroadcastMed, Inc. Privacy Policy and Legal Notice © 2016 BroadcastMed, Inc. All ...

  15. Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM)

    Medline Plus

    Full Text Available Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) Click Here to view the BroadcastMed, Inc. Privacy Policy and Legal Notice © 2016 BroadcastMed, Inc. All rights reserved.

  16. Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM)

    Science.gov (United States)

    Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) Click Here to view the BroadcastMed, Inc. Privacy Policy and Legal Notice © 2016 BroadcastMed, Inc. All rights reserved.

  17. RARE CASES OF HYPERTROPHIC CARDIOMYOPATHY: VARIANTS AND CLINICAL OBSERVATIONS

    Directory of Open Access Journals (Sweden)

    V. Yu. Zimina

    2015-09-01

    Full Text Available Hypertrophic cardiomyopathy belongs to a group of hereditary diseases due to sarcomere gene mutation. This abnormality is characterized by the development of symmetric or asymmetric hypertrophy of left ventricular myocardium with its normal contractile function or hypercontractility. Authors provide a brief overview of variants of hypertrophic cardiomyopathy and phenocopies of this disease, when structural changes in the heart are not the result of classic sarcomere gene mutation. In patients with some phenocopies concentric left ventricular hypertrophy can transform into its dilatation with reduced contractility. Such variant of hypertrophic cardiomyopathy is presented in the first clinical observation. The second case shows that hypertrophic cardiomyopathy can be one of the symptoms of the disease with other reasons for poor outcome.

  18. Functional effects of losartan in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Axelsson, Anna Karin Irene; Iversen, Kasper; Vejlstrup, Niels G.;

    2016-01-01

    OBJECTIVE: There is a lack of disease-modifying treatments in hypertrophic cardiomyopathy (HCM). The aim of this randomised, placebo-controlled study was to assess if losartan could improve or ameliorate deterioration of cardiac function and exercise capacity. METHODS: Echocardiography, exercise...... test and MRI or CT were performed at baseline and after 12 months in 133 patients (52±13 years, 35% female) randomly allocated to losartan (100 mg/day) or placebo. RESULTS: Losartan had no effect on systolic function compared with placebo (mean difference for left ventricular ejection fraction (LVEF) 0......%, (95% CI -3% to -1%), p=0.037) and 4% of patients had end-stage HCM with a LVEF of less than 50% at the end of the study. CONCLUSION: Treatment with losartan had no effect on cardiac function or exercise capacity compared with placebo. Losartan fail to improve myocardial performance and failed to alter...

  19. 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...... causal or modifying role in HCM. The MT-CYB gene was sequenced from DNA isolated from blood from 91 Danish HCM probands. Nonsynonymous variants were analyzed by bioinformatics, molecular modeling and simulation. Two germline-inherited, putative disease-causing, nonsynonymous variants: m.15024G>A; p.C93Y...... a kink in the protein backbone, interfering with macromolecular interactions. These molecular effects are compatible with a leaky phenotype, that is, limited but progressive mitochondrial dysfunction. In conclusion, we find that rare, putative leaky mtDNA variants in MT-CYB can be identified in a cohort...

  20. RARE CASES OF HYPERTROPHIC CARDIOMYOPATHY: VARIANTS AND CLINICAL OBSERVATIONS

    OpenAIRE

    V. Yu. Zimina; G. V. Mislitskaya; S. A. Sayganov; S. D. Dzakhova

    2015-01-01

    Hypertrophic cardiomyopathy belongs to a group of hereditary diseases due to sarcomere gene mutation. This abnormality is characterized by the development of symmetric or asymmetric hypertrophy of left ventricular myocardium with its normal contractile function or hypercontractility. Authors provide a brief overview of variants of hypertrophic cardiomyopathy and phenocopies of this disease, when structural changes in the heart are not the result of classic sarcomere gene mutation. In patients...

  1. Myocardial fibrosis in desmin-related hypertrophic cardiomyopathy

    OpenAIRE

    Dai Qinyi; Hong Daojun; Zhang Zhaoqi; He Yi; Jiang Tengyong

    2010-01-01

    Abstract Desmin-related myopathy (DRM) is known to cause different types of cardiomyopathy. Late gadolinium enhancement cardiovascular magnetic resonance (CMR) has been shown to identify fibrosis in ischemic and non-ischemic cardiomyopathies. We present a rare case of desmin-related hypertrophic cardiomyopathy, CMR revealed fibrosis in the lateral wall of the left ventricle. CMR is superior to conventional echocardiography for the detection of myocardial fibrosis in desmin-related cardiomyopa...

  2. Transcriptional regulation of cardiac genes balance pro- and anti-hypertrophic mechanisms in hypertrophic cardiomyopathy

    OpenAIRE

    Nina Gennebäck; Gerhard Wikström; Urban Hellman; Jane-Lise Samuel; Anders Waldenström; Stellan Mörner

    2012-01-01

    Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy. HCM is often hereditary, but our knowledge of the mechanisms leading from mutation to phenotype is incomplete. The transcriptional expression patterns in the myocar - dium of HCM patients may contribute to understanding the mechanisms that drive and stabilize the hypertrophy. Cardiac myectomies/biopsies from 8 patients with hypertrophic obstructive cardiomyopathy (HOCM) and 5 controls were studied ...

  3. [Left ventricular hypertrophy in the cat - "when hypertrophic cardiomyopathy is not hypertrophic cardiomyopathy"].

    Science.gov (United States)

    Glaus, T; Wess, G

    2010-07-01

    According to WHO classification hypertrophic cardiomyopathy (HCM) is a primary genetic cardiomyopathy. Echocardiographically HCM is characterized by symmetric, asymmetric or focal left ventricular hypertrophy (LVH) without recognizable underlying physical cause. However, echocardiographically HCM in cats may not be distinguishable from other causes of a thick appearing left ventricle. Hypovolemia can look like a hypertrophied ventricle but is basically only pseudohypertrophic. Well recognized and logical physical causes of LVH include systemic hypertension and outflow obstruction. LVH similar to HCM may also be found in feline hyperthyroidism. The context of the disease helps to differentiate these physical / physiological causes of LVH. Difficult to distinguish from HCM, particularly when based on a snapshot of a single echocardiographic exam, are myocarditis and . Only the clinical and echocardiographic course allow a reasonably confident etiological diagnosis and the differentiation between HCM and secondary LVH. PMID:20582898

  4. The subaortic tendon as a mimic of hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Ker James

    2009-07-01

    Full Text Available Abstract Originally described by Brock and Teare, today hypertrophic cardiomyopathy is clinically defined as left (or right ventricular hypertrophy without a known cardiac or systemic cause, such as systemic hypertension, Fabry's disease or aortic stenosis. Also appreciated today is the enormous genotypic and phenotypic heterogeneity of this disease with more than 300 mutations over more than 24 genes, encoding various sarcomeric, mitochondrial and calcium-handling proteins, all as genetic causes for hypertrophic cardiomyopathy. Phenotypically, the disease can vary from negligible to extreme hypertrophy, affecting either the left and/or right ventricle in an apical, midventricular or subaortic location. Left ventricular false tendons are thin, fibrous or fibromuscular structures that traverse the left ventricular cavity. Recently, a case report was presented where it was shown that such a false tendon, originating from a subaortic location, was responsible for striking ST-segment elevation on the surface electrocardiogram. In this case report, a case is presented where such a subaortic tendon led to the classic echocardiographic appearance of hypertrophic cardiomyopathy, thus in the assessment of hypertrophic cardiomyopathy, this entity needs to be excluded in order to prevent a false positive diagnosis of hypertrophic cardiomyopathy.

  5. 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.

  6. RISK OF PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY UNDERGOING NONCARDIAC SURGERY

    Institute of Scientific and Technical Information of China (English)

    Tian-ming Xuan; Yong Zeng; Wen-ling Zhu

    2007-01-01

    To determine the risk of noncardiac surgery in patients with hypertrophic cardiomyopathy.Methods We reviewed the medical records of all patients who were diagnosed as hypertrophic cardiomyopathy at Peking Union Medical College Hospital from January 1998 to August 2006 and identified 24 patients who subsequently underwent noncardiac surgery.Results There were no intraoperative cardiac events. Postoperative cardiac events were identified in 3 patients including 1 death due to acute myocardial infarction and 2 episodes of transient hypotension.Conclusions The risk of anesthesia and noncardiac surgery is low in patients with hypertrophic cardiomyopathy.During the perioperative period, beta-blockers and/or calcium channel blockers should be given; vasodilator and inotropic agents should be avoided due to the side effects on hemodynamics.

  7. Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents

    DEFF Research Database (Denmark)

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

    2013-01-01

    The penetrance of hypertrophic cardiomyopathy (HCM) during childhood and adolescence has been only sparsely described. We studied the penetrance of HCM and the short- and long-term outcomes of clinical screening and predictive genetic testing of child relatives of patients with HCM.......The penetrance of hypertrophic cardiomyopathy (HCM) during childhood and adolescence has been only sparsely described. We studied the penetrance of HCM and the short- and long-term outcomes of clinical screening and predictive genetic testing of child relatives of patients with HCM....

  8. 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...

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

    DEFF Research Database (Denmark)

    Axelsson, Anna; Weibring, Kristina; Havndrup, Ole;

    2014-01-01

    AIMS: Lesion of the atrioventricular conduction system is a well known adverse effect of alcohol septal ablation (ASA) in patients with obstructive hypertrophic cardiomyopathy (HCM). We assessed the atrioventricular conduction at long-term follow-up after ASA. METHODS: In patients with a pacemaker...

  10. Peripheral vascular structure and function in hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Rowley, N.J.; Green, D.J.; George, K.; Thijssen, D.H.J.; Oxborough, D.; Sharma, S.; Somauroo, J.D.; Jones, J.; Sheikh, N.; Whyte, G.

    2012-01-01

    BACKGROUND: Hypertrophic cardiomyopathy (HCM) is characterised by idiopathic cardiac enlargement and represents the most frequent cause of sudden cardiac death in athletes under the age of 35 years. Differentiation between physiological (ie, exercise-related) and pathological (ie, HCM-related) cardi

  11. Epidemiology and genetics of hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Tanjore Reena

    2006-01-01

    Full Text Available Background: Hypertrophic cardiomyopathy (HCM is a heart muscle disorder and is known to be inherited as an autosomal dominant trait. Mutations in several sarcomeric, cytoskeletal and mitochondrial genes have been reported in HCM. Though many cases of HCM are being identified, there is limited data regarding the epidemiology and genetics of HCM in India. Aim: Therefore the present study is envisaged at identifying the epidemiological variables in HCM and fitting a probability model assuming dominant mode of inheritance in HCM, which may in turn shed light on the heterogeneity of this complex disorder. Materials AND Methods: The 127 HCM cases were divided into subtypes based on pattern of hypertrophy. Chi square analysis, odds ratio, probability, relative frequency, penetrance and heritability estimates were calculated apart from epidemiological variables. Results: The HCM subtypes revealed the heterogeneous nature of the condition suggesting that the genes/mutations involved in their pathogenesis are different and this is supported by distinctive differences observed in their probability, heritability and penetrance estimates apart from epidemiological variables. An increased male preponderance was observed with the sex ratio being 3.7:1. The age at onset was found to be more than a decade early in familial cases (30 ± 10 yrs compared to non familial cases (44 ± 14 yrs. Chi square analysis revealed obstructive HCM to be following autosomal dominant mode of inheritance where as non-obstructive HCM was significantly deviating. The level of deviation was significantly high for the middle onset group compared to early and late onset groups, therefore this group may be considered as an admixture wherein genes/gene modifiers and environmental variables may be contributing to the heterogeneity and this is further supported by odds ratio. Conclusions: The study thus brings out the complexity of HCM and suggests that modes of inheritance other than

  12. Hypertrophic cardiomyopathy: Part 1 - Introduction, pathology and pathophysiology

    Directory of Open Access Journals (Sweden)

    Praveen Kerala Varma

    2014-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is the most common genetic cardiovascular disease with many genotype and phenotype variations. Earlier terminologies, hypertrophic obstructive cardiomyopathy and idiopathic hypertrophic sub-aortic stenosis are no longer used to describe this entity. Patients present with or without left ventricular outflow tract (LVOT obstruction. Resting or provocative LVOT obstruction occurs in 70% of patients and is the most common cause of heart failure. The pathology and pathophysiology of HCM includes hypertrophy of the left ventricle with or without right ventricular hypertrophy, systolic anterior motion of mitral valve, dynamic and mechanical LVOT obstruction, mitral regurgitation, diastolic dysfunction, myocardial ischemia, and fibrosis. Thorough understanding of pathology and pathophysiology is important for anesthetic and surgical management.

  13. Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype

    Directory of Open Access Journals (Sweden)

    Juan Pablo Kaski

    2012-10-01

    Full Text Available Restrictive cardiomyopathy (RCM is defined on the basis of the haemodynamic finding of restrictive ventricular physiology. However, restrictive ventricular pathophysiology is also a feature of other subtypes of cardiomyopathy, including hypertrophic cardiomyopathy (HCM. Clinically and aetiologically, there is an overlap between RCM and HCM with restrictive physiology. However, the clinical distinction between these two entities can be an important pointer towards the underlying aetiology. This review highlights the importance of the recognition of the clinical phenotype as the first step in the classification of cardiomyopathies.

  14. 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

  15. Transcriptional regulation of cardiac genes balance pro- and anti-hypertrophic mechanisms in hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Nina Gennebäck

    2012-06-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is characterized by unexplained left ventricular hypertrophy. HCM is often hereditary, but our knowledge of the mechanisms leading from mutation to phenotype is incomplete. The transcriptional expression patterns in the myocar - dium of HCM patients may contribute to understanding the mechanisms that drive and stabilize the hypertrophy. Cardiac myectomies/biopsies from 8 patients with hypertrophic obstructive cardiomyopathy (HOCM and 5 controls were studied with whole genome Illumina microarray gene expression (detecting 18 189 mRNA. When comparing HOCM myocardium to controls, there was significant transcriptional down-regulation of the MYH6, EGR1, APOB and FOS genes, and significant transcriptional up-regulation of the ACE2, JAK2, NPPA (ANP, APOA1 and HDAC5 genes. The transcriptional regulation revealed both pro- and anti-hypertrophic mechanisms. The pro-hypertrophic response was explained by the transcriptional down-regulation of MYH6, indicating that the switch to the fetal gene program is maintained, and the transcriptional up-regulation of JAK2 in the JAK-STAT pathway. The anti-hypertrophic response was seen as a transcriptional down-regulation of the immediate early genes (IEGs, FOS and EGR1, and a transcriptional up-regulation of ACE2 and HDAC5. This can be interpreted as a transcriptional endogenous protection system in the heart of the HOCM patients, neither growing nor suppressing the already hypertrophic myocardium.

  16. Hypertrophic Obstructive Cardiomyopathy and Takotsubo Syndrome: Could They Coexist?

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    Egea-Serrano

    2015-11-01

    Full Text Available Introduction Takotsubo syndrome (TKS is generally caused by a stressful condition, and it usually has a good prognosis after the recovery of left ventricular function. About 70% of the cases of hypertrophic cardiomyopathy may develop obstruction in the left ventricular outflow tract (LVOT, which is responsible for heart failure. Case Presentation We present a unique case where TKS occurred in a middle-aged male patient with hypertrophic obstructive cardiomyopathy (HOCM without a clearly identifiable initial stress trigger. Conclusions In the setting of acute left ventricular function depression in HOCM, a comprehensive differential diagnosis should be established. Treatment should be based on hemodynamic changes. After recovery, the prognosis is related to HOCM.

  17. 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)

  18. Cardiac troponin T mutations in Chinese patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    吴恒芳; 杨笛; 万文辉; 卞智萍; 徐晋丹; 马文珠; 张寄南

    2004-01-01

    @@ Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by unexplained ventricular hypertrophy and myofibrillar disarray, with a prevalence of about 0.2% in general population. HCM is associated with gene abnormalities. Nearly 200 mutations have been described in ten genes in patients with HCM.1 Cardiac troponin T (cTnT) is an essential component of the troponin complex and plays a central role in the calcium regulation of contractions in cardiac myocytes

  19. Utilizing ECG-based Heartbeat Classification for Hypertrophic Cardiomyopathy Identification

    OpenAIRE

    Rahman, Quazi Abidur; Tereshchenko, Larisa G.; Kongkatong, Matthew; Abraham, Theodore; Abraham, M. Roselle; Shatkay, Hagit

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease where the heart muscle is partially thickened and blood flow is (potentially fatally) obstructed. A test based on electrocardiograms (ECG) that record the heart electrical activity can help in early detection of HCM patients. This paper presents a cardiovascular-patient classifier we developed to identify HCM patients using standard 10-seconds, 12-lead ECG signals. Patients are classified as having HCM if the majority of their reco...

  20. The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance

    OpenAIRE

    Noureldin Radwa A; Liu Songtao; Nacif Marcelo S; Judge Daniel P; Halushka Marc K; Abraham Theodore P; Ho Carolyn; Bluemke David A

    2012-01-01

    Abstract Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the heart. HCM is characterized by a wide range of clinical expression, ranging from asymptomatic mutation carriers to sudden cardiac death as the first manifestation of the disease. Over 1000 mutations have been identified, classically in genes encoding sarcomeric proteins. Noninvasive imaging is central to the diagnosis of HCM and cardiovascular magnetic resonance (CMR) is increasingly used to characterize morp...

  1. Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

    OpenAIRE

    Wilson Mathew G; Chandra Navin; Papadakis Michael; O'Hanlon Rory; Prasad Sanjay K; Sharma Sanjay

    2011-01-01

    Abstract Regular and prolonged exercise is associated with increased left ventricular wall thickness that can overlap with hypertrophic cardiomyopathy (HCM). Differentiating physiological from pathological hypertrophy has important implications, since HCM is the commonest cause of exercise-related sudden cardiac death in young individuals. Most deaths have been reported in intermittent 'start-stop' sports such as football (soccer) and basketball. The theory is that individuals with HCM are un...

  2. Clinical and morphological features of hypertrophic cardiomyopathy in Korean patients.

    OpenAIRE

    Park, Y. B.; Lee, W S; Kim, D. K.; Choi, Y. S.; Seo, J. D.; Lee, Y. W.

    1989-01-01

    Thirty three cases of hypertrophic cardiomyopathy (HCMP) were reviewed to estimate the relative frequencies of the subtypes of HCMP and to clarify whether there is any racial difference in clinical and morphological features of HCMP. The diagnosis was made by echocardiography, cardiac catheterization and left ventriculography. Twenty four patients underwent coronary angiogram. Numbers of cases by the types of HCMP were 20 (61%) with asymmetrical septal hypertrophy (ASH), 11 (33%) with apical ...

  3. Familial hypertrophic cardiomyopathy: vectorcardiographic findings in echocardiographically unaffected relative.

    Science.gov (United States)

    Loperfido, F; Fiorilli, R; Digaetano, A; Di Gennaro, M; Santarelli, P; Bellocci, F; Coppola, E; Zecchi, P

    1982-01-01

    The electrocardiographic and vectorcardiographic (Frank system) features of the first degree relatives of subjects with documented familial hypertrophic cardiomyopathy were analysed. A total of nine affected members and 29 relatives were examined in four families. THe subjects were considered to be affected when the septal to free posterior wall thickness ratio exceeded 1.3 at M-mode echocardiography. Four relatives had asymmetric septal hypertrophy. Among 25 relatives without evidence of asymmetric septal hypertrophy, two over 20 years and 10 under 20 years of age showed increased voltage of QRS anterior forces (Qz amplitude greater than 0.80 mV) on the orthogonal electrocardiogram. The vectorcardiographic data of the relatives under 20 years of age without evidence of asymmetric septal hypertrophy (18 subjects) were compared with those of 38 normal control subjects of comparable age range. The young relatives without disproportionate septal hypertrophy had significantly greater Qz amplitude and Q/Rz ratio than the normal control subjects. In contrast, the echocardiographic data were not significantly different. We suggest that the electrocardiographic finding of abnormal anterior forces in one or more first degree relatives of subjects with documented hypertrophic cardiomyopathy may constitute a valuable aid in ascertaining the genetic transmission of the disease and in recognising affected members without echocardiographic evidence of hypertrophic cardiomyopathy. Images PMID:7200794

  4. Surgical outcomes and strategy of hypertrophic obstructive cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    ZHU Ya-bin; RAJAN S.; KURIAN V.M.; LIU Zhi-yong

    2006-01-01

    Objective: To evaluate the surgical clinical results of hypertrophic obstructive cardiomyopathy. Methods: We retrospectively collected data on 24 patients who underwent surgical management in the past ten years in two hospitals in China and Madras Medical Mission in India. Myomectomy was carried out on all patients. Among them 3 patients underwent mitral valve replacement; 2 patients underwent mitral valve repair (anterior mitral leaflet plication); 2 patients underwent aortic valve replacement; 1 patient underwent aortic valve repair; 2 patients underwent aortic root replacement; 1 patient underwent Bentall's procedure and 1 patient underwent coronary artery bypass grafting because of a breached muscle bridge. Results: One patient died of post-operative heart failure. The mean follow-up time was 4.3 years. There was significant improvement in the symptomatic status. Sixteen patients were asymptomatic with good effort tolerance and only four patients had New York heart association (NYHA) Classes Ⅰ~Ⅱ due to associated valvular lesions. Conclusion: Our experience proved that symptomatic hypertrophic obstructive cardiomyopathy or non-symptomatic hypertrophic obstructive cardiomyopathy with combined heart disease is indication for surgery as surgical intervention could get better clinical results in this kind of patients compared with other non-surgical method because it beneficially reduces the systolic anterior motion (SAM) of the mitral valve leaflet, which could not be avoided by other non-surgical treatment.

  5. Systolic Compression of Epicardial Coronary and Intramural Arteries: in Children with Hypertrophic Cardiomyopathy

    OpenAIRE

    Mohiddin, Saidi A; Fananapazir, Lameh

    2002-01-01

    It has been suggested that systolic compression of epicardial coronary arteries is an important cause of myocardial ischemia and sudden death in children with hypertrophic cardiomyopathy. We examined the associations between sudden death, systolic coronary compression of intra- and epicardial arteries, myocardial perfusion abnormalities, and severity of hypertrophy in children with hypertrophic cardiomyopathy.

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

    OpenAIRE

    Cristina Blesneac; Carmen Şuteu; Rodica Togănel; Theodora Benedek; Benedek I.

    2015-01-01

    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.

  7. 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...

  8. Spiral hypertrophic cardiomyopathy as detected by cardiac magnetic resonance.

    Science.gov (United States)

    Amin, Nessim; Williams, Ronald B; Yarmozik, June A; Biederman, Robert W W

    2014-03-01

    Hypertrophic cardiomyopathy (HCM) is a genetically determined heart muscle disease; characterized by left ventricular hypertrophy (LVH). Spiral HCM is described as having a counterclockwise rotation pattern of hypertrophy along with variable degrees of fibrosis. A 34-year-old female presented with symptoms suggestive of heart failure. Echocardiography showed concentric LVH with normal contractility. Cardiac MRI showed asymmetric septal hypertrophy with mid-cavity obliteration and a spiral pattern of variably increasing wall thickness. Late gadolinium enhancement (LGE) demonstrated several areas of abnormal postgadolinium uptake. We report a case of spiral HCM. We should consider cardiovascular magnetic resonance (CMR) as the reference standard for diagnosing HCM. PMID:24749165

  9. Hypertrophic Cardiomyopathy as a Manifestation of Multiple Myeloma

    Institute of Scientific and Technical Information of China (English)

    Haojian Dong; Yingling Zhou

    2008-01-01

    Multiple myeloma (MM) is a malignancy of the plasma cell characterized by migration and localization to the bone marrow where cells then disseminate and facilitate the formation of bone lesions.It is associated with a constellation of disease manifestations,apart from osteolytic lesions,anemia and immuno-suppression due to loss of normal hematopoieric stem cell function,and cardiac amyloidosis due to monoclonal immunoglobulin secretion as well[1].Amyloid infiltration of the heart may frequently masquerade as hypertrophic cardiomyopathy (HCM).HCM,of which underlying cause and pathogenesis are largely unknown,is characterized by left and/or right ventricular hypertrophy,with predominant involvement of the interventricular septum in the absence of other causes of hypertrophy,such as hypertension or valvular heart diseases[2].While excessive hypertrophy of the myocardium is most commonly associated with myocyte hypertrophy,infiltration with amyloid always needs to be considered.In this report we presented two cases of multiple myeloma that mimicked hypertrophic cardiomyopathy so closely that it required bone marrow or endomyocardial biopsy to establish the diagnosis.

  10. Subaortic and midventricular obstructive hypertrophic cardiomyopathy with extreme segmental hypertrophy

    Directory of Open Access Journals (Sweden)

    Karoulas Takis

    2007-03-01

    Full Text Available Abstract Background Subaortic and midventricular hypertrophic cardiomyopathy in a patient with extreme segmental hypertrophy exceeding the usual maximum wall thickness reported in the literature is a rare phenomenon. Case Presentation A 19-year-old man with recently diagnosed hypertrophic cardiomyopathy (HCM was referred for sudden death risk assessment. The patient had mild exertional dyspnea (New York Heart Association functional class II, but without syncope or chest pain. There was no family history of HCM or sudden death. A two dimensional echocardiogram revealed an asymmetric type of LV hypertrophy; anterior ventricular septum = 49 mm; posterior ventricular septum = 20 mm; anterolateral free wall = 12 mm; and posterior free wall = 6 mm. The patient had 2 types of obstruction; a LV outflow obstruction due to systolic anterior motion of both mitral leaflets (Doppler-estimated 38 mm Hg gradient at rest; and a midventricular obstruction (Doppler-estimated 43 mm Hg gradient, but without apical aneurysm or dyskinesia. The patient had a normal blood pressure response on exercise test and no episodes of non-sustained ventricular tachycardia in 24-h ECG recording. Cardiac MRI showed a gross late enhancement at the hypertrophied septum. Based on the extreme degree of LV hypertrophy and the myocardial hyperenhancement, an implantation of a cardioverter-defibrillator was recommended prophylactically for primary prevention of sudden death. Conclusion Midventricular HCM is an infrequent phenotype, but may be associated with an apical aneurysm and progression to systolic dysfunction (end-stage HCM.

  11. [A clinical study of hypertrophic obstructive cardiomyopathy in the elderly].

    Science.gov (United States)

    Chida, K; Ohkawa, S; Maeda, S; Kuboki, K; Imai, T; Sakai, M; Watanabe, C; Matsushita, S; Ueda, K; Kuramoto, K

    1990-09-01

    Seven elderly patients with hypertrophic obstructive cardiomyopathy (HOCM), who had the three following characteristics on echocardiograms 1) extremely thickened septum, 2) systolic anterior motion of the mitral valve, 3) mid systolic semi-closure of the aortic valve, were clinically evaluated. Ages ranged from 73 to 86 years old (average 78.9% yr.) and all were women. None had not a family history of hypertrophic cardiomyopathy but they had mild hypertension. Six patients showed a significant high voltage on the ST-segment and T-wave abnormalities ("strain" pattern). The left ventricular posterior wall as well as the septum was thickened in 5 and the remaining 2 showed asymmetrical septal hypertrophy (ASH) on echocardiograms. The left ventricular cavity was narrowed due to left ventricular hypertrophy and the shape of the left ventricular cavity was ovoid in all patients. The aorto-septal angles in these 7 patients were 80 degrees to 120 degrees. In addition, proximal septal bulge in all and anterior displacement of the mitral posterior leaflet due to the mitral ring calcification (MRC) in some patients contributed to the narrowing of the left ventricular outflow tract, and the mitral valve was pulled up toward the septum because of the good left ventricular systolic function (ejection fraction: 70 to 94% by echocardiography) and blood was ejected at a high velocity through a narrowed outflow tract (Venturi effect). Pressure gradients in the left ventricular outflow tract was 38 to 146 mmHg in 5 examined by cardiac catheterization. Biopsy specimens were obtained from 2 patients, showing hypertrophic myocytes (diameter: 20 to 30 micron) in 2 and mild disarray in 1.(ABSTRACT TRUNCATED AT 250 WORDS)

  12. Exercise echocardiography in the evaluation of obstructive types of hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    邵春丽

    2013-01-01

    Objective To assess the condition of left ventricular outflow tract obstruction (LVOTO) under resting conditions and physiological exercise in hypertrophic cardiomyopathy (HCM) patients.Methods A total of 60 patients with HCM and left ventricular outflow tract gradient

  13. Long-term benefit of myectomy and anterior mitral leaflet extension in obstructive hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Vriesendorp, Pieter A; Schinkel, Arend F L; Soliman, Osama I I; Kofflard, Marcel J M; de Jong, Peter L; van Herwerden, LA; Ten Cate, Folkert J; Michels, Michelle

    2015-01-01

    Severely symptomatic patients with obstructive hypertrophic cardiomyopathy (HC) may benefit from surgical myectomy. In patients with enlarged mitral leaflets and mitral regurgitation, myectomy can be combined with anterior mitral leaflet extension (AMLE) to stiffen the midsegment of the leaflet. The

  14. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive.

    Science.gov (United States)

    Pinto, Raimundo José Almeida de Oliveira; Santos, Adaílton Araújo dos; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical evaluation enabled hypothetical diagnosis of hypertrophic obstructive cardiomyopathy and Ehlers-Danlos syndrome. Initial electrocardiogram, echocardiogram and 24 hours holter allowed the confirmation of the first hypothesis. A skin biopsy performed later associated clinical data and confirmed the second hypothesis. PMID:26312722

  15. 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...

  16. Clinical utility of natriuretic peptides and troponins in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kehl, Devin W; Buttan, Anshu; Siegel, Robert J; Rader, Florian

    2016-09-01

    The diagnosis of hypertrophic cardiomyopathy (HCM) is based on clinical, echocardiographic and in some cases genetic findings. However, prognostication remains limited except in the subset of patients with high-risk indicators for sudden cardiac death. Additional methods are needed for risk stratification and to guide clinical management in HCM. We reviewed the available data regarding natriuretic peptides and troponins in HCM. Plasma levels of natriuretic peptides, and to a lesser extent serum levels of troponins, correlate with established disease markers, including left ventricular thickness, symptom status, and left ventricular hemodynamics by Doppler measurements. As a reflection of left ventricular filling pressure, natriuretic peptides may provide an objective measure of the efficacy of a specific therapy. Both natriuretic peptides and troponins predict clinical risk in HCM independently of established risk factors, and their prognostic power is additive. Routine measurement of biomarker levels therefore may be useful in the clinical evaluation and management of patients with HCM.

  17. Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

    Directory of Open Access Journals (Sweden)

    Wilson Mathew G

    2011-11-01

    Full Text Available Abstract Regular and prolonged exercise is associated with increased left ventricular wall thickness that can overlap with hypertrophic cardiomyopathy (HCM. Differentiating physiological from pathological hypertrophy has important implications, since HCM is the commonest cause of exercise-related sudden cardiac death in young individuals. Most deaths have been reported in intermittent 'start-stop' sports such as football (soccer and basketball. The theory is that individuals with HCM are unable to augment stroke volume sufficiently to meet the demands of endurance sports and are accordingly 'selected-out' of participation in such events. We report the case of an ultra-endurance athlete with 25 years of > 50 km competitive running experience, with genetically confirmed HCM; thereby demonstrating that these can be two compatible entities.

  18. Serious arrhythmias in patients with apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    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 123I-MIBG regional reduction in the tracer uptake. In two patients with ventricular fibrillation (VF), the findings from 123I-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)

  19. Hypertrophic Cardiomyopathy: How do Mutations Lead to Disease?

    Energy Technology Data Exchange (ETDEWEB)

    Marsiglia, Júlia Daher Carneiro, E-mail: julia.marsiglia@usp.br; Pereira, Alexandre Costa [Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP (Brazil)

    2014-03-15

    Hypertrophic cardiomyopathy (HCM) is the most common monogenic genetic cardiac disease, with an estimated prevalence of 1:500 in the general population. Clinically, HCM is characterized by hypertrophy of the left ventricle (LV) walls, especially the septum, usually asymmetric, in the absence of any cardiac or systemic disease that leads to a secondary hypertrophy. The clinical course of the disease has a large inter- and intrafamilial heterogeneity, ranging from mild symptoms of heart failure late in life to the onset of sudden cardiac death at a young age and is caused by a mutation in one of the genes that encode a protein from the sarcomere, Z-disc or intracellular calcium modulators. Although many genes and mutations are already known to cause HCM, the molecular pathways that lead to the phenotype are still unclear. This review focus on the molecular mechanisms of HCM, the pathways from mutation to clinical phenotype and how the disease's genotype correlates with phenotype.

  20. Hypertrophic cardiomyopathy with Jeune syndrome: The first reported case.

    Science.gov (United States)

    Güvenç, Osman; Sündüs Uygun, Saime; Çimen, Derya; Aslan, Eyüp; Annagür, Ali

    2016-09-01

    Jeune syndrome (Asphyxiating thoracic dysplasia) is a rare dystrophy of the skeleton, inherited as an autosomal recessive condition. Patients develop a narrowed thorax, rhizomelic dwarfism, and hepatic, renal, and pancreatic abnormalities. High rates of pulmonary hypoplasia and pulmonary hypertension have been reported. Some patients die in early stages of life due to respiratory failure. The case of a patient referred with a history of severe asphyxiating birth, who had been diagnosed with Jeune syndrome and later hypertrophic cardiomyopathy (HCM) upon echocardiographic examination is described in the present report. This rare disease is discussed with respect to the current literature, as the present is the first reported case to be accompanied by HCM. PMID:27665332

  1. 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)

  2. Clinical utility of natriuretic peptides and troponins in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Kehl, Devin W; Buttan, Anshu; Siegel, Robert J; Rader, Florian

    2016-09-01

    The diagnosis of hypertrophic cardiomyopathy (HCM) is based on clinical, echocardiographic and in some cases genetic findings. However, prognostication remains limited except in the subset of patients with high-risk indicators for sudden cardiac death. Additional methods are needed for risk stratification and to guide clinical management in HCM. We reviewed the available data regarding natriuretic peptides and troponins in HCM. Plasma levels of natriuretic peptides, and to a lesser extent serum levels of troponins, correlate with established disease markers, including left ventricular thickness, symptom status, and left ventricular hemodynamics by Doppler measurements. As a reflection of left ventricular filling pressure, natriuretic peptides may provide an objective measure of the efficacy of a specific therapy. Both natriuretic peptides and troponins predict clinical risk in HCM independently of established risk factors, and their prognostic power is additive. Routine measurement of biomarker levels therefore may be useful in the clinical evaluation and management of patients with HCM. PMID:27236124

  3. Cine magnetic resonance imaging in hypertrophic cardiomyopathy. Evaluation of left ventricular wall thickness and systolic function

    International Nuclear Information System (INIS)

    Cine magnetic resonance imaging (MRI) was performed on 21 patients with hypertrophic cardiomyopathy and left ventricular (LV) regional systolic function was quantitatively evaluated. The visual evaluation of hypertrophic regions and the motion patterns of their walls on cine MR images was possible in most cases. However, this evaluation was subjective and a quantitative analysis was difficult. Septal and posterior wall thickness measured on cine MRI correlated well with those obtained by ultrasound cardiogram (UCG). There was also a good correlation between % thickness of LV wall and its thickness at end diastolic phase. Comparison of % thickness between normal subjects and hypertrophic cardiomyopathies showed a tendency of it being less at the region of more severe hypertrophic change. We conclude that cine MRI is a useful means to analyse the anatomical feature and functional change in hypertrophic cardiomyopathy. (author)

  4. 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.

  5. What Do Patients With Hypertrophic Cardiomyopathy Die from?

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Casey, Susan A; Garberich, Ross F; Maron, Martin S

    2016-02-01

    Hypertrophic cardiomyopathy (HC) has become a contemporary and treatable genetic heart disease, now with disease-related mortality reduced to as low as 0.5% per year, based largely on more effective risk stratification and the use of the implantable cardioverter-defibrillator for primary prevention of sudden death. This paradigm change in the natural history of HC has caused us to reconsider the overall mortality risk in this disease. We interrogated the databases of 2 HC referral centers, Minneapolis Heart Institute and Tufts Medical Center. Of 1,902 consecutive patients evaluated between 1992 and 2013, 1,653 patients (87%) have survived to the end of follow-up and 249 patients (13%) have died. Most deaths (178 of 249; 72%) were unrelated to HC, commonly because of cancer and predominantly in older patients. Non-HC mortality was significantly more common in adults presenting ≥ 60 years and least common in the youngest patients aged deaths from non-HC causes substantially exceeded HC-related causes by 2.6-fold (p disease, including predominantly those who were disease. PMID:26718233

  6. Hypertrophic cardiomyopathy: from gene defect to clinical disease

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Major advances have been made over the last decade in our understanding of the molecular basis ofseveral cardiac conditions. Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in whicha genetic basis was identified and as such, has acted as a paradigm for the study of an inherited cardiacdisorder. HCM can result in clinical symptoms ranging from no symptoms to severe heart failure andpremature sudden death. HCM is the commonest cause of sudden death in those aged less than 35 years,including competitive athletes. At least ten genes have now been identified, defects in which cause HCM.All of these genes encode proteins which comprise the basic contractile unit of the heart, i.e. the sarcomere.While much is now known about which genes cause disease and the various clinical presentations, very littleis known about how these gene defects cause disease, and what factors modify the expression of the mutantgenes. Studies in both cell culture and animal models of HCM are now beginning to shed light on thesignalling pathways involved in HCM, and the role of both environmental and genetic modifying factors.Understanding these mechanisms will ultimately improve our knowledge of the basic biology of heart musclefunction, and will therefore provide new avenues for treating cardiovascular disease in man.

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

    Directory of Open Access Journals (Sweden)

    Christian M Hagen

    Full Text Available 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. Several polymorphic mtDNA variants are associated with a variety of late-onset degenerative diseases and affect mitochondrial function. We examined the role of private, non-haplogroup associated, mitochondrial variants in the etiology of HCM. In 87 Danish HCM patients, full mtDNA sequencing revealed 446 variants. After elimination of 312 (69.9% non-coding and synonymous variants, a further 109 (24.4% with a global prevalence > 0.1%, three (0.7% haplogroup associated and 19 (2.0% variants with a low predicted in silico likelihood of pathogenicity, three variants: MT-TC: m.5772G>A, MT-TF: m.644A>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.

  8. Diastolic filling in a physical model of obstructive hypertrophic cardiomyopathy

    Science.gov (United States)

    Schovanec, Joseph; Samaee, Milad; Lai, Hong Kuan; Santhanakrishnan, Arvind

    2015-11-01

    Hypertrophic Cardiomyopathy (HCM) is an inherited heart disease that affects as much as one in 500 individuals, and is the most common cause of sudden death in young athletes. The myocardium becomes abnormally thick in HCM and deforms the internal geometry of the left ventricle (LV). Previous studies have shown that a vortex is formed during diastolic filling, and further that the dilated LV morphology seen in systolic heart failure results in altering the filling vortex from elliptical to spherical shape. We have also previously shown that increasing LV wall stiffness decreases the filling vortex circulation. However, alterations to intraventricular filling fluid dynamics due to an obstructive LV morphology and locally elevated wall stiffness (in the hypertrophied region) have not been previously examined from a mechanistic standpoint. We conducted an experimental study using an idealized HCM physical model and compared the intraventricular flow fields obtained from 2D PIV to a baseline LV physical model with lower wall stiffness and anatomical geometry. The obstruction in the HCM model leads to earlier breakdown of the filling vortex as compared to the anatomical LV. Intraventricular filling in both models under increased heart rates will be discussed.

  9. ASSESSMENT OF DIASTOLIC FUNCTION IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY BY DOPPLER TISSUE IMAGING

    Institute of Scientific and Technical Information of China (English)

    Jing Li; Yan-ling Liu; Hao Wang; Xiu-zhang Lü; Hong-chang Yang; Fu-jian Duan; Zhen-hui Zhu

    2004-01-01

    Objective To determine the clinical application of pulsed Doppler tissue imaging in assessing the left ventricular diastolic function and in discriminating between normal subjects and patients with hypertrophic cardiomyopathy with various stages of diastolic dysfunction.Methods We measured the peak diastolic velocities of mitral annulus in 81 patients with hypertrophic cardiomyopathy with various stages of diastolic dysfunction and 50 normal volunteers by Doppler tissue imaging using the apical window at 2-chamber and long apical views, respectively. The myocardial velocities were determined with use of variance F statistical analysis.Results Early diastolic myocardial velocities ofmitral annulus were higher in normal subjects than in patients with hypertrophic cardiomyopathy with either delayed relaxation, pseudonormal filling, or restrictive filling. However, peak myocardial velocities of mitral annulus during atrial contraction were similar in normal subjects and patients with hypertrophic cardiomyopathy.Conclusion Doppler tissue imaging can directly reflect upon left diastolic ventricular function. Early phase of diastole was the best discriminator between control subjects and patients with hypertrophic cardiomyopathy.

  10. Occurrence of Clinically Diagnosed Hypertrophic Cardiomyopathy in the United States.

    Science.gov (United States)

    Maron, Martin S; Hellawell, Jennifer L; Lucove, Jaime C; Farzaneh-Far, Ramin; Olivotto, Iacopo

    2016-05-15

    Hypertrophic cardiomyopathy (HC) is the most common genetic heart disease and an important cause of sudden death and heart failure symptoms. The current prevalence for HC (1:500) is based on echocardiographic population studies in which a substantial proportion of affected subjects have not come to clinical recognition. Therefore, we sought to define the subset of patients with HC who are diagnosed in the US. A proprietary integrated claims database including medical condition International Classification of Diseases, Ninth Revision diagnostic codes for over 160 million individual patients in the US was interrogated for 2013 to identify the prevalence of clinically recognized HC. Patients with ≥1 claim for any of the HC International Classification of Diseases, Ninth Revision diagnosis codes from January to December 2013 were identified. The combined occurrence rate of HC was stratified by age and gender and multiplied by the 2013 United States population in the same age/gender categories to produce the final projected prevalence. The analysis was performed on 169,089,614 patients, of whom 59,009 unique patients were identified with ≥1 claim for HC. The projected estimated occurrence of diagnosed HC in the US in 2013 was 1:3,195 for a total of 98,958 subjects. Average age at HC diagnosis was in the fifth decade of life, with 43% of the cohort composed of women. In conclusion, leveraging a claims-based data analytic technique, about 100,000 patients are diagnosed clinically with HC in the US, an occurrence which is less than the prevalence reported in systematic population studies based on echocardiographic diagnosis. This observation supports the view that many patients with HC are undiagnosed throughout life and enhances our understanding of the burden of this genetic heart disease on the health care system. PMID:27006153

  11. CMR findings in patients with hypertrophic cardiomyopathy and atrial fibrillation

    Directory of Open Access Journals (Sweden)

    Dinter Dietmar

    2009-09-01

    Full Text Available Abstract Objectives We sought to evaluate the relation between atrial fibrillation (AF and the extent of myocardial scarring together with left ventricular (LV and atrial parameters assessed by late gadolinium-enhancement (LGE cardiovascular magnetic resonance (CMR in patients with hypertrophic cardiomyopathy (HCM. Background AF is the most common arrhythmia in HCM. Myocardial scarring is also identified frequently in HCM. However, the impact of myocardial scarring assessed by LGE CMR on the presence of AF has not been evaluated yet. Methods 87 HCM patients underwent LGE CMR, echocardiography and regular ECG recordings. LV function, volumes, myocardial thickness, left atrial (LA volume and the extent of LGE, were assessed using CMR and correlated to AF. Additionally, the presence of diastolic dysfunction and mitral regurgitation were obtained by echocardiography and also correlated to AF. Results Episodes of AF were documented in 37 patients (42%. Indexed LV volumes and mass were comparable between HCM patients with and without AF. However, indexed LA volume was significantly higher in HCM patients with AF than in HCM patients without AF (68 ± 24 ml·m-2 versus 46 ± 18 ml·m-2, p = 0.0002, respectively. The mean extent of LGE was higher in HCM patients with AF than those without AF (12.4 ± 14.5% versus 6.0 ± 8.6%, p = 0.02. When adjusting for age, gender and LV mass, LGE and indexed LA volume significantly correlated to AF (r = 0.34, p = 0.02 and r = 0.42, p Conclusion HCM patients with AF display significantly more LGE than HCM patients without AF. However, the extent of LGE is inferior to the LA size for predicting AF prevalence. LA dilation is the strongest determinant of AF in HCM patients, and is related to the extent of LGE in the LV, irrespective of LV mass.

  12. A Murine Hypertrophic Cardiomyopathy Model: The DBA/2J Strain.

    Directory of Open Access Journals (Sweden)

    Wenyuan Zhao

    Full Text Available Familial hypertrophic cardiomyopathy (HCM is attributed to mutations in genes that encode for the sarcomere proteins, especially Mybpc3 and Myh7. Genotype-phenotype correlation studies show significant variability in HCM phenotypes among affected individuals with identical causal mutations. Morphological changes and clinical expression of HCM are the result of interactions with modifier genes. With the exceptions of angiotensin converting enzyme, these modifiers have not been identified. Although mouse models have been used to investigate the genetics of many complex diseases, natural murine models for HCM are still lacking. In this study we show that the DBA/2J (D2 strain of mouse has sequence variants in Mybpc3 and Myh7, relative to widely used C57BL/6J (B6 reference strain and the key features of human HCM. Four-month-old of male D2 mice exhibit hallmarks of HCM including increased heart weight and cardiomyocyte size relative to B6 mice, as well as elevated markers for cardiac hypertrophy including β-myosin heavy chain (MHC, atrial natriuretic peptide (ANP, brain natriuretic peptide (BNP, and skeletal muscle alpha actin (α1-actin. Furthermore, cardiac interstitial fibrosis, another feature of HCM, is also evident in the D2 strain, and is accompanied by up-regulation of type I collagen and α-smooth muscle actin (SMA-markers of fibrosis. Of great interest, blood pressure and cardiac function are within the normal range in the D2 strain, demonstrating that cardiac hypertrophy and fibrosis are not secondary to hypertension, myocardial infarction, or heart failure. Because D2 and B6 strains have been used to generate a large family of recombinant inbred strains, the BXD cohort, the D2 model can be effectively exploited for in-depth genetic analysis of HCM susceptibility and modifier screens.

  13. Clinical Analysis of 42 Patients With Hypertrophic Cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objectives To investigate the clinical manifestations of hypertrophic cardiomyopathy (HCM), and to find out the clinical clues to avoid misdiagnosis and provide reference for future clinical diagnosis and treatment. Methods A retrospective analysis of 42 consecutive patients with HCM hospitalized in our hospital between January 1995 and December 2002 was explored. Based on the family history of HCM, clinical manifestations, electrocardiogram, echocardiogram, coronary angiography and left ventriculography, the clinical characteristics between HCM patients with left ventricular outflow tract obstruction (HOCM) and HCM patients without obstruction (HNOCM) were compared. The causes of misdiagnosis and losing diagnosis were analysis.Results 13 patients were in HOCM group and 29 patients were in HNOCM group. More patients with syncope were in HOCM group than in HNOCM group (6/13 vs. 2/29, P < 0.05). Patients with ejective murmur were in HOCM group only (P < 0.01). Left ventricular outflow tract pressure gradient (LVOTPG)only observed in HOCM group (P<0.01). Ventricular tachycardia was seen in both groups. 28 out of 42 patients (66.67%) had misdiagnosis, and 4 out of 42 patients (9.53%) had losing diagnosis. Thus, coronary heart disease (CHD) had the highest rate of misdiagnosis. There were 20 CHD patients (71.43%)among 28 patients with misdiagnosis. Hypertension was in 3, congenital heart in 2, cerebro-embolism in 2, and myocarditis in 1. Conclusions For a patient with family history or sudden death history of HCM,unexplained syncope episodes, chest pain (angina),especially in young, an ejection murmur along the left sternum border, the presence of narrow and deep Q waves, or inversion of giant T waves in V3-V6, atrial fibrillation and /or cerebra-embolism echocardiogram should be given. CAG and LVG are necessary only if the result of echo is negative, and the patients with suspected HCM or CHD.

  14. Clinical analysis of 121 patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Shilu Zhao; Hengfang Wu; Jizhen Ma; Xiangjian Chen; Junhong Wang; Di Yang; Jinan Zhang

    2008-01-01

    Objective:Several studies have analyzed the clinical profiles of patients diagnosed with hypertrophic cardiomyopathy(HCM). We sought to identify its characteristics in a regional cohort of Nanjing and its adjacent region. Methods:Clinical profiles of 121 referred patients were collected and analyzed retrospectively. Data including family history, clinical symptoms, electrocardiography and recent echocardiography were collected. Results: The mean age of this population was 42±17 years(range from 6 to 76) at diagnosis of HCM. Most patients were male(60%). 48 patients(39.7%) has a family history, 19 had a sudden death in a first degree relative and 96(792,%) were recognized with cardiac symptoms. Left ventricular outflow obstruction (gradient≥30 mmHg at rest) was presented in 26(21.5%) patients. ECG abnormalities comprised of arrhythmia in 54(51.4%) and abnormal T wave in 72(68.6%) patients. FS were higher in female than male(P=0.001). Among younger patients(age ≤ 50 years), LVDd and LVWP were smaller in females than males(P=0.042 & 0.023 respectvely). In older patients(age > 50 years), LVDs was higher in male(P= 0.016) and EF was higher in female (P=0.048). Conclusion:HCM patients in the region are almost diagnosed with the presentation of cardiac symptoms; those without any symptoms could be recognized by ECG and family screening. Most cardiac hypertrophy affects the interventricular septum. LVDd, LVWP, LVDs, FS and EF showed significant differences related to age and gender.

  15. Utilizing ECG-Based Heartbeat Classification for Hypertrophic Cardiomyopathy Identification.

    Science.gov (United States)

    Rahman, Quazi Abidur; Tereshchenko, Larisa G; Kongkatong, Matthew; Abraham, Theodore; Abraham, M Roselle; Shatkay, Hagit

    2015-07-01

    Hypertrophic cardiomyopathy (HCM) is a cardiovascular disease where the heart muscle is partially thickened and blood flow is (potentially fatally) obstructed. A test based on electrocardiograms (ECG) that record the heart electrical activity can help in early detection of HCM patients. This paper presents a cardiovascular-patient classifier we developed to identify HCM patients using standard 10-second, 12-lead ECG signals. Patients are classified as having HCM if the majority of their recorded heartbeats are recognized as characteristic of HCM. Thus, the classifier's underlying task is to recognize individual heartbeats segmented from 12-lead ECG signals as HCM beats, where heartbeats from non-HCM cardiovascular patients are used as controls. We extracted 504 morphological and temporal features—both commonly used and newly-developed ones—from ECG signals for heartbeat classification. To assess classification performance, we trained and tested a random forest classifier and a support vector machine classifier using 5-fold cross validation. We also compared the performance of these two classifiers to that obtained by a logistic regression classifier, and the first two methods performed better than logistic regression. The patient-classification precision of random forests and of support vector machine classifiers is close to 0.85. Recall (sensitivity) and specificity are approximately 0.90. We also conducted feature selection experiments by gradually removing the least informative features; the results show that a relatively small subset of 264 highly informative features can achieve performance measures comparable to those achieved by using the complete set of features. PMID:25915962

  16. Clinical Characteristics and Prognosis of End-stage Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Yan Xiao

    2015-01-01

    Full Text Available Background: End-stage hypertrophic cardiomyopathy (HCM is complicated by substantial adverse events. However, few studies have focused on electrocardiographic features and their prognostic values in HCM. This study aimed to evaluate the clinical manifestations and prognostic value of electrocardiography in patients with end-stage HCM. Methods: End-stage HCM patients were enrolled from a total of 1844 consecutive HCM patients from April 2002 to November 2013 at Fuwai Hospital. Clinical data, including medical history, electrocardiography, and echocardiography, were analyzed. Cox hazards regression analysis was used to assess the risk factors for cardiovascular mortality. Results: End-stage HCM was identified in 99 (5.4% patients, averaged at 52 ± 16 years old at entry. Atrial fibrillation was observed in 53 patients and mural thrombus in 19 patients. During 3.9 ± 3.0 years of follow-up, embolic stroke, refractory heart failure, and death or transplantation were observed in 20, 39, and 51 patients, respectively. The incidence of annual mortality was 13.2%. Multivariate Cox hazards regression analysis identified New York Heart Association Class (NYHA III/IV at entry (hazard ratio [HR]: 1.99; 95% confidence interval [CI]: 1.05-3.80; P = 0.036, left bundle branch block (LBBB (HR: 2.80; 95% CI: 1.47-5.31; P = 0.002, and an abnormal Q wave (HR: 2.21; 95% CI: 1.16-4.23; P = 0.016 as independent predictors of cardiovascular death, in accordance with all-cause death and heart failure-related death. Conclusions: LBBB and an abnormal Q wave are risk factors of cardiovascular mortality in end-stage HCM and provide new evidence for early intervention. Susceptibility of end-stage HCM patients to mural thrombus and embolic events warrants further attention.

  17. Angiotensin converting enzyme gene polymorphism in familial hypertrophic cardiomyopathy patients

    Energy Technology Data Exchange (ETDEWEB)

    Yu, B; Peric, S.; Ross, D. [Royal Prince Alfred Hospital, Campertown (Australia)] [and others

    1994-09-01

    An insertion/deletion (I/D) polymorphism of the angiotensin I converting enzyme (ACE) gene is a useful predictor of human plasma ACE levels. ACE levels tend to be lowest in subjects with ACE genotype DD and intermediate in subjects with ACE genotype ID. Angiotensin II (Ang II) as a product of ACE is a cardiac growth factor and produces a marked hypertrophy of the chick myocyte in cell culture. Rat experiments also suggest that a small dose of ACE inhibitor that does not affect the afterload results in prevention or regression of cardiac hypertrophy. In order to study the relationship of ACE and the severity of hypertrophy, the ACE genotype has been determined in 28 patients with a clinical diagnosis of familial hypertrophic cardiomyopathy (FHC) and 51 normal subjects. The respective frequencies of I and D alleles were: 0.52 and 0.48 (in FHC patients) and 0.44 and 0.56 (in the normal controls). There was no significant difference in the allele frequencies between FHC and normal subjects ({chi}{sup 2}=0.023, p>0.05). The II, ID, and DD genotypes were present in 7, 15, and 6 FHC patients, respectively. The averages of maximal thickness of the interventricular septum measured by echocardiography or at autopsy were 18 {plus_minus}3, 19{plus_minus}4, and 19{plus_minus}3 mm in II, ID and DD genotypes, respectively. The ACE gene polymorphism did not correlate with the severity of left ventricular hypertrophy in FHC patients (r{sub s}=0.231, p>0.05). These results do not necessarily exclude the possible effect of Ang II on the hypertrophy since the latter may be produced through the action of chymase in the human ventricles. However, ACE gene polymorphism is not a useful predictor of the severity of myocardial hypertrophy in FHC patients.

  18. 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...

  19. Videodensitometric time-density curve change after alcohol septal ablation of obstructive hypertrophic cardiomyopathy.

    Science.gov (United States)

    Nemes, A; Kalapos, A; Sasi, V; Ungi, T; Ungi, I; Forster, T; Sepp, R

    2015-02-01

    A recently developed computerized method for estimation of myocardial perfusion, based on the analysis of the time-density curves, is demonstrated to assess myocardial blush over a selected myocardial region of interest in a patient with obstructive hypertrophic cardiomyopathy before and after alcohol septal ablation. PMID:23184598

  20. Effects of permanent dual chamber pacing on myocardial perfusion in symptomatic hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Posma, JL; Blanksma, PK; VanderWall, EE; Vaalburg, W; Crijns, HJGM; Lie, KI

    1996-01-01

    Objective-Angina and the presence of myocardial ischaemia are common in hypertrophic cardiomyopathy. Dual chamber pacing results in clinical improvement in these patients. This study evaluates the effects of permanent dual chamber pacing on absolute regional myocardial perfusion and perfusion reserv

  1. Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy : Systematic review of clinical risk markers

    NARCIS (Netherlands)

    Christiaans, Imke; Van Engelen, Klaartje; Van Langen, Irene M.; Birnie, Erwin; Bonsel, Gouke J.; Elliott, Perry M.; Wilde, Arthur A.M.

    2010-01-01

    We performed a systematic literature review of recommended 'major' and 'possible' clinical risk markers for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). We searched the Medline, Embase and Cochrane databases for articles published between 1971 and 2007. We included English langua

  2. Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers

    NARCIS (Netherlands)

    I. Christiaans; K. van Engelen; I.M. van Langen; E. Birnie; G.J. Bonsel; P.M. Elliott; A.A.M. Wilde

    2010-01-01

    We performed a systematic literature review of recommended 'major' and 'possible' clinical risk markers for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). We searched the Medline, Embase and Cochrane databases for articles published between 1971 and 2007. We included English langua

  3. Dietary copper supplementation reverses hypertrophic cardiomyopathy induced by chronic pressure overload in mice

    Science.gov (United States)

    Sustained pressure overload causes cardiac hypertrophy and the transition to heart failure. We show here that dietary supplementation with physiologically relevant levels of copper (Cu) reverses pre-established hypertrophic cardiomyopathy in the presence of pressure overload induced by ascending aor...

  4. A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

    NARCIS (Netherlands)

    Jonckheere, A.I.; Hogeveen, M.; Nijtmans, L.G.J.; Brand, M.A.M. van den; Janssen, A.J.M.; Diepstra, J.H.S.; Brandt, FC van den; Heuvel, L.P.W.J. van den; Hol, F.A.; Hofste, T.G.; Kapusta, L.; Dillmann, U.; Shamdeen, M.G.; Smeitink, J.A.M.; Rodenburg, R.J.T.

    2008-01-01

    PURPOSE: To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder. METHODS: Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme

  5. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy

    NARCIS (Netherlands)

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

    2008-01-01

    Hypertrophic cardiomyopathy is a common autosomal dominant disease, associated with heart failure and arrhythmias predisposing to sudden cardiac death. After the detection of the causal mutation in the proband predictive DNA testing of relatives is possible (cascade screening). Prevention of sudden

  6. Mechanisms of the pathogenesis of troponin T-based familial hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Maass, AH; Leinwand, LA

    2003-01-01

    Mutations in cardiac troponin T (cTnT) cause hypertrophic cardiomyopathy characterized by comparatively little cardiac hypertrophy, but a high incidence of sudden cardiac death. Transgenic mice modeling this disease have smaller cardiomyocytes, leading to smaller hearts. However, different mutations

  7. Cosegregation of hypertrophic cardiomyopathy and a fragile site on chromosome 16 in a large Italian family.

    OpenAIRE

    M. Ferraro; Scarton, G; Ambrosini, M

    1990-01-01

    We studied the karyotypes of 10 members of a family in whom hypertrophic cardiomyopathy is segregating as an autosomal dominant trait. In all those affected by the disease, a fragile site on the long arm of chromosome 16 was found, expressed with different frequencies, but the unaffected family members did not show this trait.

  8. Obtaining insurance after DNA diagnostics : A survey among hypertrophic cardiomyopathy mutation carriers

    NARCIS (Netherlands)

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

    2010-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with increased mortality. Disclosure of DNA test results may have social implications such as low access to insurance. In the Netherlands, insurance companies are restricted in the use of genetic information of their c

  9. Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype

    OpenAIRE

    Jassal Davinder S; Soni Reeni; Ariyarajah Vignendra; Strijack Bradford; Greenberg Cheryl R; McGregor Robert; Morris Andrew

    2008-01-01

    Abstract A 35 year-old asymptomatic Caucasian female with a family history of hypertrophic cardiomyopathy (HCM) was referred for cardiologic evaluation. The electrocardiogram and transthoracic echocardiogram were normal. Cardiovascular magnetic resonance (CMR) was performed for further assessment of myocardial function and presence of myocardial scar. CMR showed normal left ventricular systolic size, measurements and function. However, there was extensive, diffuse late gadolinium enhancement ...

  10. Long-term clinical outcome after alcohol septal ablation for obstructive hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Veselka, Josef; Jensen, Morten Kvistholm; Liebregts, Max;

    2016-01-01

    AIMS: The first cases of alcohol septal ablation (ASA) for obstructive hypertrophic cardiomyopathy (HCM) were published two decades ago. Although the outcomes of single-centre and national ASA registries have been published, the long-term survival and clinical outcome of the procedure are still...

  11. 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

    : percutaneous transluminal septal myocardial ablation (PTSMA) of hypertrophic obstructive cardiomyopathy (HOCM). Here the iatrogenic induction of myocardial necrosis occurs in vivo, allowing us to investigate degradation of cTnI by the second. METHODS: Blood samples were obtained from 8 patients with HOCM just...

  12. Regression of outflow tract obstruction subsequent to treatment with verapamil in hypertrophic obstructive cardiomyopathy

    DEFF Research Database (Denmark)

    Frandsen, F; Mickley, H

    1990-01-01

    A 29-year-old man suffering from hypertrophic obstructive cardiomyopathy was treated with verapamil 240 mg daily for 4.5 years. During this period the symptoms were reduced, and an intraventricular gradient diminished from 80 to 20 mm Hg, possibly due to a decrease in left ventricular ejection...

  13. Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers

    NARCIS (Netherlands)

    I. Christiaans; T.M. Kok; I.M. van Langen; E. Birnie; G.J. Bonsel; A.A.M. Wilde; E.M.A. Smets

    2010-01-01

    Hypertrophic cardiomyopathy (HCM) is a common hereditary heart disease associated with increased mortality. Disclosure of DNA test results may have social implications such as low access to insurance. In the Netherlands, insurance companies are restricted in the use of genetic information of their c

  14. 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 d

  15. Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: The patients' perspective

    NARCIS (Netherlands)

    I. Christiaans; I.M. van Langen; E. Birnie; G.J. Bonsel; A.A.M. Wilde; E.M.A. Smets

    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 d

  16. Missense mutation of the {beta}-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Arai, Shoichi; Matsuoka, Rumiko; Hirayama, Kenji; Sakurai, Hisanao [Heart Inst. of Japan, Tokyo (Japan)] [and others

    1995-09-11

    Hypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. We describe a missense mutation of the {beta}-cardiac myosin heavy chain (MHC) gene, a G to T transversion (741 Gly{r_arrow}Trp) identified by direct sequencing of exon 20 in four individuals affected with familial hypertrophic cardiomyopathy. Three individuals with sporadic hypertrophic cardiomyopathy, whose parents are clinically and genetically unaffected, had sequence variations of exon 34 of the {alpha}-cardiac MHC gene (a C to T transversion, 1658 Asp{r_arrow}Asp, resulting in FokI site polymorphism), of intron 33 of the {alpha}-cardiac MHC gene (a G to A and an A to T transversion), and also of intron 14 of the {beta}-cardiac MHC gene (a C to T transversion in a patient with Noonan syndrome). Including our case, 30 missense mutations of the {beta}-cardiac MHC gene in 49 families have been reported thus far worldwide. Almost all are located in the region of the gene coding for the globular head of the molecule, and only one mutation was found in both Caucasian and Japanese families. Missense mutations of the {Beta}-cardiac MHC gene in hypertrophic cardiomyopathy may therefore differ according to race. 29 refs., 6 figs., 3 tabs.

  17. 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 ch...

  18. Transcoronary ablation of septal hypertrophy compared with surgery in the treatment of hypertrophic obstructive cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    姜腾勇; 吴学思; 吕强; 孟旭; 贾长琪; 张银

    2004-01-01

    @@ Transcoronary ablation of septal hypertrophy (TASH)can lead to sustained improvement in both hemodynamics and symptoms in patients with hypertrophic obstructive cardiomyopathy ( HOCM ) . 1-4 However, there have been few reports about its efficacy and safety compared with traditional surgical procedures. This study sought to compare TASH with surgery in the treatment of HOCM.

  19. Assessment of quantitative hypertrophy scores in hypertrophic cardiomyopathy : Magnetic resonance imaging versus echocardiography

    NARCIS (Netherlands)

    Posma, JL; Blanksma, PK; vanderWall, EE; Hamer, HPM; Mooyaart, EL; Lie, KI

    1996-01-01

    To compare the diagnostic value of spin-echo magnetic resonance (MR) imaging and transthoracic echocardiography in quantitative assessment of the extent of hypertrophy in patients with hypertrophic cardiomyopathy (HCM), we examined 52 consecutive patients with HCM. The Spirito-Maron and Wigle hypert

  20. 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

  1. A new 4D trajectory-based approach unveils abnormal LV revolution dynamics in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Madeo, Andrea; Piras, Paolo; Re, Federica; Gabriele, Stefano; Nardinocchi, Paola; Teresi, Luciano; Torromeo, Concetta; Chialastri, Claudia; Schiariti, Michele; Giura, Geltrude; Evangelista, Antonietta; Dominici, Tania; Varano, Valerio; Zachara, Elisabetta; Puddu, Paolo Emilio

    2015-01-01

    The assessment of left ventricular shape changes during cardiac revolution may be a new step in clinical cardiology to ease early diagnosis and treatment. To quantify these changes, only point registration was adopted and neither Generalized Procrustes Analysis nor Principal Component Analysis were applied as we did previously to study a group of healthy subjects. Here, we extend to patients affected by hypertrophic cardiomyopathy the original approach and preliminarily include genotype positive/phenotype negative individuals to explore the potential that incumbent pathology might also be detected. Using 3D Speckle Tracking Echocardiography, we recorded left ventricular shape of 48 healthy subjects, 24 patients affected by hypertrophic cardiomyopathy and 3 genotype positive/phenotype negative individuals. We then applied Generalized Procrustes Analysis and Principal Component Analysis and inter-individual differences were cleaned by Parallel Transport performed on the tangent space, along the horizontal geodesic, between the per-subject consensuses and the grand mean. Endocardial and epicardial layers were evaluated separately, different from many ecocardiographic applications. Under a common Principal Component Analysis, we then evaluated left ventricle morphological changes (at both layers) explained by first Principal Component scores. Trajectories' shape and orientation were investigated and contrasted. Logistic regression and Receiver Operating Characteristic curves were used to compare these morphometric indicators with traditional 3D Speckle Tracking Echocardiography global parameters. Geometric morphometrics indicators performed better than 3D Speckle Tracking Echocardiography global parameters in recognizing pathology both in systole and diastole. Genotype positive/phenotype negative individuals clustered with patients affected by hypertrophic cardiomyopathy during diastole, suggesting that incumbent pathology may indeed be foreseen by these methods. Left

  2. A new 4D trajectory-based approach unveils abnormal LV revolution dynamics in hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Andrea Madeo

    Full Text Available The assessment of left ventricular shape changes during cardiac revolution may be a new step in clinical cardiology to ease early diagnosis and treatment. To quantify these changes, only point registration was adopted and neither Generalized Procrustes Analysis nor Principal Component Analysis were applied as we did previously to study a group of healthy subjects. Here, we extend to patients affected by hypertrophic cardiomyopathy the original approach and preliminarily include genotype positive/phenotype negative individuals to explore the potential that incumbent pathology might also be detected. Using 3D Speckle Tracking Echocardiography, we recorded left ventricular shape of 48 healthy subjects, 24 patients affected by hypertrophic cardiomyopathy and 3 genotype positive/phenotype negative individuals. We then applied Generalized Procrustes Analysis and Principal Component Analysis and inter-individual differences were cleaned by Parallel Transport performed on the tangent space, along the horizontal geodesic, between the per-subject consensuses and the grand mean. Endocardial and epicardial layers were evaluated separately, different from many ecocardiographic applications. Under a common Principal Component Analysis, we then evaluated left ventricle morphological changes (at both layers explained by first Principal Component scores. Trajectories' shape and orientation were investigated and contrasted. Logistic regression and Receiver Operating Characteristic curves were used to compare these morphometric indicators with traditional 3D Speckle Tracking Echocardiography global parameters. Geometric morphometrics indicators performed better than 3D Speckle Tracking Echocardiography global parameters in recognizing pathology both in systole and diastole. Genotype positive/phenotype negative individuals clustered with patients affected by hypertrophic cardiomyopathy during diastole, suggesting that incumbent pathology may indeed be foreseen by

  3. Unravelling the grey zone : cardiac MRI volume to wall mass ratio to differentiate hypertrophic cardiomyopathy and the athlete's heart

    NARCIS (Netherlands)

    Luijkx, Tim; Cramer, Maarten J.; Buckens, Constantinus F.; Zaidi, Abbas; Rienks, Rienk; Mosterd, Arend; Prakken, Niek H. J.; Dijkman, Barbara; Mali, Willem P. Th M.; Velthuis, Birgitta K.

    2015-01-01

    Background Differentiating physiological left ventricular hypertrophy (LVH) in athletes from pathological hypertrophic cardiomyopathy (HCM) can be challenging. This study assesses the ability of cardiac MRI (CMR) to distinguish between physiological LVH (so-called athlete's heart) and HCM. Methods 4

  4. Midterm outcomes of percutaneous transluminal septal myocardial ablation in patients with hypertrophic obstructive cardiomyopathy refractory to medication

    Institute of Scientific and Technical Information of China (English)

    CHEN Shao-liang; YE Fei; XU Zu-ling; LIN Song; DUAN Bao-xiang; DAI Zhen-ling; SHAN Shou-jie; ZHANG Jun-jie

    2006-01-01

    @@ Hypertrophic obstructive cardiomyopathy (HOCM)is a genetic disorder characterized by severe asymmetric hypertrophy of the interventricular septum (IVS) in the absence of any other systemic or cardiac diseases.

  5. Cardiac MRI in a Patient with Coincident Left Ventricular Non-Compaction and Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Zahra Alizadeh-Sani

    2011-12-01

    Full Text Available Left ventricular non-compaction cardiomyopathy is a rare congenital cardiomyopathy that affects both children and adults. Since the clinical manifestations are not sufficient to establish diagnosis, echocardiography is the diagnostic tool that makes it possible to document ventricular non-compaction and establish prognostic factors. We report a 47-year-old woman with a history of dilated cardiomyopathy with unknown etiology. Echocardiography showed mild left ventricular enlargement with severe systolic dysfunction (EF = 20-25%. According to cardiac magnetic resonance imaging findings non-compaction left ventricle with hypertrophic cardiomyopathy was considered, and right ventricular septal biopsy was recommended. Right ventricular endomyocardial biopsy showed moderate hypertrophy of cardiac myocytes with foci of myocytolysis and moderate interstitial fibrosis. No evidence of infiltrative deposition was seen.

  6. Genetic Aspects and Family Studies of Noncompaction and Hypertrophic Cardiomyopathy

    NARCIS (Netherlands)

    Y.M. Hoedemaekers (Yvonne)

    2010-01-01

    textabstractThe first reports of familial cardiac disorders appeared over 60 years ago. Since then, knowledge on cardiogenetic disorders has increased tremendously. And now cardiogenetics is a rapidly expanding field, including the familial cardiomyopathies, arrhythmias, congenital heart diseases an

  7. Percutaneous septal ablation for left mid-ventricular obstructive hypertrophic cardiomyopathy: a case report

    Directory of Open Access Journals (Sweden)

    Alioglu Emin

    2006-04-01

    Full Text Available Abstract Background Mid-ventricular obstructive hypertrophic cardiomyopathy (MVOHC is a rare type of cardiomyopathy. The diagnosis is based on the hourglass appearance on the left ventriculogram and the presence of pressure gradient between apical and basal chamber of the ventriculum on the hemodynamic assessment. Case presentation The present case represents successful percutaneous treatment with septal ablation to patient with MVOHC associated with systolic anterior motion of the mitral valve and obstruction at both the mid-ventricular and outflow levels. Conclusion Alcohol septal ablation has been proposed as less invasive alternatives to surgery in patients with MVOHC.

  8. Hypertrophic cardiomyopathy with apical left ventricular aneurysm: a case report

    Institute of Scientific and Technical Information of China (English)

    江腾勇; 韩智红; 王京; 吕强; 吴学思

    2002-01-01

    @@ Morphological diversity is one characteristic of hypertrophic cardi omyopathy (HCM), but it is not common that HCM is associated with apical left ve ntricular aneurysm (LVA) without evidence of a coronary artery lesion. We repor t on such a case and review the pathogenesis, manifestations and diagnostic meth ods by collecting the few available papers published on this topic.

  9. Left Atrial trajectory impairment in Hypertrophic Cardiomyopathy disclosed by Geometric Morphometrics and Parallel Transport

    Science.gov (United States)

    Piras, Paolo; Torromeo, Concetta; Re, Federica; Evangelista, Antonietta; Gabriele, Stefano; Esposito, Giuseppe; Nardinocchi, Paola; Teresi, Luciano; Madeo, Andrea; Chialastri, Claudia; Schiariti, Michele; Varano, Valerio; Uguccioni, Massimo; Puddu, Paolo E.

    2016-01-01

    The analysis of full Left Atrium (LA) deformation and whole LA deformational trajectory in time has been poorly investigated and, to the best of our knowledge, seldom discussed in patients with Hypertrophic Cardiomyopathy. Therefore, we considered 22 patients with Hypertrophic Cardiomyopathy (HCM) and 46 healthy subjects, investigated them by three–dimensional Speckle Tracking Echocardiography, and studied the derived landmark clouds via Geometric Morphometrics with Parallel Transport. Trajectory shape and trajectory size were different in Controls versus HCM and their classification powers had high AUC (Area Under the Receiving Operator Characteristic Curve) and accuracy. The two trajectories were much different at the transition between LA conduit and booster pump functions. Full shape and deformation analyses with trajectory analysis enabled a straightforward perception of pathophysiological consequences of HCM condition on LA functioning. It might be worthwhile to apply these techniques to look for novel pathophysiological approaches that may better define atrio–ventricular interaction. PMID:27713503

  10. 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

    are predictive of an adverse outcome. We aimed to assess the effect of the angiotensin II receptor blocker losartan on left ventricular hypertrophy and fibrosis in patients with hypertrophic cardiomyopathy. METHODS: In this single-centre, randomised, double-blind, placebo-controlled trial, adult patients (aged...... 18 years and older) with obstructive or non-obstructive hypertrophic cardiomyopathy were randomly assigned via computer-based system to losartan (100 mg per day) or placebo for 12 months. Patients and investigators were masked to assigned treatment. The primary endpoint was change in left ventricular......, and May 1, 2013, 318 patients were screened. 133 patients (mean age 52 years [SD 13], 35% women) consented and were randomly assigned to placebo (n=69) or losartan (n=64). 124 (93%) patients completed the study and were included in the modified intention-to-treat analysis for the primary endpoint. After...

  11. An autopsy report of acute myocardial infarction with hypertrophic obstructive cardiomyopathy-like heart.

    Science.gov (United States)

    Ushikoshi, Hiroaki; Okada, Hideshi; Morishita, Kentaro; Imai, Hajime; Tomita, Hiroyuki; Nawa, Takahide; Suzuki, Kodai; Ikeshoji, Haruka; Kato, Hisaaki; Yoshida, Takahiro; Yoshida, Shozo; Shirai, Kunihiro; Toyoda, Izumi; Hara, Akira; Ogura, Shinji

    2015-01-01

    An 84-year-old woman, who was followed up as hypertrophic obstructive cardiomyopathy (HOCM) in a local hospital, was transferred to our center because of anterior chest pain and diagnosed with acute myocardial infarction (MI). Coronary angiography showed total occlusion of the mid-left anterior descending, and flow was restored after endovascular thrombectomy. An autopsy was performed after she died on hospital day 6. At autopsy, there was no significant stenosis in this vessel and the absence of plaque rupture was confirmed. Likewise, it was unclear asymmetric hypertrophy at autopsy, it could not deny that a sigmoid deformity of the basal septum occurs in elderly patients and can mimic the asymmetric septal hypertrophy of hypertrophic cardiomyopathy. MI was thought to be caused by coronary spasm or squeezing in HOCM-like heart. Therefore, it may be necessary antithrombosis therapy in HOCM-like patients with no history of paroxysmal atrial fibrillation.

  12. Hypertrophic Cardiomyopathy (HCM): How Flow Analysis May Drive Medical Management and Surgical Approach

    Science.gov (United States)

    Abraham, Theodore P.

    2011-11-01

    Hypertrophic Cardiomyopathy (HCM) is the most common inherited heart disease and occurs in 1 in 500 persons worldwide regardless of race, age and gender. It is the most common cause of sudden death in the young and also causes heart failure and cardiac arrhythmias. The primary anatomic abnormality is thickening of certain walls, or sometimes global thickening of the left or right ventricle. The patterns of thickening along with increased ventricular stiffness lead to suboptimal ventricular filling and inefficient ejection of blood from the ventricle. Treatment for HCM can be medical or surgical. The choice of therapy is driven by the presence and severity of outflow obstruction. Flow analysis could provide sophisticated information about outflow and inflow ventricular dynamics. These flow dynamics features may enable better medical choices and provide information that would allow superior surgical planning. Associate Professor of Medicine & Director, Hypertrophic Cardiomyopathy Clinic

  13. A Case Report of Percutaneous Transluminal Septal Myocardial Ablation in Patients with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    M.H. Namazi

    2004-10-01

    Full Text Available A number of patients with severe obstruction due to hypertrophic cardiomyopathy have derived benefit at least over the short-term from inventional infarction of a portion of the interventricular septum by the infusion of alcohol into a selectively catheterized septal artery , with reduction of the outflow gradient and improvement in symptoms .This paper contains successful TASH on a symptomatic patient with high LVOT gradient and methods and complications.

  14. Successful Resuscitation from Ventricular Fibrillation during Jogging in a Young Patient with Hypertrophic Cardiomyopathy

    OpenAIRE

    Kose, Noriyuki; Fujiwara, Hideki; Honda, Yuzuru; Doi, Yoshiyuki; Toda, Genii; Yano, Katsusuke; Miyahara, Yoshiyuki; Kohno, Shigeru

    1999-01-01

    A 15-year-old girl, who was previously in good health, suddenly collapsed while jogging. Immediate cardiopulmonary resuscitation (CPR) was initiated, and she arrived at our hospital 13 minutes later. The ventricular fibrillation (VF) on admission was reverted to sinus rhythm 18 minutes after collapse by the second cardioversion. The echocardiogram revealed hypertrophic nonobstructed cardiomyopathy (HNOCM), although the 24hr ambulatory electrocardiographic, electrophysiologic and exercise stre...

  15. Coronary artery ectasia and systolic flow cessation in a patient with hypertrophic cardiomyopathy: a case report.

    Science.gov (United States)

    Zografos, Theodoros; Kokladi, Maria; Katritsis, Demosthenes

    2010-12-01

    Coronary artery ectasia (CAE) is characterized by diffuse or localized inappropriate dilation of coronary arteries and is often associated with slow coronary blood flow. Although CAE has been described to coexist with several clinical entities there are only three reports of CAE in the presence of hypertrophic cardiomyopathy (HCM). We report a case of CAE and slow coronary flow with systolic flow cessation in a 61-year old male with coronary artery disease and HCM.

  16. Detection of hypertrophic cardiomyopathy is improved when using advanced rather than strictly conventional 12-lead electrocardiogram

    OpenAIRE

    Potter, Samara L. Poplack; Holmqvist, Fredrik; Platonov, Pyotr; Steding, Katarina; Arheden, Håkan; Pahlm, Olle; Starc, Vito; McKenna, William J; Schlegel, Todd T

    2010-01-01

    Introduction: Twelve-lead electrocardiogram (ECG) is used to screen for hypertrophic cardiomyopathy (HCM), but up to 25% of HCM patients do not have distinctly abnormal ECGs, whereas up to 5% to 15% of healthy athletes do. We hypothesized that an approximately 5-minute resting advanced 12-lead ECG test ("A-ECG score") could detect HCM with greater sensitivity than pooled conventional ECG criteria and distinguish healthy athletes from HCM with greater specificity. Materials and metho...

  17. Identifying Hypertrophic Cardiomyopathy Patients by Classifying Individual Heartbeats from 12-lead ECG Signals

    OpenAIRE

    Rahman, Quazi Abidur; Tereshchenko, Larisa G.; Kongkatong, Matthew; Abraham, Theodore; Abraham, M. Roselle; Shatkay, Hagit

    2014-01-01

    Test based on electrocardiograms (ECG) that record the heart electrical activity can help in early detection of patients with hypertrophic cardiomyopathy (HCM) where the heart muscle is partially thickened and blood flow is (potentially fatally) obstructed. This paper presents a cardiovascular-patient classifier we developed to identify HCM patients using standard 10-seconds, 12-lead ECG signals. Patients are classified as having HCM if the majority of the heartbeats are recognized as HCM. Th...

  18. Morphological and Electrical Characteristics in Patient with Hypertrophic Cardiomyopathy: Quantitative Analysis of 864 Korean Cohort

    OpenAIRE

    Kim, Sung-Hwan; Oh, Yong-Seog; Nam, Gi-Byoung; Choi, Kee-Joon; Kim, Dae Hee; Song, Jong-Min; Kang, Duk-Hyun; Song, Jae-Kwan; Kim, You-Ho

    2015-01-01

    Purpose Although several studies have reported the morphological and electrical characteristics in patients with hypertrophic cardiomyopathy (HCM), comparison between asymmetric and apical HCM has not been investigated in a reasonably sized cohort. Materials and Methods Echocardiography and electrocardiography were quantitatively analyzed in patients with HCM in a Korean tertiary referral center. Results Of 864 patients (mean age 55.4±14.2 years, 68.9% men), 255 (29.5%) patients had apical HC...

  19. Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers

    OpenAIRE

    Christiaans, Imke; Kok, Tjitske M; 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 increased mortality. Disclosure of DNA test results may have social implications such as low access to insurance. In the Netherlands, insurance companies are restricted in the use of genetic information of their clients by the Medical Examination Act. A cross-sectional survey was used to assess the frequency and type of problems encountered by HCM mutation carriers applying for insurance, and associations w...

  20. Hypertrophic Obstructive Cardiomyopathy in An Infant With Hemophagocytic Lymphohistiocytosis; Answer to a Riddle.

    Science.gov (United States)

    Rabah, Fatma; Beshlawi, Ismail; Wali, Yasser; Al-Rawas, Abdulhakim; Al Senaidi, Khalfan

    2015-08-01

    Familial hemophagocytic lymphohistiocytosis (FHLH) is a hereditary hyperinflammatory condition with T-cell and macrophage activation. Treatment consists of immunosuppressive therapy plus bone marrow transplantation. Cardiac manifestations of FHLH were scarcely mentioned in the literature with conflicting pathophysiological explanations. We report a case of hypertrophic obstructive cardiomyopathy associated with FHLH. Guided by such a case, a clear vision regarding the real cause is thought to be obtained in the cloudy landscape of pathophysiology. PMID:25222062

  1. Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy

    OpenAIRE

    Rosmini, Stefania

    2015-01-01

    Background: Hypertrophic cardiomyopathy (HCM) is a common cardiac disease caused by a range of genetic and acquired disorders. The most common cause is genetic variation in sarcomeric proteins genes. Current ESC guidelines suggest that particular clinical features (‘red flags’) assist in differential diagnosis. Aims: To test the hypothesis that left ventricular (LV) systolic dysfunction in the presence of increased wall thickness is an age-specific ‘red flag’ for aetiological diagnosis an...

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

    OpenAIRE

    Lothar Faber

    2014-01-01

    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 diagnos...

  3. 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...... haplogroup clusters, is associated with functional differences in mitochondrial function and susceptibility to various diseases, including ischemic cardiomyopathy. We hypothesized that mtDNA haplogroups, in particular H, J and K, might modify disease susceptibility to HCM. Mitochondrial DNA, isolated from...... suggests that mtDNA haplotypes may be of significance in determining whether a physiological hypertrophy develops into myopathy. mtDNA haplotypes may have the potential of becoming significant biomarkers in cardiomyopathy....

  4. Assessment of Regional Myocardial Function in Patients with Hypertrophic Cardiomyopathy by Tissue Strain Imaging

    Institute of Scientific and Technical Information of China (English)

    XIONG Runqing; XIE Mingxing; WANG Xinfang; L(U) Qing

    2006-01-01

    The value of tissue strain imaging (SI) in regional myocardial systolic anddiastolic function assessment was studied. In 18 patients with nonobstructive hypertrophic cardiomyopathy (HCM) and 20 age-matched healthy subjects, regional myocardial longitudinal peak systolic strain in eject time (represented by εet) was measured at basal, mid and apical segments of septal, lateral and posterior walls of the left ventricle (LV) and compared between groups. εet had no significant difference between segments in control group (P>0.05), which displayed a decreasing trend from basal segments to apical ones. εet in the HCM group was significantly decreased (P<0. 05) as compared with that in the healthy group. In the HCM group, εet in the midseptum was significantly less than at the basal and apical septum, and was also less than at the rest LV walls in the same group (P<0.01). The systolic reversed εet was noticed in 35 % of the hypertrophic segments in HCM group. Significantly negative correlation existed between the absolute value of εet and wall thickness in the midseptum (r=- 0.83). The post-systolic strain(PSS) segment number the and amplitudes in healthy group were significantly less than those in HCM group (P<0.05). Both regional myocardial systolic and diastolic functions were impaired in hypertrophic or non-hypertrophic segments in patients with the HCM, especially in hypertrophic segments. Strain imaging technique is a sensitive and accura tool in myocardial dysfunction assessment.

  5. What Causes Cardiomyopathy?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Cardiomyopathy? Cardiomyopathy can be acquired or inherited. “Acquired” means ... case when the disease occurs in children. Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy usually is inherited. It’s caused by ...

  6. The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Heliö, Tiina; Jääskeläinen, Pertti; Laine, Mika; Hilvo, Mika; Nieminen, Markku S.; Laakso, Markku; Hyötyläinen, Tuulia; Orešič, Matej; Kuusisto, Johanna

    2015-01-01

    Aims Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of mutation carriers with the HCM-causing MYBPC3-Q1061X mutation with and without left ventricular hypertrophy (LVH) and non-affected relatives, and the association of the metabolome to the echocardiographic parameters. Methods and Results 34 hypertrophic subjects carrying the MYBPC3-Q1061X mutation, 19 non-hypertrophic mutation carriers and 20 relatives with neither mutation nor hypertrophy were examined using comprehensive echocardiography. Plasma was analyzed for molecular lipids and polar metabolites using two metabolomics platforms. Concentrations of branched chain amino acids, triglycerides and ether phospholipids were increased in mutation carriers with hypertrophy as compared to controls and non-hypertrophic mutation carriers, and correlated with echocardiographic LVH and signs of diastolic and systolic dysfunction in subjects with the MYBPC3-Q1061X mutation. Conclusions Our study implicates the potential role of branched chain amino acids, triglycerides and ether phospholipids in HCM, as well as suggests an association of these metabolites with remodeling and dysfunction of the left ventricle. PMID:26267065

  7. High sensitivity of late gadolinium enhancement for predicting microscopic myocardial scarring in biopsied specimens in hypertrophic cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Tetsuo Konno

    Full Text Available BACKGROUND: Myocardial scarring can be assessed by cardiac magnetic resonance imaging with late gadolinium enhancement and by endomyocardial biopsy. However, accuracy of late gadolinium enhancement for predicting microscopic myocardial scarring in biopsied specimens remains unknown in hypertrophic cardiomyopathy. We investigated whether late gadolinium enhancement in the whole heart reflects microscopic myocardial scarring in the small biopsied specimens in hypertrophic cardiomyopathy. METHODS AND RESULTS: Twenty-one consecutive patients with hypertrophic cardiomyopathy who were examined both by cardiac magnetic resonance imaging and by endomyocardial biopsy were retrospectively studied. The right interventricular septum was the target site for endomyocardial biopsy in all patients. Late gadolinium enhancement in the ventricular septum had an excellent sensitivity (100% with a low specificity (40% for predicting microscopic myocardial scarring in biopsied specimens. The sensitivity of late gadolinium enhancement in the whole heart remained 100% with a specificity of 27% for predicting microscopic myocardial scarring in biopsied specimens. Quantitative assessments of fibrosis revealed that the extent of late gadolinium enhancement in the whole heart was the only independent variable related to the microscopic collagen fraction in biopsied specimens (β  =  0.59, 95% confident interval: 0.15 - 1.0, p  =  0.012. CONCLUSIONS: Although there was a compromise in the specificity, the sensitivity of late gadolinium enhancement was excellent for prediction of microscopic myocardial scarring in hypertrophic cardiomyopathy. Moreover, the severity of late gadolinium enhancement was independently associated with the quantitative collagen fraction in biopsied specimens in hypertrophic cardiomyopathy. These findings indicate that late gadolinium enhancement can reflect both the presence and the extent of microscopic myocardial scarring in the small

  8. 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....... In the remaining 59 probands, 3 (5%) had GLA mutations as follows. The first proband, a female with asymmetric septal hypertrophy (ASH), a significant left ventricular outflow tract gradient, and chronic obstructive pulmonary disease, was heterozygous for a novel missense mutation (p.N139S). The second proband...... therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women....

  9. Successful treatment with biventricular pacing in a patient with hypertrophic obstructive cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    HE Ji-qiang; JIANG Teng-yong; WANG Yun-long; WANG Yan; L(U) Shu-zheng

    2011-01-01

    We report the effects of biventricular pacing in a patient with hypertrophic obstructive cardiomyopathy (HOCM) refractory to medical therapy. A 58-year-old man with HOCM had suffered from dyspnea,chest pain and palpitation for 5 years. Cardiac catheterization showed a left ventricular outflow tract (LVOT) gradient of 80 mmHg. He refused septal myomectomy and the septal ablation was not available. Based on intraoperative pressure measurements,he was implanted with biventricular pacing and LVOT gradient decreased to 10 mmHg. During the follow-up period of 6 months, the patient's symptoms were markedly improved. Biventricular pacing may be an alternative therapy for patients with HOCM.

  10. The role of intraoperative transesophageal echocardiographic monitoring in a patient with hypertrophic cardiomyopathy undergoing laparoscopic surgery.

    Science.gov (United States)

    Gregory, Stephen H; Fierro, Michael A

    2016-11-01

    Hypertrophic cardiomyopathy (HCM) presents a significant perioperative challenge. Anesthetic drugs, patient positioning, and surgical technique can provoke worsening left ventricular outflow tract obstruction and hemodynamic deterioration. In this case report, we present the perioperative management of a 70-year-old male with a history of HCM who underwent a robotic laparoscopic prostatectomy. Discussion focuses on the utilization of echocardiographic guidance in the care of patients with HCM undergoing noncardiac surgery, as well as the pathophysiology of laparoscopic insufflation and its effects on left ventricular outflow tract obstruction in HCM. PMID:27687358

  11. Myocardial condition after transcoronary ablation predicts the curative effect in patients with hypertrophic obstructive cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    @@ Transcoronary ablation of septal hypertrophy (TASH) has been recommended as an option for patients with drug-refractory hypertrophic obstructive cardiomyopathy (HOCM). However, its outcome is varied, and some factors are attributed to the diversity results.1 Up to now, there is no study on the influence of the ablated myocardium's condition on the outcome. We retrospectively analyzed the myocardial perfusion imaging (MPI) obtained before and early after TASH in our patients to explore the relationship between the ablated myocardium's condition and the clinical outcome.

  12. Resolution of Neonatal Hypertrophic Cardiomyopathy Presumed Secondary to Acquired Maternal Ribonucleoprotein and Smith Autoantibodies

    Directory of Open Access Journals (Sweden)

    A. Shah

    2013-10-01

    Full Text Available Severe asymmetrical hypertrophic cardiomyopathy without heart block accompanied by neuromuscular hypotonia and feeding difficulties was evident shortly after birth in the second child of a mother with systemic lupus erythematosus who had no indication of gestational diabetes. High-level anti-ribonucleoprotein (RNP and Smoth (Sm antibodies arising from transplacental transfer of maternal antibodies were detected in the child's serum. The cardiac abnormalities improved with a commensurate decline in antibody titers. Previously reported cases of neonatal cardiomyopathy with endocardial fibroelastosis have been ascribed to the transplacental transfer of maternal Sjogrens Syndrome (SS A (Ro and Sjogrens Syndrome (SS B (La antibodies and have been more severe and persistent compared with our patient. We advocate close monitoring of all babies of mothers with systemic autoimmunity for changes in heart rate during pregnancy and signs of heart failure and neuromuscular weakness after delivery.

  13. Influence of verapamil therapy on left ventricular performance at rest and during exercise in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hanrath, P; Schlüter, M; Sonntag, F; Diemert, J; Bleifeld, W

    1983-09-01

    To determine the hemodynamic effect of verapamil at rest and during exercise, 18 patients with hypertrophic cardiomyopathy were studied before and after 7 weeks of treatment with oral verapamil (maximal dose, 720 mg/day). At rest and at peak exercise, verapamil produced a significant increase in left ventricular (LV) systolic performance in terms of stroke volume index (rest, from 43 +/- 11 to 53 +/- 11 ml/m2, p less than 0.001; exercise, from 46 +/- 11 to 51 +/- 10 ml/m2, p less than 0.01), whereas heart rate decreased (rest, from 81 +/- 14 to 70 +/- 11 min-1, p less than 0.001; exercise, from 150 +/- 21 to 141 +/- 18 min-1, p less than 0.01). Cardiac index at rest and during exercise remained unchanged. Systolic vascular resistance did not change at rest, but decreased significantly during exercise (974 +/- 243 to 874 +/- 174 dynes s cm-5; p less than 0.05). After verapamil administration, pulmonary artery pressures did not change at rest, but decreased significantly during exercise. This was probably due to a shift in the LV pressure-volume relation. The improvement in LV hemodynamics was associated with a significant increase in exercise capacity. The findings of this study indicate that in patients with hypertrophic cardiomyopathy, hemodynamic improvement at rest and during exercise can be achieved by chronic administration of verapamil.

  14. Sex dimorphisms of crossbridge cycling kinetics in transgenic hypertrophic cardiomyopathy mice.

    Science.gov (United States)

    Birch, Camille L; Behunin, Samantha M; Lopez-Pier, Marissa A; Danilo, Christiane; Lipovka, Yulia; Saripalli, Chandra; Granzier, Henk; Konhilas, John P

    2016-07-01

    Familial hypertrophic cardiomyopathy (HCM) is a disease of the sarcomere and may lead to hypertrophic, dilated, restrictive, and/or arrhythmogenic cardiomyopathy, congestive heart failure, or sudden cardiac death. We hypothesized that hearts from transgenic HCM mice harboring a mutant myosin heavy chain increase the energetic cost of contraction in a sex-specific manner. To do this, we assessed Ca(2+) sensitivity of tension and crossbridge kinetics in demembranated cardiac trabeculas from male and female wild-type (WT) and HCM hearts at an early time point (2 mo of age). We found a significant effect of sex on Ca(2+) sensitivity such that male, but not female, HCM mice displayed a decrease in Ca(2+) sensitivity compared with WT counterparts. The HCM transgene and sex significantly impacted the rate of force redevelopment by a rapid release-restretch protocol and tension cost by the ATPase-tension relationship. In each of these measures, HCM male trabeculas displayed a gain-of-function when compared with WT counterparts. In addition, cardiac remodeling measured by echocardiography, histology, morphometry, and posttranslational modifications demonstrated sex- and HCM-specific effects. In conclusion, female and male HCM mice display sex dimorphic crossbridge kinetics accompanied by sex- and HCM-dependent cardiac remodeling at the morphometric, histological, and cellular level.

  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. Sex dimorphisms of crossbridge cycling kinetics in transgenic hypertrophic cardiomyopathy mice.

    Science.gov (United States)

    Birch, Camille L; Behunin, Samantha M; Lopez-Pier, Marissa A; Danilo, Christiane; Lipovka, Yulia; Saripalli, Chandra; Granzier, Henk; Konhilas, John P

    2016-07-01

    Familial hypertrophic cardiomyopathy (HCM) is a disease of the sarcomere and may lead to hypertrophic, dilated, restrictive, and/or arrhythmogenic cardiomyopathy, congestive heart failure, or sudden cardiac death. We hypothesized that hearts from transgenic HCM mice harboring a mutant myosin heavy chain increase the energetic cost of contraction in a sex-specific manner. To do this, we assessed Ca(2+) sensitivity of tension and crossbridge kinetics in demembranated cardiac trabeculas from male and female wild-type (WT) and HCM hearts at an early time point (2 mo of age). We found a significant effect of sex on Ca(2+) sensitivity such that male, but not female, HCM mice displayed a decrease in Ca(2+) sensitivity compared with WT counterparts. The HCM transgene and sex significantly impacted the rate of force redevelopment by a rapid release-restretch protocol and tension cost by the ATPase-tension relationship. In each of these measures, HCM male trabeculas displayed a gain-of-function when compared with WT counterparts. In addition, cardiac remodeling measured by echocardiography, histology, morphometry, and posttranslational modifications demonstrated sex- and HCM-specific effects. In conclusion, female and male HCM mice display sex dimorphic crossbridge kinetics accompanied by sex- and HCM-dependent cardiac remodeling at the morphometric, histological, and cellular level. PMID:27199124

  17. Supraventricular tachycardia in a patient with Lown-Ganong-Levine syndrome associated with apical hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hayano, M; Imamura, Y; Tsuruta, M; Inoue, J; Nakashima, H; Fukuyama, K; Eguchi, Y; Tsuji, S; Matsuo, S; Yano, K

    1988-03-01

    Electrophysiologic study of a 55-year-old patient with Lown-Ganong-Levine syndrome associated with apical hypertrophic cardiomyopathy is reported. The patient had a history of recurrent attacks of tachyarrhythmia and his electrocardiogram showed a short P-R interval (0.10 sec) with narrow QRS complex and left ventricular hypertrophy with giant negative T waves. His cineangiogram showed severe apical hypertrophy. An electrophysiologic study was performed. The results of programmed atrial pacing show the existence of the dual A-V nodal pathways. The A-H interval at rapid atrial pacing increased maximally by 103 msec. Atrial stimulation could depolarize parts of the atrium without altering the supraventricular tachycardia. These findings suggested that preferential rapidly conducting A-V nodal and intranodal reentry are the responsible mechanisms in this reciprocating tachycardia. We conclude that the short P-R interval was due to intranodal reentry through the dual A-V nodal pathways. To our knowledge, a case of Lown-Ganong-Levine syndrome with apical hypertrophic cardiomyopathy has not been previously described in the literature.

  18. 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.

  19. AT1 receptor A/C1166 polymorphism contributes to cardiac hypertrophy in subjects with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    A.P. Osterop; M.J.M. Kofflard (Marcel); L.A. Sandkuijl (Lodewijk); M.A.D.H. Schalekamp (Maarten); A.H.J. Danser (Jan); R. Krams (Rob); F.J. ten Cate (Folkert)

    1998-01-01

    textabstractThe development of left ventricular hypertrophy (LVH) in subjects with hypertrophic cardiomyopathy (HCM) is variable, suggesting a role for modifying factors such as angiotensin II. We investigated whether the angiotensin II type 1 receptor (AT1-R) A/C1166 p

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

    Institute of Scientific and Technical Information of China (English)

    陆敏杰

    2013-01-01

    Objective To investigate the diagnostic values of T1mapping imaging for evaluating myocardial fibrosis in patients with hypertrophic cardiomyopathy (HCM) .Methods Forty-eight subjects with HCM and 18 healthy volunteers underwent conventional late gadolinium enhancement (LGE) MR imaging and T1mapping imaging.

  1. Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history

    NARCIS (Netherlands)

    E.A. Nannenberg; M. Michels; I. Christiaans; D. Majoor-Krakauer; Y.M. Hoedemaekers; J.P. van Tintelen; M.P. Lombardi; F.J. ten Cate; A.F.L. Schinkel; J.G.P. Tijssen; I.M. van Langen; A.A.M. Wilde; E.J.G. Sijbrands

    2011-01-01

    The goal of this study was to assess the mortality of hypertrophic cardiomyopathy (HCM), partly in times when the disease was not elucidated and patients were untreated. HCM is feared for the risk of sudden cardiac death (SCD). Insight in the natural history of the disorder is needed to design prope

  2. Mortality Risk of Untreated Myosin-Binding Protein C-Related Hypertrophic Cardiomyopathy Insight Into the Natural History

    NARCIS (Netherlands)

    Nannenberg, Eline A.; Michels, Michelle; Christiaans, Imke; Majoor-Krakauer, Danielle; Hoedemaekers, Yvonne M.; van Tintelen, J. Peter; Lombardi, M. Paola; ten Cate, Folkert J.; Schinkel, Arend F. L.; Tijssen, Jan G. P.; van Langen, Irene M.; Wilde, Arthur A. M.; Sijbrands, Eric J. G.

    2011-01-01

    Objectives The goal of this study was to assess the mortality of hypertrophic cardiomyopathy (HCM), partly in times when the disease was not elucidated and patients were untreated. Background HCM is feared for the risk of sudden cardiac death (SCD). Insight in the natural history of the disorder is

  3. 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 asses

  4. Quality of Life and Psychological Distress in Hypertrophic Cardiomyopathy Mutation Carriers: A Cross-Sectional Cohort Study

    NARCIS (Netherlands)

    I. Christiaans; I.M. van Langen; E. Birnie; G.J. Bonsel; A.A.M. Wilde; E.M.A. Smets

    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 mutation carriers, with or without manifest HCM. We aimed to ass

  5. Alcohol septal ablation in obstructive acromegalic hypertrophic cardiomyopathy - a first case report.

    Science.gov (United States)

    Viveiros Monteiro, André; Fiarresga, António; Cacela, Duarte; de Sousa, Lídia; Ramos, Ruben; Galrinho, Ana; Branco, Luísa; Cruz Ferreira, Rui

    2016-09-01

    Acromegaly is a rare disease, mostly caused by a growth hormone (GH)-secreting benign pituitary tumor, with an increased production of GH and insulin-like growth factor 1 (IGF-1). Cardiovascular complications are common and are associated with cardiomyocyte apoptosis and concentric cardiac hypertrophy. Suppression of GH and IGF-1 appears to improve cardiac function only in the short term, with little or no decrease in left ventricular mass or improvement in cardiac function after prolonged treatment. Alcohol septal ablation (ASA) has emerged as a minimally invasive alternative to septal myectomy, with significant improvement in symptoms, gradients and left ventricular remodeling. In this report, we describe the case of a 73-year-old woman with acromegaly due to a pituitary adenoma diagnosed and treated surgically at the age of 38 but with recurrence and reoperation at the age of 50. She was referred to our cardiology department due to a three-month history of progressively worsening exercise-induced dyspnea and orthopnea under optimal medical therapy. Echocardiography and magnetic resonance imaging revealed severe basal hypertrophy of the interventricular septum (19 mm), dynamic left ventricular outflow tract obstruction with a gradient of 70 mmHg at rest and 120 mmHg with Valsalva maneuver, and systolic anterior movement (SAM). Genetic testing excluded the most frequent forms of familial hypertrophic cardiomyopathy. ASA was performed with injection of 2 cc of alcohol in the first septal branch of the left coronary artery, without complications. At one-year reassessment, significant clinical and echocardiographic improvement was noted, with disappearance of SAM. To our knowledge, there have been no previously reported cases of ASA in hypertrophic cardiomyopathy due to acromegaly. We report a case of successful ASA in acromegalic cardiomyopathy. PMID:27503591

  6. Alcohol septal ablation in obstructive acromegalic hypertrophic cardiomyopathy - a first case report.

    Science.gov (United States)

    Viveiros Monteiro, André; Fiarresga, António; Cacela, Duarte; de Sousa, Lídia; Ramos, Ruben; Galrinho, Ana; Branco, Luísa; Cruz Ferreira, Rui

    2016-09-01

    Acromegaly is a rare disease, mostly caused by a growth hormone (GH)-secreting benign pituitary tumor, with an increased production of GH and insulin-like growth factor 1 (IGF-1). Cardiovascular complications are common and are associated with cardiomyocyte apoptosis and concentric cardiac hypertrophy. Suppression of GH and IGF-1 appears to improve cardiac function only in the short term, with little or no decrease in left ventricular mass or improvement in cardiac function after prolonged treatment. Alcohol septal ablation (ASA) has emerged as a minimally invasive alternative to septal myectomy, with significant improvement in symptoms, gradients and left ventricular remodeling. In this report, we describe the case of a 73-year-old woman with acromegaly due to a pituitary adenoma diagnosed and treated surgically at the age of 38 but with recurrence and reoperation at the age of 50. She was referred to our cardiology department due to a three-month history of progressively worsening exercise-induced dyspnea and orthopnea under optimal medical therapy. Echocardiography and magnetic resonance imaging revealed severe basal hypertrophy of the interventricular septum (19 mm), dynamic left ventricular outflow tract obstruction with a gradient of 70 mmHg at rest and 120 mmHg with Valsalva maneuver, and systolic anterior movement (SAM). Genetic testing excluded the most frequent forms of familial hypertrophic cardiomyopathy. ASA was performed with injection of 2 cc of alcohol in the first septal branch of the left coronary artery, without complications. At one-year reassessment, significant clinical and echocardiographic improvement was noted, with disappearance of SAM. To our knowledge, there have been no previously reported cases of ASA in hypertrophic cardiomyopathy due to acromegaly. We report a case of successful ASA in acromegalic cardiomyopathy.

  7. 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

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

    Directory of Open Access Journals (Sweden)

    Christian M Hagen

    Full Text Available 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 haplogroup clusters, is associated with functional differences in mitochondrial function and susceptibility to various diseases, including ischemic cardiomyopathy. We hypothesized that mtDNA haplogroups, in particular H, J and K, might modify disease susceptibility to HCM. Mitochondrial DNA, isolated from blood, was sequenced and haplogroups identified in 91 probands with HCM. The association with HCM was ascertained using two Danish control populations. Haplogroup H was more prevalent in HCM patients, 60% versus 46% (p = 0.006 and 41% (p = 0.003, in the two control populations. Haplogroup J was less prevalent, 3% vs. 12.4% (p = 0.017 and 9.1%, (p = 0.06. Likewise, the UK haplogroup cluster was less prevalent in HCM, 11% vs. 22.1% (p = 0.02 and 22.8% (p = 0.04. These results indicate that haplogroup H constitutes a susceptibility factor and that haplogroup J and haplogroup cluster UK are protective 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 suggests that mtDNA haplotypes may be of significance in determining whether a physiological hypertrophy develops into myopathy. mtDNA haplotypes may have the potential of becoming significant biomarkers in cardiomyopathy.

  9. Mitochondrial dysfunction and oxidative stress in Naturally-Occurring Feline Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun

    Background: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease, characterized by unexplained hypertrophy of the left ventricle. HCM features similar clinical and pathological characteristics in human beings and cats and is a common cause of sudden death and heart failure....... Mitochondrial dysfunction and oxidative stress are well known to play a role in the development of various cardiovascular diseases. However, their roles in HCM remain unexplored. Objectives Methods: Cardiac muscle was obtained from eight cats diagnosed with naturally-occuring HCM (5 males; 2-10 years old, 6.......3 ± 2.4 (mean ± SD)) and from nine age-matched control cats (CON) (3 males; 2-11 years, 4.9 ± 3.1). High-resolution respirometry was used to measure mitochondrial function in permeabilized, cardiac muscle fibres. Oxidative stress was assessed by measurements of mitochondrial H2O2 generation...

  10. Cardiac Magnetic Resonance and Computed Tomography in Hypertrophic Cardiomyopathy: an Update.

    Science.gov (United States)

    Oliveira, Diogo Costa Leandro de; Assunção, Fernanda Boldrini; Santos, Alair Agusto Sarmet Moreira Damas Dos; Nacif, Marcelo Souto

    2016-08-01

    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. PMID:27305111

  11. Cardiac Magnetic Resonance and Computed Tomography in Hypertrophic Cardiomyopathy: an Update

    Science.gov (United States)

    de Oliveira, Diogo Costa Leandro; Assunção, Fernanda Boldrini; dos Santos, Alair Agusto Sarmet Moreira Damas; Nacif, Marcelo Souto

    2016-01-01

    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. PMID:27305111

  12. Evaluation of cardiac structures and function in hypertrophic cardiomyopathy with magnetic resonance imaging

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Objective:To assess the capability of magnetic resonance imaging(MRI)in evaluating the cardiac structures and function in the hypertrophic cardiomyopathy(HCM).Methods:Fourteen healthy volunteers and eighteen cases with HCM verified by history,clinical presentation,electrocardiogram and echocardiography(ECG)were performed with MRI.The myocardial thickness of interventricular septum at the basal segment and that of posterolateral free wall of the left ventricle(LV)were measured.Some indexes for evaluating cardiac function were measured using ARGUS auto-quantitative program.Resuits:The myocardial thickness of septum at the basal segment had significant difference between the HCM patients and the healthy volunteers.There was no significant difference between MRI and ECG in examining end-diastolic volume,ejection fraction of the LV.Conclusion:MRI can fully provide more information on the abnormalities of cardiac anatomy and function;thus,it is of great value in clinical application.

  13. Hypertrophic cardiomyopathy: Can the noninvasive diagnostic testing identify high risk patients?

    Institute of Scientific and Technical Information of China (English)

    Li; Zhang; Obinna; Mmagu; Liwen; Liu; Dayuan; Li; Yuxin; Fan; Adrian; Baranchuk; Peter; R; Kowey

    2014-01-01

    Hypertrophic cardiomyopathy(HCM) is the most common cause of sudden cardiac death(SCD) in the young, particularly among athletes. Identifying high risk individuals is very important for SCD prevention. The purpose of this review is to stress that noninvasive diagnostic testing is important for risk assessment. Extreme left ventricular hypertrophy and documented ventricular tachycardia and fibrillation increase the risk of SCD. Fragmented QRS and T wave inversion in multiple leads are more common in high risk patients. Cardiac magnetic resonance imaging provides complete visualization of the left ventricular chamber, allowing precise localization of the distribution of hypertrophy and measurement of wall thickness and cardiac mass. Moreover, with late gadolinium enhancement, patchy myocardial fibrosis within the area of hypertrophy can be detected, which is also helpful in risk stratification. Genetic testing is encouraged in all cases, especially in those with a family history of HCM and SCD.

  14. A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

    Science.gov (United States)

    Jonckheere, An I; Hogeveen, Marije; Nijtmans, Leo; van den Brand, Mariel; Janssen, Antoon; Diepstra, Heleen; van den Brandt, Frans; van den Heuvel, Bert; Hol, Frans; Hofste, Tom; Kapusta, Livia; Dillmann, U; Shamdeen, M; Smeitink, J; Smeitink, J; Rodenburg, Richard

    2009-01-01

    To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder.Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscle and fibroblasts were performed. Relevant parts of the mitochondrial DNA were analysed by sequencing.A homoplasmic nonsense mutation m.8529G→A (p.Trp55X) was found in the mitochondrial ATP8 gene in the patient's fibroblasts and muscle tissue. Reduced complex V activity was measured in the patient's fibroblasts and muscle tissue, and was confirmed in cybrid clones containing patient-derived mitochondrial DNAWe describe the first pathogenic mutation in the mitochondrial ATP8 gene, resulting in an improper assembly and reduced activity of the complex V holoenzyme. PMID:21686774

  15. Therapeutic Hypothermia and Out-of-Hospital Cardiac Arrest in a Child with Hypertrophic Obstructive Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Nancy Spurkeland

    2015-01-01

    Full Text Available Neurologic outcomes following pediatric cardiac arrest are consistently poor. Early initiation of cardiopulmonary resuscitation has been shown to have positive effects on both survival to hospital discharge, and improved neurological outcomes after cardiac arrest. Additionally, the use of therapeutic hypothermia may improve survival in pediatric cardiac arrest patients admitted to the intensive care unit. We report a child with congenital hypertrophic obstructive cardiomyopathy and an out-of-hospital cardiac arrest, in whom the early initiation of effective prolonged cardiopulmonary resuscitation and subsequent administration of therapeutic hypothermia contributed to a positive outcome with no gross neurologic sequelae. Continuing efforts should be made to promote and employ high-quality cardiopulmonary resuscitation, which likely contributed to the positive outcome of this case. Further research will be necessary to develop and solidify national guidelines for the implementation of therapeutic hypothermia in selected subpopulations of children with OHCA.

  16. MicroRNAs Based Therapy of Hypertrophic Cardiomyopathy: The Road Traveled So Far

    Directory of Open Access Journals (Sweden)

    Catarina Roma-Rodrigues

    2015-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is an autosomal dominant disease characterized by variable expressivity, age penetrance, and a high heterogeneity. The transcriptional profile (miRNAs, mRNAs, epigenetic modifications, and posttranslational modifications seem to be highly relevant for the onset of the disease. miRNAs, small noncoding RNAs with 22 nucleotides, have been implicated in the regulation of cardiomyocyte function, being differentially expressed in several heart diseases, including HCM. Moreover, a different miRNA expression profile in the various stages of HCM development is also observed. This review summarizes the current knowledge of the profile of miRNAs characteristic of asymptomatic to overt HCM patients, discussing alongside their potential use for diagnosis and therapy. Indeed, the stability and specificity of miRNAs make them suitable targets for use as biomarkers for diagnosis and prognosis and as therapeutical targets.

  17. [Assessment of risk of sudden cardiac death in patients with hypertrophic cardiomyopathy].

    Science.gov (United States)

    Attanasio, Philipp; Blaschke, Florian; Pieske, Burkert; Tschöpe, Carsten; Haverkamp, Wilhelm

    2016-07-01

    Hypertrophic cardiomyopathy (HCM) is a hereditary disease characterized by left ventricular hypertrophy with or without concomitant outflow tract obstruction. Identification of patients with HCM who are at high risk of sudden cardiac death (SCD) is crucial as those patients are likely to benefit from an implantable cardioverter defibrillator (ICD). Based on the HCM Risk-SCD study published in 2013, that included 3675 HCM patients with 24 313 years of follow up, a new clinical risk prediction model for sudden cardiac death was developed. This model was included in the recently released 2014 ESC guidelines. This review summarizes the changes in the prediction model and the resulting recommendations and discusses potential risks and limitations of the new score. PMID:27404936

  18. Virtual Cardiac Surgery Using CFD: Application to Septal Myectomy in Obstructive Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Vedula, Vijay; Mittal, Rajat; Abraham, Theodore

    2011-11-01

    Obstructive hypertrophic cardiomyopathy (HOCM) is characterized by ventricular wall thickening, diastolic dysfunction, and dynamic outflow tract obstruction, all of which strongly influence the vortex dynamics and pressure distribution in the left ventricle (LV). Severe cases of HCM are usually managed through septal myectomy where the surgeon resects the hypertrophic mass. Surgeons currently try to remove as much tissue as possible in order to optimize the post surgical result. However, excessive debulking increases the chance of ventricular septal defects, bundle branch block or complete heart block, and aneurysmal septal thinning. On the other hand, insufficient tissue removal also leads to unsatisfactory outcomes in terms of reduction of outflow tract pressure gradient. Knowing how much muscle to remove and where to remove it from could reduce the likelihood of complications and suboptimal outcomes. In the present study, we employ an immersed boundary solver to model the effect of septal myectomy for ventricles with HOCM and demonstrate the potential of such an approach for surgical planning. Computational resources were provided by the National Institute of Computational Science under Tergrid grant number TG-CTS100002.

  19. Myocardial Fibrosis in Hypertrophic Cardiomyopathy Demonstrated by Integrated Cardiac F-18 FDG PET/MR

    Energy Technology Data Exchange (ETDEWEB)

    Kong, Eunjung; Lee, Sanghee; Cho, Ihnho [Yeungnam Univ., Daegu (Korea, Republic of)

    2013-09-15

    Hypertrophic cardiomyopathy (HCM) is a common condition defined as a diffuse or segmental left ventricular (LV) hypertrophy with a nondilated and hyperdynamic chamber as well as cardiac arrhythmias. Cardiac MR (CMR) imaging is a key modality for evaluation of HCM. In addition to the assessment of LV wall thickness, LV function and aortic flow, CMR is capable of estimation of late gadolinium enhancement (LGE) in affected myocardium which has been shown to have a direct correlation with incidence and severity of arrhythmias in HCM. In patients with HCM, LGE on CMR is presumed to represent intramyocardial fibrosis. Meanwhile, F-18 FDG myocardial PET has been sporadically studied in HCM, mostly for evaluation of the metabolic status of a hypertrophic myocardial segment, especially after interventions or to demonstrate partial myocardial fibrosis. We presented here the case of a 25-year-old male patient referred for simultaneous F-18 FDG cardiac PET/MR for the evaluation of septal hypertrophy. The PET/MR revealed myocardial fibrosis in the septum associated with FDG-defect and LGE.

  20. 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.

  1. Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

    OpenAIRE

    Yu, B.; French, J. A.; Carrier, L.; Jeremy, R W; McTaggart, D R; Nicholson, M R; Hambly, B; Semsarian, C; Richmond, D R; Schwartz, K.; Trent, R.J.

    1998-01-01

    DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere. The majority of mutations in the FHC genes result from missense changes, although one of the most recent genes to be identified (cardiac myosin binding protein C gene, MYBPC3) has predominantly DNA mutations which produce truncated proteins. Both dominant negative and haploinsufficiency models have been proposed to explain the mol...

  2. Feline hypertrophic cardiomyopathy: an echocardiographic approach Cardiomiopatía hipertrófica felina: enfoque ecocardiográfico

    OpenAIRE

    AC Silva; RAL Muzzi; G. Oberlender; RB Nogueira; LAL Muzzi

    2013-01-01

    Feline hypertrophic cardiomyopathy is a primary myocardial disease. Feline HCM is a disease of the ventricular myocardium characterised by mild-to-severe primary concentric hypertrophy. The disease has been attributed to hereditary factors in certain breeds and causal mutations have been discovered in the Maine coon and ragdoll breeds. However, the disease is still a challenge for clinicians because of the difficulty of early diagnosis and the risk of the sudden death of the afflicted animals...

  3. Survival and Clinical Behavior of Hypertrophic Cardiomyopathy in a Latin American Cohort in Contrast to Cohorts from the Developed World

    OpenAIRE

    Espinola-Zavaleta, Nilda; Vega, Antonio; Basto, Diego Martínez; Alcantar-Fernández, Ana Cecilia; Guarner Lans, Veronica; Soto,María Elena

    2015-01-01

    Background Hypertrophic cardiomyopathy (HCM) is the most common hereditary heart disease with diverse phenotipyc, genetic expession and clinical presentations. The evolution of patients with HCM in Latin America has not been properly described being the frequency, the long-term prognosis as well as the predominant phenotypic expression still unknown. The aim of this study was to determine the survival rate of HCM patients having different phenotypes in a Mexican cohort of patients. Methods Cl...

  4. Abnormal Calcium Handling Properties Underlie Familial Hypertrophic Cardiomyopathy Pathology in Patient-Specific Induced Pluripotent Stem Cells

    OpenAIRE

    Lan, Feng; Lee, Andrew S.; Liang, Ping; Sanchez-Freire, Veronica; Nguyen, Patricia K; Wang, Li; Han, Leng; Yen, Michelle; Wang, Yongming; Sun, Ning; Abilez, Oscar J.; Hu, Shijun; Ebert, Antje D.; Navarrete, Enrique G.; Simmons, Chelsey S.

    2013-01-01

    Familial hypertrophic cardiomyopathy (HCM) is a prevalent hereditary cardiac disorder linked to arrhythmia and sudden cardiac death. While the causes of HCM have been identified as genetic mutations in the cardiac sarcomere, the pathways by which sarcomeric mutations engender myocyte hypertrophy and electrophysiological abnormalities are not understood. To elucidate the mechanisms underlying HCM development, we generated patient-specific induced pluripotent stem cell cardiomyocytes (iPSC-CMs)...

  5. Genetic variation in angiotensin-converting enzyme 2 gene is associated with extent of left ventricular hypertrophy in hypertrophic cardiomyopathy

    OpenAIRE

    van der Merwe, Lize; Cloete, Ruben; Revera, Miriam; Heradien, Marshall; Goosen, Althea; Corfield, Valerie A.; Paul A Brink; Moolman-Smook, Johanna C

    2008-01-01

    Hypertrophic cardiomyopathy, a common, inherited cardiac muscle disease, is primarily caused by mutations in sarcomeric protein-encoding genes and is characterized by overgrowth of ventricular muscle that is highly variable in extent and location. This variability has been partially attributed to locus and allelic heterogeneity of the disease-causing gene, but other factors, including unknown genetic factors, also modulate the extent of hypertrophy that develops in response to the defective s...

  6. Left ventricular regional and global diastolic function assessed using Quantitative Tissue velocity Imaging in patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    王良玉; 王新房; 谢明星; 蔡志雄; 陈纪平

    2003-01-01

    Objectives The study was performed to assess the left ventricular (LV) regional and global diastolic function、 left ventricular wall motion features in patients with Hypertrophic cardiomyopathy by Quantitative Tissue Velocity Imaging (QTVI).Methods 42 patients with hypertrophic cardiomyopathy and 36 age-matched normal subjects underwent QTVI study. Off-line LV regional muscular tissue velocity Imaging along LV aplcal long-axis view were obtained. Regional diastolic function was assessed in using peak tissue velocities of LV regional muscular tissue during early diastole (Ve)and LA contraction (Va) , Ve/Va ratio, derived from Tissue Velocity Imaging. Global diastolic function was reflected by isovolumic relaxation time(IRT) and mitral valve peak flow velocity ( E/A ) calculated with pulsed wave doppler.The end-diastolic interventricular septal thickness (IVSt) was measured by conventional 2 - dimension the segments of hypertrophic interventricular septum (IVS) reduced wlhile E/A ratio significantly reduced and IRT markedly prolonged in HCM patients than in duced in the segments of hypertrophic interventricular septum compared with other LV segments in HCM paE/A in HCM patients with abnormal E/A ratio (r = 0.Va and IVSt in non- obstruction HCM patients (B group , r = - 0.61 ) Conclusions QTVI offers a newer method in clinical practice which has a higher sensibility and accuracy in evaluating the LV regional and global diastolic function in HCM patients.

  7. Vector electrocardiographic alterations after percutaneous septal ablation in obstructive hypertrophic cardiomyopathy: possible anatomic causes

    Directory of Open Access Journals (Sweden)

    Pérez Riera Andrés Ricardo

    2002-01-01

    Full Text Available OBJECTIVE: Analyze the dromotropic disturbances (vector-electrocardiographic, and the possible anatomic causes, provoked by selective alcohol injection in the septal branch, for percutaneous treatment, of obstructive hypertrophic cardiomyopathy. METHODS: Ten patients with a mean age of 52.7 years underwent percutaneous septal ablation (PTSA from october 1998; all in functional class III/IV. Twelve-lead electrocardiogram was performed prior to and during PTSA, and later electrocardiogram and vectorcardiogram according to Frank's method. The patients were followed up for 32 months. RESULTS: On electrocardiogram (ECG prior to PTSA all patients had sinus rhythm and left atrial enlargement, 8 left ventricular hypertrophy of systolic pattern. On ECG immediately after PTSA, 8 had complete right bundle-branch block; 1 transient total atrioventricular block; 1 alternating transient bundle-branch block either right or hemiblock. On late ECG 8 had complete right bundle-branch block confirmed by vectorcardiogram, type 1 or Grishman. CONCLUSION: Septal fibrosis following alcohol injection caused a predominance of complete right bundle-branch block, different from surgery of myotomy/myectomy.

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

    International Nuclear Information System (INIS)

    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

  9. Myocardial deformation from tagged MRI in hypertrophic cardiomyopathy using an efficient registration strategy

    Science.gov (United States)

    Piella, G.; De Craene, M.; Oubel, E.; Larrabide, I.; Huguet, M.; Bijnens, B. H.; Frangi, A. F.

    2009-02-01

    This paper combines different parallelization strategies for speeding up motion and deformation computation by non-rigid registration of a sequence of images. The registration is performed in a two-level acceleration approach: (1) parallelization of each registration process using MPI and/or threads, and (2) distribution of the sequential registrations over a cluster. On a 24-node double quad-core Intel Xeon (2.66 GHz CPU, 16 GB RAM) cluster, the method is demonstrated to efficiently compute the deformation of a cardiac sequence reducing the computation time from more than 3 hours to a couple of minutes (for low downsampled images). It is shown that the distribution of the sequential registrations over the cluster together with the parallelization of each pairwise registration by multithreading lowers the computation time towards values compatible with clinical requirements (a few minutes per patient). The combination of MPI and multithreading is only advantageous for large input data sizes. Performances are assessed for the specific scenario of aligning cardiac sequences of taggedMagnetic Resonance (tMR) images, with the aim of comparing strain in healthy subjects and hypertrophic cardiomyopathy (HCM) patients. In particular, we compared the distribution of systolic strain in both populations. On average, HCM patients showed lower average values of strain with larger deviation due to the coexistence of regions with impaired deformation and regions with normal deformation.

  10. Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers.

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    Kai Hang Yiu

    Full Text Available BACKGROUND: To evaluate the presence of myocardial structural alterations and subtle myocardial dysfunction during familial screening in asymptomatic mutation carriers without hypertrophic cardiomyopathy (HCM phenotype. METHODS AND FINDINGS: Sixteen HCM families with pathogenic mutation were studied and 46 patients with phenotype expression (Mut+/Phen+ and 47 patients without phenotype expression (Mut+/Phen- were observed. Twenty-five control subjects, matched with the Mut+/Phen- group, were recruited for comparison. Echocardiography was performed to evaluate conventional parameters, myocardial structural alteration by calibrated integrated backscatter (cIBS and global and segmental longitudinal strain by speckle tracking analysis. All 3 groups had similar left ventricular dimensions and ejection fraction. Basal anteroseptal cIBS was the highest in Mut+/Phen+ patients (-14.0±4.6 dB, p-19.0 dB basal anteroseptal cIBS or >-18.0% basal anteroseptal longitudinal strain had a sensitivity of 98% and a specificity of 72% in differentiating Mut+/Phen- group from controls. CONCLUSION: The use of cIBS and segmental longitudinal strain can differentiate HCM Mut+/Phen- patients from controls with important clinical implications for the family screening and follow-up of these patients.

  11. Myosin binding protein C:Structural abnormalities in familial hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    2004-01-01

    The muscle protein myosin binding protein C (MyBPC) is a large multi-domain protein whose role in the sarcomere is complex and not yet fully understood. Mutations in MyBPC are strongly associated with the heart disease familial hypertrophic cardiomyopathy (FHC) and these experiments of nature have provided some insight into the intricate workings of this protein in the heart. While some regions of the MyBPC molecule have been assigned a function in the regulation of muscle contraction, the interaction of other regions with various parts of the myosin molecule and the sarcomeric proteins, actin and titin, remain obscure. In additic n, several intra-domain interactions between adjacent MyBPC molecules have been identified. Although the basic structure of the molecule (a series of immunoglobulin and fibronectin domains) has been elucidated, the assembly of MyBPC in the sarcomere is a topic for debate. By analysing the MyBPC sequence with respect to FHC-causing mutations it is possible to identify individual residues or regions of each domain that may be important either for binding or regulation. This review looks at the current literature, in concert with alignments and the structural models of MyBPC, in an attempt to understand how FHC mutations may lead to the disease state.

  12. Ventricular evoked response in patients with hypertrophic obstructive cardiomyopathy treated with DDD pacing

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    João Ricardo M. Sant'Anna

    1999-08-01

    Full Text Available OBJECTIVE: To assess the changes in ventricular evoked responses (VER produced by the decrease in left ventricular outflow tract gradient (LVOTG in patients with hypertrophic obstructive cardiomyopathy (HOCM treated with dual-chamber (DDD pacing. METHODS: A pulse generator Physios CTM (Biotronik, Germany was implanted in 9 patients with severe drug-refractory HOCM. After implantation, the following conditions were assessed: 1 Baseline evaluation: different AV delay (ranging from 150ms to 50 ms were sequentially programmed during 5 to 10 minutes, and the LVOTG (as determined by Doppler echocardiography and VER recorded; 2 standard evaluation, when the best AV delay (resulting in the lowest LVOTG programmed at the initial evaluation was maintained so that its effect on VER and LVOTG could be assessed during each chronic pacing evaluation. RESULTS: LVOTG decreased after DDD pacing, with a mean value of 59 ± 24 mmHg after dual chamber pacemaker, which was significantly less than the gradient before pacing (98 + 22mmHg. An AV delay >100ms produced a significantly lower decrease in VER depolarization duration (VER DD when compared to an AV delay <=100ms. Linear regression analyses showed a significant correlation between the LVOTG values and the magnitude of VER (r=0.69; p<0.05 in the 9 studied patients. CONCLUSION: The telemetry obtained intramyocardial electrogram is a sensitive means to assess left ventricular dynamics in patients with HOCM treated with DDD pacing.

  13. Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

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    Yilu Wang

    Full Text Available BACKGROUND: Hypertrophic cardiomyopathy (HCM due to mutations in genes encoding sarcomere proteins is most commonly inherited as an autosomal dominant trait. Since nearly 50% of HCM cases occur in the absence of a family history, a recessive inheritance pattern may be involved. METHODS: A pedigree was identified with suspected autosomal recessive transmission of HCM. Twenty-six HCM-related genes were comprehensively screened for mutations in the proband with targeted second generation sequencing, and the identified mutation was confirmed with bi-directional Sanger sequencing in all family members and 376 healthy controls. RESULTS: A novel missense mutation (c.1469G>T, p.Gly490Val in exon 17 of MYBPC3 was identified. Two siblings with HCM were homozygous for this mutation, whereas other family members were either heterozygous or wild type. Clinical evaluation showed that both homozygotes manifested a typical HCM presentation, but none of others, including 5 adult heterozygous mutation carriers up to 71 years of age, had any clinical evidence of HCM. CONCLUSIONS: Our data identified a MYBPC3 mutation in HCM, which appeared autosomal recessively inherited in this family. The absence of a family history of clinical HCM may be due to not only a de novo mutation, but also recessive mutations that failed to produce a clinical phenotype in heterozygous family members. Therefore, consideration of recessive mutations leading to HCM is essential for risk stratification and genetic counseling.

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

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    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.

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

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    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. Constructing "best interests": genetic testing of children in families with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Geelen, Els; Van Hoyweghen, Ine; Doevendans, Pieter A; Marcelis, Carlo L M; Horstman, Klasien

    2011-08-01

    Professional guidelines on genetic testing of children have recently shifted their focus from protecting the child's autonomous choice to professionals, together with parents, striving to work in the child's "best interest." This notion of "best interest" allows room for therapeutical as well as psychological and social considerations, and gives rise to the question how parents and professionals weigh up the child's best interest in practice. In this qualitative study, we followed six extended families involved in genetic testing for hypertrophic cardiomyopathy in the Netherlands for 3½ years. In total 57 members of these families were interviewed in depth; many of them more than once. Our empirical analysis shows that the best interest of a child is constructed via long-term processes in the broader context of family and kin. In this context, "best interests" are considered and reconsidered. We conclude that a child's best interest should not be framed as the result of an instantaneous agreement between parents and professionals. In dealing with genetic testing of children, parents as well as professionals reflect on and learn from the processes of generating new meanings of "best interest." To enable professionals to deal with the variety in family life, these learning processes should be documented closely. PMID:21739592

  17. Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis.

    Science.gov (United States)

    Seo, Jiwon; Kim, Minji; Hong, Geu-Ru; Kim, Dae-Seong; Son, Jang-Won; Cho, In Jeong; Shim, Chi Young; Chang, Hyuk-Jae; Ha, Jong-Won; Chung, Namsik

    2016-09-01

    This study aimed to develop a new set of screening criteria that is easily applicable and highly sensitive for the detection of patients at high risk of Fabry disease (FD) among hypertrophic cardiomyopathy (HCM) patients. We prospectively studied 273 consecutive unrelated patients who were referred to HCM clinic for unknown left ventricular hypertrophy. Among the 273 patients, we selected 65 high-risk patients who fulfilled at least one of our newly proposed screening criteria. All 273 patients were assayed for plasma α-galactosidase A (α-GAL A) activity. The new screening criteria were: (1) atypical HCM, (2) history or presence of documented arrhythmia, (3) short PR interval defined as <120 ms on electrocardiogram, and (4) symptoms of autonomic dysfunction. From this screening study, three unrelated patients (4.6%; 2 females and 1 male) were newly diagnosed with FD using α-GAL A activity and mutation analysis of the GLA gene. Using the screening method based on the newly proposed criteria, the prevalence of FD in our HCM population was 4.6% if at least one criterion was met and 18.8% if ⩾3 criteria were met. Therefore, our proposed criteria are easily applicable and highly sensitive for classifying patients at high risk of FD from HCM patients.

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

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    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.

  19. A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity

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    Paal Skytt Andersen

    2012-01-01

    Full Text Available Hypertrophic cardiomyopathy (HCM is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. Both recessive and dominant patterns of inheritance have been suggested. We studied a large family with a 38-year-old asymptomatic HCM-affected male referred because of a murmur. The patient had HCM with left ventricular hypertrophy (max WT 21 mm, a resting left ventricular outflow gradient of 36 mm Hg, and left atrial dilation (54 mm. Genotyping revealed heterozygosity for a novel missense mutation, p.V79I, in MYL3. The mutation was not found in 300 controls, and the patient had no mutations in 10 sarcomere genes. Cascade screening revealed a further nine heterozygote mutation carriers, three of whom had ECG and/or echocardiographic abnormalities but did not fulfil diagnostic criteria for HCM. The penetrance, if we consider this borderline HCM the phenotype of the p.V79I mutation, was 40%, but the mean age of the nonpenetrant mutation carriers is 15, while the mean age of the penetrant mutation carriers is 47. The mutation affects a conserved valine replacing it with a larger isoleucine residue in the region of contact between the light chain and the myosin lever arm. In conclusion, MYL3 mutations can present with low expressivity and late onset.

  20. Clinical meaning of isolated increase of QRS voltages in hypertrophic cardiomyopathy versus athlete's heart.

    Science.gov (United States)

    Calore, Chiara; Zorzi, Alessandro; Corrado, Domenico

    2015-01-01

    Recent consensus documents have provided modern criteria for interpretation of the athlete's ECG, which are based on a better definition of physiological versus abnormal ECG changes. The aim of these modern criteria is to lower the traditionally high number of false positives and to reduce unnecessary and expensive investigations, maintaining the sensitivity for identification of cardiac diseases at risk of sudden cardiac death during sports such as hypertrophic cardiomyopathy (HCM). This article reviews the published studies regarding the ECG changes associated with HCM ("pathologic hypertrophy") and athlete's heart ("physiologic hypertrophy"), with particular reference to the prevalence and clinical significance of the ECG pattern of isolated increase of QRS voltages. Taken together the results of the available studies show that ECG provides good accuracy for differentiating HCM from athlete's heart and allows to preserve the ECG power for detection of athletes with HCM. Patients with either completely normal ECGs or showing isolated QRS voltage criteria for LV hypertrophy have a less severe HCM phenotype, which is associated with a lower arrhythmic risk. These scientific data support the current recommendation that further cardiovascular tests including echocardiography are not systematically indicated in trained athletes showing an isolated increase of QRS voltages. PMID:25595718

  1. Diagnostic performance of computed tomography for detection of concomitant coronary disease in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Lei; Ma, Xiaohai; Zhang, Chen; Wang, Zhanhong; Fan, Zhanming [Capital Medical University, Department of Radiology, Beijing Anzhen Hospital, Beijing (China); Ge, Hailong [Capital Medical University, Department of Cardiology, Beijing Anzhen Hospital, Beijing (China); Teraoka, Kunihiko [Tokyo Medical University, Department of Cardiology, Tokyo (Japan)

    2014-10-31

    To evaluate the diagnostic performance of computed tomography (CT) in patients with hypertrophic cardiomyopathy (HCM) and suspected coexistent coronary artery diseases (CADs). Sixty patients were enrolled in this study. Cardiac CT examination included CT coronary angiography (CTCA) and delayed enhancement CT. CT performance in evaluation of the coronary artery was assessed and compared with that of catheter-based coronary angiography (CA). The left ventricle (LV) wall thickness, functional indices and myocardial delayed enhancement (MDE) were measured via cardiac magnetic resonance (CMR) and CT images. Compared with catheter-based CA, CTCA produced a 100 % (24/24) sensitivity, a 94.4 % (34/36) specificity, a 92.3 % (24/26) positive predictive value and a 100 % (34/34) negative predictive value. CT-measured LV wall thickness and functional indices were correlated with those measured via CMR (P < 0.01), though the CT-measured values were smaller than the CMR-measured values. Bland-Altman analysis showed the volume of the focal MDE determined via CT was slightly smaller than that determined using CMR (mean difference: 0.3 cm{sup 3}). For patients with HCM and suspected coexistent CAD, this comprehensive cardiac CT protocol can be helpful in ruling out coronary stenosis and can provide information regarding morphology, function and tissue characterization of the LV myocardium. (orig.)

  2. Cardiac sarcoidosis mimicking hypertrophic cardiomyopathy: clinical utility of radionuclide imaging for differential diagnosis.

    Science.gov (United States)

    Yazaki, Y; Isobe, M; Hayasaka, M; Tanaka, M; Fujii, T; Sekiguchi, M

    1998-06-01

    A 62-year-old woman with skin sarcoidosis was admitted to our hospital to ascertain whether she had cardiac involvement. Although she displayed no cardiac signs or symptoms, the electrocardiogram showed first-degree atrioventricular block, right bundle branch block with left anterior fascicular block, and giant negative T waves in the V3 lead. Echocardiography revealed marked hypertrophy localized in the basal portion of the interventricular septum (IVS) without systolic dysfunction, mimicking hypertrophic cardiomyopathy (HCM). Exercise thallium-201 myocardial imaging revealed redistribution in the anteroseptal region. Both gallium-67 (67Ga) and technetium-99m pyrophosphate (99mTc-PYP) scintigraphy revealed abnormal uptake in the myocardium. These findings disappeared after 2 months of steroid treatment. Reports of cardiac sarcoidosis mimicking HCM are rare. However, hypertrophy in the basal portion of the IVS is an important sign of early cardiac involvement in sarcoidosis. 67Ga and 99mTc-PYP scintigraphy were useful and necessary to differentiate this type of cardiac sarcoidosis from HCM.

  3. Comparison of surgical septal myectomy to medical therapy alone in patients with hypertrophic cardiomyopathy and syncope.

    Science.gov (United States)

    Orme, Nicholas M; Sorajja, Paul; Dearani, Joseph A; Schaff, Hartzell V; Gersh, Bernard J; Ommen, Steve R

    2013-02-01

    The presence of syncope despite medical therapy in patients with hypertrophic cardiomyopathy (HC) is considered an indication for surgical myectomy; however, no study has examined the long-term effects on recurrent syncope and survival after surgery in these patients. We examined 239 patients with HC and a history of syncope who had undergone surgical myectomy (mean age 48 ± 17 years; 56% men). The patients were age- and gender-matched to patients with HC and syncope who were treated medically without myectomy (mean age 51 ± 16 years; 59% men). The median follow-up period was 4.7 years (0.8, 11.3). The recurrence rate of syncope was 11% in the myectomy patients and 40% in the medical group (p <0.0001). Multiple episodes of syncope, left ventricular outflow tract obstruction, and recent syncope were identified as baseline predictors of recurrent syncope. Survival free of all-cause mortality was greater for patients who had undergone surgical myectomy than for the medically treated patients (10-year estimate 82 ± 4% vs 69 ± 4%; p = 0.01). In conclusion, surgical myectomy in patients with HC and a history of syncope was associated with a reduction in recurrent syncope and increased survival.

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

    Science.gov (United States)

    Pai, Rohini V Bhat; Hegde, Harihar V; Santhosh, McB; Roopa, S; Deshpande, Shrinivas S; Rao, P Raghavendra

    2013-01-01

    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.

  5. 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.

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

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    Lu, Minjie [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 (China); Zhao, Shihua, E-mail: coolkan@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 (China); Yin, Gang; Jiang, Shiliang; Zhao, Tao; Chen, Xiuyu [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 (China); Tian, Liangxin [Department of Cardiac Surgery, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Zhang, Yan; Wei, Yunqing; Liu, Qiong [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 (China); He, Zuoxiang [Department of Nuclear Medicine, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing (China); Xue, Hui [Siemens Healthcare, 737 N. Michigan Avenue, Suite 1600 Chicago, IL 60611 (United States); An, Jing [Siemens Shenzhen Magnetic Resonance Ltd. Application Dept. Siemens MRI center, Gaoxin C. Ave.,2nd, Hi-Tech Industrial Park, Shenzhen (China); Shah, Saurabh [Siemens Healthcare, 737 N. Michigan Avenue, Suite 1600 Chicago, IL 60611 (United States)

    2013-05-15

    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.

  7. Midventricular Hypertrophic Cardiomyopathy with Apical Aneurysm: Potential for Underdiagnosis and Value of Multimodality Imaging

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    Archana Sivanandam

    2016-01-01

    Full Text Available We illustrate a case of midventricle obstructive HCM and apical aneurysm diagnosed with appropriate use of multimodality imaging. A 75-year-old African American woman presented with a 3-day history of chest pain and dyspnea with elevated troponins. Her electrocardiogram showed sinus rhythm, left atrial enlargement, left ventricular hypertrophy, prolonged QT, and occasional ectopy. After medical therapy optimization, she underwent coronary angiography for an initial diagnosis of non-ST segment elevation myocardial infarction. Her coronaries were unremarkable for significant disease but her left ventriculogram showed hyperdynamic contractility of the midportion of the ventricle along with a large dyskinetic aneurysmal apical sac. A subsequent transthoracic echocardiogram provided poor visualization of the apical region of the ventricle but contrast enhancement identified an aneurysmal pouch distal to the midventricular obstruction. To further clarify the diagnosis, cardiac magnetic resonance imaging with contrast was performed confirming the diagnosis of midventricular hypertrophic cardiomyopathy with apical aneurysm and fibrosis consistent with apical scar on delayed enhancement. The patient was medically treated and subsequently underwent elective implantable defibrillator placement in the ensuing months for recurrent nonsustained ventricular tachycardia and was initiated on prophylactic oral anticoagulation with warfarin for thromboembolic risk reduction.

  8. 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

  9. Morphologic evidence for "small vessel disease" in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Maron, B J; Wolfson, J K; Epstein, S E; Roberts, W C

    1987-01-01

    Many patients with hypertrophic cardiomyopathy (HCM) have signs and symptoms or metabolic and hemodynamic evidence of myocardial ischemia and dysfunction in the absence of extramural coronary atherosclerosis. To investigate the possibility that a form of "small vessel disease" could account for these findings, a histologic analysis of left ventricular myocardium obtained at necropsy was carried out in 48 patients with hypertophic cardiomyopathy and in 68 controls with either normal hearts or acquired heart disease. In HCM, abnormal intramural coronary arteries (IMCA) were characterized by thickening of the vessel wall and an apparent decrease in luminal size (external arterial diameter less than 1500 micron; average 300 micron). The wall thickening was due to proliferation of medial and/or intimal components, particularly smooth muscle cells and collagen. Of the 48 patients with HCM,40 (83%) had abnormal IMCAs located in the ventricular septum (33 patients), anterior left ventricular free wall (20 patients) or posterior free wall (nine patients); an average of 3.0 +/- 0.7 IMCA were identified per tissue section. Altered IMCAs were also significantly more common in tissue sections having considerable myocardial fibrosis (31 out of 42, 74%) than in those with no or mild fibrosis (31 or 102, 30%; p less than 0.001). Abnormal IMCA wera also identified in 3 out of 8 infants who died of HCM before 1 year of age. In contrast, only rare altered IMCA were identified in six (9%) of the 69 control patients, and those arteries showed only mild thickening of the wall and minimal luminal narrowing (abnormal IMCA per section: 0.1 +/- 0.05: p less than 0.001). Moreover, of those patients who did show abnormal IMCA, such vessels were about twenty times more frequent in patients with HCM (0.9 +/- 0.2/cm2 myocardium) than in controls (0.04 +/- 0.02/cm2 myocardium). Hence, abnormal IMCA with markedly thickened walls and narrowed lumens are present in increased numbers in most patients

  10. Apical aneurysm and myocardial bridging in a patient with hypertrophic cardiomyopathy: association or consequence of the myocardial bridging?

    Science.gov (United States)

    Foucault, Anthony; Hilpert, Loic; Hédoire, Francois; Saloux, Eric; Gomes, Sophie; Pellissier, Arnaud; Scanu, Patrice; Champ-Rigot, Laure; Milliez, Paul

    2012-01-01

    The identification of high-risk patients with hypertrophic cardiomyopathy (HC) for primary prevention of sudden cardiac death (SCD) remains a challenging issue, since major risk factors sometimes lack specificity. We report the case of a patient with HC and association of apical aneurysm and myocardial bridging who had been initially not implanted because she had only one major risk factor. She subsequently experienced a sustained ventricular tachycardia that finally motivated the implantation. We conclude that it is never an easy decision to implant a preventive implantable cardioverter-defibrillator (ICD). Nevertheless, additional criteria for a better selection of patients who would benefit from an ICD implant are certainly useful.

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

    Directory of Open Access Journals (Sweden)

    N. S. Krylova

    2014-01-01

    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.

  12. Reproducibility of Gadolinium Enhancement Patterns and Wall Thickness in Hypertrophic Cardiomyopathy

    Science.gov (United States)

    Rodriguez-Granillo, Gaston A.; Deviggiano, Alejandro; Capunay, Carlos; Zan, Macarena C. De; Carrascosa, Patricia

    2016-01-01

    Background Reproducibility data of the extent and patterns of late gadolinium enhancement (LGE) in hypertrophic cardiomyopathy (HCM) is limited. Objective To explore the reproducibility of regional wall thickness (WT), LGE extent, and LGE patterns in patients with HCM assessed with cardiac magnetic resonance (CMR). Methods The extent of LGE was assessed by the number of segments with LGE, and by the total LV mass with LGE (% LGE); and the pattern of LGE-CMR was defined for each segment. Results A total of 42 patients (672 segments) with HCM constituted the study population. The mean WT measurements showed a mean difference between observers of -0.62 ± 1.0 mm (6.1%), with limits of agreement of 1.36 mm; -2.60 mm and intraclass correlation coefficient (ICC) of 0.95 (95% CI 0.93-0.96). Maximum WT measurements showed a mean difference between observers of -0.19 ± 0.8 mm (0.9%), with limits of agreement of 1.32 mm; -1.70 mm, and an ICC of 0.95 (95% CI 0.91-0.98). The % LGE showed a mean difference between observers of -1.17 ± 1.2 % (21%), with limits of agreement of 1.16%; -3.49%, and an ICC of 0.94 (95% CI 0.88-0.97). The mean difference between observers regarding the number of segments with LGE was -0.40 ± 0.45 segments (11%), with limits of agreement of 0.50 segments; -1.31 segments, and an ICC of 0.97 (95% CI 0.94-0.99). Conclusions The number of segments with LGE might be more reproducible than the percent of the LV mass with LGE. PMID:27305110

  13. An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.

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    Gayatri Ramachandran

    Full Text Available Hypertrophic Cardiomyopathy (HCM is an autosomal dominant disorder of the myocardium which is hypertrophied resulting in arrhythmias and heart failure leading to sudden cardiac death (SCD. Several sarcomeric proteins and modifier genes have been implicated in this disease. Troponin I, being a part of the Troponin complex (troponin I, troponin C, troponin T, is an important gene for sarcomeric function. Four mutations (1 novel were identified in Indian HCM cases, namely, Pro82Ser, Arg98Gln, Arg141Gln and Arg162Gln in Troponin I protein, which are in functionally significant domains. In order to analyse the effect of the mutations on protein stability and protein-protein interactions within the Troponin complex, an in silico study was carried out. The freely available X-ray crystal structure (PDB ID: 1JIE was used as the template to model the protein followed by loop generation and development of troponin complex for both the troponin I wild type and four mutants (NCBI ID: PRJNA194382. The structural study was carried out to determine the effect of mutation on the structural stability and protein-protein interactions between three subunits in the complex. These mutations, especially the arginine to glutamine substitutions were found to result in local perturbations within the troponin complex by creating/removing inter/intra molecular hydrogen bonds with troponin T and troponin C. This has led to a decrease in the protein stability and loss of important interactions between the three subunits. It could have a significant impact on the disease progression when coupled with allelic heterogeneity which was observed in the cases carrying these mutations. However, this can be further confirmed by functional studies on protein levels in the identified cases.

  14. Left Ventricular Regional Systolic Function in Patient with Hypertrophic Cardiomyopathy by Quantitative Tissue Velocity Imaging

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    The left ventricular regional systolic functions in patients with hypertrophic cardiomyopathy (HCM) were assessed by using quantitative tissue velocity imaging (QTVI). Left ventricular (LV) regional myocardial velocity along long- and short-axis in 31 HCM patients and 20 healthy subjects were analyzed by QTVI, and the regional myocardial systolic peak velocities (MVS) were measured. Mean MVS at each level including mitral annular, basal, middle and apical segments were calculated. The ratio of MVS along long-axis to that along short-axis (Ri) at basal and middle segments of the LV posterior wall and ventricular septum were calculated. The results showed that mean MVS was slower at each level including mitral annular, basal, middle and apical segments in the HCM patients than that in the healthy subjects (P<0.01). There were no significant differences in mean MVS between obstructive and non-obstructive groups in HCM patients. MVS of all regional myocardial segments along long-axis in the HCM patients were significantly slower than that in the healthy subjects (P<0. 05), but there was no significant difference in MVS of all regional myocardial segments along long-axis between hypertrophied and non-hypertrophied group in the HCM patients. Ri was significantly lower in the HCM patients than that in the healthy subjects. The LV regional myocardial contractility along long-axis was impaired not only in the hypertrophied wall but also in the non-hypertrophied one in patients with HCM, suggesting that QTVI can assess accurately LV regional systolic function in patient with HCM and provides a novel means for an early diagnosis before and independent of hypertrophy.

  15. Relation of left ventricular thickness to age and gender in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Maron, Barry J; Casey, Susan A; Hurrell, David G; Aeppli, Dorothee M

    2003-05-15

    Left ventricular (LV) wall thickening is the most consistent clinical marker of hypertrophic cardiomyopathy (HC), and characteristically increases substantially during adolescence. In this study, we used 2-dimensional echocardiography to develop a cross-sectional profile of LV wall thicknesses in adult patients with HC. We studied a regional community-based cohort of 239 consecutively enrolled patients (aged 18 to 91 years). On average, maximum LV wall thickness decreased relative to increasing age (p = 0.007) within 4 age groups: 22.8 +/- 5.1 mm (18 to 39 years) to 22.1 +/- 5.1 mm (40 to 59 years) to 21.1 +/- 3.7 mm (60 to 74 years) to 20.8 +/- 3.6 mm (>or=75 years). The LV thickness index (summation of wall thicknesses in all 4 segments) also decreased with age (p = 0.017): 63.0 +/- 12.2 mm to 59.8 +/- 11.9 mm to 58.3 +/- 10.4 mm to 57.9 +/- 9.8 mm. Decreasing magnitude of LV hypertrophy was independently associated with increasing age, but not with other relevant disease variables, such as symptoms and outflow obstruction. However, when separated by gender, this inverse relation between age and LV wall thickness was statistically significant only for women (p = 0.007). In conclusion, in an unselected HC cohort, cross-sectional analysis showed a modest but statistically significant inverse relation between age and LV hypertrophy that was largely gender-specific for women. This association constitutes another facet of the natural history of this complex and heterogenous disease and may reflect disproportionate occurrence of premature death in young patients with HC with marked hypertrophy or possibly gradual LV remodeling.

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

    Energy Technology Data Exchange (ETDEWEB)

    Chikamori, T.; Dickie, S.; Poloniecki, J.D.; Myers, M.J.; Lavender, J.P.; McKenna, W.J. (Hammersmith Hospital, London (England))

    1990-02-15

    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.

  17. 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.)

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

    Directory of Open Access Journals (Sweden)

    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.

  19. 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.

  20. 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.

  1. Evaluation of apical subtype of hypertrophic cardiomyopathy using cardiac magnetic resonance imaging with gadolinium enhancement.

    Science.gov (United States)

    Kebed, Kalie Y; Al Adham, Raed I; Bishu, Kalkidan; Askew, J Wells; Klarich, Kyle W; Araoz, Philip A; Foley, Thomas A; Glockner, James F; Nishimura, Rick A; Anavekar, Nandan S

    2014-09-01

    Apical hypertrophic cardiomyopathy (HC) is an uncommon variant of HC. We sought to characterize cardiac magnetic resonance imaging (MRI) findings among apical HC patients. This was a retrospective review of consecutive patients with a diagnosis of apical HC who underwent cardiac MRI examinations at the Mayo Clinic (Rochester, MN) from August 1999 to October 2011. Clinical and demographic data at the time of cardiac MRI study were abstracted. Cardiac MRI study and 2-dimensional echocardiograms performed within 6 months of the cardiac MRI were reviewed; 96 patients with apical HC underwent cardiac MRI examinations. LV end-diastolic and end-systolic volumes were 130.7 ± 39.1 ml and 44.2 ± 20.9 ml, respectively. Maximum LV thickness was 19 ± 5 mm. Hypertrophy extended beyond the apex into other segments in 57 (59.4%) patients. Obstructive physiology was seen in 12 (12.5%) and was more common in the mixed apical phenotype than the pure apical (19.3 vs 2.6%, p = 0.02). Apical pouches were noted in 39 (40.6%) patients. Late gadolinium enhancement (LGE) was present in 70 (74.5%) patients. LGE was associated with severe symptoms and increased maximal LV wall thickness. In conclusion, cardiac MRI is well suited for studying the apical form of HC because of difficulty imaging the cardiac apex with standard echocardiography. Cardiac MRI is uniquely suited to delineate the presence or absence of an apical pouch and abnormal myocardial LGE that may have implications in the natural history of apical HM. In particular, the presence of abnormal LGE is associated with clinical symptoms and increased wall thickness. PMID:25037678

  2. Reproducibility of Gadolinium Enhancement Patterns and Wall Thickness in Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Gaston A. Rodriguez-Granillo

    2016-01-01

    Full Text Available Abstract Background: Reproducibility data of the extent and patterns of late gadolinium enhancement (LGE in hypertrophic cardiomyopathy (HCM is limited. Objective: To explore the reproducibility of regional wall thickness (WT, LGE extent, and LGE patterns in patients with HCM assessed with cardiac magnetic resonance (CMR. Methods: The extent of LGE was assessed by the number of segments with LGE, and by the total LV mass with LGE (% LGE; and the pattern of LGE-CMR was defined for each segment. Results: A total of 42 patients (672 segments with HCM constituted the study population. The mean WT measurements showed a mean difference between observers of -0.62 ± 1.0 mm (6.1%, with limits of agreement of 1.36 mm; -2.60 mm and intraclass correlation coefficient (ICC of 0.95 (95% CI 0.93-0.96. Maximum WT measurements showed a mean difference between observers of -0.19 ± 0.8 mm (0.9%, with limits of agreement of 1.32 mm; -1.70 mm, and an ICC of 0.95 (95% CI 0.91-0.98. The % LGE showed a mean difference between observers of -1.17 ± 1.2 % (21%, with limits of agreement of 1.16%; -3.49%, and an ICC of 0.94 (95% CI 0.88-0.97. The mean difference between observers regarding the number of segments with LGE was -0.40 ± 0.45 segments (11%, with limits of agreement of 0.50 segments; -1.31 segments, and an ICC of 0.97 (95% CI 0.94-0.99. Conclusions: The number of segments with LGE might be more reproducible than the percent of the LV mass with LGE.

  3. 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

  4. Significance of positive or negative thallium-201 scintigraphy in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Myocardial ischemia, fibrosis and infarction may occur in patients with hypertrophic cardiomyopathy (HC) in the absence of epicardial coronary artery disease. To determine their prevalence and relation with common characteristics, stress thallium-201 scintigraphy was performed in 28 patients. Eleven (39%) had positive scans despite normal epicardial coronary arteries (7 patients) or a pretest risk of coronary disease less than or equal to 5% (4 patients). There was no relation between thallium defects and age, sex, chest pain or outflow tract gradients at rest. However, the mean left ventricular ejection fraction was significantly lower in those with perfusion abnormalities compared with those without (64 +/- 15 vs 75 +/- 11%, respectively, p less than 0.05). Also, the mean ventricular septal thickness was greater in patients with positive scans (27 +/- 7 vs 21 +/- 6 mm, p less than 0.05), and there was a nonparametric relation between increasing septal thickness and the frequency of positive scans (p less than 0.025). Seven of 11 patients with positive scans had ventricular tachycardia compared with none among those who had negative scans (p less than 0.001), and 5 of these 11 patients had conduction system disease requiring permanent pacemaker insertion compared with 1 of 17 with negative scans (p less than 0.025). It is concluded that thallium perfusion abnormalities are common in patients with HC in the absence of epicardial coronary disease, and are strongly associated with potentially lethal arrhythmias. Thallium scintigraphy appears to identify a subset of patients with HC at increased risk for sudden death, who therefore require closer follow-up

  5. Clinical analysis of echocardiography in diagnosis of 43 patients with hypertrophic cardiomyopathy%超声心动图诊断肥厚型心肌病43例临床分析

    Institute of Scientific and Technical Information of China (English)

    文军霞

    2014-01-01

    目的 探讨超声心动图对肥厚型心肌病的诊断价值.方法 回顾性分析43例肥厚型心肌病患者的超声心动图影像学资料.结果 43例肥厚型心肌病患者中梗阻性肥厚型心肌病12例,非梗阻性肥厚型心肌病31例;对称性肥厚型心肌病7例,非对称性肥厚型心肌病34例,心尖肥厚型心肌病2例;婴幼儿肥厚型心肌病2例.全部确诊.结论 超声心动图对诊断肥厚型心肌病具有重要价值.%Objective To investigate the diagnosis value of echocardiography on hypertropic cardiomyopathy.Methods The echocardiography image data of 43 patients with hypertrophic cardiomyopathy were retrospectively analyzed.Results Among the 43 patients with hypertrophic cardiomyopathy,there were 12 cases of obstructive hypertrophic cardiomyopathy,31 cases of nonobstructive hypertrophic cardiomyopathy ; 7 cases of symmetrical hypertrophic cardiomyopathy,34 cases of asymmetric hypertrophic cardiomyopathy,2 cases of apical hypertrophic cardiomyopathy; 2 cases of infantile hypertrophic cardiomyopathy.All patients were diagnosed definitely.Conclusions Echocardiograph has important value in the diagnosis of hypertrophic cardiomyopathy.

  6. Usefulness of Electrocardiographic Patterns at Presentation to Predict Long-term Risk of Cardiac Death in Patients With Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Biagini, Elena; Pazzi, Chiara; Olivotto, Iacopo; Musumeci, Beatrice; Limongelli, Giuseppe; Boriani, Giuseppe; Pacileo, Giuseppe; Mastromarino, Vittoria; Bacchi Reggiani, Maria Letizia; Lorenzini, Massimiliano; Lai, Francesco; Berardini, Alessandra; Mingardi, Francesca; Rosmini, Stefania; Resciniti, Elvira; Borghi, Claudia; Autore, Camillo; Cecchi, Franco; Rapezzi, Claudio

    2016-08-01

    The objective of this study was to investigate the prognostic significance of 12-lead electrocardiogram (ECG) patterns in a large multicenter cohort of patients with hypertrophic cardiomyopathy; 1,004 consecutive patients with hypertrophic cardiomyopathy and a recorded standard ECG (64% men, mean age 50 ± 16 years) were evaluated at 4 Italian centers. The study end points were sudden cardiac death (SCD) or surrogates, including appropriate implanted cardiac defibrillator discharge and resuscitated cardiac arrest and major cardiovascular events (including SCD or surrogates and death due to heart failure, cardioembolic stroke, or heart transplantation). Prevalence of baseline electrocardiographic characteristics was: normal ECG 4%, ST-segment depression 56%, pseudonecrosis waves 33%, "pseudo-ST-segment elevation myocardial infarction (STEMI)" pattern 17%, QRS duration ≥120 ms 17%, giant inverted T waves 6%, and low QRS voltages 3%. During a mean follow-up of 7.4 ± 6.8 years, 77 patients experienced SCD or surrogates and 154 patients experienced major cardiovascular events. Independent predictors of SCD or surrogates were unexplained syncope (hazard ratio [HR] 2.5, 95% confidence interval [CI] 1.4 to 4.5, p = 0.003), left ventricular ejection fraction power of the current model. PMID:27289293

  7. Assessment of Left Ventricular Longitudinal Regional Myocardial Systolic Function by Strain Imaging Echocardiography in Patients with Hypertrophic Cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    LIU Yani; DENG Youbin; LI Xiulan; CHANG Qing; LU Yongping; LI Chunlei

    2005-01-01

    To assess the left ventricular longitudinal regional myocardial systolic function by strain imaging (SI) echocardiography and to study the relationship between regional myocardial systolic function and left ventricular structure in patients with hypertrophic cardiomyopathy (HCM). SI echocardiography were performed in 18 patients with HCM and 17 healthy subjects. For each wall,regional myocardial systolic strain was analyzed at the basal, mid, and apical level respectively.And the peak systolic strain was measured. Our results showed that the patients with HCM had reduced peak systolic strain at almost each segment of different walls when compared with healthy subjects. There was significant correlation between the mid-septum peak systolic strain and the thickness of IVS, so was the correlation between the mid-septum peak systolic strain and the IVS to LVPW thickness ratio. This study demonstrated that the left ventricular longitudinal regional myocardial systolic function was abnormal in HCM, and this kind of abnormalities existed extensively in hypertrophic and non-hypertrophic cardiac segments. The degrees of left ventricle hypertrophy and asymmetry are related to the myocardial regional systolic function in HCM.

  8. Redistribution of myocardial perfusion during permanent dual chamber pacing in symptomatic non-obstructive hypertrophic cardiomyopathy : A quantitative positron emission tomography study

    NARCIS (Netherlands)

    Posma, JL; Blanksma, PK; vanderWall, EE

    1996-01-01

    Dual chamber pacing causes significant symptomatic improvement in many patients with hypertrophic cardiomyopathy. The mechanism behind this beneficial response is not fully understood. Positron emission tomography showed a redistribution of myocardial flow during pacing in a patient with non-obstruc

  9. DETRAINING-RELATED CHANGES IN LEFT VENTRICULAR WALL THICKNESS AND LONGITUDINAL STRAIN IN A YOUNG ATHLETE LIKELY TO HAVE HYPERTROPHIC CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    Cesare de Gregorio

    2012-09-01

    Full Text Available One of the diagnostic criteria in order to differentiate between physiological and pathological left ventricular hypertrophy is the wall thickness reduction after at least 3-month detraining period, which is considered a marker of the athlete's heart. This report describes detraining-related regression of LV hypertrophy and improvement in myocardial deformation in a junior athlete likely to have hypertrophic cardiomyopathy

  10. ACUTE INTRAVENOUS VERSUS CHRONIC ORAL-DRUG EFFECTS OF VERAPAMIL ON LEFT-VENTRICULAR DIASTOLIC FUNCTION IN PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

    NARCIS (Netherlands)

    POSMA, JL; BLANKSMA, PK; VANDERWALL, E; LIE, KI

    1994-01-01

    The effects of acute intravenous (i.v.) versus long-term oral(p.o.) verapamil administration on diastolic function were studied in 20 patients with hypertrophic cardiomyopathy (HCM). We used a tip manometer catheter to record left ventricular pressure (LVP) tracings and a nuclear probe to measure LV

  11. Transcoronary ablation of septal hypertrophy (TASH): a new treatment option for hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Kuhn, H; Gietzen, F H; Leuner, C; Schäfers, M; Schober, O; Strunk-Müller, C; Obergassel, L; Freick, M; Gockel, B; Lieder, F; Raute-Kreinsen, U

    2000-01-01

    In 1991, our group started to develop a catheter interventional therapy for hypertrophic obstructive cardiomyopathy (HOCM). The new concept was proposed in 1994. It is based on the conventional PTCA technique with the aim of inducing an artificial myocardial infarction by instillation of 96% ethanol into the most proximally situated septal branch of the left anterior descending coronary artery. This leads to a subaortic contraction disorder with subsequent decrease of the intraventricular pressure gradient, shrinkage of the hypertrophied septal bulge and widening of the outflow tract ("therapeutic remodeling"). The subaortic defect is small and well demarcated as assessed by left ventricular angiography, transesophageal echocardiography and 18 F-glucose positron emission tomography. The term transcoronary ablation of septum hypertrophy (TASH) was suggested. Our patient cohort that now comprises 215 therapeutic procedures in 187 patients underwent a large variety of prospective studies (maximum follow-up 4.5 years) including invasive controls at regular intervals, investigation of hemodynamics at rest and at exercise, transesophageal and transthoracic echocardiography, Doppler echocardiography during bicycle exercise, electrophysiologic testing, Holter monitoring and measurement of myocardial metabolism and perfusion, assessment of microembolic events by transcranial Doppler sonography and histological examinations. This article gives an overview and reports our increasing experience in applying TASH. The following post-TASH findings were obtained: significant hemodynamic and clinical improvement at rest and at exercise, decrease of septum thickness, increase of outflow tract area and decrease of induced ventricular tachycardia. There were well-demarcated, histologically atypical subaortic myocardial defects, no microembolic events, abnormal early peak of infarct related enzymes, and no change of baroreflex sensitivity. Pre-/post-TASH evaluations of the patients

  12. Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Cecconi, Massimiliano; Parodi, Maria I; Formisano, Francesco; Spirito, Paolo; Autore, Camillo; Musumeci, Maria B; Favale, Stefano; Forleo, Cinzia; Rapezzi, Claudio; Biagini, Elena; Davì, Sabrina; Canepa, Elisabetta; Pennese, Loredana; Castagnetta, Mauro; Degiorgio, Dario; Coviello, Domenico A

    2016-10-01

    Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did not encode thick/intermediate and thin myofilament (TTm) proteins and, among them, 3 responsible of HCM phenocopy, was created. Ninety-two DNA samples were analyzed by the Ion Personal Genome Machine: 73 DNA samples (training set), previously genotyped in some of the genes by Sanger sequencing, were used to optimize the NGS strategy, whereas 19 DNA samples (discovery set) allowed the evaluation of NGS performance. In the training set, we identified 72 out of 73 expected mutations and 15 additional mutations: the molecular diagnosis was achieved in one patient with a previously wild-type status and the pre-excitation syndrome was explained in another. In the discovery set, we identified 20 mutations, 5 of which were in genes encoding non-TTm proteins, increasing the diagnostic yield by approximately 20%: a single mutation in genes encoding non-TTm proteins was identified in 2 out of 3 borderline HCM patients, whereas co-occuring mutations in genes encoding TTm and galactosidase alpha (GLA) altered proteins were characterized in a male with HCM and multiorgan dysfunction. Our combined targeted NGS-Sanger sequencing-based strategy allowed the molecular diagnosis of HCM with greater efficiency than using the conventional (Sanger) sequencing alone. Mutant alleles encoding non-TTm proteins may aid in the complete understanding of the genetic and phenotypic heterogeneity of HCM: co-occuring mutations of genes encoding TTm and non-TTm proteins could explain the wide variability of the HCM phenotype, whereas mutations in genes encoding only the non

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

    Directory of Open Access Journals (Sweden)

    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

  14. Hypertrophic cardiomyopathy: Cardiac structural and microvascular abnormalities as evaluated with multi-parametric MRI

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Yu-Dong, E-mail: njmu_zyd@163.com [Department of Radiology, the First Affiliated Hospital with Nanjing Medical University (China); Li, Meijiao, E-mail: newgljyk@163.com [Department of Radiology, Peking University First Hospital (China); Qi, Liang, E-mail: qiliang1120@126.com [Department of Radiology, the First Affiliated Hospital with Nanjing Medical University (China); Wu, Chen-Jiang, E-mail: njmu_wcj@163.com [Department of Radiology, the First Affiliated Hospital with Nanjing Medical University (China); Wang, Xiaoying, E-mail: cjr.wangxiaoying@vip.163.com [Department of Radiology, Peking University First Hospital (China)

    2015-08-15

    Highlights: • LGE-present HCM had lower K{sup trans}, higher V{sub e} and MTT against LGE-absent HCM and normal group. • LGE-absent had significantly higher V{sub e} and MTT against normal group. • K{sup trans} was not changed between LGE-absent and normal group Microcirculatory dysfunction in HCM closely correlated to structural abnormality. - Abstract: Purpose: To determine the relationship between myocardial structural and microvascular abnormality in hypertrophic cardiomyopathy (HCM) by multi-parametric cardiac MRI. Materials and methods: Twenty-four HCM and eighteen controls were retrospectively included. Left ventricle mass (LVM), LV end-systolic and end-diastolic volume (LVESV, LVEDV), LV ejection fraction (LVEF), and 16-segment wall thickness at ES and ED (SESWT, SEDWT) were assessed with a 2D cine-MRI. Myocardial perfusion (reflected by K{sup trans}), interstitial volume (V{sub e}) and mean transmit time (MTT) were evaluated with a model-dependent dynamic contrast-enhanced MRI. Myocardial fibrosis was assessed with late gadolinium enhancement (LGE) imaging. Results: K{sup trans} was significantly decreased in LGE-present (0.74 ± 0.15 mL/g/min) against LGE-absent (0.55 ± 0.14 mL/g/min, p = 0.030) and normal group (0.81 ± 0.32 mL/g/min, p < 0.001), but was unchanged in LGE-absent against normal group (p > 0.05). V{sub e} and MTT were significantly increased in LGE-present (V{sub e}: 26.7 ± 15.7%; MTT: 28.6 ± 21.3 s) against LGE-absent (37.6 ± 18.3%; 49.8 ± 30.5 s) and normal group (19.7 ± 6.9%; 15.1 ± 3.9 s; all p < 0.001), and were significantly increased in LGE-absent against normal group (p < 0.001). LGE significantly correlated to K{sup trans}, V{sub e}, MTT, and SESWT (ρ = 0.232, −0.247, −0.443, and −0.207, respectively). K{sup trans} negatively correlated to SEDWT and SESWT (ρ = −0.224 and −0.231). V{sub e} and MTT positively correlated to SEDWT (V{sub e}: ρ = 0.223; MTT: ρ = 0.239) and SESWT (V{sub e}: ρ = 0.248; MTT:

  15. Heart rate turbulence and clinical prognosis in hypertrophic cardiomyopathy and myocardial infarction.

    Science.gov (United States)

    Kawasaki, Tatsuya; Azuma, Akihiro; Asada, Satoshi; Hadase, Mitsuyoshi; Kamitani, Tadaaki; Kawasaki, Shingo; Kuribayashi, Toshiro; Sugihara, Hiroki

    2003-07-01

    Short-term fluctuations in sinus cycle length after a single ventricular premature complex (VPC) have attracted considerable interest and has been termed heart rate turbulence (HRT). The onset and slope of HRT have each been reported to be independent and powerful predictors of clinical prognosis in patients with myocardial infarction (MI), but there are no data available for patients with hypertrophic cardiomyopathy (HCM). Thus the present study analyzed the 2 HRT variables to determine their prognostic value in HCM patients. Holter monitoring data were obtained from 104 HCM patients, 44 MI patients and 56 normal controls, from which singular VPCs followed by >or=20 normal sinus beats were isolated and the HRT onset and slope were automatically calculated. HRT onset and slope were abnormal in MI patients, but not in HCM patients, as compared with normal control subjects (onset -1.1+/-2.9, -2.1+/-3.4, -1.4+/-5.1%; slope 10.6 +/-8.6, 18.0+/-13.9, 16.6+/-9.7 ms/beat, respectively). During the follow-up period of 27+/-10 months, 7 HCM patients and 10 MI patients either died from cardiac death or were hospitalized for congestive heart failure. In MI patients, HRT onset was higher and the HRT slope was lower in patients with cardiac events than in patients without (onset 1.1+/-2.7 vs -1.7+/-2.7%, p=0.011; slope 5.7+/-4.3 vs 12.0+/-9.0 ms/beat, p=0.028). In HCM patients, however, the HRT onset and slope were similar between patients with and without cardiac events (onset -2.0+/-2.0 vs -2.1 +/-3.5%, p=0.98; slope 18.1+/-10.9 vs 18.0+/-14.0 ms/beat, p=0.68). In conclusion, unlike MI patients, the HRT variables in selected HCM patients were not abnormal and failed to predict the clinical prognosis.

  16. Cardiac magnetic field map topology quantified by Kullback-Leibler entropy identifies patients with hypertrophic cardiomyopathy

    Science.gov (United States)

    Schirdewan, A.; Gapelyuk, A.; Fischer, R.; Koch, L.; Schütt, H.; Zacharzowsky, U.; Dietz, R.; Thierfelder, L.; Wessel, N.

    2007-03-01

    Hypertrophic cardiomyopathy (HCM) is a common primary inherited cardiac muscle disorder, defined clinically by the presence of unexplained left ventricular hypertrophy. The detection of affected patients remains challenging. Genetic testing is limited because only in 50%-60% of all HCM diagnoses an underlying mutation can be found. Furthermore, the disease has a varied clinical course and outcome, with many patients having little or no discernible cardiovascular symptoms, whereas others develop profound exercise limitation and recurrent arrhythmias or sudden cardiac death. Therefore prospective screening of HCM family members is strongly recommended. According to the current guidelines this includes serial echocardiographic and electrocardiographic examinations. In this study we investigated the capability of cardiac magnetic field mapping (CMFM) to detect patients suffering from HCM. We introduce for the first time a combined diagnostic approach based on map topology quantification using Kullback-Leibler (KL) entropy and regional magnetic field strength parameters. The cardiac magnetic field was recorded over the anterior chest wall using a multichannel-LT-SQUID system. CMFM was calculated based on a regular 36 point grid. We analyzed CMFM in patients with confirmed diagnosis of HCM (HCM, n =33, 43.8±13 years, 13 women, 20 men), a control group of healthy subjects (NORMAL, n =57, 39.6±8.9 years; 22 women and 35 men), and patients with confirmed cardiac hypertrophy due to arterial hypertension (HYP, n =42, 49.7±7.9 years, 15 women and 27 men). A subgroup analysis was performed between HCM patients suffering from the obstructive (HOCM, n =19) and nonobstructive (HNCM, n =14) form of the disease. KL entropy based map topology quantification alone identified HCM patients with a sensitivity of 78.8% and specificity of 86.9% (overall classification rate 84.8%). The combination of the KL parameters with a regional field strength parameter improved the overall

  17. Mid-ventricular obstructive hypertrophic cardiomyopathy with apical aneurysm and sustained ventricular tachycardia: a case report and literature review

    Institute of Scientific and Technical Information of China (English)

    GAO Xiao-jin; KANG Lian-ming; ZHANG Jian; DOU Ke-fei; YUAN Jian-song; YANG Yue-jin

    2011-01-01

    The case is a 54-year-old man with hypertrophic cardiomyopathy, mid-ventricular obstruction, apical aneurysm, and recurrence sustained monomorphic ventricular tachycardia (VT). A coronary angiogram revealed myocardial bridging located in the middle of the left anterior descending coronary artery (LAD), and the left ventriculogram showed an hour-glass appearance of the left ventricular cavity. There was a significant pressure gradient of 60 mmHg across the mid-ventricular obliteration at rest. A successful myectomy of the inappropriate hypertrophy myocardium and excision of the apical aneurysm were performed. Pathologic analysis demonstrated fibrosis in the apical aneurysm and thickened and narrowed vessels in the adjacent area. During the follow-up of eighteen months, the patient remained clinically stable and free from arrhythmic recurrence.

  18. Evaluation of myocardial perfusion and ventricular shape in hypertrophic cardiomyopathy using 99mTc-tetrofosmin scintigraphy

    International Nuclear Information System (INIS)

    Hypertrophic cardiomyopathy (HCM) is known to have the impairment of myocardial perfusion as well as irregularly hypertrophic myocardium. To evaluate myocardial perfusion and ventricular shape in HCM, 99mTc-Tetrofosmin scintigraphy was performed after exercise (Ex) and at resting state (Re) in 10 patients with HCM and was compared with early image (Ea) and delayed image (De) of 201Tl scintigraphy performed after exercise. SPECT images of both 99mTc-Tetrofosmin and 201Tl scintigraphy were analyzed with five scaled visual scores set in 18 segments. The complete concordance ratio between 99mTc-Tetrofosmin (Ex and Re) and 201Tl(Ea and De) images in segmental analysis was 75%. Image quality of 99mTc-Tetrofosmin was seemed to be superior to that of 201Tl scintigraphy. In 9 patients with HCM, 99mTc-Tetrofosmin scintigraphy was performed under the ECG gating and the thickness of septal and free wall was measured. Good correlation was observed with the data by ultrasound cardiography (r=0.79, p99mTc-Tetrofosmin scintigraphy is useful for the evaluation of myocardial morphology as well as perfusion abnormality. (author)

  19. Gene expression patterns in transgenic mouse models of hypertrophic cardiomyopathy caused by mutations in myosin regulatory light chain.

    Science.gov (United States)

    Huang, Wenrui; Kazmierczak, Katarzyna; Zhou, Zhiqun; Aguiar-Pulido, Vanessa; Narasimhan, Giri; Szczesna-Cordary, Danuta

    2016-07-01

    Using microarray and bioinformatics, we examined the gene expression profiles in transgenic mouse hearts expressing mutations in the myosin regulatory light chain shown to cause hypertrophic cardiomyopathy (HCM). We focused on two malignant RLC-mutations, Arginine 58→Glutamine (R58Q) and Aspartic Acid 166 → Valine (D166V), and one benign, Lysine 104 → Glutamic Acid (K104E)-mutation. Datasets of differentially expressed genes for each of three mutants were compared to those observed in wild-type (WT) hearts. The changes in the mutant vs. WT samples were shown as fold-change (FC), with stringency FC ≥ 2. Based on the gene profiles, we have identified the major signaling pathways that underlie the R58Q-, D166V- and K104E-HCM phenotypes. The correlations between different genotypes were also studied using network-based algorithms. Genes with strong correlations were clustered into one group and the central gene networks were identified for each HCM mutant. The overall gene expression patterns in all mutants were distinct from the WT profiles. Both malignant mutations shared certain classes of genes that were up or downregulated, but most similarities were noted between D166V and K104E mice, with R58Q hearts showing a distinct gene expression pattern. Our data suggest that all three HCM mice lead to cardiomyopathy in a mutation-specific manner and thus develop HCM through diverse mechanisms. PMID:26906074

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

    International Nuclear Information System (INIS)

    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)

  1. Magnetic resonance imaging of hypertrophic cardiomyopathy. Evaluation of diastolic function; MRT-Bildgebung bei hypertropher Kardiomyopathie (HCM). Evaluation der diastolischen Funktion

    Energy Technology Data Exchange (ETDEWEB)

    Schwarz, F.; Reiser, M.F.; Theisen, D. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Deutsches Zentrum fuer Herzkreislaufforschung (DZHK), Muenchen (Germany); Schwab, F. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany); Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Josef Lissner Laboratory for Biomedical Imaging, Institut fuer Klinische Radiologie, Muenchen (Germany); Beckmann, B.M.; Schuessler, F.; Kaeaeb, S. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Medizinische Klinik und Poliklinik I, Muenchen (Germany); Zinsser, D.; Goelz, T. [Klinikum der Ludwig-Maximilians-Universitaet Muenchen, Campus Grosshadern, Institut fuer Klinische Radiologie, Muenchen (Germany)

    2013-01-15

    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.) [German] Die hypertrophe Kardiomyopathie (HCM) hat eine Praevalenz von ca. 0,2% und verlaeuft in vielen Faellen zeitlebens klinisch asymptomatisch. Falls es zur Ausbildung von Symptomen kommt, sind diese oft unspezifisch. Dies erklaert den Stellenwert der Bildgebung bei der Erstdiagnose und Verlaufsbeurteilung der HCM. Leitbefund ist eine myokardiale Hypertrophie mit Wanddicken von {>=} 15 mm. Waehrend die Echokardiographie ein hervorragendes Screeningverfahren ist, erlaubt die MRT eine umfassende Feindiagnostik bei der HCM, zu der gezaehlt werden: eine genaue Darstellung des Verteilungsmusters und des Schweregrads der Hypertrophie, eine detaillierte Analyse der linksventrikulaeren systolischen und diastolischen Funktion, eine Beurteilung und Quantifizierung

  2. Visualization of transcoronary ablation of septal hypertrophy in patients with hypertrophic obstructive cardiomyopathy: a comparison between cardiac MRI, invasive measurements and echocardiography

    OpenAIRE

    Sohns, Christian; Sossalla, Samuel; Schmitto, Jan D; Jacobshagen, Claudius; Raab, Björn; Obenauer, Silvia; Maier, Lars S.

    2010-01-01

    Objective Hypertrophic obstructive cardiomyopathy (HOCM) is treated by surgical myectomy or transcoronary ablation of septal hypertrophy (TASH). The aim of this study was to visualize the feasibility, success and short-term results of TASH on the basis of cardiac MRI (CMR) in comparison with cardiac catheterization and echocardiography. Methods In this in vivo study, nine patients with HOCM were treated with TASH. Patients were evaluated by transthoracic echocardiography, invasive cardiac ang...

  3. Progress of auxiliary examinations in the diagnosis and treatment of hypertrophic cardiomyopathy%肥厚型心肌病诊治的辅助检查进展

    Institute of Scientific and Technical Information of China (English)

    李秀兰

    2013-01-01

    肥厚型心肌病是一种常染色体显性遗传性心肌疾病,其遗传特性、临床表型、病程和预后存在显著异质性,临床诊治极具挑战性.多普勒组织成像、定量组织速度成像、组织应变率成像、心脏磁共振及延迟钆增强等辅助检查对早期诊断、指导治疗及判断预后起重要作用.该文就肥厚型心肌病在辅助检查方面的进展作一综述.%Hypertrophic cardiomyopathy is regarded as an inherited cardiac disorder caused by autosomal dominant mutations.It has the remarkable heterogeneity of hereditary capacity,clinical phenotype,clinical course and prognosis,thus the diagnosis and treatment of this disease is challenging.Assistant examinations,such as Doppler tissue imaging,quantitative tissue velocity imaging,tissue strain imaging,cardiac magnetic resonance and late gadolinium enhancement,are important to early diagnose,guide management and judge prognosis for hypertrophic cardiomyopathy.This paper reviews the progresses of assistant examinations in hypertrophic cardiomyopathy.

  4. 肥厚性心肌病介入治疗的研究进展%Research progress of Hypertrophic cardiomyopathy interventional thera-py

    Institute of Scientific and Technical Information of China (English)

    孙丹; 司春婴; 王贺; 罗明华; 解金红; 陈玉善; 关怀敏

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a hereditary cardiovascular disease which with hypertrophy of the myocardial and disordered heart muscle fibers, which is easy to cause syncopeor sudden death. With the continuous de-velopment of medical technology progess, interventional therapy has become the main Hypertrophic cardiomyopathy treatment means, such as installing pacemaker, installing the ICD, percutaneous ventricular septal myocardial ablation and other new technology, clinical applications have different characteristics. This article mainly reviews the main inter-ventional therapy for hypertrophic cardiomyopathy.%肥厚性心肌病是一种以心肌肥厚和心肌纤维排列紊乱为特点的遗传性心血管病,易致晕厥甚至猝死。随着医学技术的不断发展进步,介入治疗已经成为肥厚性心肌病的主要治疗手段,例如安装起搏器,安装心脏除颤器,经皮室间隔心肌消融术以及其他新技术,临床应用各有特点,本文主要对肥厚性心肌病的介入治疗进行综述。

  5. 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

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

    Science.gov (United States)

    Cashman, Timothy J; Josowitz, Rebecca; Johnson, Bryce V; Gelb, Bruce D; Costa, Kevin D

    2016-01-01

    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 screening new

  7. Cardiomyopathy

    Science.gov (United States)

    Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or ... tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have ...

  8. The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Li, Xiaochuan; Suphamungmee, Worawit [Department of Physiology and Biophysics, Boston University School of Medicine, Boston, MA 02118 (United States); Janco, Miro; Geeves, Michael A. [School of Biosciences, University of Kent, Canterbury, Kent CT2 7NJ (United Kingdom); Marston, Steven B. [National Heart and Lung Institute, Imperial College London, London W12 0NN (United Kingdom); Fischer, Stefan, E-mail: stefan.fischer@iwr.uni-heidelberg.de [Computational Biochemistry Group, University of Heidelberg, Heidelberg D-69120 (Germany); Lehman, William, E-mail: wlehman@bu.edu [Department of Physiology and Biophysics, Boston University School of Medicine, Boston, MA 02118 (United States)

    2012-08-03

    Highlights: Black-Right-Pointing-Pointer Well-known tropomyosin mutants, D175N and E180G are linked to cardiomyopathies. Black-Right-Pointing-Pointer The structural mechanics of D175N and E180G tropomyosins have been investigated. Black-Right-Pointing-Pointer D175N and E180G mutations increase both local and global tropomyosin flexibility. Black-Right-Pointing-Pointer In muscle, this increased flexibility will enhance myosin interactions on actin. Black-Right-Pointing-Pointer Extra myosin interaction can alter cardiac Ca{sup 2+}-switching, leading to dysfunction. -- Abstract: Point mutations targeting muscle thin filament proteins are the cause of a number of cardiomyopathies. In many cases, biological effects of the mutations are well-documented, whereas their structural and mechanical impact on filament assembly and regulatory function is lacking. In order to elucidate molecular defects leading to cardiac dysfunction, we have examined the structural mechanics of two tropomyosin mutants, E180G and D175N, which are associated with hypertrophic cardiomyopathy (HCM). Tropomyosin is an {alpha}-helical coiled-coil dimer which polymerizes end-to-end to create an elongated superhelix that wraps around F-actin filaments of muscle and non-muscle cells, thus modulating the binding of other actin-binding proteins. Here, we study how flexibility changes in the E180G and D175N mutants might affect tropomyosin binding and regulatory motion on F-actin. Electron microscopy and Molecular Dynamics simulations show that E180G and D175N mutations cause an increase in bending flexibility of tropomyosin both locally and globally. This excess flexibility is likely to increase accessibility of the myosin-binding sites on F-actin, thus destabilizing the low-Ca{sup 2+} relaxed-state of cardiac muscle. The resulting imbalance in the on-off switching mechanism of the mutants will shift the regulatory equilibrium towards Ca{sup 2+}-activation of cardiac muscle, as is observed in affected

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

    International Nuclear Information System (INIS)

    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.

  10. 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.

  11. Kinetics of a single cross-bridge in familial hypertrophic cardiomyopathy heart muscle measured by reverse Kretschmann fluorescence

    Science.gov (United States)

    Mettikolla, Prasad; Calander, Nils; Luchowski, Rafal; Gryczynski, Ignacy; Gryczynski, Zygmunt; Borejdo, Julian

    2010-01-01

    Familial hypertrophic cardiomyopathy (FHC) is a serious heart disease that often leads to a sudden cardiac death of young athletes. It is believed that the alteration of the kinetics of interaction between actin and myosin causes FHC by making the heart to pump blood inefficiently. We set out to check this hypothesis ex vivo. During contraction of heart muscle, a myosin cross-bridge imparts periodic force impulses to actin. The impulses are analyzed by fluorescence correlation spectroscopy (FCS) of fluorescently labeled actin. To minimize observation volume and background fluorescence, we carry out FCS measurements in surface plasmon coupled emission mode in a reverse Kretschmann configuration. Fluorescence is a result of near-field coupling of fluorophores excited in the vicinity of the metal-coated surface of a coverslip with the surface plasmons propagating in the metal. Surface plasmons decouple on opposite sides of the metal film and emit in a directional manner as far-field p-polarized radiation. We show that the rate of changes of orientation is significantly faster in contracting cardiac myofibrils of transgenic mice than wild type. These results are consistent with the fact that mutated heart muscle myosin translates actin faster in in vitro motility assays.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  13. 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.

  14. 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.

  15. Radionuclide assessment of left ventricular perfusion and function after percutaneous translumial septal myocardial ablation in patients with hypertrophic obstructive cardiomyopathy

    International Nuclear Information System (INIS)

    Objective: The purpose of this study was to evaluate the clinical value of 99Tcm-MIBI myocardial perfusion imaging (MPI) and equilibrium radionuclide angiography (ERNA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) who underwent percutaneous translumial septal myocardial ablation (PTSMA). Methods: Eight patients (5 men, 3 women) with symptomatic HOCM underwent rest 99Tcm-MIBI MPI and ERNA before and after PTSMA. The septal-to-lateral counts ratio and the extent of septal perfusion defect of the left ventricle were calculated from MPI. The left ventricular ejection fraction (EF), peak filling rate (PFR) and septal regional EF were measured from ERNA. Results: 99Tcm-MIBI MPI showed increased septa199Tcm-MIBI uptake before PTSMA in all patients, but septal perfusion defects after PTSMA in 7 patients. The count-activity ratio of the septal-to-lateral wall decreased from 1.15±0.11 to 0.76±0.14 (p0.05 ]. Conclusion: MPI and ERNA are useful for the assessment of myocardial pefusion and change of left ventricular function after PTSMA in patients with HOCM. (authors)

  16. Long term evolution of magnetic resonance imaging characteristics in a case of atypical left lateral wall hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Tobias; Gassenmaier; Bernhard; Petritsch; Andreas; S; Kunz; Spyridon; Gkaniatsas; Philipp; D; Gaudron; Frank; Weidemann; Peter; Nordbeck; Meinrad; Beer

    2015-01-01

    We are reporting a long-time magnetic resonance imaging(MRI) follow-up in a rare case of cardiac left lateral wall hypertrophy. Hypertrophic cardiomyopathy(HCM) is the most common genetic cardiovascular disorder and a significant cause of sudden cardiac death. Cardiac magnetic resonance(CMR) imaging can be a valuable tool for assessment of detailed information on size,localization,and tissue characteristics of hypertrophied myocardium. However,there is still little knowledge of long-term evolution of HCM as visualized by magnetic resonance imaging. Recently,our group reported a case of left lateral wall HCM as a rare variant of the more common forms,such as septal HCM,or apical HCM. As we now retrieved an old cardiac MRI acquired in this patient more than 20 years ago,we are able to provide the thrilling experience of an ultra-long MRI followup presentation in this rare case of left lateral wall hypertrophy. Furthermore,this case outlines the tremendous improvements in imaging quality within the last two decades of CMR imaging.

  17. Sudden Cardiac Arrest in a Patient With Apical Hypertrophic Cardiomyopathy: Case Report and a Brief Review of Literature.

    Science.gov (United States)

    Gupta, Tanush; Paul, Neha; Palaniswamy, Chandrasekar; Balasubramaniyam, Nivas; Aronow, Wilbert S; Kolte, Dhaval; Khera, Sahil; Shah, Amar B; Gass, Alan

    2016-01-01

    Apical hypertrophic cardiomyopathy (HCM) is a phenotypic variant of nonobstructive HCM, in which hypertrophy of the myocardium predominantly involves the left ventricular apex. It is common in Japanese and other Asian populations but is rare in the United States. Apical HCM has a relatively benign prognosis in terms of cardiovascular mortality; however, morbid events such as ventricular aneurysms, apical thrombi, diastolic dysfunction, atrial fibrillation, and myocardial infarction are not uncommon. We report a case of an 18-year-old white man who presented to our hospital after an out-of-hospital cardiac arrest. The patient had a witnessed collapse while playing basketball in the field. He was found to be pulseless and unresponsive by his coach, and cardiopulmonary resuscitation was immediately started. Upon arrival of emergency medical services, an automated external defibrillator advised shock and he was defibrillated thrice. Return of spontaneous circulation was achieved in 15 minutes. He was intubated for airway protection and was brought to the hospital. Therapeutic hypothermia was initiated. He demonstrated good neurological status after active rewarming. Subsequent cardiac magnetic resonance imaging was suggestive of apical HCM with right ventricular involvement. The patient underwent an implantable cardioverter defibrillator placement for secondary prevention and was subsequently discharged. In conclusion, apical HCM can rarely be associated with adverse cardiovascular events. The diagnosis may be missed on transthoracic 2-dimensional cardiac echocardiogram, and cardiac magnetic resonance imaging should be considered to exclude apical HCM in young patients who present after sudden cardiac arrest. PMID:25923227

  18. Cardiac MRI assessed left ventricular hypertrophy in differentiating hypertensive heart disease from hypertrophic cardiomyopathy attributable to a sarcomeric gene mutation

    Energy Technology Data Exchange (ETDEWEB)

    Sipola, Petri [Kuopio University Hospital, Department of Clinical Radiology, Kuopio (Finland); University of Eastern Finland, Institute of Clinical Medicine, Faculty of Health Sciences, Kuopio (Finland); Magga, Jarkko; Peuhkurinen, Keijo [Kuopio University Hospital, Department of Medicine, Kuopio (Finland); Husso, Minna [Kuopio University Hospital, Department of Clinical Radiology, Kuopio (Finland); Jaeaeskelaeinen, Pertti; Kuusisto, Johanna [Kuopio University Hospital, Department of Medicine, Kuopio (Finland); Kuopio University Hospital, Heart Center, P.O. Box 1777, Kuopio (Finland)

    2011-07-15

    To evaluate the value of cardiac magnetic resonance imaging (CMRI)-assessed left ventricular hypertrophy (LVH) in differentiating between hypertensive heart disease and hypertrophic cardiomyopathy (HCM). 95 unselected subjects with mild-to-moderate hypertension, 24 patients with HCM attributable to the D175N mutation of the {alpha}-tropomyosin gene and 17 control subjects were studied by cine CMRI. Left ventricular (LV) quantitative and qualitative characteristics were evaluated. LV maximal end-diastolic wall thickness, wall thickness-to-LV volume ratio, end-diastolic septum thickness and septum-to-lateral wall thickness ratio were useful measures for differentiating between LVH due to hypertension and HCM. The most accurate measure for identifying patients with HCM was the LV maximal wall thickness {>=}17 mm, with a sensitivity, specificity, negative predictive value, positive predictive value, and accuracy of 90%, 93%, 86%, 95% and 91%, respectively. LV maximal wall thickness in the anterior wall, or regional bulging in left ventricular wall was found only in patients with HCM. LV mass index was not discriminant between patients with HCM and those with LVH due to hypertension. LV maximal thickness measured by CMRI is the best anatomical parameter in differentiating between LVH due to mild-to-moderate hypertension and HCM attributable to a sarcomeric mutation. CMRI assessment of location and quality of LVH is also of value in differential diagnosis. (orig.)

  19. Outcome of patients with hypertrophic obstructive cardiomyopathy after percutaneous transluminal septal myocardial ablation and septal myectomy surgery

    Science.gov (United States)

    Qin, J. X.; Shiota, T.; Lever, H. M.; Kapadia, S. R.; Sitges, M.; Rubin, D. N.; Bauer, F.; Greenberg, N. L.; Agler, D. A.; Drinko, J. K.; Martin, M.; Tuzcu, E. M.; Smedira, N. G.; Lytle, B.; Thomas, J. D.

    2001-01-01

    OBJECTIVES: This study was conducted to evaluate follow-up results in patients with hypertrophic obstructive cardiomyopathy (HOCM) who underwent either percutaneous transluminal septal myocardial ablation (PTSMA) or septal myectomy. BACKGROUND: Controversy exists with regard to these two forms of treatment for patients with HOCM. METHODS: Of 51 patients with HOCM treated, 25 were treated by PTSMA and 26 patients via myectomy. Two-dimensional echocardiograms were performed before both procedures, immediately afterwards and at a three-month follow-up. The New York Heart Association (NYHA) functional class was obtained before the procedures and at follow-up. RESULTS: Interventricular septal thickness was significantly reduced at follow-up in both groups (2.3 +/- 0.4 cm vs. 1.9 +/- 0.4 cm for septal ablation and 2.4 +/- 0.6 cm vs. 1.7 +/- 0.2 cm for myectomy, both p Doppler, the resting pressure gradient (PG) across the left ventricular outflow tract (LVOT) significantly decreased immediately after the procedures in both groups (64 +/- 39 mm Hg vs. 28 +/- 29 mm Hg for PTSMA, 62 +/- 43 mm Hg vs. 7 +/- 7 mm Hg for myectomy, both p treatment for LVOT obstruction.

  20. Prevalence of suspected hypertrophic cardiomyopathy or left ventricular hypertrophy based on race and gender in teenagers using screening echocardiography

    Directory of Open Access Journals (Sweden)

    Bates Sharon

    2010-12-01

    Full Text Available Abstract Background The goal of this study was to evaluate the prevalence of suspected hypertrophic cardiomyopathy (HCM in a population of teenagers undergoing screening echocardiography for the detection of HCM. Method The Anthony Bates Foundation performs screening echocardiography for the prevention of sudden death. A total of 2,066 students were studied between the ages of 13 to 19 years. Suspected HCM was defined as any wall thickness ≥ 15 mm. LVH was defined as wall thickness ≥ 13 mm Results Prevalence of suspected HCM was 0.7% (14/2066. After adjusting for hypertension (HTN, the total prevalence was 0.5% (8/1457. In a subgroup analysis, 551 teenagers with documented race and LV wall thickness were identified between the ages of 13 - 19 years. African American teenagers [6% (3/50] had higher prevalence of suspected HCM [0.8% (4/501, OR 7.93, CI 1.72-36.49, p = 0.002]. After multivariate adjustment for age, gender, BMI and HTN (systolic BP >140 and diastolic BP of > 90, African American race remained independently associated with suspected HCM (OR 4.89, CI 1.24-39.62, p = 0.02. Conclusion The prevalence of suspected HCM in young teenagers is approximately 0.2%. This prevalence appears to be higher in African Americans. However, due to small number of African Americans in our population, our result needs to be confirmed in larger trials.

  1. Types of Cardiomyopathy

    Science.gov (United States)

    ... ventricles, making it harder for the heart to pump blood. Hypertrophic cardiomyopathy also can cause stiffness of the ... Over time, the heart loses the ability to pump blood effectively. Dilated cardiomyopathy can lead to heart failure , ...

  2. Interpretation of 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy%ACCF/AHA肥厚型心肌病诊断治疗指南2011解读

    Institute of Scientific and Technical Information of China (English)

    李艳兵; 刘兴鹏

    2012-01-01

    肥厚型心肌病是一种常见的心血管疾病.该指南是由美国心脏病学院基金会(ACCF)和美国心脏协会(AHA)联合推出的第一部关于肥厚型心肌病的指南.现就指南中涉及到肥厚型心肌病定义、诊断方法、病程特点以及治疗手段进行概括及解读.%Hypertrophic cardiomyopathy is a common genetic cardiovascular disease. In 2011 the first guidelines presented by the A-merican College of Cardiology Foundation and the American Heart Association about hypertrophic cardiomyopathy were released. This article . interprets the clinical definition, diagnostic technology, clinical course, and treatment methods of hypertrophic cardiomyopathy as outlined by the new guidelines.

  3. 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

  4. Utility of continuous wave Doppler echocardiography in the noninvasive assessment of left ventricular outflow tract pressure gradient in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Panza, J A; Petrone, R K; Fananapazir, L; Maron, B J

    1992-01-01

    Subaortic obstruction is an important determinant of the clinical presentation of and therapeutic approach to patients with hypertrophic cardiomyopathy. Therefore, assessment of the presence and magnitude of the intraventricular pressure gradient is paramount in the clinical evaluation of these patients. To establish the utility of continuous wave Doppler echocardiography in assessing the pressure gradient in hypertrophic cardiomyopathy, 28 patients representing the wide hemodynamic spectrum of this disease underwent simultaneous determination of the subaortic gradient by continuous wave Doppler ultrasound and cardiac catheterization. With use of the modified Bernoulli equation, the Doppler-estimated gradient showed a strong correlation with the maximal instantaneous pressure difference measured at catheterization, both under basal conditions (r = 0.93; p less than 0.0001) and during provocative maneuvers (r = 0.89; p less than 0.0001). In 26 of the 28 patients, all assessments of the subaortic gradient were in agreement within 15 mm Hg (average difference 5 +/- 3 mm Hg). In the other two patients there were substantial differences between these measurements (under basal conditions in one patient and after provocation in another), although the Doppler technique predicted the presence of marked subaortic obstruction in each. In both patients the erroneous interpretation was due to superimposition of the mitral regurgitation signal on that of left ventricular outflow. Doppler waveforms from the left ventricular outflow tract showed variability in contour among different patients and in individual patients. Hence, continuous wave Doppler echocardiography is a useful noninvasive method for estimating the subaortic gradient in patients with hypertrophic cardiomyopathy. However, technical factors such as contamination of the outflow tract jet with that of mitral regurgitation and variability in waveform configuration may importantly influence such assessments of the

  5. 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. PMID:24816179

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

    Directory of Open Access Journals (Sweden)

    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.

  7. 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.)

  8. Quantification of myocardial delayed enhancement and wall thickness in hypertrophic cardiomyopathy: Multidetector computed tomography versus magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Lei [Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Rd Beijing (China); Ma, Xiaohai, E-mail: maxi8238@gmail.com [Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Rd Beijing (China); Feuchtner, Gudrun Maria [Department of Radiology II, Innsbruck Medical University, Innsbruck (Austria); Zhang, Chen; Fan, Zhanming [Department of Radiology, Beijing Anzhen Hospital, Capital Medical University, No. 2 Anzhen Rd Beijing (China)

    2014-10-15

    Objectives: To evaluate the accuracy of multidetector computed tomography (MDCT) in assessing myocardial delayed enhancement and left ventricle wall thickness in hypertrophic cardiomyopathy (HCM) compared with cardiac magnetic resonance (CMR) as the reference standard. Materials and methods: Eighty consecutive patients (59 male; 53.2 ± 13.0 years) were examined with MDCT, followed by CMR 1 day later. Cardiac CT angiography and a delayed CT were performed. CMR was performed according to a standardized protocol. Left ventricle wall thickness and positions of myocardial delayed enhancement were identified in both CMR and CT images according to the American Heart Association left ventricle 17-segment model. Myocardial delayed enhancement was characterized as “dense” (areas with clear defined borders) or “diffuse” and then quantified using both techniques. Results: Left ventricle wall thickness determined by MDCT was significantly correlated with CMR (R = 0.88, P < 0.01). Compared with CMR, MDCT accurately diagnosed 74 of 78 (94.9%) patients and 1243 of 1326 (93.7%) segments. For dense myocardial delayed enhancement, MDCT significantly correlated with CMR (R = 0.88, P < 0.01) and slightly underestimated myocardial delayed enhancement (mean, −3.85%; lower and upper limits of agreement, −13.40% and 5.70%, respectively). Conclusions: MDCT provides reliable quantification of myocardial delayed enhancement and evaluation of left ventricle wall thickness and has a good correlation with CMR in patients with HCM when a comprehensive cardiac CT protocol is used and can be applied for intervention planning.

  9. Quantification of myocardial delayed enhancement and wall thickness in hypertrophic cardiomyopathy: Multidetector computed tomography versus magnetic resonance imaging

    International Nuclear Information System (INIS)

    Objectives: To evaluate the accuracy of multidetector computed tomography (MDCT) in assessing myocardial delayed enhancement and left ventricle wall thickness in hypertrophic cardiomyopathy (HCM) compared with cardiac magnetic resonance (CMR) as the reference standard. Materials and methods: Eighty consecutive patients (59 male; 53.2 ± 13.0 years) were examined with MDCT, followed by CMR 1 day later. Cardiac CT angiography and a delayed CT were performed. CMR was performed according to a standardized protocol. Left ventricle wall thickness and positions of myocardial delayed enhancement were identified in both CMR and CT images according to the American Heart Association left ventricle 17-segment model. Myocardial delayed enhancement was characterized as “dense” (areas with clear defined borders) or “diffuse” and then quantified using both techniques. Results: Left ventricle wall thickness determined by MDCT was significantly correlated with CMR (R = 0.88, P < 0.01). Compared with CMR, MDCT accurately diagnosed 74 of 78 (94.9%) patients and 1243 of 1326 (93.7%) segments. For dense myocardial delayed enhancement, MDCT significantly correlated with CMR (R = 0.88, P < 0.01) and slightly underestimated myocardial delayed enhancement (mean, −3.85%; lower and upper limits of agreement, −13.40% and 5.70%, respectively). Conclusions: MDCT provides reliable quantification of myocardial delayed enhancement and evaluation of left ventricle wall thickness and has a good correlation with CMR in patients with HCM when a comprehensive cardiac CT protocol is used and can be applied for intervention planning

  10. Contemporary strategies for risk stratification and prevention of sudden death with the implantable defibrillator in hypertrophic cardiomyopathy.

    Science.gov (United States)

    Maron, Barry J; Maron, Martin S

    2016-05-01

    Hypertrophic cardiomyopathy (HCM) is regarded as the most common nontraumatic cause of sudden death (SD) in young people (including trained athletes). Introduction of implantable cardioverter-defibrillators (ICD) to HCM 15 years ago represented a new paradigm for clinical practice and probably the most significant advance in management of this disease. ICDs offer protection against SD by terminating potentially lethal ventricular tachyarrhythmias (11%/year secondary and 4%/year primary prevention), although implant decisions are weighed against the possibility of device-related complications (5%/year). ICDs have altered the natural history of HCM, creating the opportunity for extended or normal longevity for many patients. However, assessing SD risk and targeting appropriate candidates for prophylactic device therapy can be compounded by unpredictability of the underlying arrhythmogenic substrate, evident by delays ≥10 years between implant and first ICD intervention. Multiple or a single strong risk marker within the clinical profile of an individual HCM patient can justify consideration for a primary-prevention ICD when combined with physician judgment and shared decision making. The role of the mathematical SD risk score proposed by the European Society of Cardiology to identify patients who benefit from ICD therapy is incompletely resolved. Contemporary treatment interventions and advanced risk stratification using ≥1 conventional markers have served the HCM patient population well, with reduced disease-related mortality rates across all age groups to <1%/year, due largely to the penetration of ICDs into HCM practice. Prevention of SD has now become an integral, albeit challenging, component of HCM management, contributing importantly to its emergence as a contemporary treatable cardiac disease. PMID:26749314

  11. Effect of Papillary Muscles and Trabeculae on Left Ventricular Measurement Using Cardiovascular Magnetic Resonance Imaging in Patients with Hypertrophic Cardiomyopathy

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    Park, Eun-Ah; Lee, Whal [Department of Radiology, Cardiovascular Division, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of); Kim, Hyung-Kwan [Department of Internal Medicine, Cardiovascular Division, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of); Chung, Jin Wook [Department of Radiology, Cardiovascular Division, Seoul National University Hospital, Seoul 110-744 (Korea, Republic of)

    2015-11-01

    To evaluate the influence of papillary muscles and trabeculae on left ventricular (LV) cardiovascular magnetic resonance (CMR) analysis using three methods of cavity delineation (classic or modified inclusion methods, and the exclusion method) in patients with hypertrophic cardiomyopathy (HCM). This retrospective study included 20 consecutive HCM patients who underwent 1.5-T CMR imaging with short-axis cine stacks of the entire LV. LV measurements were performed using three different methods of manual cavity delineation of the endocardial and epicardial contours: method A, presumed endocardial boundary as seen on short-axis cine images; method B, including solely the cavity and closely adjacent trabeculae; or method C, excluding papillary muscles and trabeculae. Ascending aorta forward flow was measured as reference for LV-stroke volume (SV). Interobserver reproducibility was assessed using intraclass correlation coefficients. Method A showed larger end-diastole and end-systole volumes (largest percentage differences of 25% and 68%, respectively, p < 0.05), compared with method C. The ejection fraction was 55.7 ± 6.9% for method A, 68.6 ± 8.4% for B, and 71.7 ± 7.0% for C (p < 0.001). Mean mass was also significantly different: 164.6 ± 47.4 g for A, 176.5 ± 50.5 g for B, and 199.6 ± 53.2 g for C (p < 0.001). LV-SV error was largest with method B (p < 0.001). No difference in interobserver agreement was observed (p > 0.05). In HCM patients, LV measurements are strikingly different dependent on whether papillary muscles and trabeculae are included or excluded. Therefore, a consistent method of LV cavity delineation may be crucial during longitudinal follow-up to avoid misinterpretation and erroneous clinical decision-making.

  12. Cardiac-specific over-expression of epidermal growth factor receptor 2 (ErbB2 induces pro-survival pathways and hypertrophic cardiomyopathy in mice.

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    Polina Sysa-Shah

    Full Text Available BACKGROUND: Emerging evidence shows that ErbB2 signaling has a critical role in cardiomyocyte physiology, based mainly on findings that blocking ErbB2 for cancer therapy is toxic to cardiac cells. However, consequences of high levels of ErbB2 activity in the heart have not been previously explored. METHODOLOGY/PRINCIPAL FINDINGS: We investigated consequences of cardiac-restricted over-expression of ErbB2 in two novel lines of transgenic mice. Both lines develop striking concentric cardiac hypertrophy, without heart failure or decreased life span. ErbB2 transgenic mice display electrocardiographic characteristics similar to those found in patients with Hypertrophic Cardiomyopathy, with susceptibility to adrenergic-induced arrhythmias. The hypertrophic hearts, which are 2-3 times larger than those of control littermates, express increased atrial natriuretic peptide and β-myosin heavy chain mRNA, consistent with a hypertrophic phenotype. Cardiomyocytes in these hearts are significantly larger than wild type cardiomyocytes, with enlarged nuclei and distinctive myocardial disarray. Interestingly, the over-expression of ErbB2 induces a concurrent up-regulation of multiple proteins associated with this signaling pathway, including EGFR, ErbB3, ErbB4, PI3K subunits p110 and p85, bcl-2 and multiple protective heat shock proteins. Additionally, ErbB2 up-regulation leads to an anti-apoptotic shift in the ratio of bcl-xS/xL in the heart. Finally, ErbB2 over-expression results in increased activation of the translation machinery involving S6, 4E-BP1 and eIF4E. The dependence of this hypertrophic phenotype on ErbB family signaling is confirmed by reduction in heart mass and cardiomyocyte size, and inactivation of pro-hypertrophic signaling in transgenic animals treated with the ErbB1/2 inhibitor, lapatinib. CONCLUSIONS/SIGNIFICANCE: These studies are the first to demonstrate that increased ErbB2 over-expression in the heart can activate protective signaling

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

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    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

  14. Systematic review of pregnancy in women with inherited cardiomyopathies

    NARCIS (Netherlands)

    Krul, Sebastien P. J.; van der Smagt, Jasper J.; van den Berg, Maarten P.; Sollie, Krystyna M.; Pieper, Petronella G.; van Spaendonck-Zwarts, Karin Y.

    2011-01-01

    Pregnancy exposes women with inherited cardiomyopathies to increased risk for heart failure and arrhythmias. In this paper, we review the clinical course and management of pregnant women with the following inherited cardiomyopathies: hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogeni

  15. 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

  16. Usefulness of noninvasive detection of left ventricular diastolic abnormalities during isometric stress in hypertrophic cardiomyopathy and in athletes.

    Science.gov (United States)

    Manolas, J; Kyriakidis, M; Anastasakis, A; Pegas, P; Rigopoulos, A; Theopistou, A; Toutouzas, P

    1998-02-01

    We showed previously that the handgrip apexcardiographic test (HAT) is a useful method for detecting left ventricular (LV) diastolic abnormalities in patients with coronary artery disease and systemic hypertension. This study evaluates the use of HAT for assessing the prevalence and types of exercise-induced diastolic abnormalities in patients with obstructive (n = 31) and nonobstructive (n = 35) hypertrophic cardiomyopathy (HC) as well as its potential value for separating healthy subjects and athletes from patients with HC. We obtained a HAT in 66 consecutive patients with HC and in 72 controls (52 healthy volunteers and 20 athletes). A positive HAT was defined by the presence of one of the following: (1) relative A wave to total height (A/H) during or after handgrip > 21% (compliance type), (2) total apexcardiographic relaxation time (TART) > 143 ms or the heart rate corrected TART (TARTI) during handgrip < 0.14, (relaxation type), (3) both types present (mixed type), and (4) diastolic amplitude time index (DATI = TARTI/[A/D]) during handgrip < 0.27. Of the controls, only 1 of 52 healthy subjects and 1 of 20 athletes showed a positive HAT, whereas of the total HC cohort 63 of 66 patients (95%) had a positive result. There was no significant difference in the distribution of these types between obstructive and nonobstructive HC. Further, no LV diastolic abnormalities were present in 10 of 35 patients (29%) with nonobstructive HC at rest and in 3 of 35 patients (9%) during handgrip, whereas of the patients with obstructive HC only 1 of 31 (3%) had no LV diastolic abnormalities at rest and none during handgrip. Based on HAT data, our study demonstrates that in HC (1) LV diastolic abnormalities are very frequent during handgrip; (2) patients with nonobstructive HC show significantly fewer LV diastolic abnormalities at rest than those with obstructive HC; and (3) no significant difference exists between obstructive and nonobstructive HC in the prevalence of types of

  17. Feline hypertrophic cardiomyopathy: an echocardiographic approach Cardiomiopatía hipertrófica felina: enfoque ecocardiográfico

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    AC Silva

    2013-01-01

    Full Text Available Feline hypertrophic cardiomyopathy is a primary myocardial disease. Feline HCM is a disease of the ventricular myocardium characterised by mild-to-severe primary concentric hypertrophy. The disease has been attributed to hereditary factors in certain breeds and causal mutations have been discovered in the Maine coon and ragdoll breeds. However, the disease is still a challenge for clinicians because of the difficulty of early diagnosis and the risk of the sudden death of the afflicted animals. Echocardiography is the non-invasive tool of choice for the diagnosis of cardiac diseases in cats. New echocardiographic techniques such as tissue Doppler imaging (2-dimensional colour, colour M-mode, pulsed-wave mode, strain, and strain rate have proven to be effective in the early diagnosis of myocardial dysfunction, even in the absence of hypertrophy in conventional echocardiography. The aim of this review is to provide an update on information regarding the echocardiographic diagnosis of the disease.La cardiomiopatía hipertrófica felina es una enfermedad primaria del miocardio que se caracteriza por una leve a severa hipertrofia concéntrica primaria del miocardio ventricular. Los factores hereditarios y mutaciones causales se han atribuido al desarrollo de la enfermedad en algunas razas, como los gatos Maine Coon y Ragdoll. Sin embargo, esta enfermedad sigue siendo un reto para los veterinarios debido a la dificultad del diagnóstico precoz y el riesgo de muerte súbita de los animales afectados. La ecocardiografía es una herramienta no invasiva de elección para el diagnóstico de las enfermedades cardíacas en los gatos. Nuevas técnicas ecocardiográficas como el Doppler Tesidual (el color bidimensional, el modo M a color y el modo de onda pulsada, Strain y Strain rate, han demostrado ser eficaces en el diagnóstico temprano de la disfunción del miocardio, incluso en ausencia de hipertrofia en el examen ecocardiográfico convencional. Esta

  18. Mitochondrial targeting of human NADH dehydrogenase (ubiquinone flavoprotein 2 (NDUFV2 and its association with early-onset hypertrophic cardiomyopathy and encephalopathy

    Directory of Open Access Journals (Sweden)

    Kao Mou-Chieh

    2011-05-01

    Full Text Available Abstract Background NADH dehydrogenase (ubiquinone flavoprotein 2 (NDUFV2, containing one iron sulfur cluster ([2Fe-2S] binuclear cluster N1a, is one of the core nuclear-encoded subunits existing in human mitochondrial complex I. Defects in this subunit have been associated with Parkinson's disease, Alzheimer's disease, Bipolar disorder, and Schizophrenia. The aim of this study is to examine the mitochondrial targeting of NDUFV2 and dissect the pathogenetic mechanism of one human deletion mutation present in patients with early-onset hypertrophic cardiomyopathy and encephalopathy. Methods A series of deletion and point-mutated constructs with the c-myc epitope tag were generated to identify the location and sequence features of mitochondrial targeting sequence for NDUFV2 in human cells using the confocal microscopy. In addition, various lengths of the NDUFV2 N-terminal and C-terminal fragments were fused with enhanced green fluorescent protein to investigate the minimal region required for correct mitochondrial import. Finally, a deletion construct that mimicked the IVS2+5_+8delGTAA mutation in NDUFV2 gene and would eventually produce a shortened NDUFV2 lacking 19-40 residues was generated to explore the connection between human gene mutation and disease. Results We identified that the cleavage site of NDUFV2 was located around amino acid 32 of the precursor protein, and the first 22 residues of NDUFV2 were enough to function as an efficient mitochondrial targeting sequence to carry the passenger protein into mitochondria. A site-directed mutagenesis study showed that none of the single-point mutations derived from basic, hydroxylated and hydrophobic residues in the NDUFV2 presequence had a significant effect on mitochondrial targeting, while increasing number of mutations in basic and hydrophobic residues gradually decreased the mitochondrial import efficacy of the protein. The deletion mutant mimicking the human early-onset hypertrophic

  19. [Mitral Valve Replacement with a Low-Profile Bioprosthesis in Combination with Septal Myectomy for Hypertrophic Obstructive Cardiomyopathy;Report of a Case].

    Science.gov (United States)

    Furukawa, Koji; Sakaguchi, Shuhei; Nakamura, Eisaku; Yano, Mitsuhiro

    2015-06-01

    An 83-year-old woman diagnosed with hypertrophic obstructive cardiomyopathy was referred to our hospital. Her echocardiogram revealed diffuse left ventricular hypertrophy, severe mitral valve regurgitation with systolic anterior motion of the mitral valve, and left ventricular obstruction with a peak outflow gradient of 142 mmHg. Cardiac catheterization revealed a peak pressure gradient of 60 mmHg across the left ventricular outflow tract. Because of the patient's advanced age, as well as uncertainty regarding our ability to resolve her mitral regurgitation, we performed mitral valve replacement with a St. Jude Medical Epic porcine low-profile bioprosthesis in combination with septal myectomy. The patient's postoperative course was uneventful. At 1 year after the operation, her functional status was New York Heart Association class I. The echocardiogram showed the peak outflow gradient markedly decreased to 9 mmHg. PMID:26066877

  20. Implante de cardio-desfibrilador em gestantes com cardiomiopatia hipertrófica Implantable cardioverter-defibrillator in pregnant women with hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Leonardo Jorge Cordeiro de Paula

    2010-09-01

    Full Text Available Descrevemos os casos de duas gestantes portadoras de cardiomiopatia hipertrófica com alto risco de morte súbita arrítmica, que foram submetidas a implante de cardioversor-desfibrilador automático (CDI no intercurso da gestação. O momento para a realização do procedimento e os cuidados necessários para o implante do CDI durante a gestação são discutidos e foram os principais objetivos deste relato.We describe the successful implantation of a cardioverter-defibrillator (ICD in two pregnant women with hypertrophic cardiomyopathy at high risk. The indication of ICD and the necessary care for ICD implantation during pregnancy are discussed and were the main objectives of this case report.

  1. 肥厚型梗阻性心肌病患者行髋关节置换术的麻醉处理%Anesthetic management of a patient with hypertrophic obstructive cardiomyopathy for hip joint replacement Introduction

    Institute of Scientific and Technical Information of China (English)

    刘秀芬; 王东信

    2011-01-01

    IntroductionHypertrophic cardiomyopathy(HCM)is not an uncommon cardiac disease now,it was reported that the prevalence of HCM is 0.18%in Chinese at present[ 1].Hypertrophic obstructive carchomyopathy(HOCM)is a subset of HCM with left ventricular outilow tract(LVOT)obstruction.Majority of case repofls have focused on anesthetic management of HOCM in children and parturients,eithercombined spinal and epidural(CSE)or general anesthesia selected.%@@ Hypertrophic cardiomyopathy (HCM) is not an uncommon cardiac disease now,it was reported that the prevalence of HCM is 0.18% in Chinese at present .Hypertrophic obstructive cardiomyopathy ( HOCM) is a subset of HCM with left ventricular outflow tract ( LVOT) obstruction.Majority of case reports have focused on anesthetic management of HOCM in children and parturients, either combined spinal and epidural (CSE) or general anesthesia selected.But there were existing debates about anesthetic methods used, some authors regarded spinal or epidural anesthesia as contraindicated for the sake of lowering afterload, some authors believed that the serious problems could occur during general anesthesia.

  2. Pregnancy, cardiomyopathies, and genetics

    NARCIS (Netherlands)

    Van Tintelen, J. Peter; Pieper, Petronella G.; Van Spaendonck-Zwarts, Karin Y.; Van den Berg, Maarten P.

    2014-01-01

    Although familial forms of cardiomyopathy such as hypertrophic or dilated cardiomyopathy have been recognized for decades, it is only recently that much of the genetic basis of these inherited cardiomyopathies has been elucidated. This has provided important insights into the pathophysiological mech

  3. 肥厚型心肌病患者的心电图改变%Changes of ECG in patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    马志玲(综述); 邵虹(审校)

    2014-01-01

    肥厚型心肌病的病理改变主要以心室肌肥厚为特征,并且还会影响到左心室以及室间隔,很多是非对称性左室肥厚。该病的心电图异常率和患者有无症状、室间隔肥厚程度密切相关。而ST-T异常是肥厚型心肌病较常见的心电图表现之一。本文主要对肥厚型心肌病,尤其是心尖肥厚型心肌病的心电图改变现象进行综述。%Thepathologicalchangeofhypertrophiccardiomyopathy(HCM)ismainlycharacter-ized by ventricular hypertrophy which has an impact on left ventricle and interventricular septum, with a majority of asymmetric left ventricular hypertrophy.As far as the disease is concerned,the abnormal rate of ECG is closely related to whether the patient has a symptom and the hypertrophic degree of interventricular septum.However,the abnormality of ST-T interval is one of the usual ECG representations for patients with HCM.This paper mainly reviews the ECG changes of HCM , especially those of apical hypertrophic cardiomyopathy.

  4. Significant reduction of left atrial volume concomitant with clinical improvement after percutaneous transluminal septal myocardial ablation for drug-refractory hypertrophic obstructive cardiomyopathy, and its precise detection with multidetector CT

    OpenAIRE

    Maekawa, Yuichiro; Akita, Keitaro; Tsuruta, Hikaru; Yamada, Yoshitake; Hayashida, Kentaro; Yuasa, Shinsuke; Murata, Mitsushige; Jinzaki, Masahiro; Fukuda, Keiichi

    2016-01-01

    Objective In patients with hypertrophic obstructive cardiomyopathy (HOCM), left atrial (LA) volume measurement is very important to provide prognostic information. Recent studies demonstrated that multidetector CT (MDCT) is useful to assess the changes in LA volume. Our aim was to examine the utility of a follow-up cardiac MDCT for long-term evaluation of the effect of percutaneous transluminal septal myocardial ablation (PTSMA) on LA volume. Methods We studied a consecutive cohort of 20 pati...

  5. A Fetus with Hypertrophic Cardiomyopathy, Restrictive and Single Ventricle Physiology, and a β-Myosin Heavy Chain Mutation

    OpenAIRE

    Hinton,Robert B; Michelfelder, Erik C.; Bradley S. Marino; Bove, Kevin E; Ware, Stephanie M.

    2010-01-01

    Cardiomyopathy is a significant clinical problem associated with sudden death. A molecular taxonomy is emerging that is refining the clinical classification system. We describe a patient with a pathogenic familial β-myosin heavy chain mutation who was prenatally diagnosed with left ventricular hypoplasia and restrictive diastolic physiology.

  6. Alcohol septal ablation and hypertrophic cardiomyopathy%酒精室间隔消融术与肥厚型心肌病

    Institute of Scientific and Technical Information of China (English)

    Carey Kimmelstiel; Barath Krishnamurthy; Andrew Weintraub; Navin Kapur; 王新国

    2009-01-01

    Patients with hypertrophic cardiomyopathy who experience refractory symptoms due to left ventricular outflow tract obstruction are often referred for definitive therapy consisting of either surgical myectomy or alcohol septal ablation ( ASA). There currently exists clinical equipoise regarding which therapy is the most efficacious in this challenging patient population. ASA utilizes common interventional techniques usually employed to treat atherosclerotic coronary artery disease to inject small aliquots of ethanol into a branch of the appropriate septal vessel to cause necrosis of the obstructing basal septal tissue. Myocardial contrast echocardiography is used to facilitate location of the most appropriate septal branch with success determined by an acute reduction in the resting and/or provoked gradient. Recent comparative data have suggested similar rates of long and short-term mortality in when comparing patients undergoing ASA and surgical myectomy, with ASA patients experiencing a higher rate of requirement for permanent pacemakers. In addition, patients treated by both techniques appear to have similar gradient reductions and improvement in symptomatic status. Comparisons of these two methods of treatment are limited by the non-randomized nature of the studies, retrospective data collection and the allocation of higher-risk patients to ASA treatment. Concern for the wide-spread adoption of ASA to drug-resistant HCM patients is warranted due to the potential for arrhythmogenesis is a patient population already at risk for life-threatening arrhythmias. There have been case reports of such arrhythmias, however, clinical series to date have not suggested an enhanced risk of sudden cardiac death in patients treated with ASA. Definitive answers concerning which patient subsets with drug-refractory hypertrophic cardiomyopathy would benefit from the two competing therapies can only be answered by a randomized clinical trial. However, for a variety of clinical and

  7. Sex differences in cardiomyopathies

    NARCIS (Netherlands)

    Meyer, Sven; van der Meer, Peter; van Tintelen, J. Peter; van den Berg, Maarten P.

    2014-01-01

    Cardiomyopathies are a heterogeneous group of heart muscle diseases with a variety of specific phenotypes. According to the contemporary European Society of Cardiology classification, they are classified into hypertrophic (HCM), dilated (DCM), arrhythmogenic right ventricular (ARVC), restrictive (RC

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

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    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.

  9. Systolic and diastolic myocardial mechanics in hypertrophic cardiomyopathy and their link to the extent of hypertrophy, replacement fibrosis and interstitial fibrosis.

    Science.gov (United States)

    Nucifora, Gaetano; Muser, Daniele; Gianfagna, Pasquale; Morocutti, Giorgio; Proclemer, Alessandro

    2015-12-01

    Aim of the present study was to investigate the relations between myocardial mechanics and the extent of hypertrophy and fibrosis in hypertrophic cardiomyopathy (HCM). Forty-five consecutive patients with HCM and 15 subjects without structural heart disease were included. Cardiac magnetic resonance with late gadolinium enhancement (LGE) imaging was performed to evaluate biventricular function, LV mass index and presence/extent of LGE, expression of replacement fibrosis. Myocardial T1 relaxation, a surrogate of interstitial fibrosis, was measured from Look-Locker sequence. Feature-tracking analysis was applied to LV basal, mid and apical short-axis images to assess systolic and diastolic global LV circumferential strain (CS) and strain rate (CSr). Peak systolic CS and CSr were significantly higher among HCM patients as compared to control subjects (p = 0.015 and p = 0.007, respectively). The ratio of peak CSr during early filling to peak systolic CSr was significantly lower among HCM patients (p = 0.002). At multivariate linear regression analysis, LV mass index (p mechanics are enhanced and LV diastolic mechanics are impaired in HCM. Extent of hypertrophy and replacement fibrosis influence the LV systolic mechanics while extent of replacement fibrosis and interstitial fibrosis influence the LV diastolic mechanics.

  10. A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

    Science.gov (United States)

    Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Beatrice Maria; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana

    2016-01-01

    Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation Sequencing (NGS) may fulfil the molecular diagnostic needs in HCM, we included 17 HCM-related genes in a sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) and 35 with late (≥65 years) diagnosis of disease onset. All samples had a 98.6% average of target regions, with coverage higher than 20× (mean coverage 620×). We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22.9%) in late-onset HCM patients, respectively (p NGS revealed higher mutations yield in patients with early onset and with a family history of HCM. Appropriate patient selection can increase the yield of genetic testing and make diagnostic testing cost-effective. PMID:27483260

  11. How Hypertrophic Cardiomyopathy Became a Contemporary Treatable Genetic Disease With Low Mortality: Shaped by 50 Years of Clinical Research and Practice.

    Science.gov (United States)

    Maron, Barry J; Rowin, Ethan J; Casey, Susan A; Maron, Martin S

    2016-04-01

    Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease encumbered throughout much of its almost 60-year history by a large measure of misunderstanding and the perception of a grim outcome without effective treatment options. However, it is now apparent that the majority of patients affected with HCM can achieve normal or near-normal life expectancy without disability, and usually do not require major treatment interventions. Nevertheless, for those patients with HCM who are at risk for (or experience) disease-related complications, a constellation of comprehensive nonpharmacologic management strategies have evolved over the last 15 years, altering the natural history and disease course for many, including implantable defibrillators, heart transplant, external defibrillation/therapeutic hypothermia, advances in surgical myectomy, and alcohol ablation. In particular, expanded contemporary risk stratification strategies have led to a more reliable selection of patients likely to achieve primary prevention of sudden death with implantable defibrillators. Most recently, large cohort studies using current management strategies and therapeutic measures have shown that it is now possible to achieve significantly improved survival with a low HCM-related mortality of 0.5% per year across all ages, and including children and young adults characteristically with the most aggressive disease course. These clinical management initiatives, instituted by the practicing cardiology community, have succeeded in preserving life and restoring an active lifestyle for thousands of patients with HCM, while providing many with a measure of reassurance and a reasonable expectation for an extended (if not normal) life span. PMID:27437663

  12. 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)

  13. Assessment of myocardial fibrosis and coronary arteries in hypertrophic cardiomyopathy using combined arterial and delayed enhanced CT: comparison with MR and coronary angiography

    Energy Technology Data Exchange (ETDEWEB)

    Zhao, Lei; Ma, Xiaohai; Zhang, Chen; Liu, Yi; Zhang, Zhaoqi [Capital Medical University, Department of Radiology, Beijing Anzhen Hospital, Beijing (China); DeLano, Mark C. [Michigan State University, Division of Radiology and Biomedical Imaging, College of Human Medicine, Lancing, MI (United States); Jiang, Tengyong [Capital Medical University, Department of Cardiology, Beijing Anzhen Hospital, Beijing (China)

    2013-04-15

    We sought to determine the feasibility and accuracy of dual-source computed tomography (DSCT) in assessing coronary artery disease and myocardial fibrosis of hypertrophic cardiomyopathy (HCM) compared with cardiac magnetic resonance (CMR) imaging and coronary angiography (CA). Forty-seven consecutive patients with HCM were prospectively enrolled. DSCT images were acquired in the arterial and late phases following intravenous contrast medium. The CMR and CA were performed within 7 days. Independent blinded readers read each study. Patients were classified according to myocardial delayed enhanced (MDE) CMR, coronary artery stenosis by CA, and arterial and MDE-DSCT. The diagnostic accuracy of DSCT in detecting coronary stenosis and MDE was analysed. Wall thickness determined by DSCT was strongly correlated with MR results (r = 0.91). DSCT and CMR MDE showed substantial agreement for the detection of myocardial fibrosis on per-patient and per-segment levels. The CT classification of patients by arterial stenosis and delayed enhancement had excellent agreement with MR and CA methods. The comprehensive cardiac CT examination provides reliable coronary artery and myocardial assessments. MDE-DSCT is a robust alternative method to MDE-CMR in assessing myocardial fibrosis in HCM particularly in patients with pacemakers or other contraindications to CMR. (orig.)

  14. An explicitly solvated full atomistic model of the cardiac thin filament and application on the calcium binding affinity effects from familial hypertrophic cardiomyopathy linked mutations

    Science.gov (United States)

    Williams, Michael; Schwartz, Steven

    2015-03-01

    The previous version of our cardiac thin filament (CTF) model consisted of the troponin complex (cTn), two coiled-coil dimers of tropomyosin (Tm), and 29 actin units. We now present the newest revision of the model to include explicit solvation. The model was developed to continue our study of genetic mutations in the CTF proteins which are linked to familial hypertrophic cardiomyopathies. Binding of calcium to the cTnC subunit causes subtle conformational changes to propagate through the cTnC to the cTnI subunit which then detaches from actin. Conformational changes propagate through to the cTnT subunit, which allows Tm to move into the open position along actin, leading to muscle contraction. Calcium disassociation allows for the reverse to occur, which results in muscle relaxation. The inclusion of explicit TIP3 water solvation allows for the model to get better individual local solvent to protein interactions; which are important when observing the N-lobe calcium binding pocket of the cTnC. We are able to compare in silica and in vitro experimental results to better understand the physiological effects from mutants, such as the R92L/W and F110V/I of the cTnT, on the calcium binding affinity compared to the wild type.

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

    Energy Technology Data Exchange (ETDEWEB)

    Amano, Yasuo; Fukushima, Yoshimitsu; Kumita, Shinichiro (Dept. of Radiology, Nippon Medical School, Tokyo (Japan)), email: yas-amano@nifty.com; Takayama, Morimasa (Dept. of Cardiology, Sakakibara Heart Inst., Tokyo (Japan)); Kitamura, Mitsunobu (Coronary Care Unit, Chiba-Hokuso Hospital of Nippon Medical School, Chiba (Japan))

    2011-07-15

    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

  16. Comparison of left ventricular diastolic function in obstructive hypertrophic cardiomyopathy in patients undergoing percutaneous septal alcohol ablation versus surgical myotomy/myectomy

    Science.gov (United States)

    Sitges, Marta; Shiota, Takahiro; Lever, Harry M.; Qin, Jian Xin; Bauer, Fabrice; Drinko, Jeannie K.; Agler, Deborah A.; Martin, Maureen G.; Greenberg, Neil L.; Smedira, Nicholas G.; Lytle, Bruce W.; Tuzcu, E. Murat; Garcia, Mario J.; Thomas, James D.

    2003-01-01

    Both percutaneous transcoronary alcohol septal reduction (ASR) and surgical myectomy are effective treatments to relieve left ventricular (LV) outflow tract obstruction in obstructive hypertrophic cardiomyopathy (HC). LV diastolic function was assessed by echocardiography in 57 patients with obstructive HC at baseline and 5 +/- 4 months after ASR (n = 37) or surgical myectomy (n = 20). LV outflow tract pressure gradient decreased from 65 +/- 40 to 23 +/- 21 mm Hg (p treatment. The ratio of the early-to-late peak diastolic LV inflow velocities, and the ratio of the early peak diastolic LV inflow velocity to the lateral mitral annulus early diastolic velocity determined by tissue Doppler imaging significantly decreased after the procedures (1.6 +/- 1.7 vs 1.0 +/- 0.7 and 15 +/- 8 vs 11 +/- 5, respectively), whereas LV inflow propagation velocity significantly increased (60 +/- 24 vs 71 +/- 36 cm/s). Left atrial size decreased from 29 +/- 7 to 25 +/- 6 cm(2) (p <0.05). Patients had a significant improvement in New York Heart Association functional class and in exercise performance. When comparing ASR with myectomy, no difference was found in the degree of change in any parameter of diastolic function. Thus, diastolic function indexes obtained by echocardiography changed after septal reduction interventions in patients with obstructive HC; this change was similar to that after surgical myectomy and ASR.

  17. Genotype-phenotype correlation between the cardiac myosin binding protein C mutation A31P and hypertrophic cardiomyopathy in a cohort of Maine Coon cats: a longitudinal study

    DEFF Research Database (Denmark)

    Granstroem, S.; Godiksen, M. T. N.; Christiansen, M.;

    2015-01-01

    tissue Doppler imaging and occurrence of cardiac death during longitudinal follow-up in a cohort of Maine Coon cats. ANIMALS: The original cohort comprised 282 cats (158 of wild-type genotype, 99 heterozygous for A31P and 25 homozygous for A31P). METHODS: Prospective longitudinal study including......OBJECTIVES: A missense mutation (A31P) in the cardiac myosin binding protein C gene has been associated with hypertrophic cardiomyopathy (HCM) in Maine Coon cats. The aim of this study was to investigate the effect of A31P on development of HCM, myocardial diastolic dysfunction detected by color.......7 years an additional 6.7% (11/165) of the cats developed HCM. Survival data could be obtained for 262 of the cats originally included, and among these 9.2% (24/262) died of causes that met the study criteria for cardiac death. In the homozygous group 80% (20/25) of cats included were diagnosed with HCM...

  18. The Huntington's disease-related cardiomyopathy prevents a hypertrophic response in the R6/2 mouse model.

    Directory of Open Access Journals (Sweden)

    Michal Mielcarek

    Full Text Available Huntington's disease (HD is neurodegenerative disorder for which the mutation results in an extra-long tract of glutamines that causes the huntingtin protein to aggregate. It is characterized by neurological symptoms and brain pathology that is associated with nuclear and cytoplasmic aggregates and with transcriptional deregulation. Despite the fact that HD has been recognized principally as a neurological disease, there are multiple epidemiological studies showing that HD patients exhibit a high rate of cardiovascular events leading to heart failure. To unravel the mechanistic basis of cardiac dysfunction in HD, we employed a wide range of molecular techniques using the well-established genetic R6/2 mouse model that develop a considerable degree of the cardiac atrophy at end stage disease. We found that chronic treatment with isoproterenol, a potent beta-adrenoreceptor agonist, did not change the overall gross morphology of the HD murine hearts. However, there was a partial response to the beta-adrenergenic stimulation by the further re-expression of foetal genes. In addition we have profiled the expression level of Hdacs in the R6/2 murine hearts and found that the isoproterenol stimulation of Hdac expression was partially blocked. For the first time we established the Hdac transcriptional profile under hypertrophic conditions and found 10 out of 18 Hdacs to be markedly deregulated. Therefore, we conclude that R6/2 murine hearts are not able to respond to the chronic isoproterenol treatment to the same degree as wild type hearts and some of the hypertrophic signals are likely attenuated in the symptomatic HD animals.

  19. 肥厚性心肌病和缺血性心脏病患者多巴酚丁胺负荷试验比较%Dobutamine stress echocardiocardiography in patients with hypertrophic cardiomyopathy and ischemic heart disease

    Institute of Scientific and Technical Information of China (English)

    周清华

    2009-01-01

    目的 观察肥厚性心肌病患者多巴酚丁胺负荷超声心动图试验中的左心室流出道压差、左心室射血和充盈功能及长轴心室壁运动变化,并与缺血性心脏病患者进行对比.方法 对19例正常人、21例肥厚性心肌病患者、18例缺血性心脏病患者进行负荷多普勒超声心动图试验,采用连续波和脉冲波多普勒及M-型超声心动图观察左心室流出道、左心室射血和充盈及长轴运动功能.结果 正常人、肥厚性心肌病和缺血性心脏病患者心率负荷后明显上升.肥厚性心肌病患者左心室流出道压差明显上升,缺血性心脏病患者则无此变化.肥厚性心肌病患者和缺血性心脏病患者每分钟左心室总射血时间增加.正常人、肥厚性心肌病及缺血性心脏病患者每分钟左心室总充盈时间无明显变化.肥厚性心肌病和缺血性心脏病患者高剂量时长轴运动明显抑制,与正常人比较,差异有统计学意义(P<0.01).结论 肥厚性心肌病和缺血性心脏病患者左心室总射血时间依赖于心率,而左心室总充盈时间则与心率无关,负荷后2组患者长轴运动受抑制.多巴酚丁胺负荷超声心动图试验有助于临床对肥厚性心肌病动力性左心室流出道梗阻的诊断.%Objective To investigate the effect of dobutamine stress test on left outflow tract gradients, left ventricular systolic and diastolic function as well as long axis function in patients with hypertrophic cardiomyopathy and ischemic heart disease. Methods Prespective analysis of 12 ECG and echocardiogram at rest and at peak stress in 21 patients with hypertrophic cardiomyopathy and 18 patients with isehemic heart disease was done. During dobutmine stress doppler echecardiography, heart rate and eft ventricular ejection and falling time were recorded. Long axis motion was derived from the M-Mode echocardiogram. Results Heart rate significant increased during dobutamine stress in three

  20. ECG features of 30 patients with apical hypertrophic cardiomyopathy%30例心尖肥厚型心肌病心电图特征分析

    Institute of Scientific and Technical Information of China (English)

    李影; 张延斌; 罗园媛; 徐通达; 朱红; 李文华; 李东野

    2012-01-01

    目的 探讨心尖肥厚型心肌病(AHCM)的心电图(ECG)特征.方法 分析30例AHCM患者和30例正常人的ECG资料,比较T波、ST段及R波的变化.结果 30例患者均合并ECG异常改变(100%),胸导联V3、V4、V5巨大倒置T波最明显,大多伴有ST段下移和胸导联QRS波群高电压.ST段下移程度与倒置T波深度呈正相关(r=0.40,P<0.05).结论 胸导联R波振幅增高合并巨大倒置T波是AHCM的特征性ECG变化.%Objective To investigate electrocardiographic characteristics of apical hypertrophic cardiomyopathy(AHCM). Methods The ECG data of 30 AHCM patients and 30 normal persons were retrospectively reviewed and the changes of T wave ST-segment and R wave were analyzed. Results Abnormal ECG changes were seen in all cases with AHCM. The giant negative T wave, especially on V3,V4 and V5 leads, ST-segment depression and high QRS voltage in precordial leads were found almost in all AHCM cases. There was significant correlation between changes of ST-segment depression and amplitude of negative T wave (r=0. 40, P<0. 05). Conclusion Giant negative T wave and elevated R wave amplitude on precordial leads are the ECG characteristics of AHCM.

  1. Short-term beat-to-beat variability of the QT interval is increased and correlates with parameters of left ventricular hypertrophy in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Orosz, Andrea; Baczkó, István; Nagy, Viktória; Gavallér, Henriette; Csanády, Miklós; Forster, Tamás; Papp, Julius Gy; Varró, András; Lengyel, Csaba; Sepp, Róbert

    2015-09-01

    Stratification models for the prediction of sudden cardiac death (SCD) are inappropriate in patients with hypertrophic cardiomyopathy (HCM). We investigated conventional electrocardiogram (ECG) repolarization parameters and the beat-to-beat short-term QT interval variability (QT-STV), a new parameter of proarrhythmic risk, in 37 patients with HCM (21 males, average age 48 ± 15 years). Resting ECGs were recorded for 5 min and the frequency corrected QT interval (QTc), QT dispersion (QTd), beat-to-beat short-term variability of QT interval (QT-STV), and the duration of terminal part of T waves (Tpeak-Tend) were calculated. While all repolarization parameters were significantly increased in patients with HCM compared with the controls (QTc, 488 ± 61 vs. 434 ± 23 ms, p < 0.0001; QT-STV, 4.5 ± 2 vs. 3.2 ± 1 ms, p = 0.0002; Tpeak-Tend duration, 107 ± 27 vs. 91 ± 10 ms, p = 0.0015; QTd, 47 ± 17 vs. 34 ± 9 ms, p = 0.0002), QT-STV had the highest relative increase (+41%). QT-STV also showed the best correlation with indices of left ventricular (LV) hypertrophy, i.e., maximal LV wall thickness normalized for body surface area (BSA; r = 0.461, p = 0.004) or LV mass (determined by cardiac magnetic resonance imaging) normalized for BSA (r = 0.455, p = 0.015). In summary, beat-to-beat QT-STV showed the most marked increase in patients with HCM and may represent a novel marker that merits further testing for increased SCD risk in HCM. PMID:26313025

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

    Energy Technology Data Exchange (ETDEWEB)

    Mishiro, Yuichiro; Oki, Takashi [Tokushima Univ. (Japan). School of Medicine; Iuchi, Arata [and others

    1999-06-01

    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 ({Delta}T) 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 {Delta}T was significantly shorter for all 4 walls, particularly the anterior and ventricular septal regions. The standard deviation for the {Delta}T, calculated from the {Delta}T 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)

  3. A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

    Science.gov (United States)

    Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Beatrice Maria; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana

    2016-01-01

    Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation Sequencing (NGS) may fulfil the molecular diagnostic needs in HCM, we included 17 HCM-related genes in a sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) and 35 with late (≥65 years) diagnosis of disease onset. All samples had a 98.6% average of target regions, with coverage higher than 20× (mean coverage 620×). We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22.9%) in late-onset HCM patients, respectively (p < 0.0001). The overall detection rate for patients with positive family history was 84%, and 90.5% in patients with early disease onset. In our study NGS revealed higher mutations yield in patients with early onset and with a family history of HCM. Appropriate patient selection can increase the yield of genetic testing and make diagnostic testing cost-effective. PMID:27483260

  4. Differences in global and regional left ventricular myocardial mechanics in various morphologic subtypes of patients with obstructive hypertrophic cardiomyopathy referred for ventricular septal myotomy/myectomy.

    Science.gov (United States)

    Kobayashi, Taisei; Dhillon, Ashwat; Popovic, Zoran; Bhonsale, Aditya; Smedira, Nicholas G; Thamilarasan, Maran; Lytle, Bruce W; Lever, Harry M; Desai, Milind Y

    2014-06-01

    Patients with obstructive hypertrophic cardiomyopathy (HC) have various left ventricular (LV) shapes: reverse septal curvature (RSC, commonly familial), sigmoid septum (SS, common in hypertensives), and concentric hypertrophy (CH). Longitudinal (systolic and early diastolic) strain rate (SR) is sensitive in detecting regional myocardial dysfunction. We sought to determine differences in longitudinal SR of patients with obstructive HC, based on LV shapes. We studied 199 consecutive patients with HC (50% men) referred for surgical myectomy. Clinical and echocardiographic parameters were recorded. LV shapes were classified on echocardiography, using basal septal 1/3 to posterior wall ratio: RSC = ratio >1.3 (extending to mid and distal septum), SS = ratio >1.3 (extending only to basal 1/3), and concentric = ratio ≤1.3. Longitudinal systolic and early diastolic SRs were measured from apical 4- and 2-chamber views (VVI 2.0; Siemens, Erlangen). Distribution of RSC, SS, and CH was 50%, 28%, and 22%, respectively. Patients with RSC were significantly younger (47 ± 12 vs 64 ± 10 and 57 ± 11, respectively) with lower hypertension (40% vs 71% and 67%, respectively) than patients with SS or CH (both p RSC had lower global systolic (-0.99 ± 0.3 vs -1.05 ± 0.3 and -1.17 ± 0.3) and early diastolic SR (0.95 ± 0.4 vs 0.98 ± 0.3 and 1.16 ± 0.4) versus patients with SS and CH (in 1/s, both p RSC was associated with abnormal global LV systolic (beta 0.16) and early diastolic (beta -0.17) SR (both p <0.01). In conclusion, patients with HC with RCS have significantly abnormal LV mechanics, despite being younger and less hypertensive. A combination of LV mechanics and shapes could help differentiate between genetically mediated and other causes of obstructive HC.

  5. Impact of incidental amyloidosis on the prognosis of patients with hypertrophic cardiomyopathy undergoing septal myectomy for left ventricular outflow tract obstruction.

    Science.gov (United States)

    Helder, Meghana R K; Schaff, Hartzell V; Nishimura, Rick A; Gersh, Bernard J; Dearani, Joseph A; Ommen, Steve R; Mereuta, Oana M; Theis, Jason D; Dogan, Ahmet; Edwards, William D

    2014-11-01

    To determine the impact of amyloid on the prognosis of patients with hypertrophic cardiomyopathy (HC), we reviewed outcomes of patients who underwent septal myectomy for HC from March 7, 1996, to October 9, 2012, with amyloid deposits identified in operative specimens. Amyloid subtypes were differentiated by mass spectrometry-based proteomics. The survival rate was compared with that of an age-matched population (2:1) without amyloid who underwent septal myectomy for HC. Sixteen patients (mean age ± SD 71 ± 8 years; 12 men) met study criteria. All 16 had intraventricular peak systolic gradients reduced intraoperatively from 105 ± 53 mm Hg to 3 ± 7 mm Hg (p Amyloid deposits in specimens ranged from minimal to mild. Nine patients had senile (transthyretin-type) amyloidosis, 4 had immunoglobulin-associated amyloidosis, 2 had apolipoprotein A4 amyloidosis type, and 1 had serum amyloid A type. There were no deaths before 30 days. Twelve patients had New York Heart Association class III or IV function preoperatively, and at last follow-up (median 3 years), class I or II. Only 1 patient received postoperative amyloidosis treatment. The postoperative survival rate at 2 and 4 years was 100% (n = 11 at risk) and 91% (n = 6 at risk), respectively, similar to that of the age-matched population with HC without amyloid who underwent myectomy (p = 0.13). Patients undergoing septal myectomy for HC who have histologic evidence of mild amyloidosis have early outcomes and midterm survival similar to those of patients with HC without amyloidosis who undergo myectomy. In conclusion, although longer follow-up is necessary, small amounts of amyloid, regardless of subtype, do not confer a poor prognosis on patients with HC who undergo septal myectomy. PMID:25217455

  6. 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.

  7. A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

    Science.gov (United States)

    Rubattu, Speranza; Bozzao, Cristina; Pennacchini, Ermelinda; Pagannone, Erika; Musumeci, Beatrice Maria; Piane, Maria; Germani, Aldo; Savio, Camilla; Francia, Pietro; Volpe, Massimo; Autore, Camillo; Chessa, Luciana

    2016-07-30

    Sequencing of sarcomere protein genes in patients fulfilling the clinical diagnostic criteria for hypertrophic cardiomyopathy (HCM) identifies a disease-causing mutation in 35% to 60% of cases. Age at diagnosis and family history may increase the yield of mutations screening. In order to assess whether Next-Generation Sequencing (NGS) may fulfil the molecular diagnostic needs in HCM, we included 17 HCM-related genes in a sequencing panel run on PGM IonTorrent. We selected 70 HCM patients, 35 with early (≤25 years) and 35 with late (≥65 years) diagnosis of disease onset. All samples had a 98.6% average of target regions, with coverage higher than 20× (mean coverage 620×). We identified 41 different mutations (seven of them novel) in nine genes: MYBPC3 (17/41 = 41%); MYH7 (10/41 = 24%); TNNT2, CAV3 and MYH6 (3/41 = 7.5% each); TNNI3 (2/41 = 5%); GLA, MYL2, and MYL3 (1/41=2.5% each). Mutation detection rate was 30/35 (85.7%) in early-onset and 8/35 (22.9%) in late-onset HCM patients, respectively (p < 0.0001). The overall detection rate for patients with positive family history was 84%, and 90.5% in patients with early disease onset. In our study NGS revealed higher mutations yield in patients with early onset and with a family history of HCM. Appropriate patient selection can increase the yield of genetic testing and make diagnostic testing cost-effective.

  8. Validation of pixel-wise parametric mapping of myocardial blood flow with {sup 13}NH{sub 3} PET in patients with hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Sciagra, Roberto; Passeri, Alessandro; Castagnoli, Helga; Pupi, Alberto [University of Florence, Nuclear Medicine Unit, Department of Experimental and Clinical Biomedical Sciences, Florence (Italy); Cipollini, Fabrizio [University of Florence, Department of Statistics, Florence (Italy); Olivotto, Iacopo; Cecchi, Franco [University of Florence, Department of Clinical and Experimental Medicine, Florence (Italy); Burger, Cyrill [Pmod Technologies Ltd, Zurich (Switzerland)

    2015-09-15

    Transmural abnormalities in myocardial blood flow (MBF) are important causes of ischaemia in patients with left ventricular (LV) hypertrophy. The study aimed to test whether pixel-wise parametric mapping of {sup 13}NH{sub 3} MBF can reveal transmural abnormalities in patients with hypertrophic cardiomyopathy (HCM). We submitted 11 HCM patients and 9 age-matched controls with physiological LV hypertrophy to rest and stress (dipyridamole) {sup 13}NH{sub 3} PET. We measured MBF using a compartmental model, and obtained rest and stress parametric maps. Pixel MBF values were reorganized to obtain subendocardial and subepicardial MBF of LV segments. MBF at rest was higher in the subendocardial than in the subepicardial layer: 0.78 ± 0.19 vs. 0.60 ± 0.18 mL/min/g in HCM patients; 0.92 ± 0.24 vs. 0.75 ± 0.24 mL/min/g in controls (both p < 0.0001). Transmural perfusion gradient (TPG = subendocardial MBF/subepicardial MBF) at rest was similar: 1.35 ± 0.31 in HCM patients; 1.28 ± 0.27 in controls (NS). During stress, controls maintained higher subendocardial MBF: 2.44 ± 0.54 vs. 1.96 ± 0.67 mL/min/g tissue (p < 0.0001), with a TPG of 1.33 ± 0.35 (NS vs. rest). In HCM patients, the difference between subendocardial and subepicardial MBF was reduced (1.46 ± 0.48 vs. 1.36 ± 0.48 mL/min/g tissue, p < 0.01) and TPG decreased to 1.11 ± 0.34 (p < 0.0001 vs. rest and vs. controls). In HCM patients 8 of 176 segments had subendocardial MBF less than -2 x SD of the mean, versus none of 144 segments in controls (p < 0.01). Pixel-wise parametric mapping of {sup 13}NH{sub 3} MBF enables the identification of transmural abnormalities in patients with HCM. (orig.)

  9. Polymorphisms of angiotensin-converting enzyme 2 gene associated with magnitude of left ventricular hypertrophy in male patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    WANG Shu-xia; HUI Ru-tai; FU Chun-yan; ZOU Yu-bao; WANG Hu; SHI Yi; XU Xi-qi; CHEN Jing-zhou; SONG Xiao-dong; HUAN Tu-jun

    2008-01-01

    Background Even carrying an identicai gene mutation, inter- and intra-family variations have been noticed worldwide in the presence and the severity of left ventricular hypertrophy and sudden death in patients with hypertrophic cardiomyopathy (HCM). Modifier genes may contribute to the diversity. Angiotensin-converting enzyme 2 (ACE2) gene has been established to be associated with parameters of left ventricular hypertrophy in Community based male subjects.The objective of the present study was to investigate the association of ACE2 gene polymorphisms with the phenotype of HCM.Methods A total of 261 consecutive HCM patients and 609 healthy controls were enrolled into this study. The polymorphism of rs2106809 and rs6632677 were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and confirmed by sequencing. Logistic regression model and multivariate analysis were used to determine the odds ratio (OR) and 95% confidence intervals (CI) of variations of ACE2 for HCM.Results The T allele of rs2106809 and C allele of rs6632677 conferred increasing risk for HCM (OR 1.34, 95% CI 1.01-1.77, P=0.04; OR 1.11, 95% CI 1.03-1.21, P=0.002, respectively), and the 2 single nucleotide polymorphisms (SNPs) were in strong linkage disequilibrium (LD), the TC haplotype was independently associated with a higher OR for HCM (OR=1.59, 95% CI 1.21-1.87) after adjusted for conventional risk factors. And the risk alleles were associated with thicker interventricular septal thickness of HCM ((20.0±6.3) mm vs (17.9±5.5) mm, P=0.03 and (21.3±5.9) mm vs (17.9±5.8) mm, P=O.04, respectively). No association was found between the two polymorphisms with female patients with HCM.Conclusion Minor alleles of ACE2 gene might be the genetic modifier for the magnitude of left ventricular hypertrophy in male patients with HCM.

  10. MR imaging in cardiomyopathies

    International Nuclear Information System (INIS)

    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.)

  11. Non-hypertrophic cardiomyopathy presenting as left ventricular hypertrophy in 4 cases%左心室肥厚而非肥厚型心肌病的病例分析

    Institute of Scientific and Technical Information of China (English)

    吴鸿谊; 钱菊英; 崔洁; 聂振宁; 彭娟; 葛均波

    2012-01-01

    目的 探讨以左心室肥厚为临床表征而非肥厚型心肌病的诊疗经验.方法 分析临床上遇到的4例初步诊断为肥厚型心肌病最终考虑为其他相对少见心肌病患者的临床表现特点、辅助检查结果和诊断方法.结果 4例均为由超声心动图检查出的不可解释的心肌肥厚患者.1例17岁男性,心肌极度肥厚合并预激的心电图图形、伴有近端肌肉萎缩和智力发育迟缓,肌酶升高,骨骼肌病理为边缘存在肌膜蛋白的自噬空泡性肌病,诊断为Danon病.1例老年女性,表现为梗阻性肥厚型心肌病,其姐姐明确诊断为Fabry病,诊断为晚发的轻型Fabry病.1例青年男性,表现为心肌肥厚和A型预激,但无其他异常,有明确的家族史,考虑为编码AMP激活蛋白激酶y2亚单位(PRKAG2)心脏综合征可能.1例44岁男性,心肌肥厚程度与心电图电压不匹配,肾穿刺活组织病理检查发现淀粉样变性,诊断为原发性淀粉样变浸润心肌.结论 除原发性遗传性的肥厚型心肌病外,尚有少见的代谢性遗传性肥厚型心肌病和系统疾病浸润心肌导致的心肌肥厚,值得引起重视.%Objective To summarize the diagnosis experience for non-hypertrophic myocardiopathy presenting as left ventricular hypertrophy. Methods The clinical characteristics, auxiliary examinations and diagnostic methods of 4 patients with rare diseases presenting as hypertrophic myocardiopathy were retrospectively investigated. Results All patients had unexplainable myocardial hypertrophy. A 17-years-old male patient with clinical features of extreme myocardial hypertrophy, ventricular pre-excitation, proximal muscle weakness, slow intelligence development, high creatase level and intracytoplasmic autophagic vacuoles in muscle cells was diagnosed as having Danon disease. An old female patient was diagnosed as delayed mild Fabry disease presenting as obstructive hypertrophic cardiomyopathys her elder sister had been

  12. DNA analysis in inherited cardiomyopathies : Current status and clinical relevance

    NARCIS (Netherlands)

    Van Spaendonck-Zwarts, Karin Y.; Van den Berg, Maarten P.; Van Tintelen, J. Peter

    2008-01-01

    Most hypertrophic cardiomyopathies and a subset of dilated and arrhythmogenic right ventricular cardiomyopathies are familial diseases. They generally show an autosomal dominant pattern of inheritance and have underlying mutations in genes encoding sarcomeric, cytoskeletal, nuclear envelope, and des

  13. [Gallopamil and chlorthalidone versus atenolol and chlorthalidone in the treatment of obstructive hypertrophic cardiomyopathy in patients with arterial hypertension: polycardiographic evaluation of the systolic and diastolic function of the left ventricle].

    Science.gov (United States)

    Chieppa, S; Lobascio, C; Brandini, V; Iarussi, D; Giuliani, F; Langella, S; De Simone, R

    1989-08-01

    In 13 patients, affected by hypertrophic obstructive cardiomyopathy (HOCM) and essential hypertension, antihypertensive-efficacy and effects of a new calcium-channel blocker (gallopamil) associated with a diuretic agent (chlorthalidone) on left ventricular systolic and diastolic performance assessed by phonocardiographic methods. The results were compared to those obtained, in the same group of patients, with a selective beta-blocker (atenolol) associated with the same diuretic agent (chlorthalidone). With both therapeutic regimens a statistically significant reduction of systolic and diastolic arterial pressure was observed; both agents were able to reduce hemodynamic gradient in systole which characterize HOCM; however, the treatment with gallopamil plus chlorthalidone determined greater effects on left ventricular diastolic function as compared to the treatment with atenolol plus chlorthalidone; both treatments determined bradycardia. PMID:2605580

  14. The regional myocardial microvascular dysfunction differences in hypertrophic cardiomyopathy patients with or without left ventricular outflow tract obstruction: Assessment with first-pass perfusion imaging using 3.0-T cardiac magnetic resonance

    Energy Technology Data Exchange (ETDEWEB)

    Xu, Hua-yan [Department of Radiology, National Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 37# Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Yang, Zhi-gang, E-mail: yangzg666@163.com [Department of Radiology, National Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 37# Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Sun, Jia-yu; Wen, Ling-yi; Zhang, Ge; Zhang, Shuai [Department of Radiology, National Key Laboratory of Biotherapy, West China Hospital, Sichuan University, 37# Guo Xue Xiang, Chengdu, Sichuan 610041 (China); Guo, Ying-kun [Department of Radiology, West China Second University Hospital, Sichuan University (China)

    2014-04-15

    Purpose: To assess regional myocardial microvascular dysfunction differences in hypertrophic cardiomyopathy (HCM) patients with or without left ventricular outflow tract obstruction using 3.0-T cardiac magnetic resonance (CMR) first-pass perfusion imaging. Materials and methods: Forty-two HCM patients, including 25 HCM patients with left ventricular outflow tract obstruction (HOCM), 17 HCM patients without left ventricular outflow tract obstruction (NOHCM), and 14 healthy subjects underwent CMR. The left ventricular (LV) function, left ventricular end-diastolic wall thickness (EDTH), and diameter of left ventricular outflow tract (LVOT) were measured and calculated. Based on the signal–time curve of the first-pass myocardium perfusion imaging, perfusion parameters including upslope, time to peak, and peak intensity, were assessed and compared by using one-way analysis of variance and independent t tests. Results: On the first-pass perfusion imaging, lower upslope and peak intensity and longer time to peak were found in HCM patients compared with normal subjects (all p < 0.05). In contrast to the NOHCM group, the average time to peak of the HOCM group was increased (13.30 ± 4.82 s vs 16.28 ± 4.90 s, p < 0.05), but first-pass perfusion upslope was reduced (4.96 ± 2.55 vs 2.58 ± 0.77, p < 0.05). According to the bull's-eye model, the HOCM group's average thickness of basal segments was thicker than the NOHCM group, especially the anteroseptal, inferolateral, and anterior wall values, with a corresponding lower first-pass perfusion upslope than the NOHCM group (all p < 0.05). A significant correlation was observed between first-pass perfusion upslope and LV EDTH (r = −0.551, p < 0.001) and LVOT diameter (r = 0.472, p < 0.001). Conclusions: The regional myocardial microvascular dysfunction differences in hypertrophic cardiomyopathy (HCM) patients with or without left ventricular outflow tract obstruction can be detected with first-pass perfusion CMR

  15. 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 ...

  16. Study the presence of mutations in exons 30 and 33 MYBPC3 gene in patients with hypertrophic cardiomyopathy by PCR-SSCP/HA method in Chaharmahal and Bakhtiari

    OpenAIRE

    Sheikhshahrokh A; Hashemzadeh Chaleshteri M; Doosti A; Parchami Barjoui S

    2016-01-01

    Background and aims: HCM is a common form of hereditary heart disease with Mendelian inheritance that is a frequent cause of sudden cardiac death in the people younger than 35 years. In more than 50% of cases the cause of HCM identified as gene mutations. Mutations in the gene MYBPC3 (which encodes the cardiac Myosin binding protein C) are about 40% of clinical cases. This study was aimed to investigate the presence of mutations in exons 30 and 33 MYBPC3 gene in patients with hypertrophic car...

  17. Role of multimodality cardiac imaging in the management of patients with hypertrophic cardiomyopathy: an expert consensus of the European Association of Cardiovascular Imaging Endorsed by the Saudi Heart Association.

    Science.gov (United States)

    Cardim, Nuno; Galderisi, Maurizio; Edvardsen, Thor; Plein, Sven; Popescu, Bogdan A; D'Andrea, Antonello; Bruder, Oliver; Cosyns, Bernard; Davin, Laurent; Donal, Erwan; Freitas, Antonio; Habib, Gilbert; Kitsiou, Anastasia; Petersen, Steffen E; Schroeder, Stephen; Lancellotti, Patrizio; Camici, Paolo; Dulgheru, Raluca; Hagendorff, Andreas; Lombardi, Massimo; Muraru, Denisa; Sicari, Rosa

    2015-03-01

    Taking into account the complexity and limitations of clinical assessment in hypertrophic cardiomyopathy (HCM), imaging techniques play an essential role in the evaluation of patients with this disease. Thus, in HCM patients, imaging provides solutions for most clinical needs, from diagnosis to prognosis and risk stratification, from anatomical and functional assessment to ischaemia detection, from metabolic evaluation to monitoring of treatment modalities, from staging and clinical profiles to follow-up, and from family screening and preclinical diagnosis to differential diagnosis. Accordingly, a multimodality imaging (MMI) approach (including echocardiography, cardiac magnetic resonance, cardiac computed tomography, and cardiac nuclear imaging) is encouraged in the assessment of these patients. The choice of which technique to use should be based on a broad perspective and expert knowledge of what each technique has to offer, including its specific advantages and disadvantages. Experts in different imaging techniques should collaborate and the different methods should be seen as complementary, not as competitors. Each test must be selected in an integrated and rational way in order to provide clear answers to specific clinical questions and problems, trying to avoid redundant and duplicated information, taking into account its availability, benefits, risks, and cost. PMID:25650407

  18. 心脏磁共振成像新技术及其在肥厚型心肌病研究中的应用%Cardiac Magnetic Resonance New Technologies and Its Application for Investigation in Hypertrophic Cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    雷晓琳; 陈石(综述); 陈玉成(审校)

    2015-01-01

    Cardiovascular magnetic resonance imaging has recently emerged as a important non-invasive imaging modality in cardio-vascular disease.Newer technique of late gadolinium enhancement, T1 and T2 mapping enable histologic characterization of myocardium in vivo.Application of these new imaging techniques for investigation in hypertrophic cardiomyopathy provide unique information on a wide range and even some promotion in clinical practice.So we will review related studies in this article.%心脏磁共振成像在心血管疾病影像学中的地位日益显著。近年来随着一系列新的心脏磁共振成像新技术如钆延迟强化显像、T1及T2 mapping的出现,使得人们可以从组织学水平观察活体的心脏组织。这些新的磁共振成像技术应用于肥厚型心肌病的临床研究中,大大扩展了人们的视野,使人们对该种疾病有了全新的认识,甚至推动临床诊疗工作产生了巨大进步。现将近年来相关研究进行综述。

  19. Human junctophilin-2 undergoes a structural rearrangement upon binding PtdIns(3,4,5)P3 and the S101R mutation identified in hypertrophic cardiomyopathy obviates this response.

    Science.gov (United States)

    Bennett, Hayley J; Davenport, John Bernard; Collins, Richard F; Trafford, Andrew W; Pinali, Christian; Kitmitto, Ashraf

    2013-12-01

    JP2 (junctophilin-2) is believed to hold the transverse tubular and jSR (junctional sarcoplasmic reticulum) membranes in a precise geometry that facilitates excitation-contraction coupling in cardiomyocytes. We have expressed and purified human JP2 and shown using electron microscopy that the protein forms elongated structures ~15 nm long and 2 nm wide. Employing lipid-binding assays and quartz crystal microbalance with dissipation we have determined that JP2 is selective for PS (phosphatidylserine), with a Kd value of ~0.5 μM, with the N-terminal domain mediating this interaction. JP2 also binds PtdIns(3,4,5)P3 at a different site than PS, resulting in the protein adopting a more flexible conformation; this interaction is modulated by both Ca(2+) and Mg(2+) ions. We show that the S101R mutation identified in patients with hypertrophic cardiomyopathy leads to modification of the protein secondary structure, forming a more flexible molecule with an increased affinity for PS, but does not undergo a structural transition in response to binding PtdIns(3,4,5)P3. In conclusion, the present study provides new insights into the structural and lipid-binding properties of JP2 and how the S101R mutation may have an effect upon the stability of the dyad organization with the potential to alter JP2-protein interactions regulating Ca(2+) cycling. PMID:24001019

  20. 肥厚型心肌病心房颤动:决定因素、临床进程与处理%Atrial fibrillation in hypertrophic cardiomyopathy:determinants,clinical course and management

    Institute of Scientific and Technical Information of China (English)

    Iacopo Olivotto; Paolo DiDonna; Aurelio Sgalambro; Massimo Baldi; Barry J Maron; Franco Cecchi

    2009-01-01

    Atrial fibrillation(AF)is the most common sustained arrhythmia in patients with hypertrophic cardiomyopathy(HCM),and represents an important complication in the clinical COUlee of the disease,with adverse consequences on functional status and outcome.Studies on community-based HCM patient populations have shown that AF is associated with long-term clinical deterioration,cardioembolic stroke and increaeed cardiovascular mortality due to heart failure and stroke.Moreover.acute onset of AF may cause severe hemodynamic impairment and represent a trigger of potentially lethal ventricular arrhythmias.However,the consequences of AF on the long-term prognosis of HCM patients are not uniformly unfavorable,and may be compatible with an uneventful course,when properly managed.Management of AF in HCM is challenging,particularly when onset occurs at a young age.Both paroxysmal and permanent AF represent clear indications for oral anticoagulation.In moat patients,maintenance of sinus rhythm is highly desirable but made difficult by the limited long-term efficacy and potentially hazardous side effects of available pharmacological options.In selected patients with HCM and severely symptomatic AF,radiofrequency catheter ablation may represent an effective therapeutic ahemative,improving functional status,and reducing or postponing the need for antiarrhythmic drugs. In patients with persistent AF,in whom maintenance of sinus rhythm is not feasible.adequate ventricular rate control should be pursued aggressively by atrio-ventricular node blocking agents.

  1. 室间隔切除术:治疗梗阻性肥厚型心肌病的金标准%Septal myectomy for obstructive hypertrophic cardiomyopathy:the gold standard

    Institute of Scientific and Technical Information of China (English)

    Joseph A Dearani; Hartzell V Schaff; Steve R Ommen

    2009-01-01

    Septal myectomy effectively and definitively relieves LVOT obstruction and cardiac symptoms in adults and children with obstructive hypertrophic cardiomyopathy(HCM).Abnormalities of the mitral valve can be addressed without the need for mitral valve replacement in almost all circumstances.Concomitant mitral valve repair for myxomatous disease requires minor modifications when performed in conjunction with septal myectomy;mitral valve replacement is rarely necessary.In experienced centers,early mortality for isolated septai myectomy is low(~1%)and overall results are excellent and continue to improve in the current era.Symptomatic improvement with myectomy is expected for most;90% of patients improve by at least one functional class,and most remain improved on late follow-up.Late survivorship is improved compared to nonopereted patients with obstructive HCM,and myectomy may be associated with reduced risk of sudden cardiac death.These results should serve as the gold standard and a basis for comparison with newer nonsurgical medalities,i.e.,septal alcohol ablation.

  2. Peripartum cardiomyopathy

    Science.gov (United States)

    Cardiomyopathy - peripartum ... Cardiomyopathy occurs when there is damage to the heart. As a result, the heart muscle becomes weak ... the lungs, liver, and other body systems. Peripartum cardiomyopathy is a form of dilated cardiomyopathy in which ...

  3. MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency

    Directory of Open Access Journals (Sweden)

    Muhammad Ali Pervaiz

    2011-01-01

    Full Text Available Very long chain acyl-CoA dehydrogenase (VLCAD deficiency is one of the genetic defects of mitochondrial fatty acid beta-oxidation presenting in early infancy or childhood. If undiagnosed and untreated, VLCAD deficiency may be fatal, secondary to cardiac involvement. We assessed the effect of replacing part of the fat in the diet of a 2 ΍-month-old male infant, who was diagnosed with VLCAD deficiency,with medium-chain triglyceride (MCT oil and essential fats. The patient presented with vomiting, dehydration, and was found to have persistent elevation of liver function tests, hepatomegaly, pericardial and pleural effusion, right bundle branch block, and biventricular hypertrophy. Because of the cardiomyopathy, hepatomegaly, and an abnormal acylcarnitine profile and urine organic acids, he was suspected of having VLCAD deficiency. This was confirmed on acyl-coA dehydrogenase, very long chain (ACADVL gene analysis. He was begun on an MCT oil-based formula with added essential fatty acids, uncooked cornstarch (around 1 year of age, and frequent feeds. By 7 months of age, cardiomyopathy had reversed and by 18 months of age, all cardiac medications were discontinued and hypotonia had improved such that physical therapy was no longer required. At 5 years of age, he is at the 50 th percentile for height and weight along with normal development. Pediatricians need to be aware about the basic pathophysiology of the disease and the rationale behind its treatment as more patients are being diagnosed because of expansion of newborn screen. The use of MCT oil as a medical intervention for treatment of VLCAD deficiency remains controversial mostly because of lack of clear phenotype-genotype correlations, secondary to the genetic heterogeneity of the mutations. Our case demonstrated the medical necessity of MCT oil-based nutritional intervention and the need for the further research for the development of specific guidelines to improve the care of these

  4. Using molecular genetics to guide the diagnosis and treatment of hypertrophic cardiomyopathy%运用分子遗传学来指导肥厚型心肌病的诊断与治疗

    Institute of Scientific and Technical Information of China (English)

    王立斌; J·G·Seidman; Christine E. Seidman

    2009-01-01

    @@ 肥厚型心肌病(hypertrophy cardiomyopathy,HCM)是常染色体显性遗传疾病,其特征为在无明显诱因的(如高血压或瓣膜疾病)的心肌肥厚~([1]).在过去的50多年中,有关此疾病的文献报道已数以千计.最早对HCM的描述只局限于该病的病理解剖及组织学特征~([2-3]).随后,因血液动力学改变而导致多种临床表现的机制得到了进一步的阐述,例如左心室流出道梗阻~([4])以及无症状患者的猝死~([5]).%Hypertrophy cardiomyopathy(HCM)is an autosomal dominant disorder characterized by increased heart mass that occurs without a defined stimulus(such as hypertension or valvular disease).It is commonly recognized through the widespread use of non-invasive imaging.Epidemiological studies indicate that 1 of 500 individuals has unexplained cardiac hypertrophy, an observation that predicts a considerable role for genetics in this enigmatic disorder. Indeed, to date, more than 500 mutations had been identified in more than 12 genes encoding components of the thick and thin filament of the sarcomere and other myofilament-related proteins. Intensive studies of HCM continue to take our understandings about this fascinating disease in new directions. Mechanistic analyses have provided insights into how mutational alterations in these structural proteins may trigger the hypertrophic remodeling processes and other associated clinical features of HCM. Based on these studies, investigations have been initiated to assess whether early pharmacological interventions could prevent or attenuate the development of the disease and its clinical sequelae. By combining pathophysiology with knowledge of genetic cause and molecular responses, HCM has begun to exemplify opportunities for predictive and personalized medicine. With the emergence of newer technologies that enable high-throughput sequencing of DNA, it is timely to review clinical manifestations and genetic causes of this unique disease, and how

  5. Cardiomiopatia hipertrófica e taquiarritmias detectadas por marcapasso Cardiomiopatía hipertrófica y taquiarritmias detectadas por marcapaso Hypertrophic cardiomyopathy and tachyarrhythmias detected by a pacemaker

    Directory of Open Access Journals (Sweden)

    Adrian Baranchuk

    2009-03-01

    Full Text Available Um homem de 56 anos veio à Clínica de Marcapasso para verificação de rotina de seu marcapasso. Ele havia apresentado um episódio de síncope na semana anterior. O paciente tinha um diagnostico prévio de cardiomiopatia hipertrófica (CMH não-obstrutiva crônica. Devido a um episódio prévio de síncope e bloqueio infrahisiano 2:1 documentado, um marcapasso permanente de dupla câmara havia sido implantado alguns anos antes. O dispositivo foi verificado, mostrando vários episódios de altas freqüências ventriculares. Uma análise cuidadosa dos eletrogramas intracardíacos armazenados no dispositivo mostrou taquicardia ventricular (TV com condução ventrículo-atrial 2:1. A seguinte exposição discute o diagnóstico alternativo e o manejo clínico em um diagnóstico não-usual de TV na presença de cardiomiopatia hipertrófica não-obstrutiva.Un varón de 56 anos vino a la Clínica de Marcapaso para verificación rutinaria de su marcapaso. Él había presentado un episodio de síncopa la semana anterior. El paciente tenía un diagnostico previo de cardiomiopatía hipertrófica (CMH no obstructiva crónica. Un marcapaso permanente de doble cámara había sido implantado algunos años antes, en virtud de un episodio previo de síncopa y bloqueo infrahisiano documentado 2:1. Se verificó el dispositivo, que presentó varios episodios de altas frecuencias ventriculares. Un análisis cuidadoso de los electrogramas intracardiacos almacenados en el dispositivo reveló taquicardia ventricular (TV con conducción ventrículo-atrial 2:1. La presente exposición discute el diagnóstico alternativo y el manejo clínico en un diagnóstico no usual de TV en la presencia de cardiomiopatía hipertrófica no obstructiva.A 56-year-old man came to the Pacemaker Clinic for his regular pacemaker control. He had experienced a syncopal episode in the previous week. He had a previous diagnosis of non-obstructive hypertrophic cardiomyopathy. Due to a previous

  6. Miocardiopatía hipertrófica como causa de muerte súbita en una mujer joven Hypertrophic cardiomyopathy presenting as sudden death in a young woman

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    A. Rico

    2007-01-01

    Full Text Available La miocardiopatía hipertrófica (MCH es una enfermedad genética muy heterogénea, con múltiples loci, identificándose para cada gen múltiples mutaciones. Está considerada en Estados Unidos la causa más frecuente de muerte súbita (MS en jóvenes, fundamentalmente atletas, siendo en ocasiones la primera manifestación de la enfermedad. La MCH se caracteriza morfológicamente por una hipertrofia asimétrica del ventrículo izquierdo y/o derecho con un patrón histopatológico caracterizado por desestructuración ("disarray" de los miocardiocitos en una matriz de tejido conectivo prominente así como hipertrofia de la íntima de las arterias coronarias intramurales. Se expone el caso de una mujer joven, de 25 años, diagnosticada clínicamente y con antecedentes familiares de MS por MCH en su madre, que presentó una MS mientras dormía.Hypertrophic cardiomyopathy (HCM is a genetic and very heterogeneous disease with multiple loci, and with several mutations identified for every gene. In USA, it is regarded as the most common cause of sudden death (SD in young people (mainly athletes, and occasionally SD is the initial presentation of the disease. HCM is morphologically characterized by an asymmetric hypertrophy of left and/or right ventricle with a histopathological pattern of cardiac myocytes dearrangement in a prominent connective tissue matrix, as well as intimal hypertrophy of intramural coronary arteries. In this paper, we present the case of a 25 year-old woman, clinically diagnosed with HCM, and with family history of HCM in her mother, who experienced a SD while sleeping.

  7. Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study

    Science.gov (United States)

    Mattos, Beatriz Piva e; Scolari, Fernando Luís; Torres, Marco Antonio Rodrigues; Simon, Laura; de Freitas, Valéria Centeno; Giugliani, Roberto; Matte, Úrsula

    2016-01-01

    Background: Mutations in sarcomeric genes are found in 60-70% of individuals with familial forms of hypertrophic cardiomyopathy (HCM). However, this estimate refers to northern hemisphere populations. The molecular-genetic profile of HCM has been subject of few investigations in Brazil, particularly in the south of the country. Objective: To investigate mutations in the sarcomeric genes MYH7, MYBPC3 and TNNT2 in a cohort of HCM patients living in the extreme south of Brazil, and to evaluate genotype-phenotype associations. Methods: Direct DNA sequencing of all encoding regions of three sarcomeric genes was conducted in 43 consecutive individuals of ten unrelated families. Results: Mutations for CMH have been found in 25 (58%) patients of seven (70%) of the ten study families. Fourteen (56%) individuals were phenotype-positive. All mutations were missense, four (66%) in MYH7 and two (33%) in MYBPC3. We have not found mutations in the TNNT2 gene. Mutations in MYH7 were identified in 20 (47%) patients of six (60%) families. Two of them had not been previously described. Mutations in MYBPC3 were found in seven (16%) members of two (20%) families. Two (5%) patients showed double heterozygosis for both genes. The mutations affected different domains of encoded proteins and led to variable phenotypic expression. A family history of HCM was identified in all genotype-positive individuals. Conclusions: In this first genetic-molecular analysis carried out in the south of Brazil, we found mutations in the sarcomeric genes MYH7 and MYBPC3 in 58% of individuals. MYH7-related disease was identified in the majority of cases with mutation. PMID:27737317

  8. Prevention of sudden death in hypertrophic cardiomyopathy (HCM):implanted defibrillators in HCM%肥厚型心肌病猝死预防:肥厚型心肌病患者除颤器置入

    Institute of Scientific and Technical Information of China (English)

    Barry J Maron; Paolo Spirito

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is the most common cause of sudden cardiac death in young people. The implantable cardioverter-defibrillator (ICD), has recently proved to be a safe and effective therapeutic intervention in patients with HCM, both for the primary and secondary prevention of sudden death. Based on recent substantial experience, the ICD intervenes appropriately to termiante ventricular tachycardia/fibrillation (VT/VF), at a rate of 5.5%/year. ICD discharge rate is 4%/year in those patients implanted prophylactically due to one or more major risk markers, but often with considerable delays of up to 10 years before the device is required to intervene appropriately to terminate potentially letal ventricular tachyarrhythmias. Primary prevention of VT/VF occurs with similar frequency in high-risk patients having either 1,2 or ≥ 3 noninvasive risk markers, and about one-third of patients with appropriate device interventions had been implanted for only one risk factor. The ICD has proved reliable in HCM despite the extreme and complex phenotypes often present with massive degrees of left vcntricular hypertrophy, microvascular ischemia, diastolic dysfunction, or dynamic left ventricular outflow tract obstruction. Failure to convert life-threatening ventrieular tachyarrhythmias to normal rhythm is extraordinarily rare. In conclusion, in high-risk HCM patients, ICDs perform in a highly effective fashion,frequently preventing sudden death by aborting primary life-threatening ventricular tachyarrhythmias. A single marker of high risk can be sufficient evidence to justify the recommendation for a prophylactic ICD in selected patients with HCM.

  9. Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals with Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death

    Science.gov (United States)

    Boczek, Nicole J.; Ye, Dan; Jin, Fang; Tester, David J.; Huseby, April; Bos, J. Martijn; Johnson, Aaron J.; Kanter, Ronald; Ackerman, Michael J.

    2016-01-01

    Background A portion of sudden cardiac deaths (SCD) can be attributed to structural heart diseases such as hypertrophic cardiomyopathy (HCM) or cardiac channelopathies such as long QT syndrome (LQTS); however, the underlying molecular mechanisms are quite distinct. Here, we identify a novel CACNA1C missense mutation with mixed loss-of-function/gain-of-function responsible for a complex phenotype of LQTS, HCM, SCD, and congenital heart defects (CHDs). Methods and Results Whole exome sequencing (WES) in combination with Ingenuity Variant Analysis was completed on three affected individuals and one unaffected individual from a large pedigree with concomitant LQTS, HCM, and CHDs and identified a novel CACNA1C mutation, p.Arg518Cys, as the most likely candidate mutation. Mutational analysis of exon 12 of CACNA1C was completed on 5 additional patients with a similar phenotype of LQTS plus a personal or family history of HCM-like phenotypes, and identified two additional pedigrees with mutations at the same position, p.Arg518Cys/His. Whole cell patch clamp technique was used to assess the electrophysiological effects of the identified mutations in CaV1.2, and revealed a complex phenotype, including loss of current density and inactivation in combination with increased window and late current. Conclusions Through WES and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and CHDs annotated as cardiac-only Timothy syndrome. Our electrophysiological studies, identification of mutations at the same amino acid position in multiple pedigrees, and co-segregation with disease in these pedigrees provides evidence that p.Arg518Cys/His is the pathogenic substrate for the observed phenotype. PMID:26253506

  10. Cardiomiopatia hipertrófica: importância dos eventos arrítmicos em pacientes com risco de morte súbita Hypertrophic cardiomyopathy: the importance of arrhythmic events in patients at risk for sudden cardiac death

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    Paulo de Tarso Jorge Medeiros

    2006-11-01

    ística supraventricular; 2- síncopes recorrentes na minoria dos pacientes (16%, que, entretanto, não se associaram à presença de eventos arrítmicos; 3- presença de septo interventricular superior a 30 mm, ao ecocardiograma, se associou à ocorrência de terapia de choque precoce (p = 0,003; 4- ausência de preditores clínicos ou funcionais.OBJECTIVE: It is controversial the correlation between complex ventricular arrhythmia of hypertrophic cardiomyopathy and cardiac sudden death (CSD. In patients with hypertrophic cardiomyopathy and at risk for CSD that have been undergone implantable cardioverter-defibrillator (ICD implantation, we evaluated: a- occurrence of arrhythmic events; b- clinical event occurrence and its correlation with arrhythmic events; c- ICD shock therapy occurrence and clinical-functional correlation; d- prognosis clinical-functional predictors. METHODS: Twenty-six patients have been studied. They presented hypertrophic cardiomyopathy and risk factors for CSD. These patients underwent ICD implantation, period May, 2000 through January, 2004 (average follow-up - 19 months. Fourteen patients (53.8% were female and the mean age was 42.7. Sixteen patients (61.5% ICD was performed due to primary prevention for sudden death and ten (38.5% secondary prevention. Twenty patients (76.9% had had syncope, previus to ICD implantation, half of them associated with ventricular fibrillation or sustained ventricular tachycardia; 15 had had family sudden death; 12 patients (46.2% presented non-sustained ventricular tachycardia at 24-hour Holter and 5 (19.2% showed the ventricular septum thickness larger than 30 mm. RESULTS: During the follow-up, 4 shocks therapy were recorded by ICD in potentially lethal arrythmias (3 sustained ventricular tachycardia and 1 ventricular fibrillation. There was one death, due to likely stroke. Four patients had syncope recurrence, with no arrhythmic event recorded by ICD. The statistical analysis has showed precocity significance of ICD shock, in

  11. Hypertrophic cardiomyopathy and hypertensive left ventricular hypertrophy by Beckoning figure analysis%肥厚性心肌病与高血压性左心室肥厚超声心动图对比分析

    Institute of Scientific and Technical Information of China (English)

    舒娜

    2016-01-01

    Objective The hypertrophic cardiomyopathy and hypertensive left ventricular hypertrophy Beckon-ing ultrasound results were analyzed, and the clinical features were summarized. Methods Selection of hypertrophic cardiomyopathy from April to 2014 in 2013 May in our hospital and patients with hypertensive left ventricular hyper-trophy 30 cases as LVH group and HCM group, 30 cases in healthy people for physical examination in our hospital as control group, to compare the three groups of patients with Heartbeat ultrasound graph, after analysis, three groups of ultrasound patients were analyzed and Heartbeat map between QT dispersion. Results Control group cardiac index map and QT dispersion and LVH group and HCM groups exist obvious differences and LVH group and the HCM group left ventricular myocardial weight (LVmass), interventricular septal thickness (LVST), diastolic interventricular septum thickness (LVSTd), diastolic late left ventricular posterior wall thickness (LVPWTd) and QT dispersion were lower than the control group (P<0.05), and the difference is statistically significant; LVH group and HCM groups be-tween lvmass, LVST, LVSTd / LVPWTd and QT dispersion difference significantly(P<0.05), the difference is signifi-cant. Conclusion Hypertrophic cardiomyopathy and hypertensive left ventricular hypertrophy echocardiography has obvious difference, echocardiography showed significant diagnostic value of more than two diseases, the diagnosis model is worth in the clinical practice, to reference and promotion, the other group of patients with HCM QT disper-sion is large, so in the course of treatment. Prevention efforts should be strengthened to malignant arrhythmia.%目的:探讨肥厚性心肌病与高血压性左心室肥厚超声心动图结果的异同点。方法选择2013年4月至2014年5月该院收治的肥厚性心肌病和高血压性左心室肥厚患者各30例分别作为左心室肥厚(LVH)组和非对称性室间隔肥厚(HCM)组

  12. Restrictive cardiomyopathy

    Science.gov (United States)

    Cardiomyopathy - restrictive; Infiltrative cardiomyopathy ... In a case of restrictive cardiomyopathy, the heart muscle is normal size or slightly enlarged. Most of the time, it also pumps normally. However, it does not ...

  13. 肥厚型心肌病患者静息脉压和运动诱导的血压异常之间的关系%Relationship between Pulse Pressure and Abnormal Blood Pressure Response to Exercise in Patients with Hypertrophic Cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    古平; 代静澜; 潘波; 杨坤; 粱伟

    2012-01-01

    Objective: To explore the relationship between pulse pressure and abnormal blood pressure response to exercise in patients with hypertrophic cardiomyopathy. Methods: 70 patients with hypertrophic cardiomyopathy admitted in our hospital from January 2007 to January 2012 underwent echocardiography for assessment of the cardiac dimensions followed by a symptom-limited exercise test using a standard Bruce protocol with a concurrent hemodynamic assessment. Measurement of blood pressure was proceeded after the patient supine rest and exercise. Results: In the patients with hypertrophic cardiomyopathy, post-exercise blood pressure response to abnormal resting pulse pressure was significantly higher than normal. Pulse pressure was significantly greater in patients with an abnormal blood pressure response to exercise than that without an abnormal blood pressure response to exercise (P=0.007). According to binary logistic regression analysis, pulse pressure at rest was a significant predictor of abnormal blood pressure response to exercise in patients with hypertrophic cardiomyopathy, excluding age, gender, left ventricular posterior wall thickness, septal thickness, left ventricular outflow tract obstruction(P=0.016). Conclusions: Pulse pressure at rest could be used as an effective auxiliary index to prevent the occurrence of sudden cardiac death in patients with hypertrophic cardiomyopathy.%目的:探讨肥厚型心肌病患者静息脉压和运动诱导的血压异常之间的关系.方法:根据Bruce方案,对70例2007年1月至2012年1月在我院治疗的肥厚型心肌病患者进行症状限制运动试验,监测患者的血液动力学指标,即分别在患者仰卧休息和运动结束后测量血压.结果:肥厚型心肌病患者中,运动后血压反应异常者与正常者相比,前者的静息脉压显著高于后者.表现出运动性非正常血压反应的肥厚型心肌病患者,静息脉压明显高于无运动性非正常血压反应患者(P=0.007).根

  14. 雌激素对心肌肥厚小鼠T淋巴细胞免疫调节作用的影响%The effect of estrogen on T lymphocyte immunoregulation in mice with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    刘正霞; 蔡诗昆; 周萍; 刘莹; 鲁翔

    2014-01-01

    比例降低、CD4+/CD8+比例升高,差异均有统计学意义( t=-2.78、3.37、-3.42、3.16,均 P<0.05或0.01)。结论雌激素对于高血压心肌肥厚过程中的T淋巴细胞免疫具有重要的调节作用。%Objective To investigate the effect of the estrogenfor on T lymphocyte immunoregulation in mice with hypertrophic cardiomyopathy caused by AngⅡ .Methods Thirty one female C57BL/6 mice between 8~10 weeks were randomly divided into 4 groups:Sham (n=8) ,Sham+AngⅡ (n=7) ,Ovx (n=8) ,Ovx+AngⅡ (n=8) .Osmotic mini pumps containing AngⅡ (1000 ng・kg-1・d-1 ) were implanted subcutaneously in experimental mice .Thirty days after mini pump implantation ,blood pressure and heart rate were measured noninvasively in conscious animals by the tail cuff method .Transthoracic echocardiography was performed under light sedation with 1 .0% isoflurane .Ejection fraction(EF) , fractional shortening (FS ) , diastolic/systolic ventricular septal (IVSd/IVSs ) and posterior wall thickness (LVPWTd/LVPWTs) ,left ventricular diastolic and systolic volumes (LV VOLd/LV VOLs) were measured before and at the second , third ,fourth ,fifth week after the treatment .The immunologic markers of T cells CD3+ ,CD4+ ,CD8+ were analyzed by multicolor flow cytometry .Results The hypertension and hypertrophic cardiomyopathy model was set up in the mice by infusion of AngⅡ (1000 ng/kg per day) .Each time point after modeling ,Sham+AngⅡ group showed significantly higher systolic blood pressure than in the sham group ,Ovx+AngⅡ group increased in systolic blood pressure compared with Ovx group .There were significant difference ( F=15.23 ,P<0.01 ) .Compared with the Sham group ,Sham+AngⅡ group indicated significantly increased IVSs ,IVSd ,LVPWs ,LVPWd ( t=3.81、7.74、3.87、7.73 ,P<0 .01 );Compared with Ovx ,Ovx+AngⅡ group showed significantly increased IVSs ,IVSd ,LVPWs ,LVPWd and significantly reduced LV VOLs , LV VOLd ( t=8.64、6.01、4.93、8.59、-2.16、-2.58 ,P

  15. Evolving Approaches to Genetic Evaluation of Specific Cardiomyopathies.

    Science.gov (United States)

    Teo, Loon Yee Louis; Moran, Rocio T; Tang, W H Wilson

    2015-12-01

    The understanding of the genetic basis of cardiomyopathy has expanded significantly over the past 2 decades. The increasing availability, shortening diagnostic time, and lowering costs of genetic testing have provided researchers and physicians with the opportunity to identify the underlying genetic determinants for thousands of genetic disorders, including inherited cardiomyopathies, in effort to improve patient morbidities and mortality. As such, genetic testing has advanced from basic scientific research to clinical application and has been incorporated as part of patient evaluations for suspected inherited cardiomyopathies. Genetic evaluation framework of inherited cardiomyopathies typically encompasses careful evaluation of family history, genetic counseling, clinical screening of family members, and if appropriate, molecular genetic testing. This review summarizes the genetics, current guideline recommendations, and evidence supporting the genetic evaluation framework of five hereditary forms of cardiomyopathy: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). PMID:26472190

  16. Importance of genetic evaluation and testing in pediatric cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Muhammad; Tariq; Stephanie; M; Ware

    2014-01-01

    Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders that are responsible for significant morbidity and mortality. Phenotypes include hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular noncompaction and arrhythmogenic right ventricular cardiomyopathy. There is substantial evidence for a genetic contribution to pediatric cardiomyopathy. To date, more than 100 genes have been implicated in cardiomyopathy, but comprehensive genetic diagnosis has been problematic because of the large number of genes, the private nature of mutations, and difficulties in interpreting novel rare variants. This review will focus on current knowledge on the genetic etiologies of pediatric cardiomyopathy and their diagnostic relevance in clinical settings. Recent developments in sequencing technologies are greatly impacting the pace of gene discovery and clinical diagnosis. Understanding the genetic basis for pediatric cardiomyopathy and establishing genotypephenotype correlations may help delineate the molecular and cellular events necessary to identify potential novel therapeutic targets for heart muscle dysfunction in children.

  17. Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.

    Science.gov (United States)

    Cordina, Nicole M; Liew, Chu K; Gell, David A; Fajer, Piotr G; Mackay, Joel P; Brown, Louise J

    2013-03-19

    Troponin C (TnC) is the calcium-binding subunit of the troponin complex responsible for initiating striated muscle contraction in response to calcium influx. In the skeletal TnC isoform, calcium binding induces a structural change in the regulatory N-domain of TnC that involves a transition from a closed to open structural state and accompanying exposure of a large hydrophobic patch for troponin I (TnI) to subsequently bind. However, little is understood about how calcium primes the N-domain of the cardiac isoform (cTnC) for interaction with the TnI subunit as the open conformation of the regulatory domain of cTnC has been observed only in the presence of bound TnI. Here we use paramagnetic relaxation enhancement (PRE) to characterize the closed to open transition of isolated cTnC in solution, a process that cannot be observed by traditional nuclear magnetic resonance methods. Our PRE data from four spin-labeled monocysteine constructs of isolated cTnC reveal that calcium binding triggers movement of the N-domain helices toward an open state. Fitting of the PRE data to a closed to open transition model reveals the presence of a small population of cTnC molecules in the absence of calcium that possess an open conformation, the level of which increases substantially upon Ca(2+) binding. These data support a model in which calcium binding creates a dynamic equilibrium between the closed and open structural states to prime cTnC for interaction with its target peptide. We also used PRE data to assess the structural effects of a familial hypertrophic cardiomyopathy point mutation located within the N-domain of cTnC (A8V). The PRE data show that the Ca(2+) switch mechanism is perturbed by the A8V mutation, resulting in a more open N-domain conformation in both the apo and holo states.

  18. Calcium Ions in Inherited Cardiomyopathies.

    Science.gov (United States)

    Deftereos, Spyridon; Papoutsidakis, Nikolaos; Giannopoulos, Georgios; Angelidis, Christos; Raisakis, Konstantinos; Bouras, Georgios; Davlouros, Periklis; Panagopoulou, Vasiliki; Goudevenos, John; Cleman, Michael W; Lekakis, John

    2016-01-01

    Inherited cardiomyopathies are a known cause of heart failure, although the pathways and mechanisms leading from mutation to the heart failure phenotype have not been elucidated. There is strong evidence that this transition is mediated, at least in part, by abnormal intracellular Ca(2+) handling, a key ion in ventricular excitation, contraction and relaxation. Studies in human myocytes, animal models and in vitro reconstituted contractile protein complexes have shown consistent correlations between Ca(2+) sensitivity and cardiomyopathy phenotype, irrespective of the causal mutation. In this review we present the available data about the connection between mutations linked to familial hypertrophic (HCM), dilated (DCM) and restrictive (RCM) cardiomyopathy, right ventricular arrhythmogenic cardiomyopathy/dysplasia (ARVC/D) as well as left ventricular non-compaction and the increase or decrease in Ca(2+) sensitivity, together with the results of attempts to reverse the manifestation of heart failure by manipulating Ca(2+) homeostasis. PMID:26411603

  19. 肥厚型心肌病右室功能的二维应变成像研究%The evaluation of right ventricular function of hypertrophic cardiomyopathy using two dimensional strain imaging

    Institute of Scientific and Technical Information of China (English)

    权欣; 李慧; 郭继鸿; 朱天刚; 江勇; 朱振辉; 王浩

    2016-01-01

    Objective To assess RV myocardial function in patients with hypertension (H-LVH) using two dimensional strain imaging prospectively. Methods One hundred and thirty-six individuals were enrolled into this study ,divided into 3 groups :hypertrophic cardiomyopathy (n= 53) , hypertrophy secondary to hypertension (n = 36 ) and normal controls (n = 47 ). Echocardiographic parameters were measured ,including right ventricular basal dimension tracing from 4-chamber view , fractional area change (FAC) ,tricuspid annular plane systolic excursion (TAPSE) ,wall thickness of interventricular septum (IVST ) and left ventricular posterior wall (PWT ) ,left ventricular end-diastolic diameter (LVIDd) ,left ventricular ejection fraction (LVEF) ,right ventricle regional and global longitudinal strain derived from two-dimensional strain imaging were compared between groups. Results The wall thickness of HCM group was significantly higher than H-LVH group and control group ,whereas LVIDd was smaller ( P 0.05). Right ventricular diameters were smaller in HCM groups than H-LVH and control groups (all P< 0.05).Significance difference of regional and global strain existed between HCM group and the other 2 groups (P< 0.01).Cut-off value of global strain was - 9.75%to diagnose right ventricular functional remodeling in HCM ( P = 0.027 ). Conclusions Two-dimensional strain is superior to traditional echo parameters. Right ventricular remodeling is prone to present in hypertrophic cardiomyopathy than hypertensive hypertrophy.%目的:应用二维应变成像定量评价肥厚型心肌病(HCM )患者的右室局部及整体应变,与高血压性左室肥厚(H-LVH)及健康人进行对比研究。方法前瞻性纳入2015年5月至2016年4月的136例患者,分为3组:HCM 53例,H-LVH 36例,正常对照47例。测量检测右心功能指标,包括右室基底段横径、右室面积变化率、三尖瓣环收缩期位移、三尖瓣环组织收缩峰值速度、右室局

  20. 心肌超声造影评价肥厚型心肌病患者局部心肌收缩功能与灌注的关系%Evaluation of correlation between regional myocardial function and perfusion in patients with hypertrophic cardiomyopathy by myocardial contrast echocardiography

    Institute of Scientific and Technical Information of China (English)

    王婷; 邓又斌; 朱英; 王纯; 杨好意; 毕小军; 刘红云

    2011-01-01

    目的 应用斑点追踪技术评价肥厚型心肌病患者局部心肌收缩功能,同时应用心肌超声造影观察肥厚型心肌病患者局部心肌灌注改变,并探讨局部心肌收缩功能与灌注之间的关系.方法 对肥厚型心肌病患者(35例)和健康对照组(17名)行常规超声心动图检查,应用斑点追踪技术测量各节段二维应变值.按照患者就诊顺序随机进行心肌超声造影检查后对35例肥厚型心肌病患者中的20例愿意行造影检查者行心肌超声造影检查,测量系统自动给出心肌造影强度定量分析拟合指数函数Y=A(1-e-Kt)中的A值、K值并进行分析.结果 肥厚型心肌病患者心肌的总体纵向应变值、总体圆周应变值和总体径向应变值(23.48±1.86,24.22±3.95,41.05±10.28)均较健康对照组(15.76±3.63,20.03±4.24,30.83±11.28)明显减低,差异有统计学意义(t=-7.775、-3.167、-2.913,P均<0.01);总体圆周应变绝对值和A值正相关,有统计学意义(R=0.610,t=3.079,P<0.01);总体纵向应变绝对值与K值负相关,有统计学意义(R=0.469,t=-2.252,P<0.05);总体圆周应变绝对值与K值负相关,有统计学意义(R=0.550,t=-2.632,P<0.05).结论 肥厚型心肌病患者局部心肌收缩功能减低与灌注损伤有关,心肌超声造影检查是研究和诊断肥厚型心肌病可靠、有效的方法.%Objective To evaluate the regional myocardial function in patients with hypertrophic cardiomyopathy by speckle tracking imaging, then to observe the perfusion by myocardial contrast echocardiography and to explore the correlation between abnormal regional myocardial function and perfusion in patients with hypertrophic cardiomyopathy. Methods Fifty-two persons were investigated ( 35 patients with hypertrophic cardiomyopathy, 17 controls were included)to analyze the two-dimensional strain by speckle tracking imaging in the 3 left ventricle short-axis views( including mitral annulus level view, papillary muscle level view

  1. Insights into restrictive cardiomyopathy from clinical and animal studies

    OpenAIRE

    Jean-Charles, Pierre-Yves; Li, Yue-Jin; Nan, Chang-Long; Huang, Xu-Pei

    2011-01-01

    Cardiomyopathies are diseases that primarily affect the myocardium, leading to serious cardiac dysfunction and heart failure. Out of the three major categories of cardiomyopathies (hypertrophic, dilated and restrictive), restrictive cardiomyopathy (RCM) is less common and also the least studied. However, the prognosis for RCM is poor as some patients dying in their childhood. The molecular mechanisms behind the disease development and progression are not very clear and the treatment of RCM is...

  2. Genetische Analysen des N-Cadherin-Gens bei Patienten mit Non-Compaction-Kardiomyopathie - genetische Analysen des N-Cadherin-Gens bei Patienten mit hypertropher Kardiomyopathie

    OpenAIRE

    Donandt, Klaus

    2013-01-01

    Hypertrophic cardiomyopathy (HCM) is the second most common cardiomyopathy and the most common hereditary cardiac disease. As primary genetic cardiomyopathy the non-compaction cardiomyopathy (NC) is becoming increasingly important. Structural changes of the coupling between N-cadherin proteins and cytoskeleton can lead to cardiomyopathy. N-cadherin is the only classic Cadherin within the connection of heart muscle cells and stabilization of the cytoskeleton. Its reduced or total l...

  3. Novel MYBPC3 mutations in Chinese patients with hypertrophic cardiomyopathy%肥厚型心肌病患者肌球蛋白结合蛋白C基因筛查及其相应的临床特征

    Institute of Scientific and Technical Information of China (English)

    马占锋; 聂孝云; 杨进刚; 李田昌; 边红; 仝其广; 肖杰; 王国宏; 崔炜; 范瑞云; 李运田; 刘文玲; 胡大一; 谢文丽; 朱天刚; 孙艺红; 杨松娜; 李翠兰; 李蕾

    2009-01-01

    Objective To screen the MYBPC3 gene mutations in Han Chinese patients with hypertrophic cardiomyopathy ( HCM ). Methods Sixty-six patients with HCM were enrolled for the study. The exons in the functional regions of MYBPC3 were amplified with PCR and the products were sequenced. Results Four novel mutations and four common polymorphisms were identified in this patient cohort. A Lys301fs mutation in exon10 was evidenced in a H30, and when he was 47 years old, he had the chest tightness, shortness of breath with septal hypertrophy of 18. 7mm; a Asp463stop mutation in exonl7 was detected in a H48, he was 24 years old 24-year-old when a medical examination showed ventricular septal hypertrophy of 15.4 mm; both Gly523Arg mutation in exonl8 and Tyr847His mutation in exon26 were found in a H53 with onset age 36 years old, feeling chest tightness after excise and his ventricular septal hypertrophy was 27 mm that time. MYBPC3 mutatons occurred in 4. 5% patients in this cohort. These mutations were not found in 100 non-HCM control patients. Conclusion MYBPC3 mutation is presented in a small portion of Han Chinese patients with HCM.%目的 研究国人肥厚型心肌病(HCM)患者的致病基因一肌球蛋白结合蛋白C基因(myosin binding protein C gene,MYBPC3)的突变位点,分析基因突变类型与临床表型的相互关系.方法对66例HCM患者的MYBPC3基因进行扫描,聚合酶链反应扩增其外显子及剪接部位的基因组DNA片段,直接测序分析.分析各突变患者相应的临床表型特点.结果经测序分析,发现Lys30lfs移码突变、Asp463stop无义突变、Gly523Arg错义突变和Tyr847His错义突变.MYBPC3导致的HCM为3例,占病例总数的4.5%.其临床表型各异,患者H30(Lys301fs)47岁发病,活动后胸闷、气短,超声显示室间隔肥厚达18.7 mm,左心室后壁14.7 mm.患者H48(Asp463stop)为25岁男性,24岁发病,室问隔肥厚达15.4 mm.患者H53(Gly523Arg和Tyr847His)发病年龄36岁,活动后胸闷、憋气,

  4. 经导管射频消融治疗肥厚性心肌病合并心房颤动的初步经验%Radiofrequency catheter ablation of atrial fibrillation in patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    陆红进; 单其俊; 曹克将; 陈明龙; 杨兵; 居维竹; 陈红武; 张凤祥; 侯小锋; 陈椿; 邹建刚

    2009-01-01

    目的 报道经导管射频消融治疗肥厚性心肌病(HCM)伴心房颤动(房颤),并对其可行性、安全性、有效性进行评价.方法回顾性分析2006年8月至2008年10月期间因HCM伴房颤且药物治疗效果较差至南京医科大学第一附属医院行经导管射频消融治疗的患者临床资料.患者均接受三维标测系统(Carto或EnSite-NavX)导航下环肺静脉消融术达到同侧肺静脉隔离,对持续性房颤再行左心房碎裂电位消融以及线性消融.消融术后3个月内继续服用抗心律失常药物,并于消融术后1、3、6个月行动态心电图检查,出现症状后立即行常规心电图,随访治疗效果.结果 共11例HCM患者行射频消融术,年龄(52±17)岁,女性2例.其中6例为阵发性房颤,5例为持续性房颤.经导管射频消融后4周有1例因急性左心功能不良死亡,其余10例有4例复发,其中2例再次接受消融术.随访(14±10)个月,共有7例维持窦性心律,总成功率64%,未发生消融术相关的严重并发症.维持窦性心律者左心房内径及射血分数变化差异无统计学意义((46±4)mm vs(46±4)mm,0.64±0.05 vs 0.66±0.04,P>0.05],心功能改善(2.0±0.7 vs 1.2±0.4,P 0.05] before and after the procedure. Whereas the heart function showed marked improvement (2.0±0.7 vs 1.2±0.4, P<0. 05, the New York Heart Asso-ciation class) in patients who maintained sinus rhythm. Conclusion RFCA treatment was safe and effective for AF in the setting of hypertrophic cardiomyopathy and those who have good maintenance of sinus rhythm will ex-perience a marked improvement in heart function.

  5. Assessment and regression analysis of left ventricular mass with cardiovascular magnetic resonance in patients of hypertrophic cardiomyopathy%MR测量肥厚性心肌病患者的左心室质量及其回归分析

    Institute of Scientific and Technical Information of China (English)

    贡琪; 郭亮; 王希明; 陈剑华; 杨俊华; 陈铟铟

    2013-01-01

    目的 探讨肥厚性心肌(HCM)病患者左心室质量的相关因子.方法 对22例HCM和20名正常志愿者行心脏电影MR及延迟增强扫描,以Segment软件计算左心室功能参数及延迟强化参数,对左心室质量指数与其他参数行单元及多元回归分析.结果 HCM患者的左心室质量指数远大于正常人(P均<0.001).多元回归分析结果显示,HCM患者的最大室壁厚度与左心室质量指数相关(β=7.53,P=0.02);在收缩功能保持的HCM患者,左心室质量指数与左心室舒张末期容积指数(β=3.68,P=0.004)及最大室壁厚度(β=5.16,P=0.008)相关.结论 最大室壁厚度是预测HCM患者各期别左心室质量的有效参数.对于收缩功能保持的HCM患者,估测其左心室质量的最佳参数为左心室舒张末期容积指数和最大室壁厚度.%Objective To explore the predict factors of left ventricular mass (LVM) in hypertrophic cardiomyopathy (HCM). Methods Twenty-two patients with HCM and 20 normal volunteers underwent cardiac cine MR and delayed enhancement, LV functional parameters and delayed enhancement parameters were analyzed by Segment software. The functional parameters were indexed by body surface area, univariate and multivariate regression analysis were performed between LVM index and other parameters. Results The LVM index in HCM patients significantly exceeded that of control subjects (P<0. 001). On multivariate analysis, only maximum left ventricular wall thickness (β=7. 53, P = 0. 02) was associated with LVM index. In HCM patients with preserved systolic function, LV end-diastolic volume index (β=3. 68, P = 0. 004) and maximal LV wall thickness (β=5. 16, P = 0. 008) were correlated with LVM index. Conclusion In patients with HCM, maximum LV wall thickness has useful value to predict LVM. The optimum parameters to estimate LVM in HCM patients with preserved systolic function are LV end-diastolic volume index and maximal LV wall thickness.

  6. Genetics Home Reference: familial hypertrophic cardiomyopathy

    Science.gov (United States)

    ... develop potentially fatal heart failure, which may require heart transplantation. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic ... that muscles can contract. In the heart, regular contractions of cardiac muscle pump blood to the rest of the ...

  7. 妊娠合并肥厚型心肌病患者的临床特征分析%Analysis of clinical features of pregnant women with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    胡云华; 黄滔滔; 庄旭; 林建华

    2013-01-01

    Objective To discuss the clinical features of pregnant women with hypertrophic cardiomyopathy (HCM).Methods There were 28 patients with HCM who delivered in Renji hospital of Shanghai Jiaotong University from January 2000 to August 2012.Clinical data were analyzed,including diagnosis,cardiac functional grading,gestational weeks of delivery,delivery mode,birth weight,Apgar scores,etc.Results (1) Of all the 28 patients,14 (50%) were diaguosed before pregnancy and others (50%) were diagnosed during pregnancy.(2) Four cases were obstructive HCM (14%),3 with cardiac function grade Ⅰ and 1 with grade Ⅱ.Twenty four cases were non-obstructive HCM (86%),14 with cardiac function grade Ⅰ,9 with grade Ⅱ and 1 with grade Ⅳ.(3) Of all the 28 patients,4 had family history,18 (64%) had clinical symptoms or signs which occurred in 8-32 gestational weeks.Twenty-three cases had abnormal ECG (82%).Among them 21 had non-obstructive HCM (88%),with average interventricular septal thickness of(22 ± 3) mm.The other 2 patients had obstructive HCM,with average interventricular septal thickness of (23 ± 4) mm.7 patients (7/28,25 %) had mild-to-moderate pulmonary hypertension [6 with non-obstructive HCM (6/24,25%)],and 10 patients had abnormal myocardial enzyme spectrum or troponin levels [9 with non-obstructive HCM (9/24,38%)].(4) Among all the patients,only one had vaginal delivery and others received cesarean section.Twenty-two patients had term pregnancies and 6 had preterm birth.The average gestational weeks of delivery in non-obstructive HCM and obstructive HCM were (36.5 ± 2.5) and (38.5 ± 0.4) weeks,respectively.The average birth weight of neonates were (2684 ± 563) and (3164 ± 321) g,and Apgar scores were 9.9 and 10 (10 minutes) respectively.Patients transferred to NICU after delivery were 8 and 0.There was 1 maternal death(with nonobstructive HCM whose ejection fraction was only 26%) and no perinatal death.Conclusions More attention should be

  8. Comparing cardiac magnetic resonance with echocardiogram on diagnosis of apical hypertrophic cardiomyopathy%心尖肥厚型心肌病的MRI与超声心动图对比研究

    Institute of Scientific and Technical Information of China (English)

    袁思殊; 李志伟; 夏黎明

    2015-01-01

    AbrtractObjective:To discuss the character of cardiac magnetic resonance and echocardiogram findings of apical hypertrophic cardiomyopathy (AHCM), and evaluate the diagnostic value of CMR and echocardiogram in AHCM.Materials and Methods: Twenty-one patients (male 16, female 5) with AHCM underwent Cardiac Magnetic Resonance, echocardiogram, ECG and coronary angiography. Results:The cardiac magnetic resonance revealed apical hypertrophic in all the patients. Among them, 13 patients were pure form P-AHCM, 1 patient was pure form T-AHCM, 1 patient was mixed form P-AHCM, and 6 patients were mixed form T-AHCM. Magnetic resonance imaging showed “ace of spades” morphology of the left ventricle in all the T-AHCM patients. Four patients underwent myocardial contrast enhancement MR scanning: 3 patients presented LGE, 2 patients presented myocardial ischemia, and 2 patients presented myocardial infarction. Echocardiography provided correct diagnoses in 6/21 patients (28.6%), while in 10 patients echocardiographic results were normal. All of our patients showed electrocardiographic alterations of the ventricular repolarization: 14 patients (67.7%) with LV high voltage. Seventeen patients (80.9%) with giant negative T waves. Sixteen patients (76.2%) with a signiifcant descending ST segment. Four patients had arrhythmia in different degrees.Conclusions: MR has higher sensitivity in diagnosing AHCM than echocardiogram. The ECG is a helpful tool to screen AHCM. To the patients who is suspected of AHCM, cardiac magnetic resonance could make a deifnite diagnosis.%目的:分析心尖肥厚型心肌病(AHCM)的MRI与超声心动图影像征象,比较MRI与超声心动图对心尖肥厚型心肌病的诊断价值。材料与方法对21例心尖型肥厚型心肌病患者(男16例,女5例)行心脏MRI、超声心动图、心电图等检查。结果21例患者心脏MRI均提示心尖部心肌肥厚,单纯型P-AHCM 13例,单纯型T-AHCM 1例,混合型P-AHCM 1

  9. Clinical analysis of 21 cases of hypertrophic obstructive cardiomyopathy misdiagnosed as coronary heart disease and angina pectoris%21例肥厚梗阻型心肌病误诊为冠心病心绞痛的临床分析

    Institute of Scientific and Technical Information of China (English)

    周明刚

    2016-01-01

    Objective To study the hypertrophy cardiomyopathy obstruction type misdiagnosed as angina pectoris of coronary heart disease and identify key points. SelectionMethods From May 2011 to May 2015 were 21 cases of hypertrophic cardiomyopathy obstruction type misdiagnosed as angina, coronary heart disease patients, the clinical data were to research and analysis, find the misdiagnosis factors. Results After the misdiagnosis after drug response analysis to diagnose patients as hypertrophy cardiomyopathy obstruction type, and then to suit the medicine treatment, 21 patients were recovered, the cure rate is 100%.Conclusion The need for a detailed to identify the patient, distinguish different conditions may cause diseases, and the representation can help reduce the clinical misdiagnosis rate.%目的:探讨肥厚梗阻型心肌病误诊为冠心病心绞痛的原因及鉴别要点。方法:选取我院2011年5月到2015年5月间收治的21例肥厚梗阻型心肌病误诊为冠心病心绞痛患者,对其临床资料进行重新研究与分析,找寻误诊因素。结果:经误诊后用药反应分析后重新确诊患者为肥厚梗阻型心肌病,然后给予对症药物治疗后,21例患者均获得痊愈,治愈率达到100%。结论:需要对患者的病情进行细致鉴别,分清不同病症的表现形式与可能引发的疾病种类,有助于降低临床误诊率。

  10. Hypertrophic pachymeningitis.

    Science.gov (United States)

    Hahn, Lewis D; Fulbright, Robert; Baehring, Joachim M

    2016-08-15

    Hypertrophic Pachymeningitis (HP) denotes inflammation and thickening of the dura mater that can be idiopathic or secondary to a wide variety of conditions. Clinically, HP can present as debilitating headaches and cranial nerve defects but in other cases may be completely asymptomatic. We aimed to determine the relative incidence of different etiologies of HP and compare their associated imaging findings. Additionally, we sought to compare the clinical features of the underlying syndromes. We retrospectively examined twenty-two consecutive cases of HP seen in a single practitioner neurology practice over a ten-year time period. The most common etiologies were idiopathic HP and neurosarcoidosis. No imaging features were completely specific to any etiology. Nonetheless, idiopathic HP typically demonstrated diffuse regular enhancement whereas neurosarcoidosis was more likely to display a nodular enhancement pattern. Headache and cranial neuropathies were the most common clinical presentation. HP symptoms were often responsive to steroids but complete responses were rare. HP is a diagnostic challenge without specific findings on minimally or non-invasive diagnostic studies. Biopsy is often required and serves as the basis for effective therapy. PMID:27423604

  11. The association between echocardiogram characteristics and pulmonary hypertension in hypertrophic cardiomyopathy%肥厚型心肌病的超声心动图征象与肺动脉高压关系的探讨

    Institute of Scientific and Technical Information of China (English)

    梅靖; 龚红萍; 倪雪松; 吴进

    2012-01-01

    Objective:To determine the association hetween echocardiogram characteristics and pulmonary hypertension in hypertrophic cardiomyopathy. Methods: Ninety-two patients were classified into three groups based on RVSP, the three groups were comparable with regards to various kinds of echocardiogram characteristics,and the relation between various kinds of features and RVSP were analysed by univariate analysis and multivariable analysis. Results: ① In our study cohort, PH( RVSP ≥35 mmHg)was noted in 34%. The three groups were comparable with regards to gender,proportion of NYHA class of Ⅲ/Ⅳ and symptoms. Group 3 patients were older( P =0.0014) and had lower exercise capacity ( P = 0. 018) compared to the other 2 groups. ②Group 3 patients had a larger LA volume( P =0. 025),higher resting LVOT gradient( P =0.0001)and higher E/e' ratio( P =0. 001). The other echocardiography variables were not significant different. ?Except for a difference in global RV-ESR( P =0. 01) ,all deformation variables were similar across the 3 groups for the ventricular septum and RV free wall suggesting a similar myopathic process across the groups. (4) Univariate analysis showed that age (P< 0. 001) , LA volume ( P = 0.0067), resting LVOT gradient ( P < 0. 001), LV E/e' ratio ( P < 0. 001) and METs ( P =0.0021)were associated with RVSP. Multivariable analysis including these features indicated that only LA volume(coefficient=-1. 575, P<0. 001) and resting LVOT gradient(-coefficient = 0. 425, P =0. 001)were independently associated with RVSP. ?Receiver operating characteristic analysis demonstrated that resting LVOT gradient had 73% sensitivity and 69% specificity to predict RVSPJ3"-35 mmHg with an area under the curve of 0. 87. Conclusion: Age,LA volume,LV E/e' ratio,resting LVOT gradient and METs are correlated with RVSP in patients with HCM. Multivariate analysis demonstrated that LA volume and resting LVOT gradient were independently associated with RVSP in HCM.%目的:探讨肥

  12. Cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Wiese, Signe; Hove, Jens D; Bendtsen, Flemming;

    2014-01-01

    biomarkers could improve the diagnostic assessm+ent. Cirrhotic cardiomyopathy contributes to various complications in cirrhosis, especially as an important factor in the development of hepatic nephropathy. Additionally, cirrhotic cardiomyopathy seems to be associated with the development of heart failure...... in relation to invasive procedures such as shunt insertion and liver transplantation. Current pharmacological treatment is nonspecific and directed towards left ventricular failure, and liver transplantation is currently the only proven treatment with specific effect on cirrhotic cardiomyopathy....

  13. Molecular genetics and pathogenesis of cardiomyopathy.

    Science.gov (United States)

    Kimura, Akinori

    2016-01-01

    Cardiomyopathy is defined as a disease of functional impairment in the cardiac muscle and its etiology includes both extrinsic and intrinsic factors. Cardiomyopathy caused by the intrinsic factors is called as primary cardiomyopathy of which two major clinical phenotypes are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM). Genetic approaches have revealed the disease genes for hereditary primary cardiomyopathy and functional studies have demonstrated that characteristic functional alterations induced by the disease-associated mutations are closely related to the clinical types, such that increased and decreased Ca(2+) sensitivities of muscle contraction are associated with HCM and DCM, respectively. In addition, recent studies have suggested that mutations in the Z-disc components found in HCM and DCM may result in increased and decreased stiffness of sarcomere, respectively. Moreover, functional analysis of mutations in the other components of cardiac muscle have suggested that the altered response to metabolic stresses is associated with cardiomyopathy, further indicating the heterogeneity in the etiology and pathogenesis of cardiomyopathy. PMID:26178429

  14. Clinical Characteristics and Treatment of Cardiomyopathies in Children.

    Science.gov (United States)

    Price, Jack F; Jeewa, Aamir; Denfield, Susan W

    2016-01-01

    Cardiomyopathies are diseases of the heart muscle, a term introduced in 1957 to identify a group of myocardial diseases not attributable to coronary artery disease. The definition has since been modified to refer to structural and or functional abnormalities of the myocardium where other known causes of myocardial dysfunction, such as systemic hypertension, valvular disease and ischemic heart disease, have been excluded. In this review, we discuss the pathophysiology, clinical assessment and therapeutic strategies for hypertrophic, dilated and hypertrophic cardiomyopathies, with a particular focus on aspects unique to children.

  15. Síndrome Leopard e miocardiopatia hipertrófica: uma associação relacionada à morte súbita Síndrome leopard y miocardiopatía hipertrófica: una asociación relacionada a la muerte súbita Leopard syndrome and hypertrophic cardiomyopathy: an association related to sudden death

    Directory of Open Access Journals (Sweden)

    Murillo de Oliveira Antunes

    2009-06-01

    Full Text Available Relatamos a rara associação entre síndrome Leopard e miocardiopatia hipertrófica em mulher de 27 anos, pouco sintomática, que veio para estratificação e prevenção de risco de morte súbita. Portadora de uma síndrome rara, que se manifesta com pequenas máculas disseminadas pelo corpo, além de alterações oculares, genitais, cardíacas e de crescimento. A associação de miocardiopatia hipertrófica com fatores de risco de morte súbita determinou a indicação do implante de cardiodesfibrilador (CDI para prevenção primária.Relatamos la rara asociación entre síndrome Leopard y miocardiopatía hipertrófica en una mujer de 27 años, poco sintomática, que vino para estratificación y prevención de riesgo de muerte súbita. Portadora de un síndrome raro, que se manifiesta con pequeñas manchas diseminadas por el cuerpo, además de alteraciones oculares, genitales, cardíacas y de crecimiento. La asociación de miocardiopatía hipertrófica con factores de riesgo de muerte súbita determinó la indicación del implante de cardiodesfibrilador (CDI para prevención primaria.We describe an uncommon association between Leopard syndrome and hypertrophic cardiomyopathy in a 27-year-old woman, who was little symptomatic and came for sudden death risk stratification and prevention. She has a rare syndrome, whose symptoms are maculae over the body and abnormalities in eyes, genital organs, heart and in growth. Association of hypertrophic cardiomyopathy with sudden death risk factors determined the implantation of cardioverter-defibrillator (ICD for primary prevention.

  16. Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Ahmad, Shamim; Ahluwalia, Tarun Veer Singh;

    2009-01-01

    Both idiopathic restrictive cardiomyopathy (IRCM) and hypertrophic cardiomyopathy (HCM) are part of the same disease spectrum and are due to sarcomeric gene mutations. A patient with restrictive physiology without left ventricular hypertrophy (LVH) would be diagnosed as IRCM, while one with LVH...

  17. Treatment of depression in an adolescent with cardiomyopathy and arrhythmia.

    Science.gov (United States)

    Tanidir, Canan; Tanidir, Ibrahim C; Tuzcu, Volkan

    2015-10-01

    Patients with cardiomyopathy have a higher incidence of mood and anxiety disorders, resulting in greater probability for hospitalisation and increased risk for arrhythmia and death. We report a case of a 16-year-old boy with Danon disease, Wolff-Parkinson-White syndrome, and hypertrophic cardiomyopathy, who later developed depression and significant weight loss. The patient was successfully treated for his anxiety and depression with mirtazapine without any adverse cardiac effects. PMID:25400066

  18. Novel Phenotype–Genotype Correlations of Restrictive Cardiomyopathy With Myosin-Binding Protein C (MYBPC3) Gene Mutations Tested by Next-Generation Sequencing

    OpenAIRE

    Wu, Wei; Lu, Chao-Xia; Wang, Yi-Ning; Liu, Fang; Chen, Wei; Liu, Yong-Tai; Han, Ye-Chen; Cao, Jian; Zhang, Shu-Yang; Zhang, Xue

    2015-01-01

    Background MYBPC3 dysfunctions have been proven to induce dilated cardiomyopathy, hypertrophic cardiomyopathy, and/or left ventricular noncompaction; however, the genotype–phenotype correlation between MYBPC3 and restrictive cardiomyopathy (RCM) has not been established. The newly developed next-generation sequencing method is capable of broad genomic DNA sequencing with high throughput and can help explore novel correlations between genetic variants and cardiomyopathies. Methods and Results ...

  19. Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment.

    Science.gov (United States)

    Lupsa, Beatrice C; Sachdev, Vandana; Lungu, Andreea O; Rosing, Douglas R; Gorden, Phillip

    2010-07-01

    Lipodystrophy is a rare disorder characterized by loss of adipose tissue and low leptin levels. This condition is characterized by severe dyslipidemia, insulin resistance, diabetes mellitus, and steatohepatitis. Another phenotypic feature that occurs with considerable frequency in generalized lipodystrophy is cardiomyopathy. We report here the cardiac findings in a cohort of patients with generalized congenital and acquired lipodystrophy, and present a literature review of the cardiac findings in patients with generalized lipodystrophy. We studied 44 patients with generalized congenital and acquired lipodystrophy, most of them enrolled in a clinical trial of leptin therapy. Patients underwent electrocardiograms and transthoracic echocardiograms to evaluate their cardiac status. We followed these patients for an extended time period, some of them up to 8 years. Evaluation of our cohort of patients with generalized lipodystrophy shows that cardiomyopathy is a frequent finding in this population. Most of our patients had hypertrophic cardiomyopathy, and only a small number had features of dilated cardiomyopathy. Hypertrophic cardiomyopathy was more frequent in patients with seipin mutation, a finding consistent with the literature. The underlying mechanism for cardiomyopathy in lipodystrophy is not clear. Extreme insulin resistance and the possibility of a "lipotoxic cardiomyopathy" should be entertained as possible explanations.

  20. MicroRNA profiling in early hypertrophic growth of the left ventricle in rats

    DEFF Research Database (Denmark)

    Busk, Peter K.; Cirera, Susanna

    2010-01-01

    Pressure overload induces hypertrophic growth of the heart and in the long term this condition can lead to cardiomyopathy and heart failure. Several miRNAs are upregulated in heart failure. However, it is not clear, which miRNAs (if any) are induced during the early hypertrophic growth phase....... To investigate whether the upregulation of miRNAs is an integrated part of hypertrophic growth or an effect of cardiac disease we investigated miRNA expression in early hypertrophic development. Hypertrophy was induced by banding of the ascending aorta of male rats. After 14 days, the heart left ventricle weight...... relative to body weight of animals with aortic banding had increased 65% compared to matched control rats. Furthermore, RNA was extracted from left ventricles and reverse transcription qPCR showed that expression of the hypertrophic markers atrial natriuretic peptide and brain natriuretic peptide...

  1. [Peripartum cardiomyopathy].

    Science.gov (United States)

    Mouquet, Frédéric; Bouabdallaoui, Nadia

    2015-01-01

    The peripartum cardiomyopathy is a rare form of dilated cardiomyopathy resulting from alteration of angiogenesis toward the end of pregnancy. The diagnosis is based on the association of clinical heart failure and systolic dysfunction assessed by echocardiography or magnetic resonance imaging. Diagnoses to rule out are myocardial infarction, amniotic liquid embolism, myocarditis, inherited cardiomyopathy, and history of treatment by anthracycline. Risk factors are advance maternal age (>30), multiparity, twin pregnancy, African origin, obesity, preeclampsia, gestational hypertension, and prolonged tocolytic therapy. Treatment of acute phase is identical to usual treatment of acute systolic heart failure. After delivery, VKA treatment should be discussed in case of systolic function pregnancy should be discouraged, especially if systolic function did not recover.

  2. [Peripartum cardiomyopathy].

    Science.gov (United States)

    Mouquet, Frédéric; Bouabdallaoui, Nadia

    2015-01-01

    The peripartum cardiomyopathy is a rare form of dilated cardiomyopathy resulting from alteration of angiogenesis toward the end of pregnancy. The diagnosis is based on the association of clinical heart failure and systolic dysfunction assessed by echocardiography or magnetic resonance imaging. Diagnoses to rule out are myocardial infarction, amniotic liquid embolism, myocarditis, inherited cardiomyopathy, and history of treatment by anthracycline. Risk factors are advance maternal age (>30), multiparity, twin pregnancy, African origin, obesity, preeclampsia, gestational hypertension, and prolonged tocolytic therapy. Treatment of acute phase is identical to usual treatment of acute systolic heart failure. After delivery, VKA treatment should be discussed in case of systolic function <25% because of higher risk of thrombus. A specific treatment by bromocriptine can be initiated on a case-by-case basis. Complete recovery of systolic function is observed in 50% of cases. The mortality risk is low. Subsequent pregnancy should be discouraged, especially if systolic function did not recover. PMID:26160284

  3. Myocardial systolic function of local left ventricle in patients with hypertrophic cardiomyopathy evaluated bystrain and strain rate imaging%超声应变和应变率显像技术对肥厚型心肌病患者左室收缩功能的评价

    Institute of Scientific and Technical Information of China (English)

    刘磊; 刘源; 吴美龄

    2011-01-01

    目的 应用超声应变及应变率显像技术评价肥厚型心肌病(HCM)患者左室局部心肌收缩功能。方法 选取38例HCM患者作为观察组,选取健康志愿者36例作为对照组,分别进行组织多普勒超声检查,应用应变和应变率显像技术对局部心肌进行定量分析和评价。结果 观察组患者左房内径、左室内径、左室收缩期末内径、室间隔厚度、左室后壁厚度均明显增加,左室射血分数明显减少(均P<0.05)。观察组患者左室下壁、侧壁、后壁、前壁及室间隔心肌收缩期峰值应变、应变率均明显低于对照组(均P<0.05)。结论 应变和应变率显像技术能准确反映HCM患者左心室局部心肌收缩功能减退及特性的改变。%Objective To evaluate regional myocardial systolic function in patients with hypertrophic cardiomyopathy(HCM) by strain and strain rate imaging.Methods 38 patients with HCM(observe group) and 36 healthy volunteers(control group) were involved in this study.All subjects were received conventional 2D-Color Doppler echocardiography and Color Doppler myocardial image(CDMI) ,then analyzed the regional myocardial function by strain and strain rate imaging.Results Comparwed with the control group, left atrial diameters (LAD), left ventricular diameters (LVD), left ventricular end-systolic dimension (LVDs), interventricular ventricular septal (IVS) and left ventricular posterior wall(LVPW) were significantly increased in patients of observe group (all P < 0.05), but left ventricular ejection fraction(LVEF) was decreased(P <0.05).Patients with HCM showed regional longitudinal peak systolic myocardial deformation properties lower than those of counterparts at inferior, lateral, posterior, frontal and septum waLl of left ventricular(all P < 0.05).Conclusion Hypertrophic cardiomyopathy was associated with significant reduction in systolic function of left ventricle and strain and strain rote imaging was

  4. 临床前肥厚型心肌病的临床表现谱:肌小节基因突变携带者的特征%Clinical spectrum of preclinical hypertrophic cardiomyopathy: characterizing carriers of sarcomere gene mutation

    Institute of Scientific and Technical Information of China (English)

    Carolyn Y Ho

    2009-01-01

    Hypertrophic cardiomyopathy (HCM) is caused by dominant mutations in sarcomere genes. The diagnosis of HCM is usually established by identifying unexplained left ventricular hypertrophy (LVH) on cardiac imaging studies; however, LVH is not an invariable feature of disease. The expression of LVH is highly age-dependent, and LV wall thickness is frequently normal during childhood. Overt development of hypertrophy, and the ability to make a clinical diagnosis, does not typically occur until adolescence or later. Genetic testing allows identification of family members who have inherited the pathogenic sarcomere mutation ( G + ) before the emergence of clinical manifestations ( LVH - ). As such,a new and important subset of individuals with preclinical HCM ( G +/LVH - ) can be identified early in life, before a clinical diagnosis can be made. Our evaluation of preclinieal HCM has indicated that although there are no distinguishing morphologic features of early disease, there is evidence of myocardial dysfunction prior to the development of LVH.Subtle impairment of diastolic function is detectable in otherwise healthy sarcomere mutation carriers and can difierentiate these family members from those who did not inherit the mutation.In contrast,systolic function appears relatively preserved in preclinical HCM,but impaired in oven disease.This preliminary finding suggests that both the sarcomere mutation and the characteristic changes in myocardial architecture(LVH,fibrosis and disarray)are required to perturb force generation.By studying this intriguing preclinical cohort,we can better understand the early stages of disease pathogenesis and potentially develop therapy to alter the clinical expression of sarcomere mutations.

  5. Cirrhotic cardiomyopathy.

    Science.gov (United States)

    Milani, A; Zaccaria, R; Bombardieri, G; Gasbarrini, A; Pola, P

    2007-06-01

    Decompensated liver cirrhosis is characterized by a peripheral vasodilation with a low-resistance hyperdynamic circulation. The sustained increase of cardiac work load associated with such a condition may result in an inconstant and often subclinical series of heart abnormalities, constituting a new clinical entity known as "cirrhotic cardiomyopathy". Cirrhotic cardiomyopathy is variably associated with baseline increase in cardiac output, defective myocardial contractility and lowered systo-diastolic response to inotropic and chronotropic stimuli, down-regulated beta-adrenergic function, slight histo-morphological changes, and impaired electric "recovery" ability of ventricular myocardium. Cirrhotic cardiomyopathy is usually clinically latent or mild, likely because the peripheral vasodilation significantly reduces the left ventricle after-load, thus actually "auto-treating" the patient and masking any severe manifestation of heart failure. In cirrhotic patients, the presence of cirrhotic cardiomyopathy may become unmasked and clinically evident by certain treatment interventions that increase the effective blood volume and cardiac pre-load, including surgical or transjugular intrahepatic porto-systemic shunts, peritoneo-venous shunts (LeVeen) and orthotopic liver transplantation. Under these circumstances, an often transient overt congestive heart failure may develop, with increased cardiac output as well as right atrial, pulmonary artery and capillary wedge pressures. PMID:17383244

  6. 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...

  7. Inherited cardiomyopathies caused by troponin mutations

    Institute of Scientific and Technical Information of China (English)

    Qun-Wei Lu; Xiao-Yan Wu; Sachio Morimoto

    2013-01-01

    Genetic investigations of cardiomyopathy in the recent two decades have revealed a large number of mutations in the genes encoding sarcomeric proteins as a cause of inherited hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), or restrictive cardiomyopathy (RCM). Most functional analyses of the effects of mutations on cardiac muscle contraction have revealed significant changes in the Ca2+-regulatory mechanism, in which cardiac troponin (cTn) plays important structural and functional roles as a key regulatory protein. Over a hundred mutations have been identified in all three subunits of cTn, i.e., cardiac troponins T, I, and C. Recent studies on cTn mutations have provided plenty of evidence that HCM- and RCM-linked mutations increase cardiac myofilament Ca2+ sensitivity, while DCM-linked mutations decrease it. This review focuses on the functional consequences of mutations found in cTn in terms of cardiac myofilament Ca2+ sensitivity, ATPase activity, force generation, and cardiac troponin I phosphorylation, to understand potential molecular and cellular pathogenic mechanisms of the three types of inherited cardiomyopathy.

  8. Alcoholic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Gonzalo; Guzzo-Merello; Marta; Cobo-Marcos; Maria; Gallego-Delgado; Pablo; Garcia-Pavia

    2014-01-01

    Alcohol is the most frequently consumed toxic substance in the world. Low to moderate daily intake of alcohol has been shown to have beneficial effects on the cardiovascular system. In contrast, exposure to high levels of alcohol for a long period could lead to progressive cardiac dysfunction and heart failure. Cardiac dysfunction associated with chronic and excessive alcohol intake is a specific cardiac disease known as alcoholic cardiomyopathy(ACM). In spite of its clinical importance, data on ACM and how alcohol damages the heart are limited. In this review, we evaluate available evidence linking excessive alcohol consumption with heart failure and dilated cardiomyopathy. Additionally, we discuss the clinical presentation, prognosis and treatment of ACM.

  9. Takotsubo cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Sénior, Juan Manuel

    2015-04-01

    Full Text Available Takotsubo cardiomyopathy or stress-induced cardiomyopathy is often diagnosed as an acute coronary syndrome in postmenopausal women, because its clinical presentation may mimic an acute myocardial infarction: anginal chest pain, changes in the ST segment and T wave in precordial leads and elevated cardiac biomarkers of necrosis. It is characterized by systolic dysfunction with transient ballooning of the apical and middle portions of the left ventricle in the absence of significant coronary disease. Prognosis is good and complete recovery occurs in days to weeks. We report three cases of postmenopausal women with initial diagnosis of acute myocardial infarction; no significant coronary lesions were found in the coronary angiography; apical ballooning, characteristic of this syndrome, was observed on left ventriculography. On follow-up, the three patients had complete recovery of systolic function at six weeks.

  10. 心尖肥厚型心肌病的临床特点及预后分析%Analysis of the clinical characteristics and prognosis of the apical hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    李胜利

    2014-01-01

    Objective To explore the clinical characteristics and prognosis of apical hypertrophic cardiomy -opathy (AHCM).Methods A retrospective analysis was performed on the clinical data of 34 patients with AHCM, the clinical characteristic , ECG, imageology data and the cardiovascular morbidity were counted and analyzed . Results There was no specificity on the clinical characteristics of the patients with AHCM ,the high voltage of the left ventricular and the huge inverted T wave of the left precordial leads came into the characteristic change for the ECG,there were 21 patients of the total 34 patients were made a definite diagnosis after examined by the ultrasonic cardiogram,13 patients of them were made a definite diagnosis after examined by MRI .During the following-up,there were 4 patients occurred angiocardiopathy (the morbidity was 11.8%).The thickness of apex,apex cordis and poste-rior wall of the left ventricle examined during the last follow-up had significant differences compared with that during the first diagnosis(t=-3.73,-3.908,all P0.05). Conclusion AHCM has the benign prognosis effect , but the clinical misdiagnosis rate is high , clinicians should enhance their understanding level on the disease ,the characteristic ECG change ,ultrasonic cardiogram and MRI check can help to make a definite diagnosis .%目的:探讨心尖肥厚型心肌病( AHCM )的临床特点及预后。方法回顾性分析34例AHCM患者的临床资料,分析其临床特点、ECG及影像学资料、心血管事件发生率。结果心尖肥厚型心肌病临床表现无特异性,左室高电压及左胸前导联巨大倒置T波为ECG特征性改变;34例中经超声心动图检查确诊21例,MRI检查确诊13例;随访期间发生心血管事件4例(11.8%),末次随诊左室心尖部厚度、左室心尖厚度/左心室后壁厚度与首次诊断时比较,差异有统计学意义(t=-3.73、-3.908,均P<0.05);左心室射血分数、室间

  11. Hypertrophic discoid lupus erythematosus.

    Science.gov (United States)

    Farley-Loftus, Rachel; Elmariah, Sarina B; Ralston, Jonathan; Kamino, Hideko; Franks, Andrew G

    2010-11-15

    Hypertrophic discoid lupus erythematosus is a distinct form of chronic cutaneous (discoid) lupus, which is characterized by hyperkeratotic plaques that typically are observed over the face, arms, and upper trunk. We present the case of a 43-year-old man with verrucous plaques that were distributed symmetrically over the face, who initially was treated with oral antibiotics and topical glucocorticoids for acne vulgaris. A biopsy specimen confirmed the diagnosis of hypertrophic discoid lupus erythematosus. The clinical and histopathologic features of this clinical variant are reviewed.

  12. 心脏核磁共振成像技术在肥厚型心肌病中的应用现状及最新进展%The current and emerging role of cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Martin S. Maron; 李少华

    2009-01-01

    Hypertrophic cardiomyopathy(HCM)is the most common genetic cardiomyopathy and the leading cause of sudden death in young people and a major cause of heart failure symptoms at any age.Due to its genetic etiology,there is substantial heterogeneity in the phenotypic expression and clinical course of patients with HCM.Traditionally,two-dimensional echocardiography has been the easiest and reliable technique for establishing a diagnosis of HCM.However,cardiovascular magnetic resonance(CMR)has emerged as a novel,3-dimensional tomographic imaging technique,which provides high spatial and temporal resolution images of the heart (not limited by thoracic or pulmonary parenchyma),in any plane and without ionizing radiation.As a result,CMR is particularly well suited to provide detailed characterization of the HCM phenotype,including a precise assessment of the location and distribution of LV wall thickening(as well as other myocardial structures such as the right ventricle and papillary muscles).In this regard,CMR has been demonstrated to provide a diagnosis of HCM in cases where the echocardiogam was non-diagnostic.Furthermore,CMR provides an accurate assessment of total LV mass which is a more robust marker of hypertrophy,with potential implications for risk stratification.In addition,with the intravenous administration of gadolinium,first-pass perfusion sequences can identify myocardial perfusion abnormalities,while late gadolinium enhancement sequences can identify areas of myocardial fibrosis/scarring.Although the clinical implications of late gadolinium enhancement in HCM are still uncertain this information may,in the near-future,have important implications with regard to identifying HCM patients at high risk of sudden death and progressive heart failure,including evolution into the end-stage phase of HCM.Therefore,at present,CMR provides important information impacting on diagnosis and clinical management strategies in patients with HCM and will likely have an

  13. [Cardiomyopathies and pregnancy--how often, when to decide to terminate?].

    Science.gov (United States)

    Nowalany-Kozielska, Ewa

    2015-01-01

    Cardiomyopathies are a small percentage of heart disease in pregnant women, but usually cause severe complications. It is not know the exact incidence of cardiomyopathy associated with pregnancy in Europe. In these patients, there is a higher probability of death due to changes in hemodynamic, metabolic and hemostatic that occur in pregnancy. Pregnant mortality is 2.4% vs. 0.007%--in the normal population. The most common cause of severe maternal complications is peripartum cardiomyopathy (PPCM). In dilated cardiomyopathy (DCM) and restrictive (RCM) is usually observed significant clinical deterioration during pregnancy. On the other hand, in patients with hypertrophic cardiomyopathy (HCM), pregnancy and childbirth are often associated with a low risk of complications. There is a greater risk in women presenting symptoms before and on pregnancy and in women with large inrtaventricular and subaortic pressure gradient. There are only a few case reports of pregnancy in patients with rare storage diseases and infiltrative phenotype of hypertrophic cardiomyopathy. For these patients the pregnancy is contraindicated. In patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is sometimes the severity of arrhythmia in the third trimester of pregnancy, and childbirth (natural or cesarean section) is usually safe. Remember to informing women with various cardiomyopathies both the risks of pregnancy and about the possibility of transferring the disease to offspring. Contraception should be advised in many cases. PMID:26455023

  14. Incidence of dilated cardiomyopathy

    OpenAIRE

    Abelmann, Walter H.

    1985-01-01

    Full reliable data on the incidence and prevalence of dilated cardiomyopathy are not available. In the United States, at least 0.7% of cardiac deaths are attributable to cardiomyopathy. Dilated cardiomyopathy probably contributes the great majority of these cases. The mortality rate for cardiomyopathy in males is twice that of females, and for blacks it is 2.4 times that of whites. Cardiomyopathy was diagnosed in 0.67% of patients discharged from hospitals in 1979 with diagnoses of disease of...

  15. 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...

  16. X-linked cardiomyopathy is heterogeneous

    Energy Technology Data Exchange (ETDEWEB)

    Wilson, M.J.; Sillence, D.O.; Mulley, J.C. [and others

    1994-09-01

    Two major loci of X-linked cardiomyopathy have been mapped by linkage analysis. The gene for X-linked dilated cardiomyopathy (XLCM) is mapped to the dystrophin locus at Xp21, while Barth syndrome has been localised to distal Xq28. XLCM usually presents in juvenile males with no skeletal disease but decreased dystrophin in cardiac muscle. Barth syndrome most often presents in infants and is characterized by skeletal myopathy, short stature and neutropenia in association with cardiomyopathy of variable severity. Prior to carrier or prenatal diagnosis in a family, delineation of the cardiomyopathy locus involved is essential. We report the linkage mapping of a large kindred in which several male infants have died with hypertrophic cardiomyopathy. There is a family history of unexplained death of infant males less than 6 months old over 4 generations. Features of Barth syndrome such as short stature, skeletal myopathy and neutropenia have not been observed. Genotyping at 10 marker loci in Xq28 has revealed significant pairwise lod scores with the cardiomyopathy phenotype at DXS52 (Z=2.21 at {theta}=0.0), at markers p26 and p39 near DXS15 (Z=2.30 at {theta}=0.0) and at F8C (Z=2.24 at {theta}=0.0). A recombinant detected with DXS296 defines the proximal limit to the localization. No recombinants were detected at any of the loci distal to DXS296. The most distal marker in Xq28, DXS1108, is within 500 kb of the telomere. As the gene in this family is localized to Xq28, it is possible that this disorder is an allelic variant at the Barth syndrome locus.

  17. Arrhythmogenic cardiomyopathy.

    Science.gov (United States)

    Pilichou, Kalliopi; Thiene, Gaetano; Bauce, Barbara; Rigato, Ilaria; Lazzarini, Elisabetta; Migliore, Federico; Perazzolo Marra, Martina; Rizzo, Stefania; Zorzi, Alessandro; Daliento, Luciano; Corrado, Domenico; Basso, Cristina

    2016-01-01

    Arrhythmogenic cardiomyopathy (AC) is a heart muscle disease clinically characterized by life-threatening ventricular arrhythmias and pathologically by an acquired and progressive dystrophy of the ventricular myocardium with fibro-fatty replacement. Due to an estimated prevalence of 1:2000-1:5000, AC is listed among rare diseases. A familial background consistent with an autosomal-dominant trait of inheritance is present in most of AC patients; recessive variants have also been reported, either or not associated with palmoplantar keratoderma and woolly hair. AC-causing genes mostly encode major components of the cardiac desmosome and up to 50% of AC probands harbor mutations in one of them. Mutations in non-desmosomal genes have been also described in a minority of AC patients, predisposing to the same or an overlapping disease phenotype. Compound/digenic heterozygosity was identified in up to 25% of AC-causing desmosomal gene mutation carriers, in part explaining the phenotypic variability. Abnormal trafficking of intercellular proteins to the intercalated discs of cardiomyocytes and Wnt/beta catenin and Hippo signaling pathways have been implicated in disease pathogenesis.AC is a major cause of sudden death in the young and in athletes. The clinical picture may include a sub-clinical phase; an overt electrical disorder; and right ventricular or biventricular pump failure. Ventricular fibrillation can occur at any stage. Genotype-phenotype correlation studies led to identify biventricular and dominant left ventricular variants, thus supporting the use of the broader term AC.Since there is no "gold standard" to reach the diagnosis of AC, multiple categories of diagnostic information have been combined and the criteria recently updated, to improve diagnostic sensitivity while maintaining specificity. Among diagnostic tools, contrast enhanced cardiac magnetic resonance is playing a major role in detecting left dominant forms of AC, even preceding morpho

  18. Role of hepatitis C virus in myocarditis and cardiomyopathies

    Institute of Scientific and Technical Information of China (English)

    Akira Matsumori

    2004-01-01

    Recent nationwide clinico-epidemiological surveys in Japan showed that the occurrence of cardiomyopathies was most frequently seen in the age of sixties, and that cardiomyopathies are important causes of heart failure in the elderly. Viral infection was conventionally considered to cause myocarditis, which resulted in the development of dilated cardiomyopathy. Recent studies suggest that hepatitis C virus (HCV) is involved in the development of dilated cardiomyopathy, hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy in addition to myocarditis. Furthermore, left ventricular aneurysm represents the same morbid state not only after myocardial infarction but also after myocarditis. There were wide variations in the frequency of detection of HCV genomes in cardiomyopathy in different regions and in different populations. Major histocompatibility complex class Ⅱ genes may play a role in the susceptibility to HCV infection, and may influence the development of different phenotypes of cardiomyopathy. If in fact the myocardial damage is caused by HCV, it might be expected that interferon (IFN) administration would be useful for its treatment. Hepatitis patients receiving IFN treatment for hepatitis were screened by thallium myocardial scintigraphy, and an abnormality was discovered in half of the patients. Treatment with IFN resulted in a disappearance of the image abnormality. It has thus been suggested that mild myocarditis and myocardial damage may be cured with IFN. We have recently found that high concentrations of circulating cardiac troponin T are a specific marker of cardiac involvement in HCV infection. By measuring cardiac troponin T in patients with HCV infection, the prevalence of cardiac involvement in HCV infection will be clarified. We are proposing a collaborative work on a global network on myocarditis/cardiomyopathies due to HCV infection. (J Geriatr Cardiol 2004;1(2):83-89. )

  19. Children's Cardiomyopathy Foundation

    Science.gov (United States)

    Search The Children's Cardiomyopathy Foundation (CCF) is a national, non-profit organization focused on pediatric cardiomyopathy, a chronic disease of the heart muscle. CCF is dedicated to accelerating the search for ...

  20. Association between delayed enhancement on cardiac magnetic resonance imaging and arrhythmia in patients with hypertrophic cardiomyopathy%肥厚型心肌病延迟增强磁共振成像与心律失常的相关性

    Institute of Scientific and Technical Information of China (English)

    汪晶; 孔祥泉; 徐海波; 周国锋; 刘芳; 石浩军; 刘定西

    2010-01-01

    Objective To observe the association between myocardial fibrosis,detected by delayed-enhancement(DE) cardiac magnetic resonance imaging (MRI) and arrhythmia in patients with hypertrophic cardiomyopathy (HCM). Methods Forty-eight untreated HCM patients who underwent Cine MR, DE-MRI,24 h ambulatory Holter electrocardiogram and ECG examinations were recruited. Extent of myocardial fibrosis (fibrosis mass/total LV mass) was assessed using DE imaging. Association between arrhythmias including premature ventricular complexes ( PVCS ≥ 200 ), supra-ventricular tachycardia ( SVT ), non-sustained ventricular tachycardia (NSVT), atrio-ventricular block (AVB) and intra-ventricular block (IVB) detected by Holter monitoring and ECG with regard to delayed enhancement (DE) on contrast enhanced CMR was analyzed. Results Myocardial fibrosis was detected in 35 patients. Incidence of arrhythmia was significantly higher in patients with DE than in patients without DE ( P < 0. 05 ). Extent of myocardial fibrosis was significantly associated with the QRS duration ( r = 0. 33, P < 0. 001 ). Conclusion Myocardial fibrosis detected by DE-CMR was associated with arrhythmia in patients with HCM. DE-CMR might be helpful to detect high-risk HCM patients prone to arrhythmia.%目的 探讨肥厚型心肌病延迟增强磁共振成像(MRI)显示的心肌纤维化与心律失常的相关性.方法 对48例未经治疗的肥厚型心肌病患者进行了MRI心功能分析、钆喷替酸葡甲胺(Gd-DTPA)延迟增强MRI、常规心电图和24 b动态心电图检查.分别探讨延迟增强MRI与频发室性期前收缩(PVCS总数≥200个)、阵发性室上性心动过速(SVT)、非持续性室性心动速(NSVT)、房室传导阻滞(AVB)、室内传导阻滞(IVB)之间的关系.计算延迟强化心肌质量、延迟强化心肌质量百分比,并分析其与24 h内PVCS、SVT和NSVT总数,传导阻滞(PR间期、QRS时限)间的相关性.描述肥厚型心肌病延迟强化

  1. E/E'对肥厚型心肌病患者药物治疗前后左室舒张功能的评价%Evaluation of E/E' on left ventricular diastolic function affected by drug-treatment in the patients with hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    阚丽丽; 安丰双

    2011-01-01

    目的 探讨二尖瓣舒张早期峰值速度E与瓣环舒张早期峰值速度E′的比值(E/E′)对药物治疗前后肥厚型心肌病(HCM)患者左室舒张功能评价的价值.方法 采用脉冲波多普勒显像技术测量HCM患者的二尖瓣血流频谱和组织多普勒血流显像技术测量二尖瓣环(TDI)频谱,并计算E/E′值,进行药物治疗前后比较.结果 与正常对照组相比,HCM患者舒张早期峰值速度显著减低,舒张晚期峰值速度显著增高,舒张早期与舒张晚期峰值速度的比值显著减低,E/E′比值显著增高,且E/E′>15的发生率最高;口服美托洛尔缓释片和培哚普利治疗1年后,左室流出道压力和E′/A′明显好转(P<0.05);口服美托洛尔缓释片治疗1年时E/E′显著减低(P<0.05),口服美托洛尔缓释片联合培哚普利治疗6个月时E/E′已明显减低(P<0.05),1年时进一步改善(P<0.05).结论 脉冲波多普勒技术测定二尖瓣血流频谱舒张早期峰值速度和TDI技术测定的二尖瓣环舒张早期峰值速度的比值对评价药物治疗前后肥厚型心肌病患者左室舒张功能具有重要的临床应用价值.%Objective To detect left ventricular function in the patients with hypertrophic cardiomyopathy (HCM) before and after the drug administration by the ratios of E velocity measured by Doppler mitral flow and peak myocardial velocity of the early diastolic wave measured by tissue Doppler imaging (TDI). Methods Left ventricular diastolic function in the patients with HCM was studied using TDI, pulsed Doppler echocardiography and the ratios of E and E' before and after esmolol administration. Results Compared with controls, myocardial segments in the patients with HCM showed lower peak velocity of the early diastolic wave (E'), higher peak velocity of the late diastolic wave ( A' ), lower E'/A' milo, higher E/E' and higher ratio of E/E' > 15. After one-year treatment of metoprolol and perindopril administration

  2. Analysis of area strain of left ventricle antetheca in patients of hypertrophic cardiomyopathy with two-dimensional speckle-tracking imaging%二维斑点追踪分析肥厚型心肌病患者左心室前壁面只应变

    Institute of Scientific and Technical Information of China (English)

    郑东燕; 陈明; 张宇辉; 郑建华; 刘怡

    2013-01-01

    目的 运用二维斑点追踪成像(STI)技术观察肥厚型心肌病(HCM)患者左心室前壁额断面心肌的面积应变.方法 收集25例肥厚型心肌病患者(HCM组)及25名健康志愿者(对照组),应用STI技术在左心室前壁心肌额断面采集25个ROI的面积应变,获得收缩期应变(ε)、收缩期应变率(SRS),舒张早期应变率(SRE)、舒张晚期应变率(SRA);比较两组的差异,并分析其与各左心室功能参数的相关性.结果 HCM组ε、SRS及SRE均低于对照组,而SRA高于对照组(P均<0.01);ε、SRS、SRE、SRA与左心室相对室壁厚度(RWT)、左心室质量指数(LVMI)呈线性负相关关系(P均<0.01).结论 STI技术能够用于观察左心室前壁额断面心肌的面积应变,检出HCM患者的左心室局部心肌功能异常.%Objective To observe the myocardial area strain at the anterior wall (AW) of left ventricle (LV) in hypertrophic cardiomyopathy (HCM) patients with two-dimensional speckle-tracking imaging (STI).Methods Twenty-five HCM patients (HCM group) and 25 healthy subjects (control group) were collected.Twenty-five ROIs on the AW of LV were tracked by STI.The strain (ε),strain rates in systole (SRS),strain rates in early-diastole (SRE),strain rates in late-diastole (SRA) on 25 ROIs were collected,and the mean valued of 25 ROIs were compared between the two groups.The correlation between the parameters of STI and left ventricular function were analyzed.Results Compared with the control group,e,SRS and SRE significantly decreased,but SRA increased in HCM group (all P<0.01).There were negative correlations between parameters of STI and left ventricular relative wall thickness and left ventricular mass index,respectively (all P<0.01).Conclusion STI can be used for observing the myocardial area strain at AW to detect the abnormal myocardial of LV in patients with HCM.

  3. Assessment of left ventricular systolic synchrony before and after percutaneous transluminal septal myocardial ablation of hypertrophic obstructive cardiomyopathy by two dimensional speckle tracking imaging%斑点追踪技术评价肥厚型梗阻性心肌病化学消融术前后左心室收缩同步性的研究

    Institute of Scientific and Technical Information of China (English)

    唐海林; 赵博文; 傅国胜; 王蓓; 黎鹏; 许立龙; 陈冉; 熊莉

    2012-01-01

    目的 应用二维斑点追踪显像(2D-STI)技术评价肥厚型梗阻性心肌病(HOCM)化学消融术前后患者左室收缩同步性,并探讨左室收缩同步性与左室流出道压差的关系.方法 21例HOCM患者于化学消融术前及术后6d,超声心动图测量左室流出道压差;获取左室短轴观(二尖瓣环、乳头肌和心尖水平)二维灰阶图像,应用2D-STI测量左室短轴观各节段收缩期径向应变达峰时间(TRS).计算左室整体径向应变达峰时间的标准差(TRS-SD).结果 21例HOCM患者左室流出道压差术后较术前明显下降,差异有统计学意义(P<0.01).术后6d,前间隔基底段及中段径向TRS较术前明显延迟(P<0.05),左室短轴观水平整体径向TRS-SD与术前比较差异无统计学意义(P>0.05).前间隔基底段TRS延迟与左室流出道压差下降呈中等相关(r =0.657,P<0.01).结论 2D-STI能准确检测HOCM患者化学消融术前后左室收缩同步性.%Objective To assess the characteristics of left ventrlcular ( LV) systolic syncnrony before and 6 days after percutaneous transluminal septal myocardial ablation (PTSMA) in patients with hypertrophic obstructive cardiomyopathy (HOCM) using two dimensional speckle tracking imaging(2DSTI),and to investigate correlation between the LV systolic synchrony and LV outflow-trace gradient (LVOTG).Methods LVOTG were measured before and 6 days after PTSMA in 21 patients with HOCM.The two dimensional loop-cinec were obtained in three levels of the short axis views of LV (mitral valve,papillary muscle and cardiac apex).The time from the onset of QRS complexes to systolic peak strain from the radial vectors (TRs) was recorded using 2D-STI.The standard deviation of the TRS of 18 segments (TRsSD) were calculated as indicator of LV systolic synchrony.Results Six days after PTSMA,LVOTG decreased significantly from (84.3 ± 19.1)mm Hg to (40.6 ± 8.3)mm Hg( P <0.01).TRS of the base and middle segments of anteroseptal were

  4. 二维斑点追踪成像技术在生理性和病理性心肌肥厚鉴别中的作用%Evaluation the global and regional myocardial function of patients with hypertrophic cardiomyopathy by two-dimensional speckle tracking imaging

    Institute of Scientific and Technical Information of China (English)

    尹家保; 郭瑞强; 陈金玲

    2011-01-01

    运用二维斑点追踪成像(2D-STI)技术分析肥厚型心肌病患者16例、运动员18例、健康对照组20例三组左心室心肌应变,心尖四腔观切面获取整体长轴应变(GLS)和局部心肌峰值收缩应变(PSS).结果显示,与运动员组和对照组比较,肥厚型心肌病组GLS减低[-(8.0±3.6)%,P<0.01];运动员组与正常对照组GLS比较差异无统计学意义(P>0.05).但正常对照组间隔基底段、中间段、侧壁中间段长轴应变,间隔基底段、中间段、心尖段、侧壁基底段、中间段局部心肌节段PSS显著高于运动员组.以左心室GLS小于-10%为截断值诊断病理性左心室肥厚的敏感性、特异性分别为84.0%、94.0%.提示STI技术能定量评价左室整体与局部收缩功能,有助于区分左心室生理性肥厚与病理性肥厚.%Two-dimensional speckle tracking imaging(2D-STI)can accurately evaluate myocardial strain with non-angle dependent and good reproducibility. In this study, 16 patients with hypertrophic cardiomyopathy (HCM), 18 athletes and 20 normal subjects underwent 2D-STI examination. The global longitudinal strain (GLS) and regional peak systolic strain (PSS) were assessed by 2D-STI in the apical four-chamber-view. Compared to athletes and normal subjects, GLS in patients with HCM was significantly reduced [GLS: -(8. 0±3.6)% , P < 0. 01]. There was no significant difference in GLS between athletes and the controls, but GLS in basal or middle segments of interventricular septum and middle segments of lateral wall; PSS in basal, middle or apical segments of interventricular septum and basal or middle segments of lateral wall of the normal controls were significantly higher than those of the athletes. A cut-off value of less than -10% in GLS for diagnosis of pathologic hypertrophy resulted in a sensitivity of 84. 0% and a specificity of 94. 0%. The results suggest that 2D-STI can quantify global and regional myocardial function and may be used for the

  5. Left ventricular radial and longitudinal systolic function derived from magnetic resonance imaging in hypertrophic cardiomyopathy patients%磁共振电影成像评价肥厚型心肌病左心室轴向及纵向收缩功能

    Institute of Scientific and Technical Information of China (English)

    穆莉莎; 李文玲; 朱力; 田兴仓; 孙凯; 郭玉林; 蒲艳军

    2014-01-01

    Objective To evaluate the left ventricular (LV) radial and longitudinal systolic function in hypertrophic cardiomyopathy (HCM) patients by 3.0 T MR.Methods Sixteen HCM (HCM group) and twenty normal adults (normal group) were examined with fast imaging employing steady-state (FIESTA) acquisition sequence of cardiac MRI.LV ejection fraction (LVEF),longitudinal shortening (LS)and fractional shortening (FS)in three standard levels were measured to analyze LV radial and longitudinal systolic function.Results Asymmetric hypertrophy was detected in all HCM patients.The LVEF and FS were significantly higher while LS was significantly lower in HCM group than those in normal group(P < 0.05or 0.01).FS at basal and middle levels were significantly higher in HCM group than in normal group (both P <0.01).FS in apex level was similar in the two groups(P =0.057).Pearson correlation analysis showed that LS was negatively related with the number of hypertrophy segments in HCM patients (r =-0.537,P =0.032).But there was no correlation between FS and the number of hypertrophy segments as well as FS and LS in HCM patients (r =-0.090,P =0.739 ; r =0.049,P =0.856).Conclusion The LV longitudinal systolic function was reduced but the LV radial systolic function remained unchanged in HCM patients,thus,LS changes could better reflect myocardial systolic function in HCM patients.%目的 利用3.0T心脏磁共振评价肥厚型心肌病(HCM)患者左心室轴向和纵向收缩功能.方法 应用二维快速平衡稳态采集快速成像技术对16例肥厚型心肌病患者(HCM组)及20例健康成年人(正常组)行磁共振电影检查,获得2组患者的左心室射血分数、纵向缩短率(LS)及左心室3个标准层面的轴向缩短率(FS),评价HCM患者左心室的轴向及纵向收缩功能.结果 HCM组患者均为非对称性左心室肥厚.HCM组左心室射血分数、FS均高于正常组,LS低于正常组(P<0.05或0.01).HCM组左心室基底部和中

  6. Ehlers-Danlos Syndrome associated with cardiomyopathy hypertrophic obstructive*

    OpenAIRE

    Pinto, Raimundo José Almeida de Oliveira; dos Santos, Adaílton Araújo; Azevedo, Mablo de Castro; Meira, Saulo Sacramento

    2015-01-01

    Ehlers-Danlos syndrome is a rare clinical condition caused by a genetic change that results in the formation of structurally or functionally altered collagen. The clinical manifestations are varied, being the most obvious skin hypermotility and increased joint flexibility, although other systems - such as cardiovascular, respiratory and neurological - may also be affected. This paper presents the report of a patient who sought medical attention with complaints of atypical chest pain. Clinical...

  7. [Septal alcohol ablation in patients with hypertrophic cardiomyopathy].

    Science.gov (United States)

    López-Aburto, Gustavo; Palacios-Rodríguez, Juan Manuel; Cantú-Ramírez, Samuel; Galván-García, Eduardo; Tolosa-Dzul, Gonzalo; Morán-Benavente, Armando; Ontiveros-Martínez, Raúl

    2013-01-01

    Objetivo: conocer características demográficas, clínicas y hemodinámicas de los pacientes con ablación con alcohol para tratar la miocardiopatía hipertrófica septal obstructiva (MHSO). Métodos: estudio observacional, longitudinal, descriptivo de 21 pacientes con MHSO resistente a tratamiento o con gradiente = 30 mm Hg en reposo o = 60 mm Hg provocado y con movimiento sistólico anterior o insuficiencia mitral > grado II. Resultados: edad de 50 ± 16 años; hombres 38.1 % y mujeres 61.9 %. Los síntomas fueron angor 42.9 %, disnea 85.7 % y síncope 23.8 %. La clase funcional NYHA preablación fue grados III y IV en 61.9 %; al año todos tenían grados I y II. Preablación y al año, el espesor del septo interventricular fue de 22.7 ± 4.9 y 20.7 ± 3.1 mm. Preablación, después y al año, la fracción de eyección fue de 65.5 ± 7, 62.2 ± 6.5 y 68.7 ± 6.2 %. Preablación, después y al año, el gradiente del tracto de salida del ventrículo izquierdo fue de 106.9 ± 29.9, 44.6 ± 24.3 y 22.0 ± 5.7 mm Hg. Preablación, la insuficiencia mitral fue grados III y IV en 33.3 y 47.6 % y al año fue grados 0 en 52.4 %, I en 28.6 % y II en 19 %. No hubo defunciones intrahospitalarias. Conclusiones: la ablación septal con alcohol en pacientes con MHSO fue exitosa.

  8. Alcohol septal ablation in patients with hypertrophic obstructive cardiomyopathy

    DEFF Research Database (Denmark)

    Jensen, Morten K; Prinz, Christian; Horstkotte, Dieter;

    2013-01-01

    The infarction induced by alcohol septal ablation (ASA) may predispose to arrhythmia and sudden cardiac death (SCD).......The infarction induced by alcohol septal ablation (ASA) may predispose to arrhythmia and sudden cardiac death (SCD)....

  9. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

    OpenAIRE

    Wessels, Marja W.; Herkert, Johanna C; Frohn-Mulder, Ingrid M.; Dalinghaus, Michiel; van den Wijngaard, Arthur; Ronald R de Krijger; Michels, Michelle; de Coo, Irenaeus FM; Hoedemaekers, Yvonne M; Dooijes, Dennis

    2014-01-01

    Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four unrelated neonates with lethal cardiomyopathy, and performed molecular studies to identify the genetic defect. We also present a literature overview of reported patients with compound heterozygous o...

  10. Echomorphology of cardiomyopathy: review of 217 cases from 1999 to 2010

    International Nuclear Information System (INIS)

    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)

  11. Hypertrophic pyloric stenosis

    DEFF Research Database (Denmark)

    Lund Kofoed, P E; Høst, A; Elle, B;

    1988-01-01

    To evaluate the usefulness of ultrasound in hypertrophic pyloric stenosis (HPS) and to analyse the correlation between the dimensions of the pyloric muscle and the age and the weight of the child, 34 children with suspected HPS and 34 controls were examined. An overlap between the dimensions...... of the pyloric muscle in the HPS group and in the controls stresses the need to assess the muscle length, the muscle diameter, and the muscle wall thickness in establishing the sonographic diagnosis of HPS. We found the following criteria useful: muscle length greater than or equal to 19 mm, muscle diameter...... greater than or equal to 10 mm, and muscle wall thickness greater than or equal to 4 mm. The results did not confirm previous reports of increasing dimensions of the pyloric muscle with age and weight....

  12. [Arrhythmic cardiomyopathy. Case report].

    Science.gov (United States)

    Streangă, Violeta; Dimitriu, A G; Iordache, C; Georgescu, G; Grecu, Mihaela

    2004-01-01

    An 11 year-old boy was admitted with incessant sinus node reentrant tachycardia and secondary dilated arrhythmic cardiomyopathy, treated by radiofrequency ablation. Two years later he was admitted with incessant automatic atrial tachycardia and arrhythmic cardiomyopathy; a second catheter ablation procedure failed, but the third one, performed four month later, was successfully and resulted in a restoration of a normal sinus rhythm and a complete regression of arrhythmic cardiomyopathy.

  13. 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. PMID:27171814

  14. Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies

    International Nuclear Information System (INIS)

    To analyse the value of cardiovascular magnetic resonance (CMR)-derived myocardial parameters to differentiate left ventricular non-compaction cardiomyopathy (LVNC) from other cardiomyopathies and controls. We retrospectively analysed 12 patients with LVNC, 11 with dilated and 10 with hypertrophic cardiomyopathy and compared them to 24 controls. LVNC patients had to fulfil standard echocardiographic criteria as well as additional clinical and imaging criteria. Cine steady-state free precession and late gadolinium enhancement (LGE) imaging was performed. The total LV myocardial mass index (LV-MMI), compacted (LV-MMIcompacted), non-compacted (LV-MMInon-compacted), percentage LV-MMnon-compacted, ventricular volumes and function were calculated. Data were compared using analysis of variance and Dunnett's test. Additionally, semi-quantitative segmental analyses of the occurrence of increased trabeculation were performed. Total LV-MMInon-compacted and percentage LV-MMnon-compacted were discriminators between patients with LVCN, healthy controls and those with other cardiomyopathies with cut-offs of 15 g/m2 and 25 %, respectively. Furthermore, trabeculation in basal segments and a ratio of non-compacted/compacted myocardium of ≥3:1 were criteria for LVNC. A combination of these criteria provided sensitivities and specificities of up to 100 %. None of the LVNC patients demonstrated LGE. Absolute CMR quantification of the LV-MMInon-compacted or the percentage LV-MMnon-compacted and increased trabeculation in basal segments allows one to reliably diagnose LVNC and to differentiate it from other cardiomyopathies. (orig.)

  15. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

    NARCIS (Netherlands)

    Wessels, Marja W.; Herkert, Johanna C.; Frohn-Mulder, Ingrid M.; Dalinghaus, Michiel; Van Den Wijngaard, Arthur; De Krijger, Ronald R.; Michels, Michelle; De Coo, Irenaeus Fm; Hoedemaekers, Yvonne M.; Dooijes, Dennis

    2015-01-01

    Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four u

  16. Valor prognóstico da fração de volume de colágeno na cardiomiopatia hipertrófica Valor pronóstico de la fracción de volumen de colágeno en la cardiomiopatía hipertrófica Prognostic value of the collagen volume fraction in hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Edmundo Arteaga

    2009-03-01

    ó, con éxito, biopsia endomiocárdica del ventrículo derecho en 21 pacientes sintomáticos con CMH. La fracción de volumen de colágeno (FVC miocárdico se determinó por medio de histología. Se determinó la FVC también en fragmentos de nueve corazones normales de individuos fallecidos por causas no cardiacas. Respecto a la FVC, se dividieron a los pacientes en grupos supra e inframedianos (FVC elevada y FVC baja, respectivamente, y se compararon las características clínicas y ecocardiográficas y las curvas de sobrevida. RESULTADOS: Entre los pacientes, la FVC tuvo variación del 1,86% al 29,9%, con mediana en el 6,19%. Ya en los corazones normales, del 0,13% al 1,46%, mediana en el 0,36% (p6,19%, sin que se observara diferencias basales. Sin embargo, tras un período de seguimiento promedio de 110 meses, cuatro muertes ocurrieron (dos súbitas, y otras dos por insuficiencia cardiaca en el grupo con FVC mayor, mientras que los pacientes del grupo con FVC menor estaban vivos al final del período (p=0,02. CONCLUSIÓN: Por primera vez, se asoció prospectivamente la fibrosis miocárdica a un peor diagnóstico en pacientes con CMH. Se deben encaminar esfuerzos hacia la cuantificación de la fibrosis en la CMH, al aceptar que la asociación con el pronóstico puede auxiliar tanto en la estratificación de riesgo para implante de desfibrilador, como en la prescripción de fármacos potencialmente reparadores miocárdicos.BACKGROUND: In hypertrophic cardiomyopathy (HCM, interstitial myocardial fibrosis is an important histological modification that has been associated with sudden death and evolution toward myocardial dilation. OBJECTIVE:To prospectively evaluate the prognostic value of the collagen volume fraction in HCM. METHODS: An endomyocardial biopsy of the right ventricle was successfully performed in 21 symptomatic patients with HCM. The myocardial collagen volume fraction (CVF was determined by histology. The CVF was also determined in fragments of nine normal

  17. Application of percutaneous transluminal septal myocardial ablation on hypertrophic obstructive cardiomyopathy%经皮导管室间隔心肌化学消融术治疗肥厚型梗阻性心肌病的近期疗效

    Institute of Scientific and Technical Information of China (English)

    刘红明; 王钰; 张宏杰

    2011-01-01

    Objective:To evaluate the feasibility and efficiency of percutaneous transluminal septal myocardial ablation (PTSMA) for treatment of hypertrophic obstructive cardiomyopathy (HOCM).Method: Eleven patients with 1 to 10 year history of HOCM underwent the PTSMA.Left ventricular outflow tract gradient (LVOTG)were measured before and after septal branches occluded by 96%-99% alcohol.The thickness of septal myocar dium, width of LVOT and amplitude of systolic anterior motion (SAM) were also measured before, at the time of discharge and 1 month after PTSMA by echocardiography.Result: Ten patients were accomplished by Sigwart method and only one patient died from acute myocardial infartion 4 hours after ablation.In survival cases, one of them was implanted DDD pacemaker because of permanent complete heart block 5 days later.Once the operation finished, LVOTG was immediately decreased from (90.40 ± 41.95) mmHg to (52.90 ± 34.12) mmHg (P<0.01).At the time of discharge, LVOTG and amplitude of SAM were improved significantly([82.98±36.46]vs [44.56±28.87]mmHg;[4.10±1.37]vs [2.30±1.06]mmHg, P<0.01) compared with those before operation.At the end of 1 month of following up, LVOTG, thickness of septal myocardium, width of LVOT and amplitude of SAM were all showed a good improvement respectively (P<0.01).Conclusion: PTSMA can significantly reduce LVOTG and has a satisfactory short term efficacy in the treatment of HOCM.Risk control must be emphasized during the ablation procedure and further careful evaluation is needed.%目的:探讨经皮导管室间隔心肌化学消融术(PTSMA)治疗肥厚型梗阻性心肌病(HOCM)方法及近期疗效.方法:11例HOCM患者,经心脏超声及导管测压证实存在左室流出道压力阶差(LVOTG),选择靶间隔支注入无水乙醇消融后记录LVOTG变化,出院时及出院后1个月复查超声心动图.结果:11例患者中消融第1间隔支者9例,消融第2间隔支者1例,同时消融第1、第2间隔支者1例;

  18. 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

  19. 组织多普勒衍生新技术评价肥厚型心肌病心房局部功能的研究%Evaluation of regional atrial function in patients with hypertrophic cardiomyopathy by new technologies derived from tissue Doppler imaging

    Institute of Scientific and Technical Information of China (English)

    吴文芳; 张平洋; 张幼祥; 吴成权; 董静; 张建鑫; 马小五; 方玲玲

    2012-01-01

    目的 探讨组织多普勒衍生新技术即组织速度成像及应变率成像评价肥厚型心肌病(HCM)患者心房局部功能的价值.方法 HCM组和健康对照组各30例,测量两组左房前后径,室间隔及左室后壁厚度,左、右室流出道压差,二、三尖瓣口E、A峰(Em、Am及Et、At),计算左房主动排空分数(LAAEF)及左房被动排空分数(LAPEF).取心尖四腔切面测量左房侧壁(LA)、右房侧壁(RA)、房间隔(IAS)近瓣环部(bas)和中部(mid)的峰值组织速度(Vs、Ve、Va)和峰值应变率(SRs、SRe、SRa).结果 HCM组左房前后径、室间隔及左室后壁厚度、左室流出道压差及LAAEF明显大于对照组(P <0.05),E/Am、E/At及LAPEF则显著减低(P <0.01).HCM组LA bas、LA mid及IAS bas、IAS mid的Ve减低;LA bas、LA mid、IAS bas、IAS mid和RA mid的SRe减低、SRa增高;LA mid及IAS bas、IAS mid的SRs减低,与对照组相应各节段测值比较,差异均有统计学意义(P <0.05).HCM组左房各节段SRa平均值(mSRa)与LAAEF呈显著正相关(r=0.810,P <0.01).结论 HCM患者的左、右心房局部功能均有不同程度受损,组织速度成像及应变率成像可准确评价心房功能尤其是左心房的局部功能变化情况.%Objective To evaluate the value of the new technologies of tissue velocity imaging (TVI) and strain rate imaging derived from tissue Doppler imaging in detecting regional atrial function in patients with hypertrophic cardiomyopathy (HCM).Methods Thirty patients with HCM and 30 healthy control subjects were enrolled in this study. Left atrial diameter, interventricular septal thickness, left ventricular posterior wall thickness, pressure gradients of left ventricular outflow tract and right ventricular outflow tract, peak E and A of mitralis and tricuspid (Em,Am and Et,At)were measured by conventional echocardiography. Left atrial active ejection fraction (LAAEF) and left atrial passive ejection fraction (LAPEF) were calculated. In four

  20. 左室长轴收缩期峰值应变在原发性心脏淀粉样变性与肥厚型心肌病诊断中的价值%Value of assessing left ventricular longitudinal systolic peak strain in differential diagnosis of primary cardiac amyloidosis from hypertrophic cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    张璐; 智光; 王叶; 程流泉; 王晶; 周肖; 刘淼; 张威; 章明; 张波

    2014-01-01

    Objective To analyze the endocardial, myocardial, and epicardial longitudinal systolic strain (LSsys) in the left ventricle (LV) segments and walls in patients with cardiac involvement due to primary amyloidosis (AL-CA) and hypertrophic cardiomyopathy (HCM). Methods Twenty patients with biopsy-proven AL-CA, 20 with asymmetric HCM, and 20 age-matched healthy volunteers were analyzed for their clinical characteristics and underwent conventional echocardiography for evaluating LV wall thickness, left atrial and ventricle size, systolic and diastolic function and 2-dimensional velocity vector imaging for evaluating the endocardial, myocardial and epicardial LSsys of the LV segments and walls. AL-CA and HCM patients also underwent cardiac magnetic resonance to evaluate the late gadolinium enhancement (LGE) features. Results Compared with the control group, AL-CA and HCM groups, with similar clinical symptoms and physical signs, both showed increased LV wall thickness, left atrial diameter, E/A ratio, septal E/e' ratio and the prevalence of granular sparkling. LV segments and walls endocardial LSsys were significantly lower in AL-CA patients than in HCM patients and the control subjects. The endocardial-epicardial LSsys difference in all the left ventricle walls were significantly smaller in AL-CA group than in the control group, but this difference appeared variable in HCM group. The LGE also presented with different features in AL-CA and HCM:AL-CA group showed subendocardial LGE in almost all the LV walls, but HCM group showed patchy LGE with a regional, multifocal distribution. Conclusion AL-CA is characterized by a significantly reduced endocardial LSsys in the LV segments and an uniform decrease of the endocardial-epicardial LSsys difference in all the LV walls, but the changes in HCM appear variable, and 2-dimensional velocity vector imaging is therefore a useful modality to differentiate AL-CA from HCM.%目的:分利用速度向量成像(VVI)技术比较原

  1. Burns, hypertrophic scar and galactorrhea

    Directory of Open Access Journals (Sweden)

    Hamid Karimi

    2013-07-01

    Full Text Available An 18-year old woman was admitted to Motahari Burn Center suffering from 30% burns. Treatment modalities were carried out for the patient and she was discharged after 20 days. Three to four months later she developed hypertrophic scar on her chest and upper limbs .At the same time she developed galactorrhea in both breasts and had a disturbed menstrual cycle four months post-burn. On investigation, we found hyperprolactinemia and no other reasons for the high level of prolactin were detected. She received treatment for both the hypertrophic scar and the severe itching she was experiencing. After seven months, her prolactin level had decreased but had not returned to the normal level. It seems that refractory hypertrophic scar is related to the high level of prolactin in burns patients.

  2. Phidippides cardiomyopathy: a review and case illustration.

    Science.gov (United States)

    Trivax, Justin E; McCullough, Peter A

    2012-02-01

    Phidippides was a Greek messenger who experienced sudden death after running more than 175 miles in two days. In today's world, marathon running and other endurance sports are becoming more popular and raising concern about sudden deaths at these events. Once etiologies such has hypertrophic cardiomyopathy, anomalous coronary arteries, and coronary atherosclerosis have been excluded, there is now an additional consideration termed Phidippides cardiomyopathy. Because endurance sports call for a sustained increase in cardiac output for several hours, the heart is put into a state of volume overload. It has been shown that approximately one-third of marathon runners experience dilation of the right atrium and ventricle, have elevations of cardiac troponin and natriuretic peptides, and in a smaller fraction later develop small patches of cardiac fibrosis that are the likely substrate for ventricular tachyarrhythmias and sudden death. Cardiac magnetic resonance imaging is emerging as the diagnostic test of choice for this condition. This review and case report summarizes the key features of this newly appreciated disorder.

  3. Review of cardiomyopathy imaging

    Energy Technology Data Exchange (ETDEWEB)

    Gunaratnam, Kughan, E-mail: Kughan@hotmail.com [Monash Medical Centre, Southern Health, Melbourne (Australia); Wong, Lok Hun, E-mail: nuhkol@hotmail.com [Monash Medical Centre, Southern Health, Melbourne (Australia); Nasis, Arthur, E-mail: arthur.nasis@southernhealth.org.au [Monash Medical Centre, Southern Health, Melbourne (Australia); Ellims, Andris, E-mail: aellims@hotmail.com [The Alfred Hospital, 55 Commercial Road, Melbourne, VIC 3004 (Australia); Nandurkar, Dee, E-mail: nandurkar.dee@gmail.com [Monash Medical Centre, Southern Health, Melbourne (Australia); Soo, Geoffrey, E-mail: geoffrey.soo@southernhealth.org.au [Monash Medical Centre, Southern Health, Melbourne (Australia); Cameron, James, E-mail: james.cameron@monash.edu.au [Monash Medical Centre, Southern Health, Melbourne (Australia); Troupis, John, E-mail: john.troupis@southernhealth.org.au [Monash Medical Centre, Southern Health, Melbourne (Australia)

    2013-10-01

    Cardiomyopathies are increasingly being detected on both routine and non-routine imaging. Furthermore, the diagnosis of cardiomyopathy is changing from the traditional method of clinical presentation and cardiac morphology to a quantifiable method based on both cardiac morphology and function. With cardiac magnetic resonance imaging, coronary computed tomography and nuclear medicine increasingly being utilized along with echocardiography in the diagnostic process, it is important for the radiologist to be aware of the relevant criteria in formulating a diagnosis. We aim to provide an overview of the imaging characteristics of the most commonly encountered cardiomyopathies.

  4. Extracellular matrix alterations in cardiomyopathy: The possible crucial role in the dilative form

    OpenAIRE

    Kapelko, Valeri I

    2001-01-01

    The collagen network, part of the myocardial extracellular matrix (EM), and other EM proteins transmit mechanical forces generated by cardiomyocytes to cardiac cavities. Network rearrangement and enlargement – fibrosis – is an essential component of cardiac remodelling at various pathological stages. In particular, similarly abundant fibrosis occurs in dilated, hypertrophic and restrictive cardiomyopathy, and it is unclear how this relates to respective changes in ventricular cavities and siz...

  5. Biventricular Takotsubo Cardiomyopathy

    Science.gov (United States)

    Daoko, Joseph; Rajachandran, Manu; Savarese, Ronald; Orme, Joseph

    2013-01-01

    Biventricular takotsubo cardiomyopathy is associated with more hemodynamic instability than is isolated left ventricular takotsubo cardiomyopathy; medical management is more invasive and the course of hospitalization is longer. In March 2011, a 62-year-old woman presented at our emergency department with abdominal pain, nausea, and vomiting. On hospital day 2, she experienced chest pain. An electrocardiogram and cardiac enzyme levels suggested an acute myocardial infarction. She underwent cardiac angiography and was found to have severe left ventricular systolic dysfunction involving the mid and apical segments, which resulted in a left ventricular ejection fraction of 0.10 to 0.15 in the absence of obstructive coronary artery disease. Her hospital course was complicated by cardiogenic shock that required hemodynamic support with an intra-aortic balloon pump and dobutamine. A transthoracic echocardiogram revealed akinesis of the mid-to-distal segments of the left ventricle and mid-to-apical dyskinesis of the right ventricular free wall characteristic of biventricular takotsubo cardiomyopathy. After several days of medical management, the patient was discharged from the hospital in stable condition. To the best of our knowledge, this is the first review of the literature on biventricular takotsubo cardiomyopathy that compares its hemodynamic instability and medical management requirements with those of isolated left ventricular takotsubo cardiomyopathy. Herein, we discuss the case of our patient, review the pertinent medical literature, and convey the prevalence and importance of right ventricular involvement in patients with takotsubo cardiomyopathy. PMID:23914028

  6. The Emerging Role of Cardiovascular Magnetic Resonance Imaging in the Evaluation of Metabolic Cardiomyopathies.

    Science.gov (United States)

    Mavrogeni, S; Markousis-Mavrogenis, G; Markussis, V; Kolovou, G

    2015-08-01

    The aim of this review is to discuss the role of Cardiovascular Magnetic Resonance (CMR) in the diagnosis, risk stratification, and follow-up of metabolic cardiomyopathies. The classification of myocardial diseases, proposed by WHO/ISFC task force, distinguished specific cardiomyopathies, caused by metabolic disorders, into 4 types: 1) endocrine disorders, 2) storage or infiltration disorders (amyloidosis, hemochromatosis and familial storage disorders), 3) nutritional disorders (Kwashiorkor, beri-beri, obesity, and alcohol), and 4) diabetic heart. Thyroid disease, pheochromocytoma, and growth hormone excess or deficiency may contribute to usually reversible dilated cardiomyopathy. Glucogen storage diseases can be presented with myopathy, liver, and heart failure. Lysosomal storage diseases can provoke cardiac hypertrophy, mimicking hypertrophic cardiomyopathy and arrhythmias. Hereditary hemochromatosis, an inherited disorder of iron metabolism, leads to tissue iron overload in different organs, including the heart. Cardiac amyloidosis is the result of amyloid deposition in the heart, formed from breakdown of normal or abnormal proteins that leads to increased heart stiffness, restrictive cardiomyopathy, and heart failure. Finally, nutritional disturbances and metabolic diseases, such as Kwashiorkor, beri-beri, obesity, alcohol consumption, and diabetes mellitus may also lead to severe cardiac dysfunction. CMR, through its capability to reliably assess anatomy, function, inflammation, rest-stress myocardial perfusion, myocardial fibrosis, aortic distensibility, iron and/or fat deposition can serve as an excellent tool for early diagnosis of heart involvement, risk stratification, treatment evaluation, and long term follow-up of patients with metabolic cardiomyopathies. PMID:26197853

  7. A Case Report of Cardiac Amyloidosis Initially Managed as Dilated Cardiomyopathy: Missing the obvious!

    Directory of Open Access Journals (Sweden)

    Yerramareddy Vijaya Chandra

    2016-06-01

    Full Text Available Amyloidosis is a rare disorder with uncertain incidence; however, in UK and US population, AL amyloidosis, the most frequently diagnosed type, has an annual incidence of 6 to 10 cases per million. [1] The deposition of amyloid, the extracellular proteinaceous material, in the tissues results in a group of disorders called amyloidoses. [2] The most commonly deposited amyloid material in various organ systems including heart are light chains, transthyretin and serum amyloid A. [2] One of the challenges in diagnosing amyloidosis early is that it commonly manifests with nonspeci c symptoms of fatigue and weight loss. The diagnosis is generally considered only when symptoms are traceable to a speci c organ. [3] Cardiac amyloidosis presents initially with mild LV diastolic dysfunction, progressing to classical restrictive cardiomyopathy and nally even dilated cardiomyopathy like stage with end-stage heart failure. The disease can be mistaken in the early stages with hypertrophic cardiomyopathy and hypertensive heart disease and in the late stages with the common-garden variety of dilated cardiomyopathy. Here, we describe a case of cardiac amyloidosis, initially diagnosed and managed as dilated cardiomyopathy with inadequate response to management. Amyloidosis; 2D ECHO; Dilated Cardiomyopathy

  8. Role of left ventricular twist mechanics in cardiomyopathies, dance of the helices

    Institute of Scientific and Technical Information of China (English)

    Floris; Kauer; Marcel; Leonard; Geleijnse; Bastiaan; Martijn; van; Dalen

    2015-01-01

    Left ventricular twist is an essential part of left ventricular function. Nevertheless, knowledge is limited in "the cardiology community" as it comes to twist mechanics. Fortunately the development of speckle tracking echocardiography, allowing accurate, reproducible and rapid bedside assessment of left ventricular twist, has boosted the interest in this important mechanical aspect of left ventricular deformation. Although the fundamental physiological role of left ventricular twist is undisputable, the clinical relevance of assessment of left ventricular twist in cardiomyopathies still needs to be established. The fact remains; analysis of left ventricular twist mechanics has already provided substantial pathophysiological understanding on a comprehensive variety of cardiomyopathies. It has become clear that increased left ventricular twist in for example hypertrophic cardiomyopathy may be an early sign of subendocardial(microvascular) dysfunction. Furthermore, decreased left ventricular twist may be caused by left ventricular dilatation or an extensive myocardial scar. Finally, the detection of left ventricular rigid body rotation in noncompaction cardiomyopathy may provide an indispensible method to objectively confirm this difficult diagnosis. All this endorses the value of left ventricular twist in the field of cardiomyopathies and may further encourage the implementation of left ventricular twist parameters in the "diagnostic toolbox" for cardiomyopathies.

  9. Acromegaly-induced cardiomyopathy with dobutamine-induced outflow tract obstruction.

    Science.gov (United States)

    Abdelsalam, Mahmoud A; Nippoldt, Todd B; Geske, Jeffrey B

    2016-01-01

    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. PMID:26961727

  10. Treatment of Chagas Cardiomyopathy

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    Fernando A. Botoni

    2013-01-01

    Full Text Available Chagas' disease (ChD, caused by the protozoa Trypanosoma cruzi (T. cruzi, was discovered and described by the Brazilian physician Carlos Chagas in 1909. After a century of original description, trypanosomiasis still brings much misery to humanity and is classified as a neglected tropical disease prevalent in underdeveloped countries, particularly in South America. It is an increasing worldwide problem due to the number of cases in endemic areas and the migration of infected subjects to more developed regions, mainly North America and Europe. Despite its importance, chronic chagas cardiomyopathy (CCC pathophysiology is yet poorly understood, and independently of its social, clinical, and epidemiological importance, the therapeutic approach of CCC is still transposed from the knowledge acquired from other cardiomyopathies. Therefore, the objective of this review is to describe the treatment of Chagas cardiomyopathy with emphasis on its peculiarities.

  11. Dystrophin-Deficient Cardiomyopathy.

    Science.gov (United States)

    Kamdar, Forum; Garry, Daniel J

    2016-05-31

    Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers. The primary presenting symptom in most dystrophinopathies is skeletal muscle weakness. However, cardiac muscle is also a subtype of striated muscle and is similarly affected in many of the muscular dystrophies. Cardiomyopathies associated with dystrophinopathies are an increasingly recognized manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Recent studies suggest that these patient populations would benefit from cardiovascular therapies, annual cardiovascular imaging studies, and close follow-up with cardiovascular specialists. Moreover, patients with DMD and BMD who develop end-stage heart failure may benefit from the use of advanced therapies. This review focuses on the pathophysiology, cardiac involvement, and treatment of cardiomyopathy in the dystrophic patient. PMID:27230049

  12. Tako-tsubo cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Yan Zhuang; Di Xu

    2009-01-01

    Tako-tsubo cardiomyopathy(TC) is a recently described acute cardiac syndrome, which the latest cardiomyopathy classification of the European Society of Cardiology describes as an unclassified cardiomyopathy. TC mimics acute myocardial infarction(AMI) and is characterised by ischaemic chest symptoms, an elevated electrocardiogram ST-segment, and moderately increased levels of cardiac disease markers. However, patients with TC have no coronary angiogram-detectable or non-obstructive coronary arterial disease(CAD), and left ventriculography documents transient left apical and middle ventricular wall dysfunction. In this review, we describe TC and evaluate epidemiological, clinical and instrumental features, pathophysiological mechanisms, therapy and prognosis of this syndrome, with a view to raising awareness of the disease.

  13. Bilateral hypertrophic olivary degeneration in Wilson disease

    Energy Technology Data Exchange (ETDEWEB)

    Otto, Josephin; Guenther, Pete; Hoffmann, Karl Titus [Leipzig University Hospital, Leipzig (Greece)

    2013-04-15

    Hypertrophic olivary degeneration resulting from lesions of the dento-rubro-olivary pathway, also called Guillain-Mollaret-triangle, has been described previously in a number of cases. Reports about bilateral hypertrophic olivary degeneration of the inferior olivary nuclei are very limited, and the magnetic resonance imaging findings of hypertrophic olivary degeneration in Wilson disease have not yet been described to the best of our knowledge. Herein, we present the first report of bilateral hypertrophic olivary degeneration diagnosed by magnetic resonance imaging in a patient suffering from Wilson disease.

  14. Value of cardiovascular MR in diagnosing left ventricular non-compaction cardiomyopathy and in discriminating between other cardiomyopathies

    Energy Technology Data Exchange (ETDEWEB)

    Grothoff, Matthias; Lehmkuhl, Lukas; Gutberlet, Matthias [University of Leipzig - Heart Center, Department of Diagnostic and Interventional Radiology, Leipzig (Germany); Pachowsky, Milena [Klinik fuer Strahlenheilkunde, Charite, Campus Virchow-Klinikum, Berlin (Germany); Hoffmann, Janine [University of Leipzig, Department of Obstetrics, Leipzig (Germany); Posch, Maximilian [Department of Cardiothoracic Surgery, Deutsches Herzzentrum Berlin, Berlin (Germany); Klaassen, Sabine [Experimental and Clinical Research Center, Charite Medical Faculty and Max Delbrueck Center for Molecular Medicine, Berlin (Germany)

    2012-12-15

    To analyse the value of cardiovascular magnetic resonance (CMR)-derived myocardial parameters to differentiate left ventricular non-compaction cardiomyopathy (LVNC) from other cardiomyopathies and controls. We retrospectively analysed 12 patients with LVNC, 11 with dilated and 10 with hypertrophic cardiomyopathy and compared them to 24 controls. LVNC patients had to fulfil standard echocardiographic criteria as well as additional clinical and imaging criteria. Cine steady-state free precession and late gadolinium enhancement (LGE) imaging was performed. The total LV myocardial mass index (LV-MMI), compacted (LV-MMI{sub compacted}), non-compacted (LV-MMI{sub non-compacted}), percentage LV-MM{sub non-compacted}, ventricular volumes and function were calculated. Data were compared using analysis of variance and Dunnett's test. Additionally, semi-quantitative segmental analyses of the occurrence of increased trabeculation were performed. Total LV-MMI{sub non-compacted} and percentage LV-MM{sub non-compacted} were discriminators between patients with LVCN, healthy controls and those with other cardiomyopathies with cut-offs of 15 g/m{sup 2} and 25 %, respectively. Furthermore, trabeculation in basal segments and a ratio of non-compacted/compacted myocardium of {>=}3:1 were criteria for LVNC. A combination of these criteria provided sensitivities and specificities of up to 100 %. None of the LVNC patients demonstrated LGE. Absolute CMR quantification of the LV-MMI{sub non-compacted} or the percentage LV-MM{sub non-compacted} and increased trabeculation in basal segments allows one to reliably diagnose LVNC and to differentiate it from other cardiomyopathies. (orig.)

  15. 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

  16. Molecular profiling of dilated cardiomyopathy that progresses to heart failure

    Science.gov (United States)

    Burke, Michael A.; Chang, Stephen; Wakimoto, Hiroko; Gorham, Joshua M.; Conner, David A.; Christodoulou, Danos C.; Parfenov, Michael G.; DePalma, Steve R.; Eminaga, Seda; Konno, Tetsuo; Seidman, Jonathan G.; Seidman, Christine E.

    2016-01-01

    Dilated cardiomyopathy (DCM) is defined by progressive functional and structural changes. We performed RNA-seq at different stages of disease to define molecular signaling in the progression from pre-DCM hearts to DCM and overt heart failure (HF) using a genetic model of DCM (phospholamban missense mutation, PLNR9C/+). Pre-DCM hearts were phenotypically normal yet displayed proliferation of nonmyocytes (59% relative increase vs. WT, P = 8 × 10–4) and activation of proinflammatory signaling with notable cardiomyocyte-specific induction of a subset of profibrotic cytokines including TGFβ2 and TGFβ3. These changes progressed through DCM and HF, resulting in substantial fibrosis (17.6% of left ventricle [LV] vs. WT, P = 6 × 10–33). Cardiomyocytes displayed a marked shift in metabolic gene transcription: downregulation of aerobic respiration and subsequent upregulation of glucose utilization, changes coincident with attenuated expression of PPARα and PPARγ coactivators -1α (PGC1α) and -1β, and increased expression of the metabolic regulator T-box transcription factor 15 (Tbx15). Comparing DCM transcriptional profiles with those in hypertrophic cardiomyopathy (HCM) revealed similar and distinct molecular mechanisms. Our data suggest that cardiomyocyte-specific cytokine expression, early fibroblast activation, and the shift in metabolic gene expression are hallmarks of cardiomyopathy progression. Notably, key components of these profibrotic and metabolic networks were disease specific and distinguish DCM from HCM. PMID:27239561

  17. 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.

  18. Genetics Home Reference: familial restrictive cardiomyopathy

    Science.gov (United States)

    ... Home Health Conditions familial restrictive cardiomyopathy familial restrictive cardiomyopathy Enable Javascript to view the expand/collapse boxes. ... All Open All Close All Description Familial restrictive cardiomyopathy is a genetic form of heart disease. For ...

  19. Frequency of echocardiographic complications of dilated cardiomyopathy at a tertiary care hospital

    International Nuclear Information System (INIS)

    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)

  20. 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. PMID:26712328

  1. 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.

  2. Saw-tooth cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Karatza Ageliki A

    2009-12-01

    Full Text Available Abstract We present an unusual case of cardiomyopathy in a two month old male infant with a grade-I systolic murmur. Echocardiographic examination disclosed left ventricular (LV, dysplasia with saw-tooth like inwards myocardial projections extending from the lateral walls towards the LV cavity. There was mild LV systolic dysfunction with apical hypokinesia. Cardiovascular magnetic resonance demonstrated in detail these cross bridging muscular projections originating from the inferior interventricular septum and lateral LV wall, along with areas of hypokinesis at the LV septum and apex in a noncoronary distribution, without any late gadolinium enhancement. We have termed this condition saw-tooth cardiomyopathy because of the very characteristic appearance.

  3. Saw-tooth cardiomyopathy

    OpenAIRE

    Karatza Ageliki A; Danias Peter G; Davlouros Periklis A; Kiaffas Maria G; Alexopoulos Dimitrios

    2009-01-01

    Abstract We present an unusual case of cardiomyopathy in a two month old male infant with a grade-I systolic murmur. Echocardiographic examination disclosed left ventricular (LV), dysplasia with saw-tooth like inwards myocardial projections extending from the lateral walls towards the LV cavity. There was mild LV systolic dysfunction with apical hypokinesia. Cardiovascular magnetic resonance demonstrated in detail these cross bridging muscular projections originating from the inferior interve...

  4. Hypertrophic lupus vulgaris: an unusual presentation.

    Science.gov (United States)

    Jain, Vijay K; Aggarwal, Kamal; Jain, Sarika; Singh, Sunita

    2009-07-01

    Lupus vulgaris is the most common form of cutaneous tuberculosis occurring in previously sensitized individuals with a high degree of tuberculin sensitivity. Various forms including plaque, ulcerative, hypertrophic, vegetative, papular, and nodular forms have been described. A 30-year-old male patient presented with a very large hypertrophic lupus vulgaris lesion over left side of chest since 22 years. Histopathological examination showed granulomatous infiltration without caseation necrosis. The Mantoux reaction was strongly positive. Hypertrophic lupus vulgaris of such a giant size and that too at an unusual site is extremely rare and hence is being reported.

  5. [The clinical practice guidelines of the Sociedad Española de Cardiología on cardiomyopathies and myocarditis].

    Science.gov (United States)

    Galve Basilio, E; Alfonso Manterola, F; Ballester Rodés, M; Castro Beiras, A; Fernández de Soria Pantoja, R; Penas Lado, M; Sánchez Domínguez, J

    2000-03-01

    Myocardial diseases are a extraordinarily heterogeneous group of processes that only have in common the fact that they involve heart muscle and that they cause a wide spectrum of myocardial dysfunction. The approach of the management and treatment of the cardiomyopathies is a continuous matter of discussion because the vast majority of alternatives in this field have not been based on the best scientific possible evidence and, since except for the case of heart failure associated with dilated cardiomyopathy. The majority of different options have not been studied by means of large (or even small) randomized trials. Nevertheless, this chapter has tried to provide the reader with different approaches on how to deal with important clinical problems in dilated, hypertrophic and restrictive cardiomyopathies, and in myocarditis as well. For this, we have utilized the most relevant information found coupled with our best clinical judgment, although we admit that many of the clinical recommendations can be controversial.

  6. Insights into restrictive cardiomyopathy from clinical and animal studies

    Institute of Scientific and Technical Information of China (English)

    Pierre-Yves Jean-Charles; Yue-Jin Li; Chang-Long Nan; Xu-Pei Huang

    2011-01-01

    Catdiomyopathies are diseases that primarily affect the myocardium,leading to serious cardiac dysfimction and heart failure.Out of the three major categories of candiomyopathies(hypertrophic,dilated and restrictive),restrictive cardiomyopathy(RCM)is less common and also the least studied However,the prognosis for RCM is poor as some patients dying in their childhood The molecular mechanisms behind the disease development and progression are not very clear and the treatment of RCM is very difficult and often ineffective.In this article,we reviewed the recent progress in RCM research from the clinical studies and the translational studies done on diseased transgenic animal models.This will help for a better understanding of tare mechanisms underlying the etiology and development of RCM and for the design of better treatments for the disease.

  7. Estudo de mutações causadoras de cardiomiopatia hipertrófica em um grupo de pacientes no Espírito Santo, Brasil Estudio de mutaciones causadoras de cardiomiopatía hipertrófica en un grupo de pacientes en Espírito Santo, Brasil Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil

    Directory of Open Access Journals (Sweden)

    Júlia Daher Carneiro Marsiglia

    2010-01-01

    un grupo de pacientes en el estado de Espírito Santo, Brasil. MÉTODOS: Usando la técnica SSCP, se estudiaron 12 exones de los tres principales genes involucrados con la CH: exones 15, 20, 21, 22 y 23 del gen de la cadena pesada de la β-miosina (MYH7, exones 7, 16, 18, 22 y 24 del gen de la proteína C unida a la miosina (MYBPC3 y exones 8 y 9 del gen de la troponina T (TNNT2. RESULTADOS: Se encontraron 16 alteraciones, incluyendo dos mutaciones, una de ellas posiblemente patogénica en el gen MYBPC3 gen (p. Glu441Lys y otra patogénica ya descrita en el gen TNNT2 (p. Arg92Trp; 8 variaciones de secuencia raras y 6 variaciones de secuencia con frecuencia alélica mayor que el 1% (polimorfismos. CONCLUSIONES: Con estos datos, es posible concluir que el genotipaje de los pacientes es factible en nuestro medio. Es posible que la variante p.Glu441Lys en el exón 16 del gen MYBPC3 sea patogénica, resultando en un fenotipo más leve que el encontrado en asociación con otras mutaciones. La variante p.Arg92Trp en el exón 9 del gen TNNT2 no resulta en un fenotipo tan homogéneo como el descrito anteriormente y puede llevar a hipertrofia grave.BACKGROUND: Hypertrophic cardiomyopathy (HC is the most frequent cardiac hereditary disease, caused by mutations in sarcomere protein coding genes. Although more than 430 mutations have been identified in several continents and countries, there have been no reports of mutations in Brazil. OBJECTIVE: To carry out a genetic study to identify genetic mutations that cause HC in a group of patients in Espirito Santo, Brazil. METHODS: Using the SSCP technique, 12 exons from the three main genes involved in HC were studied: exons 15, 20, 21, 22 and 23 of the β-myosin heavy chain gene (MYH7, exons 7, 16, 18, 22 and 24 of the myosin binding protein C gene (MYBPC3 and exons 8 and 9 of troponin T gene (TNNT2. RESULTS: 16 alterations were found, including two mutations, one of them possibly pathogenic in the MYBPC3 gene (p. Glu441Lys and

  8. Role of neuropeptides in cardiomyopathies.

    Science.gov (United States)

    Dvorakova, Magdalena Chottova; Kruzliak, Peter; Rabkin, Simon W

    2014-11-01

    The role of neuropeptides in cardiomyopathy-associated heart failure has been garnering more attention. Several neuropeptides--Neuropeptide Y (NPY), vasoactive intestinal peptide (VIP), calcitonin gene related peptide (CGRP), substance P (SP) and their receptors have been studied in the various types of cardiomyopathies. The data indicate associations with the strength of the association varying depending on the kind of neuropeptide and the nature of the cardiomyopathy--diabetic, ischemic, inflammatory, stress-induced or restrictive cardiomyopathy. Several neuropeptides appear to alter regulation of genes involved in heart failure. Demonstration of an association is an essential first step in proving causality or establishing a role for a factor in a disease. Understanding the complexity of neuropeptide function should be helpful in establishing new or optimal therapeutic strategies for the treatment of heart failure in cardiomyopathies.

  9. MRI in hypertrophic mono- and polyneuropathies

    International Nuclear Information System (INIS)

    Different conditions that may lead to enlarged nerves or nerve roots include hereditary motor and sensory neuropathy (HMSN), neurofibromatosis (NF) type 1, chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and intraneural perineurioma. Differential diagnosis of hypertrophic mono- and polyradiculopathies remains challenging but is important because of different treatments and prognosis. Magnetic resonance imaging (MRI) can identify the hypertrophic nerve segments and guide a fascicular biopsy. A fascicular biopsy will often be necessary for precise diagnosis

  10. MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.

    Directory of Open Access Journals (Sweden)

    Lore Becker

    Full Text Available Recently, mutations in the mitochondrial translation optimization factor 1 gene (MTO1 were identified as causative in children with hypertrophic cardiomyopathy, lactic acidosis and respiratory chain defect. Here, we describe an MTO1-deficient mouse model generated by gene trap mutagenesis that mirrors the human phenotype remarkably well. As in patients, the most prominent signs and symptoms were cardiovascular and included bradycardia and cardiomyopathy. In addition, the mutant mice showed a marked worsening of arrhythmias during induction and reversal of anaesthesia. The detailed morphological and biochemical workup of murine hearts indicated that the myocardial damage was due to complex I deficiency and mitochondrial dysfunction. In contrast, neurological examination was largely normal in Mto1-deficient mice. A translational consequence of this mouse model may be to caution against anaesthesia-related cardiac arrhythmias which may be fatal in patients.

  11. Cardiac involvement of primary hyperoxaluria accompanied by non-compaction cardiomyopathy and patent ductus arteriosus.

    Science.gov (United States)

    Arat, Nurcan; Akyıldız, Murat; Tellioğlu, Gürkan; Tokat, Yaman

    2015-04-01

    Primary hyperoxaluria is a rare hereditary metabolic disorder resulting in accumulation of calcium oxalate in visceral organs, including the heart. We report a 19-year-old male with non- compaction cardiomyopathy combined with patent ductus arteriosus awaiting combined liver-kidney transplantation for primary hyperoxaluria. After surgical closure of the patent ductus arteriosus, the patient underwent a successful renal and subsequent liver transplantation. The presence of hypertrophic cardiomyopathy in hyperoxaluria patients has been reported before, but this is the first report of non-compaction myocardium with patent ductus arteriosus in a patient with primary hyperoxaluria. At the third month after combined liver and renal transplantation, improvement in cardiac functions were observed. Primary hyperoxaluria is a clinical entity to be taken into consideration in differential diagnosis of hypertrophied myocardium with high myocardial echocardiographic intensity. In cases of hyperoxaluria, additional congenital abnormalities may complicate the clinical picture. PMID:25906003

  12. Epidemiology and genetics of dilated cardiomyopathy in the Indian context

    Directory of Open Access Journals (Sweden)

    Ushasree B

    2009-07-01

    Full Text Available Background: Dilated cardiomyopathy (DCM still remains to be a poorly understood and less analyzed group of cardiac-muscle disorders when compared to hypertrophic cardiomyopathy (HCM. Also, the vast clinical heterogeneity among the patients has rendered the small and isolated kindred studies less informative on the genetics and epidemiology of DCM. Aim of the study: The study aimed at understanding the epidemiology and genetics of DCMs in the Indian context. Materials and methods/ Statistical analysis: One hundred seven DCM patients and 105 healthy individuals were included in the study for epidemiological and genetic risk factor identification and to fit the possible mode of inheritance. Single′s ascertainment methodology for segregation analysis and Penrose frequency estimates were followed to evaluate for the role of specific epidemiological factors in the disease etiology. Chi-square analysis was carried out to interpret the results statistically. Results and Conclusion: Our study suggests that epidemiological factors like gender, age at onset and vegetarian diet in conjunction with sarcomere gene mutations may play a role in the disease expression. Similarly, segregation analysis for the possible mode of inheritance showed a deviation from the autosomal dominant mode of inheritance, strengthening the underlying genetic heterogeneity of DCM.

  13. 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.

  14. A Review of the Giant Protein Titin in Clinical Molecular Diagnostics of Cardiomyopathies.

    Science.gov (United States)

    Gigli, Marta; Begay, Rene L; Morea, Gaetano; Graw, Sharon L; Sinagra, Gianfranco; Taylor, Matthew R G; Granzier, Henk; Mestroni, Luisa

    2016-01-01

    Titin (TTN) is known as the largest sarcomeric protein that resides within the heart muscle. Due to alternative splicing of TTN, the heart expresses two major isoforms (N2B and N2BA) that incorporate four distinct regions termed the Z-line, I-band, A-band, and M-line. Next-generation sequencing allows a large number of genes to be sequenced simultaneously and provides the opportunity to easily analyze giant genes such as TTN. Mutations in the TTN gene can cause cardiomyopathies, in particular dilated cardiomyopathy (DCM). DCM is the most common form of cardiomyopathy, and it is characterized by systolic dysfunction and dilation of the left ventricle. TTN truncating variants have been described as the most common cause of DCM, while the real impact of TTN missense variants in the pathogenesis of DCM is still unclear. In a recent population screening study, rare missense variants potentially pathogenic based on bioinformatic filtering represented only 12.6% of the several hundred rare TTN missense variants found, suggesting that missense variants are very common in TTN and are frequently benign. The aim of this review is to understand the clinical role of TTN mutations in DCM and in other cardiomyopathies. Whereas TTN truncations are common in DCM, there is evidence that TTN truncations are rare in the hypertrophic cardiomyopathy (HCM) phenotype. Furthermore, TTN mutations can also cause arrhythmogenic right ventricular cardiomyopathy (ARVC) with distinct clinical features and outcomes. Finally, the identification of a rare TTN missense variant cosegregating with the restrictive cardiomyopathy (RCM) phenotype suggests that TTN is a novel disease-causing gene in this disease. Clinical diagnostic testing is currently able to analyze over 100 cardiomyopathy genes, including TTN; however, the size and presence of extensive genetic variation in TTN presents clinical challenges in determining significant disease-causing mutations. This review discusses the current

  15. New insights into cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Møller, Søren; Hove, Jens D; Dixen, Ulrik;

    2013-01-01

    Cirrhotic cardiomyopathy designates a cardiac dysfunction, which includes reduced cardiac contractility with systolic and diastolic dysfunction, and presence of electrophysiological abnormalities in particular prolongation of the QT interval. Several pathophysiological mechanisms including reduce...

  16. Tachycardia-induced Cardiomyopathy (Tachycardiomyopathy

    Directory of Open Access Journals (Sweden)

    Hassan A. Mohamed

    2007-01-01

    Full Text Available The term tachycardia-induced cardiomyopathy or tachycardiomyopathy refers to impairment in left ventricular function secondary to chronic tachycardia, which is partially or completely reversible once the tachyarrhythmia is controlled. Tachycardia-induced cardiomyopathy has been shown to occur both in experimental models and in patients with incessant tachyarrhythmia.Data from several studies and from case reports have shown that rate control by means of cardioversion, negative chronotropic agents, and surgical or catheter-based atrioventricular node ablation, resulted in significant improvement of systolic function.The diagnosis of tachycardia-induced cardiomyopathy is usually made following observation of marked improvement in systolic function after normalization of heart rate. Clinicians should be aware that patients with unexplained systolic dysfunction may have tachycardia-induced cardiomyopathy, and that controlling the arrhythmia may result in improvement of systolic function.

  17. 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.

  18. Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

    Science.gov (United States)

    Wessels, Marja W; Herkert, Johanna C; Frohn-Mulder, Ingrid M; Dalinghaus, Michiel; van den Wijngaard, Arthur; de Krijger, Ronald R; Michels, Michelle; de Coo, Irenaeus FM; Hoedemaekers, Yvonne M; Dooijes, Dennis

    2015-01-01

    Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four unrelated neonates with lethal cardiomyopathy, and performed molecular studies to identify the genetic defect. We also present a literature overview of reported patients with compound heterozygous or homozygous pathogenic MYBPC3 mutations and describe their clinical characteristics. All four children presented with feeding difficulties, failure to thrive, and dyspnea. They died from cardiac failure before age 13 weeks. Features of left ventricular noncompaction were diagnosed in three patients. In the fourth, hypertrabeculation was not a clear feature, but could not be excluded. All of them had septal defects. Two patients were compound heterozygotes for the pathogenic c.2373dup p.(Trp792fs) and c.2827C>T p.(Arg943*) mutations, and two were homozygous for the c.2373dup and c.2827C>T mutations. All patients with biallelic truncating pathogenic mutations in MYBPC3 reported so far (n=21) were diagnosed with severe cardiomyopathy and/or died within the first few months of life. In 62% (13/21), septal defects or a patent ductus arteriosus accompanied cardiomyopathy. In contrast to heterozygous pathogenic mutations, homozygous or compound heterozygous truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects in approximately 60% of patients. PMID:25335496

  19. Distribution of late gadolinium enhancement in various types of cardiomyopathies:Significance in differential diagnosis, clinical features and prognosis

    Institute of Scientific and Technical Information of China (English)

    Hiroshi; Satoh; Makoto; Sano; Kenichiro; Suwa; Takeji; Saitoh; Mamoru; Nobuhara; Masao; Saotome; Tsuyoshi; Urushida; Hideki; Katoh; Hideharu; Hayashi

    2014-01-01

    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.

  20. Treatment of keloids and hypertrophic scars

    Directory of Open Access Journals (Sweden)

    Mutalik Sharad

    2005-01-01

    Full Text Available Clinicians always find it difficult to treat hypertrophic scars and keloids. Various treatment modalities are available. Intralesional corticosteroids, topical applications, cryotherapy, surgery, laser therapy, and silicone sheeting are the widely used options. Radiation therapy can also help in cases of recalcitrant keloids. Most recently, pulsed-dye laser has been successfully used to treat keloids and hypertrophic scars. There are no set guidelines for the treatment of keloids. Treatment has to be individualized depending upon the distribution, size, thickness, and consistency of the lesions and association of inflammation. A combination approach to therapy seems to be the best option.

  1. Hypoxia-driven glycolytic and fructolytic metabolic programs: Pivotal to hypertrophic heart disease.

    Science.gov (United States)

    Mirtschink, Peter; Krek, Wilhelm

    2016-07-01

    Pathologic cardiac growth is an adaptive response of the myocardium to various forms of systemic (e.g. pressure overload) or genetically-based (e. g. mutations in genes encoding sarcomeric proteins) stress. It represents a key aspect of different types of heart disease including aortic stenosis (AS) and hypertrophic cardiomyopathy (HCM). While many of the pathophysiological and hemodynamical aspects of pathologic cardiac hypertrophy have been uncovered during the last decades, its underlying metabolic determinants are only beginning to come into focus. Here, we review the epidemiological evidence and pathological features of hypertrophic heart disease in AS and HCM and consider in this context the development of microenvironmental tissue hypoxia as a key component of the heart's growth response to pathologic stress. We particularly reflect on recent evidence illustrating how activation of hypoxia-inducible factor (HIF) drives glycolytic and fructolytic metabolic programs to maintain ATP generation and support anabolic growth of the pathologically-stressed heart. Finally we discuss how this metabolic programs, when protracted, deprive the heart of energy leading ultimately to heart failure. This article is part of a Special Issue entitled: Cardiomyocyte Biology: Integration of Developmental and Environmental Cues in the Heart edited by Marcus Schaub and Hughes Abriel.

  2. Fast 3-Breath-Hold 3-Dimensional Tagging Cardiac Magnetic Resonance in Patients with Hypertrophic Myocardial Diseases: A Feasibility Study

    Directory of Open Access Journals (Sweden)

    Yasuo Amano

    2016-01-01

    Full Text Available Tagging CMR has been established as the standard reference for measurement of myocardial strain. The current 2D tagging technique requires multiple breath-holds to cover the whole heart and cannot show the 3D motions of the left ventricle. We performed fast 3-breath-hold 3D tagging with localized tagging preparation and complementary spatial modulation of magnetization in 10 patients with hypertrophic myocardial diseases and 6 normal volunteers. The left wall motion was observed at any view angle, which allowed for the identification of regional and global hypokinesis using the fast 3D tagging. Although a decrease in the circumferential strain and LGE were observed at the basal septum in hypertrophic cardiomyopathy, they were not located together in each patient. In hypertensive heart disease, the decrease in circumferential strain was observed more widely than LGE, and the summed strain of all segments was significantly decreased. The decrease in strain and LGE were observed diffusely in cardiac amyloidosis. In conclusion, fast 3-breath-hold 3D tagging is feasible for the regional and global strain analysis. The location of reduced circumferential strain is not necessarily the same as that of LGE and is related to the global cardiac function in patients with hypertrophic myocardial diseases.

  3. Genetics Home Reference: arrhythmogenic right ventricular cardiomyopathy

    Science.gov (United States)

    ... Genetics Home Health Conditions ARVC arrhythmogenic right ventricular cardiomyopathy Enable Javascript to view the expand/collapse boxes. ... Open All Close All Description Arrhythmogenic right ventricular cardiomyopathy ( ARVC ) is a form of heart disease that ...

  4. Pathophysiology and meaning of washout rate in hypertrophic heart

    International Nuclear Information System (INIS)

    The present study was attempted to clarify clinically the pathogenesis of hypertensive cardiac hypertrophy (HT) and hypertrophic cardiomyopathy (HCM). The exercise thallium-201 (Tl-201) myocardial scintigraphy by bicycle ergometer was performed in three groups: control, HT and HCM. The scintigrams were evaluated by circumferential profile analysis. Furthermore, the change of Tl-201 dynamics of exercise Tl-201 scintigraphy with verapamil injection was compared with the change of coronary sinus flow after verapamil injection at cardiac catheterization. The analysis of exercise Tl-201 scintigraphy without verapamil injection showed that initial uptake was not different among the three groups, but washout rate at three hours after Tl-201 injection (WR3) was different among the three groups. Although WR3 of HT was not different from that of control, WR3 of HCM was lower than that of control. Comparison of WR3 with and without verapamil was performed. Although WR3 with verapamil injection was equal to that without verapamil injection in control and HT, WR3 with verapamil injection decreased compared to that without verapamil injection in HCM. As an index at the time that circulation changes rapidly and on a large scale, washout rate at one hour after Tl-201 injection (WR1) was calculated. WR1 without verapamil injection was not different in the three groups and did not differ from that with verapamil injection in each group. By intravenous administration of verapamil, coronary sinus flow (CSF) increased to the same extent in the three groups. And the increment of CSF was not different in the three groups. (J.P.N.)

  5. [Levosimendan for septic shock with takotsubo cardiomyopathy].

    Science.gov (United States)

    Schlürmann, C-N; Reinöhl, J; Kalbhenn, J

    2016-01-01

    As a stress-induced disease, takotsubo cardiomyopathy can also occur in septic syndromes; however, the hemodynamic management is fundamentally different from the treatment approaches for classical septic cardiomyopathy, as beta mimetics can increase the heart failure symptoms in takotsubo cardiomyopathy. This article reports the case of an 82-year-old female patient who presented with acute abdomen due to adhesion ileus and takotsubo cardiomyopathy, developed severe septic shock with peritonitis and could be successfully hemodynamically stabilized with levosimendan.

  6. Peripartum cardiomyopathy and dilated cardiomyopathy: different at heart.

    Science.gov (United States)

    Bollen, Ilse A E; Van Deel, Elza D; Kuster, Diederik W D; Van Der Velden, Jolanda

    2014-01-01

    Peripartum cardiomyopathy (PPCM) is a severe cardiac disease occurring in the last month of pregnancy or in the first 5 months after delivery and shows many similar clinical characteristics as dilated cardiomyopathy (DCM) such as ventricle dilation and systolic dysfunction. While PPCM was believed to be DCM triggered by pregnancy, more and more studies show important differences between these diseases. While it is likely they share part of their pathogenesis such as increased oxidative stress and an impaired microvasculature, discrepancies seen in disease progression and outcome indicate there must be differences in pathogenesis as well. In this review, we compared studies in DCM and PPCM to search for overlapping and deviating disease etiology, pathogenesis and outcome in order to understand why these cardiomyopathies share similar clinical features but have different underlying pathologies. PMID:25642195

  7. Peripartum cardiomyopathy and dilated cardiomyopathy: different at heart

    Directory of Open Access Journals (Sweden)

    Ilse Anne Elise Bollen

    2015-01-01

    Full Text Available Peripartum cardiomyopathy (PPCM is a severe cardiac disease occurring in the last month of pregnancy or in the first 5 months after delivery and shows many similar clinical characteristics as dilated cardiomyopathy (DCM such as ventricle dilation and systolic dysfunction. While PPCM was believed to be DCM triggered by pregnancy, more and more studies show important differences between these diseases. While it is likely they share part of their pathogenesis such as increased oxidative stress and an impaired microvasculature, discrepancies seen in disease progression and outcome indicate there must be differences in pathogenesis as well. In this review, we compared studies in DCM and PPCM to search for overlapping and deviating disease etiology, pathogenesis and outcome in order to understand why these cardiomyopathies share similar clinical features but have different underlying pathologies.

  8. Pathogenesis of Arrhythmogenic Cardiomyopathy.

    Science.gov (United States)

    Asimaki, Angeliki; Kleber, Andre G; Saffitz, Jeffrey E

    2015-11-01

    Arrhythmogenic cardiomyopathy (ACM) is a primary myocardial disease. It is characterized by frequent ventricular arrhythmias and increased risk of sudden cardiac death typically arising as an early manifestation before the onset of significant myocardial remodelling. Myocardial degeneration, often confined to the right ventricular free wall, with replacement by fibrofatty scar tissue, develops in many patients. ACM is a familial disease but genetic penetrance can be low and disease expression is highly variable. Inflammation might promote disease progression. It also appears that exercise increases disease penetrance and accelerates its development. More than 60% of probands harbour mutations in genes that encode desmosomal proteins, which has raised the possibility that defective cell-cell adhesion might play a role in disease pathogenesis. Recent advances have implicated changes in the canonical wingless-type mouse mammary tumour virus integration site (Wnt)/β-catenin and Hippo signalling pathways and defects in forwarding trafficking of ion channels and other proteins to the intercalated disk in cardiac myocytes. In this review we summarize the current understanding of the pathogenesis of ACM and highlight future research directions. PMID:26199027

  9. T1 mapping in differentiation of diffuse myocardial disease in hypertrophic and dilative cardiomyopathy

    NARCIS (Netherlands)

    Puntmann, V.O.; Pastor, A.; Chen, Z.; Voigt, T.; Karim, R.; Rhode, K.; Razavi, R. S.; Schaeffter, T.; Nagel, E.

    2013-01-01

    T1 mapping was proposed as potentially valuable in quantitative assessment of diffuse myocardial fibrosis. We aimed to determine its role in differentiation of healthy myocardium from diffuse fibrosis in clinical setting. Conclusions: We demonstrate that nativeand post-contrast T1 values and their r

  10. 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.

  11. MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Distelmaier, F.; Haack, T.B.; Catarino, C.B.; Gallenmuller, C.; Rodenburg, R.J.T.; Strom, T.M.; Baertling, F.; Meitinger, T.; Mayatepek, E.; Prokisch, H.; Klopstock, T.

    2015-01-01

    Defects in mitochondrial translation may lead to combined respiratory chain deficiency and typically cause childhood-onset multisystem disease. Only recently, a homozygous missense mutation (c.467T > G, p.Leu156Arg) in MRPL44, encoding a protein of the large subunit of the mitochondrial ribosome,

  12. Capnocytophaga ochracea-related Bacterium Bacteremia in a Hypertrophic Cardiomyopathy Patient without Neutropenia.

    Science.gov (United States)

    Ito, Shimpei; Hagiya, Hideharu; Kimura, Keigo; Nishi, Isao; Yoshida, Hisao; Kioka, Hidetaka; Ohtani, Tomohito; Yamaguchi, Osamu; Tanabe, Kazuaki; Tomono, Kazunori; Sakata, Yasushi

    2016-01-01

    Gram-negative fusiform rods were detected in a blood culture obtained from a 63-year-old man who had been hospitalized for a long duration for severe heart failure. Although the organism could not be identified using a conventional method, it was finally identified as a bacterium of the Capnocytophaga ochracea group based on the results of biochemical testing, 16S rRNA sequencing and a matrix-assisted laser desorption ionization time-of-flight mass spectrometry analysis. Although neutropenic patients with poor oral hygiene are exclusively vulnerable to Capnocytophaga bacteremia, this case was unique because such predisposing conditions were not noted. A multi-centered investigation is warranted for a better understanding of this clinically rare, but potentially pathogenic organism. PMID:27629977

  13. Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

    DEFF Research Database (Denmark)

    Ho, Carolyn Y; Carlsen, Christian; Thune, Jens Jakob;

    2009-01-01

    overt disease despite normal ejection fraction. We propose that diastolic dysfunction is an early consequence of sarcomere mutations, whereas systolic dysfunction results from mutations combined with subsequent pathological remodeling. Identifying mechanistic pathways triggered by these mutations may...

  14. Constructing "best interests": genetic testing of children in families with hypertrophic cardiomyopathy

    NARCIS (Netherlands)

    Geelen, E.; Hoyweghen, I. Van; Doevendans, P.A.; Marcelis, C.L.M.; Horstman, K.

    2011-01-01

    Professional guidelines on genetic testing of children have recently shifted their focus from protecting the child's autonomous choice to professionals, together with parents, striving to work in the child's "best interest." This notion of "best interest" allows room for therapeutical as well as psy

  15. Left ventricular remodeling and fibrosis: Sex differences and relationship with diastolic function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    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

  16. Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria

    NARCIS (Netherlands)

    G. Di Rosa; F. Deodato; F.J. Loupatty; C. Rizzo; R. Carrozzo; F.M. Santorelli; S. Boenzi; A. D'Amico; G. Tozzi; E. Bertini; A. Maiorana; R.J.A. Wanders; C. Dionisi-Vici

    2006-01-01

    3-Methylglutaconic aciduria is the biochemical marker of several inherited metabolic diseases. Four types of 3-methylglutaconic aciduria can be distinguished. In the type I form, accumulation of 3-methylglutaconate is due to deficient activity of 3-methylglutaconyl-CoA hydratase, an enzyme of the le

  17. Hypertrophic cardiomyopathy: Prevalence, hypertrophy patterns, and their clinical and ECG findings in a hospital at Qatar

    Directory of Open Access Journals (Sweden)

    Sherif M Helmy

    2011-01-01

    Conclusion: The prevalence of HCM in our population group is 0.13% with a male predominance (12:1. There was a diversity of clinical presentation, ECG abnormalities and patterns of LV hypertrophy among HCM patients.

  18. Complete excision of large invasive retroperitoneal paraganglioma mislabelled as hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Ahsan, Tasnim; Latif, Amir; Sohail, Sara; Jabeen, Rukshanda; Rehman, Urooj Lal

    2016-01-01

    Paraganglioma originates from chromaffin cells of adrenal medulla and autonomic paraganglia, which are derived from the neural crest cells. Paragangliomas are half as common as pheochromocytomas with 69% occurring in head and neck, 22% in abdomen and pelvis and 10% in the thorax. About 70% paragangliomas are sporadic, 30% are hereditary, having identifiable germline mutations of Succinate Dehydrogenase enzyme (SDH). PMID:26712193

  19. Primary hypertrophic osteoarthropathy: ultrasound and MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Adams, Brook; Kraft, Jeannette K. [Leeds Children' s Hospital at The Leeds General Infirmary, Clarendon Wing Radiology Department, Leeds, West Yorkshire (United Kingdom); Amin, Tania; Leone, Valentina; Wood, Mark [Leeds Children' s Hospital at The Leeds General Infirmary, Department of Paediatric Rheumatology, Leeds (United Kingdom)

    2016-05-15

    Primary hypertrophic osteoarthropathy is a rare genetic disorder related to failures in prostaglandin metabolism. Patients present with joint pain, limb enlargement, skin thickening and finger clubbing. Radiographs show characteristic periosteal reaction and thickening along the long bones. We present MRI and US findings in a child with the condition. Ultrasound showed echogenic tissue surrounding the long bones, presumably reflecting oedema and inflammatory tissue. Doppler sonograms demonstrated increased vascularity on the surface of some superficial bony structures. (orig.)

  20. Primary hypertrophic osteoarthropathy: ultrasound and MRI findings

    International Nuclear Information System (INIS)

    Primary hypertrophic osteoarthropathy is a rare genetic disorder related to failures in prostaglandin metabolism. Patients present with joint pain, limb enlargement, skin thickening and finger clubbing. Radiographs show characteristic periosteal reaction and thickening along the long bones. We present MRI and US findings in a child with the condition. Ultrasound showed echogenic tissue surrounding the long bones, presumably reflecting oedema and inflammatory tissue. Doppler sonograms demonstrated increased vascularity on the surface of some superficial bony structures. (orig.)

  1. Clinical analyses of perinuclear antineutrophil cytoplasmic antibody associated hypertrophic pachymeningitis

    Institute of Scientific and Technical Information of China (English)

    赵鹏

    2013-01-01

    Objective To explore the clinical characteristics,diagnosis,treatment and prognosis of perinuclear antineutrophil cytoplasmic antibody(p-ANCA)associated hypertrophic pachymeningitis.Methods A retrospective study

  2. 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

    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 years, the rate......BACKGROUND: Recommendations for presymptomatic screening of relatives of cardiomyopathy patients are based on findings from tertiary centers. Cardiomyopathy inheritance patterns are fairly well understood, but how cardiomyopathy in younger persons (years) aggregates in families...... at the population level is unclear. In a nationwide cohort, we examined the risk of cardiomyopathy by family history of premature death (years) from cardiomyopathy. METHODS AND RESULTS: By linking Danish national register data, we constructed a cohort of 3.9 million persons born from 1950 to 2008. We...

  3. Genetics Home Reference: dilated cardiomyopathy with ataxia syndrome

    Science.gov (United States)

    ... dilated cardiomyopathy with ataxia syndrome dilated cardiomyopathy with ataxia syndrome Enable Javascript to view the expand/collapse ... Open All Close All Description Dilated cardiomyopathy with ataxia (DCMA) syndrome is an inherited condition characterized by ...

  4. Keshan disease and mitochondrial cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    YANG; Fuyu

    2006-01-01

    Keshan disease (KD) is a potentially fatal form of cardiomyopathy (disease of the heart muscle) endemic in certain areas of China. From 1984 to 1986, a national comprehensive scientific investigation on KD in Chuxiong region of Yunnan Province in the southwest China was conducted. The investigation team was composed of epidemiologists, clinic doctors, pathologists, biochemists, biophysicists and specialists in ecological environment. Results of pathological, biochemical and biophysical as well as clinical studies showed: an obvious increase of enlarged and swollen mitochondria with distended crista membranes in myocardium from patients with KD; significant reductions in the activity of oxidative phosphorylation (succinate dehydrogenase, cytochrome oxidase, succinate oxidase, H+-ATPase) of affected mitochondria; decrease in CoQ, cardiolipin, Se and GSHPx activity, while obvious increase in the Ca2+ content. So, it was suggested that mitochondria are the predominant target of the pathogenic factors of KD. Before Chuxiong KD survey only a few cases of mitochondrial cardiomyopathy were studied. During the multidisciplinary scientific investigation on KD in Chuxiong a large amount of samples from KD cases and the positive controls were examined. On the basis of the results obtained it was suggested that KD might be classified as a "Mitochondrial Cardiomyopathy" endemic in China. This is one of the achievements in the three years' survey in Chuxiong and is valuable not only to the deeper understanding of pathogenic mechanism of KD but also to the study of mitochondrial cardiomyopathy in general.Keshan disease is not a genetic disease, but is closely related to the malnutrition (especially microelement Se deficiency). KD occurs along a low Se belt, and Se supplementation has been effective in prevention of such disease. The incidence of KD has sharply decreased along with the steady raise of living standard and realization of preventive measures. At present, patients of

  5. Idiopathic hypertrophic cranial pachymeningitis associated with Sweet's Syndrome

    International Nuclear Information System (INIS)

    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

  6. Hypertrophic osteopathy associated with hepatocellular carcinoma in a dog

    OpenAIRE

    Randall, Victoria D.; Souza, Carlos; Vanderhart, Daniel; Boston, Sarah

    2015-01-01

    A 9-year-old spayed female dog diagnosed with hepatocellular carcinoma and hypertrophic osteopathy was negative for additional lesions on computed tomography of the thorax and abdomen. Resection of the affected liver lobe resulted in resolution of clinical signs. This is the first case of hypertrophic osteopathy secondary to hepatocellular carcinoma.

  7. Periostin induces fibroblast proliferation and myofibroblast persistence in hypertrophic scarring.

    Science.gov (United States)

    Crawford, Justin; Nygard, Karen; Gan, Bing Siang; O'Gorman, David Brian

    2015-02-01

    Hypertrophic scarring is characterized by the excessive development and persistence of myofibroblasts. These cells contract the surrounding extracellular matrix resulting in the increased tissue density characteristic of scar tissue. Periostin is a matricellular protein that is abnormally abundant in fibrotic dermis, however, its roles in hypertrophic scarring are largely unknown. In this report, we assessed the ability of matrix-associated periostin to promote the proliferation and myofibroblast differentiation of dermal fibroblasts isolated from the dermis of hypertrophic scars or healthy skin. Supplementation of a thin type-I collagen cell culture substrate with recombinant periostin induced a significant increase in the proliferation of hypertrophic scar fibroblasts but not normal dermal fibroblasts. Periostin induced significant increases in supermature focal adhesion formation, α smooth muscle actin levels and collagen contraction in fibroblasts cultured from hypertrophic scars under conditions of increased matrix tension in three-dimensional type-I collagen lattices. Inhibition of Rho-associated protein kinase activity significantly attenuated the effects of matrix-associated periostin on hypertrophic scar fibroblasts and myofibroblasts. Depletion of endogenous periostin expression in hypertrophic scar myofibroblasts resulted in a sustained decrease in α smooth muscle actin levels under conditions of reducing matrix tension, while matrix-associated periostin levels caused the cells to retain high levels of a smooth muscle actin under these conditions. These findings indicate that periostin promotes Rho-associated protein kinase-dependent proliferation and myofibroblast persistence of hypertrophic scar fibroblasts and implicate periostin as a potential therapeutic target to enhance the resolution of scars.

  8. Mitochondrial Dysfunction in Diabetic Cardiomyopathy

    OpenAIRE

    Jennifer G. Duncan

    2011-01-01

    Cardiovascular disease is common in patients with diabetes and is a significant contributor to the high mortality rates associated with diabetes. Heart failure is common in diabetic patients, even in the absence of coronary artery disease or hypertension, an entity known as diabetic cardiomyopathy. Evidence indicates that myocardial metabolism is altered in diabetes, which likely contributes to contractile dysfunction and ventricular failure. The mitochondria are the center of metabolism, and...

  9. Takotsubo cardiomyopathy: a historical note

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    @@ To the Editor: I read with interest the case report of Takotsubo cardiomyopathy in a Chinese woman.1 Unfortunately, the authors mistakenly attributed the original description of this syndrome to Tsuchihashi et al in 2001.2Actually Dote et al3 first described this syndrome in 1991, ten years before Tsuchihashi et al did.2 Incidentally, the authors did make a reference in their case report to the article by Dote et al3 which was cited as reference 1.

  10. Skeletal muscle involvement in cardiomyopathies.

    Science.gov (United States)

    Limongelli, Giuseppe; D'Alessandro, Raffaella; Maddaloni, Valeria; Rea, Alessandra; Sarkozy, Anna; McKenna, William J

    2013-12-01

    The link between heart and skeletal muscle disorders is based on similar molecular, anatomical and clinical features, which are shared by the 'primary' cardiomyopathies and 'primary' neuromuscular disorders. There are, however, some peculiarities that are typical of cardiac and skeletal muscle disorders. Skeletal muscle weakness presenting at any age may indicate a primary neuromuscular disorder (associated with creatine kinase elevation as in dystrophinopathies), a mitochondrial disease (particularly if encephalopathy, ocular myopathy, retinitis, neurosensorineural deafness, lactic acidosis are present), a storage disorder (progressive exercise intolerance, cognitive impairment and retinitis pigmentosa, as in Danon disease), or metabolic disorders (hypoglycaemia, metabolic acidosis, hyperammonaemia or other specific biochemical abnormalities). In such patients, skeletal muscle weakness usually precedes the cardiomyopathy and dominates the clinical picture. Nevertheless, skeletal involvement may be subtle, and the first clinical manifestation of a neuromuscular disorder may be the occurrence of heart failure, conduction disorders or ventricular arrhythmias due to cardiomyopathy. ECG and echocardiogram, and eventually, a more detailed cardiovascular evaluation may be required to identify early cardiac involvement. Paediatric and adult cardiologists should be proactive in screening for neuromuscular and related disorders to enable diagnosis in probands and evaluation of families with a focus on the identification of those at risk of cardiac arrhythmia and emboli who may require specific prophylactic treatments, for example, pacemaker, implantable cardioverter-defibrillator and anticoagulation. PMID:24149064

  11. [Cirrhotic cardiomyopathy: a specific entity].

    Science.gov (United States)

    Brondex, A; Arlès, F; Lipovac, A-S; Richecoeur, M; Bronstein, J-A

    2012-04-01

    Cirrhosis is a frequent and severe condition, which is the late stage of numerous chronic liver diseases. It is associated with major hemodynamic alterations characteristic of hyperdynamic circulation and with a series of structural, functional, electrophysiological and biological heart abnormalities termed cirrhotic cardiomyopathy. The pathogenesis of this syndrome is multifactorial. It is usually clinically latent or mild, likely because the peripheral vasodilatation significantly reduces the left ventricle afterload. However, sudden changes of hemodynamic state (vascular filling, surgical or transjugular intrahepatic porto-systemic shunts, peritoneo-venous shunts and orthotopic liver transplantation) or myocardial contractility (introduction of beta-blocker therapy) can unmask its presence, and sometimes convert latent to overt heart failure. Cirrhotic cardiomyopathy may also contribute to the pathogenesis of hepatorenal syndrome. This entity has been described recently, and its diagnostic criteria are still under debate. To date, current management recommendations are empirical, nonspecific measures. Recognition of cirrhotic cardiomyopathy depends on a high level of awareness for the presence of this syndrome, particularly in patients with advanced cirrhosis who undergo significant surgical, pharmacological or physiological stresses. PMID:22115174

  12. Cardiomyopathies and the Armed Forces.

    Science.gov (United States)

    Holdsworth, D A; Cox, A T; Boos, C; Hardman, R; Sharma, S

    2015-09-01

    Cardiomyopathies are a group of heterogeneous myocardial diseases that are frequently inherited and are a recognised cause of premature sudden cardiac death in young individuals. Incomplete expressions of disease and the overlap with the physiological cardiac manifestations of regular intensive exercise create diagnostic challenges in young athletes and military recruits. Early identification is important because sudden death in the absence of prodromal symptoms is a common presentation, and there are several therapeutic strategies to minimise this risk. This paper examines the classification and clinical features of cardiomyopathies with specific reference to a military population and provides a detailed account of the optimum strategy for diagnosis, indications for specialist referral and specific guidance on the occupational significance of cardiomyopathy. A 27-year-old Lance Corporal Signaller presents to his Regimental medical officer (RMO) after feeling 'light-headed' following an 8 mile unloaded run. While waiting to see the RMO, the medical sergeant records a 12-lead ECG. The ECG is reviewed by the RMO immediately prior to the consultation and shows voltage criteria for left ventricular (LV) hypertrophy and inverted T-waves in II, III, aVF and V1-V3 (Figure 1). This Lance Corporal is a unit physical training instructor and engages in >10 h of aerobic exercise per week. He is a non-smoker and does not have any significant medical history. PMID:26246349

  13. Setting up Multiplex Panels for Genetic Testing of Familial Hy¬pertrophic Cardiomyopathy Based on Linkage Analysis

    Directory of Open Access Journals (Sweden)

    Hoorieh SAGHAFI

    2016-03-01

    Full Text Available Background: Familial hypertrophic cardiomyopathy (HCM is caused by mutations in genes encoding cardiac sarcomere proteins. Nowadays genetic testing of HCM plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. The aim of this study was developing a reliable testing strategy for HCM based on linkage analysis and appropriate for Iranian population.Methods: Six panels of four microsatellite markers surrounding MYH7, MYBPC3, TNNT2, TNNI3, TPM1, and MYL2 genes (24 markers in total were selected for multiplex PCR and fragment length analysis. Characteristics of markers and informativeness of the panels were evaluated in 50 unrelated Iranians. The efficacy of the strategy was verified in a family with HCM.Results: All markers were highly polymorphic. The panels were informative in 96-100% of samples. Multipoint linkage analysis excluded the linkage between the disease and all six genes by obtaining maximum LOD score ≤-2.Conclusion: This study suggests a reliable genetic testing method based on linkage analysis between 6 sarcomere genes and familial HCM. It could be applied for diagnostic, predictive, or screening testing in clinical setting. Keywords: Cardiomyopathy, Hypertrophic, Genetic linkage, Diagnosis 

  14. Blepharoptosis and hypertrophic osteoarthropathy: A case report

    Directory of Open Access Journals (Sweden)

    Aysun Sanal Dogan

    2016-01-01

    Full Text Available A 52-year-old male patient presented to our hospital with a history of secondary hypertrophic osteoarthropathy (HOA associated with an abdominal neoplasia and blepharoptosis. He had finger clubbing, hyperhidrosis, and hypertrichosis. He also had a recent history of extensive abdominal surgery with a pathology report of myelolipoma. Routine blood work was unremarkable. Upper eyelid reconstruction with blepharoplasty, upper eyelid wedge resection, and brow suspension was performed to address his eyelid concerns. By this case report, we would like to attract notice that the eyelid involvement may be a part of HOA and to emphasize the importance of systemic and pathologic evaluation in failed blepharoptosis surgery.

  15. Blepharoptosis and hypertrophic osteoarthropathy: A case report.

    Science.gov (United States)

    Dogan, Aysun Sanal; Acaroglu, Gölge; Dikmetas, Ozlem

    2016-04-01

    A 52-year-old male patient presented to our hospital with a history of secondary hypertrophic osteoarthropathy (HOA) associated with an abdominal neoplasia and blepharoptosis. He had finger clubbing, hyperhidrosis, and hypertrichosis. He also had a recent history of extensive abdominal surgery with a pathology report of myelolipoma. Routine blood work was unremarkable. Upper eyelid reconstruction with blepharoplasty, upper eyelid wedge resection, and brow suspension was performed to address his eyelid concerns. By this case report, we would like to attract notice that the eyelid involvement may be a part of HOA and to emphasize the importance of systemic and pathologic evaluation in failed blepharoptosis surgery. PMID:27221686

  16. Restrictive Cardiomyopathy: A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Bilal Bin Abdullah*, Mehboob.M.Kalburgi, Sahana Shetty and Satyasrinivas

    2011-04-01

    Full Text Available We report a 28 years old male presenting with heart failure. A thorough clinical evaluation directed us towards restrictive heart disease. Doppler echocardiographic study was used as a main modality of diagnosis and cardiac catheterization confirmed the diagnosis of idiopathic restrictive cardiomyopathy. We express the contribution of clinical findings and appropriate diagnostic measures in approaching a case of Restrictive cardiomyopathy (RCM.

  17. Cardiomyopathy in becker muscular dystrophy: Overview

    Science.gov (United States)

    Ho, Rady; Nguyen, My-Le; Mather, Paul

    2016-01-01

    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. PMID:27354892

  18. 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. PMID:27354892

  19. THE ROLE OF ECHOCARDIOGRAPHY IN THE DIFFERENTIAL DIAGNOSIS BETWEEN TRAINING INDUCED MYOCARDIAL HYPERTROPHY VERSUS CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    Tomas Venckunas

    2007-06-01

    Full Text Available Increased myocardial mass due to regular high-volume intense exercise training (so-called athlete's heart is not uncommon. Although directly correlated with the extent of training loads, myocardial hypertrophy is not present exclusively in well-trained or elite athletes. Athlete's heart is considered a physiological phenomenon with no known harmful consequences. However, extreme forms of myocardial hypertrophy due to endurance training resemble a structural heart disease such as hypertrophic cardiomyopathy, a condition associated with substantially increased risk of cardiac event. Endurance sports such as rowing and road cycling, rather than strength/power training, are most commonly associated with left ventricular (LV wall thickness compatible with hypertrophic cardiomyopathy. The differentiation between physiological and maladaptive cardiac hypertrophy in athletes is undoubtedly important, since untreated cardiac abnormality often possesses a real threat of premature death due to heart failure during intense physical exertion. Luckily, the distinction from pathological hypertrophy is usually straightforward using transthoracic echocardiography, as endurance athletes, in addition to moderately and proportionally thickened LV walls with normal acoustic density, tend to possess increased LV diameter. In more uncertain cases, a detailed evaluation of myocardial function using (tissue Doppler and contrast echocardiography is effective. When a doubt still remains, knowledge of an athlete's working capacity may be useful in evaluating whether the insidious cardiac pathology is absent. In such cases cardiopulmonary exercise testing typically resolves the dilemma: indices of aerobic capacity are markedly higher in healthy endurance athletes compared to patients. Other characteristics such as a decrease of LV mass due to training cessation are also discussed in the article

  20. PERIPARTUM CARDIOMYOPATHY--REPORT OF 16 CASES

    Institute of Scientific and Technical Information of China (English)

    杨佳欣; 刘俊涛; 边旭明

    2002-01-01

    Objective.To analyze the clinical characteristics of peripartum cardiomyopathy and to evaluate the different factors that influence the prognosis of the peripartum cardiomyopathy.Method.A retrospective review was undertaken on records of women who were diagnosed with peripartum cardiomyopathy at Peking Union Medical College Hospital between Jan.1983 and May 1999.Results.During the research period,only 16 pregnant women were documented as peripartum cardiomyopathy.Some of the women undertook ultrasonic cardiographic (UCG) examination that showed decreased systolic function.Seven women were complicated with pregnancy induced hypertension.Three died of disseminated intravascular coagulation,embolism and cardiogenic shock respectively.Conclusion.Early diagnosis of the peripartum cardiomyopathy is extremely important.The UCG can provide helpful information on disease progression or regression.

  1. Ergotamine-Induced Takotsubo Cardiomyopathy.

    Science.gov (United States)

    Ozpelit, Ebru; Ozpelit, Mehmet E; Akdeniz, Bahri; Göldeli, Özhan

    2016-01-01

    Takotsubo cardiomyopathy (TC) is a recently increasing diagnosed disease showed by transient apical or mid-apical left ventricular dysfunction. It is known as a disease of postmenopausal women, which is usually triggered by emotional or physical stress. Although the trigger is mostly endogenous, some drugs have also been reported as the cause. Published case reports of TC associated with drug usage consist of sympathomimetic drugs, inotropic agents, thyroid hormone, cocaine, and 5-fluorouracil. We present an unusual case of TC in which the possible trigger is ergotamine toxicity. PMID:25099482

  2. 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)

  3. Early onset cardiomyopathy associated with the mitochondrial tRNALeu((UUR)) 3271T>C MELAS mutation.

    Science.gov (United States)

    Brisca, Giacomo; Fiorillo, Chiara; Nesti, Claudia; Trucco, Federica; Derchi, Maria; Andaloro, Antonio; Assereto, Stefania; Morcaldi, Guido; Pedemonte, Marina; Minetti, Carlo; Santorelli, Filippo M; Bruno, Claudio

    2015-03-13

    Mitochondrial disorders are a heterogeneous group of diseases sharing a defect of the oxidative phosphorylation system. Point mutations in the mitochondrial DNA are a common cause of mitochondrial disorders and frequently affect the sequences encoding mitochondrial transfer RNAs. The m.3271T>C mutation in the mitochondrial tRNA(Leu(UUR)) is traditionally reported in patients with clinical features of the mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome and in mitochondrial diabetes. Here we describe the clinical, pathological, and molecular features of an Italian child and his asymptomatic mother, carrying the m.3271T>C mutation in the mitochondrial tRNA(Leu(UUR)) gene, in association with an unusual clinical phenotype dominated by hypertrophic cardiomyopathy and provide review literature of cases with this mutation. To the best of our knowledge, there are no reports describing the association of this mutation with cardiomyopathy, and our cases suggest that the m.3271T>C mutation has to be taken into account in the diagnostic approach of maternally inherited cardiomyopathies.

  4. The molecular basis of hypertrophic scars.

    Science.gov (United States)

    Zhu, Zhensen; Ding, Jie; Tredget, Edward E

    2016-01-01

    Hypertrophic scars (HTS) are caused by dermal injuries such as trauma and burns to the deep dermis, which are red, raised, itchy and painful. They can cause cosmetic disfigurement or contractures if craniofacial areas or mobile region of the skin are affected. Abnormal wound healing with more extracellular matrix deposition than degradation will result in HTS formation. This review will introduce the physiology of wound healing, dermal HTS formation, treatment and difference with keloids in the skin, and it also review the current advance of molecular basis of HTS including the involvement of cytokines, growth factors, and macrophages via chemokine pathway, to bring insights for future prevention and treatment of HTS. PMID:27574672

  5. Hypertrophic Obesity and Subcutaneous Adipose Tissue Dysfunction

    Directory of Open Access Journals (Sweden)

    Anna Meiliana

    2014-08-01

    Full Text Available BACKGROUND: Over the past 50 years, scientists have recognized that not all adipose tissue is alike, and that health risk is associated with the location as well as the amount of body fat. Different depots are sufficiently distinct with respect to fatty-acid storage and release as to probably play unique roles in human physiology. Whether fat redistribution causes metabolic disease or whether it is a marker of underlying processes that are primarily responsible is an open question. CONTENT: The limited expandability of the subcutaneous adipose tissue leads to inappropriate adipose cell expansion (hypertrophic obesity with local inflammation and a dysregulated and insulin-resistant adipose tissue. The inability to store excess fat in the subcutaneous adipose tissue is a likely key mechanism for promoting ectopic fat accumulation in tissues and areas where fat can be stored, including the intra-abdominal and visceral areas, in the liver, epi/pericardial area, around vessels, in the myocardium, and in the skeletal muscles. Many studies have implicated ectopic fat accumulation and the associated lipotoxicity as the major determinant of the metabolic complications of obesity driving systemic insulin resistance, inflammation, hepatic glucose production, and dyslipidemia. SUMMARY: In summary, hypertrophic obesity is due to an impaired ability to recruit and differentiate available adipose precursor cells in the subcutaneous adipose tissue. Thus, the subcutaneous adipose tissue may be particular in its limited ability in certain individuals to undergo adipogenesis during weight increase. Inability to promote subcutaneous adipogenesis under periods of affluence would favor lipid overlow and ectopic fat accumulation with negative metabolic consequences. KEYWORDS: obesity, adipogenesis, subcutaneous adipose tissue, visceral adipose tissue, adipocyte dysfunction.

  6. Idiopathic restrictive cardiomyopathy - perspectives from genetics studies. Is it time to redefine these disorders?

    Directory of Open Access Journals (Sweden)

    Ajay Bahl

    2012-05-01

    Full Text Available Idiopathic restrictive cardiomyopathy (IRC is a rare form of heart muscle disease. Genetic studies have revealed that in about half the cases, IRC forms part of the hereditary sarcomeric contractile protein disease spectrum. Mutations in several sarcomere protein encoding genes are detected in 33-66% of cases. Among these, the mutations most commonly involve TNNI3 and MYH7. There is a disproportionately high incidence of TNNI3 mutations in patients with restrictive physiology. De novo mutations are also frequently seen in this group of patients. IRC and hypertrophic cardiomyopathy (HCM with restrictive phenotype reflect the same or very similar disorders with different names due to arbitrary cut offs in the left ventricular wall thickness rather than two separate distinct diseases. HCM with restrictive physiology should be considered part of a continuous spectrum with IRC. This is because patients with HCM with restrictive phenotype bear far greater clinical and genetic resemblance to IRC than to rest of the HCM cohort.

  7. The MEF2A gene is excluded as a candidate in 3 families with cardiomyopathies that are not linked to myosin

    Energy Technology Data Exchange (ETDEWEB)

    Bachinski, L.L.; Abchee, A. [Baylor College of Medicine, Houston, TX (United States); Krahe, R. [Dupont Institute, Wilmington, DE (United States)] [and others

    1994-09-01

    Inherited cardiomyopathies, as exemplified by hypertrophic cardiomyopathy (HCM) and idiopathic dilated cardiomyopathy (DCM), are genetically heterogeneous disorders of the myocardium which serve as paradigms for the growth response of the heart to most stimuli. HCM is an autosomal dominant disease shown to be caused by at least 5 different genes, but {beta}-myosin heavy chain (MYH7) is the only one of these genes to be identified to date. No loci have as yet been identified for DCM. MEF2A is one of at least 4 known MEF2 genes which are members of the MADS box family of transcription factors. MEF2A is expressed in cardiac tissue; thus MEF2A is a logical candidate gene for these disorders of the cardiac growth response. We have investigated the possibility of linkage between a trinucleotide repeat polymorphism in the MEF2A gene and these cardiomyopathies is a DCM family and 2 HCM families not linked to MYH7. MEF2A was excluded as a candidate for DCM (LOD of -9.03) and HCM (LODs of-5.43 and -2.44) in these families. No expansion of this trinucleotide repeat was seen in 100 unrelated HCM probands or in the DCM family, which appears to exhibit anticipation.

  8. Left Ventricular Noncompaction: A Distinct Genetic Cardiomyopathy?

    Science.gov (United States)

    Arbustini, Eloisa; Favalli, Valentina; Narula, Nupoor; Serio, Alessandra; Grasso, Maurizia

    2016-08-30

    Left ventricular noncompaction (LVNC) describes a ventricular wall anatomy characterized by prominent left ventricular (LV) trabeculae, a thin compacted layer, and deep intertrabecular recesses. Individual variability is extreme, and trabeculae represent a sort of individual "cardioprinting." By itself, the diagnosis of LVNC does not coincide with that of a "cardiomyopathy" because it can be observed in healthy subjects with normal LV size and function, and it can be acquired and is reversible. Rarely, LVNC is intrinsically part of a cardiomyopathy; the paradigmatic examples are infantile tafazzinopathies. When associated with LV dilation and dysfunction, hypertrophy, or congenital heart disease, the genetic cause may overlap. The prevalence of LVNC in healthy athletes, its possible reversibility, and increasing diagnosis in healthy subjects suggests cautious use of the term LVNC cardiomyopathy, which describes the morphology but not the functional profile of the cardiomyopathy. PMID:27561770

  9. Unveiling nonischemic cardiomyopathies with cardiac magnetic resonance.

    Science.gov (United States)

    Aggarwal, Niti R; Peterson, Tyler J; Young, Phillip M; Araoz, Philip A; Glockner, James; Mankad, Sunil V; Williamson, Eric E

    2014-02-01

    Cardiomyopathy is defined as a heterogeneous group of myocardial disorders with mechanical or electrical dysfunction. Identification of the etiology is important for accurate diagnosis, treatment and prognosis, but continues to be challenging. The ability of cardiac MRI to non-invasively obtain 3D-images of unparalleled resolution without radiation exposure and to provide tissue characterization gives it a distinct advantage over any other diagnostic tool used for evaluation of cardiomyopathies. Cardiac MRI can accurately visualize cardiac morphology and function and also help identify myocardial edema, infiltration and fibrosis. It has emerged as an important diagnostic and prognostic tool in tertiary care centers for work up of patients with non-ischemic cardiomyopathies. This review covers the role of cardiac MRI in evaluation of nonischemic cardiomyopathies, particularly in the context of other diagnostic and prognostic imaging modalities. PMID:24417294

  10. [Ventricular tachyarrhythmias in patients with cardiomyopathy

    DEFF Research Database (Denmark)

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

    2008-01-01

    INTRODUCTION: The purpose of this study was to determine the number and distribution of cardiomyopathies as the aetiology of ventricular tachyarrhythmias among patients discharged from the Department of Cardiology, Rigshospitalet. MATERIALS AND METHODS: The study was a retrospective review of...... patients discharged with the diagnostic codes ventricular tachycardia, ventricular fibrillation or premature ventricular contractions with cardiomyopathy as the presumed aetiology. Patients discharged during a period of 6 years and 5 months were included in the study. The patients were characterized 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...

  11. 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...... conventional cardiological assessment with non-cardiac and molecular parameters increases diagnostic accuracy and thus improves advice and treatment for patients and families....

  12. Takotsubo Cardiomyopathy: A New Perspective in Asthma

    Directory of Open Access Journals (Sweden)

    Fady Y. Marmoush

    2015-01-01

    Full Text Available Takotsubo cardiomyopathy (TCM is an entity of reversible cardiomyopathy known for its association with physical or emotional stress and may mimic myocardial infarction. We report an exceedingly rare case of albuterol-induced TCM with moderate asthma exacerbation. An interesting association that may help in understanding the etiology of TCM in the asthmatic population. Although the prognosis of TCM is excellent, it is crucial to recognize beta agonists as a potential stressor.

  13. The Mutations Associated with Dilated Cardiomyopathy

    OpenAIRE

    Ruti Parvari; Aviva Levitas

    2012-01-01

    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 f...

  14. RATIONAL PHARMACOTHERAPY IN TAKOTSUBO CARDIOMYOPATHY

    Directory of Open Access Journals (Sweden)

    S. Marchev

    2012-01-01

    Full Text Available Rational pharmacotherapy in Takotsubo cardiomyopathy is based on clinical picture and data of functional and laboratory investigations of concrete patient. In patients with hypotension and moderate-to-severe left ventricle outflow tract obstruction inotropic agents must not to be used because they can worsen the degree of obstruction. In these patients beta blockers can improve hemodynamics by causing resolution of the obstruction. If intraventricular thrombus is detected, anticoagulation for at least 3 months is recommended. The duration of anticoagulant therapy may be modified depending on the extent of cardiac function recovery and thrombus resolution. For patients without thrombus but with severe left ventricular dysfunction, anticoagulation is recommended until the akinesis or dyskinesis has resolved but not more than 3 months.

  15. Stimulant-related Takotsubo cardiomyopathy.

    Science.gov (United States)

    Butterfield, Mike; Riguzzi, Christine; Frenkel, Oron; Nagdev, Arun

    2015-03-01

    Takotsubo cardiomyopathy (TC) is a rare but increasingly recognized mimic of acute coronary syndrome. Patients present with angina,ST-segment changes on electrocardiogram (both elevations and depressions),and rapid rises in cardiac biomarkers. Many kinds of stressful events have been associated with TC, but only a handful of drug-related cases have previously been reported. We describe the case of a 58-year-old woman who developed TC 2 days after crack cocaine use, a diagnosis first suggested as bedside echocardiography in the emergency department.Recognition of the classic echocardiographic appearance of TC—apical hypokinesis causing “ballooning” of the left ventricle during systole—may greatly assist providers in the early identification of this condition. PMID:25308824

  16. Cardiomyopathy

    Science.gov (United States)

    ... Textbook of Cardiovascular Medicine . 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 65. McKenna WJ, Elliott P. ... eds. Goldman's Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 60. McMurray JJV, Pfeffer MA. ...

  17. Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy

    NARCIS (Netherlands)

    van Spaendonck-Zwarts, Karin Y.; Posafalvi, Anna; van den Berg, Maarten P.; Hilfiker-Kleiner, Denise; Bollen, Ilse A. E.; Sliwa, Karen; Alders, Marielle; AlMomani, Rowida; van Langen, Irene M.; van der Meer, Peter; Sinke, Richard J.; van der Velden, Jolanda; Van Veldhuisen, Dirk J.; van Tintelen, J. Peter; Jongbloed, Jan D. H.

    2014-01-01

    Aim Peripartum cardiomyopathy (PPCM) can be an initial manifestation of familial dilated cardiomyopathy (DCM). We aimed to identify mutations in families that could underlie their PPCM and DCM. Methods and results We collected 18 families with PPCM and DCM cases from various countries. We studied th

  18. Inhibited early immunologic response is associated with hypertrophic scarring.

    Science.gov (United States)

    Butzelaar, Liselotte; Schooneman, Dennis P M; Soykan, Ezgi A; Talhout, Wendy; Ulrich, Magda M W; van den Broek, Lenie J; Gibbs, Susan; Beelen, Robert H J; Mink van der Molen, Aebele B; Niessen, Frank B

    2016-10-01

    This study aimed to examine changes in the inflammatory response in early hypertrophic compared to normal wound healing. The immune system is thought to be involved in hypertrophic scar formation. However, the exact mechanism and time of onset of the derailment remain unknown. In a prospective observational study, skin biopsies were taken directly postwounding and 3 hours later from patients who had elective cardiothoracic surgery. The skin biopsies were analysed for mRNA, proteins and cells involved in the early inflammatory phase of wound healing. The endpoint was scar outcome (hypertrophic (HTS) or normal (NTS)) at one year after surgery. There were significant differences between the NTS and HTS groups regarding the fold changes of mRNA expression of P-selectin during surgery. Postoperative skin concentrations of inflammatory proteins IL-6, IL-8 and CCL2 were significantly lower in the HTS compared to the NTS group. Also, a trend of higher pre-operative M2 macrophage numbers was observed in the HTS group. Neutrophil numbers increased equally during surgery in both groups. The increase of P-selectin mRNA in hypertrophic wound healing could affect leucocyte migration. The decreased concentrations of inflammatory proteins in hypertrophic wound healing indicate a reduced inflammatory response, which has consequences for the treatment of hypertrophic scarring during the early inflammatory phase. In a conclusion, alterations of wound healing associated with hypertrophic scarring are visible as early as 3 hours postwounding and include a reduced rather than increased inflammatory protein response. PMID:27249786

  19. Is hypertrophic pyloric stenosis a secondary disease?

    Directory of Open Access Journals (Sweden)

    Fariba Tabrizian Namini

    2013-01-01

    Full Text Available Hypertrophic pyloric stenosis (HPS is the most common gastrointestinal obstructive disease in infants which requires surgery. Typical presentation is at 4-6 weeks of life but can present very earlier or congenitally. Here we present 3 cases of HPS which presented in the first day of life with co-existing malrotation, annular pancreas, and duodenal atresia. The exact etiology of HPS is not fully understood, however, genetic and maternal factors, hormonal factors, abnormalities of various components of the pyloric muscle, growth factors, extracellular matrix elements, nerve and ganglion cells synapses, nerve supporting cells, neurotransmitters and interstitial cells, drugs, and feeding have been implicated. In the HPS concomitant with a distal obstruction, mean that these obstructions may role in pathogenesis of HPS or may exacerbate other factors to produce HPS in a very early age or congenitally. The purpose of this manuscript is to present three cases of HPS in the first day of life with other GI anomalies. We hypothesize that the etiology of some cases of HPS may be secondary to distal intestinal obstructions especially when it presents very early in life, or at least to concern a distal obstructions in this very early presentation.

  20. MR imaging findings of hypertrophic olivary degeneration

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Do Joong; Jeon, Pyung; Kim, Dong Ik [Yonsei Univ. College of Medicine, Seoul (Korea, Republic of)

    1997-06-01

    To describe the magnetic resonance (MR) imaging findings of hypertrophic olivary degeneration (HOD) MR images of seven patients with HOD were retrospectively reviewed. Two were women and five were men, and they were aged between 48 and 65 (mean 58) years. Imaging examinations were performed with a 1.5-T unit, and the findings were used to evaluate the size and signal intensity of olivary lesions. The time interval from hemorrhagic ictus to MR imaging was between two and 30 months. Follow-up examinations were performed in two patients. All four patients with hemorrhages involving the central tegmental tract in the pons or midbrain showed ipsilateral HOD. Among these four, bilateral HOD was seen in one patient with hemorrhage involving the bilateral central tegmental tract, and in another with tegmental hemorrhage extending to the ipsilateral superior cerebellar peduncle. One patient with cerebellar hemorrhage involving the dentate nucleus had contralateral HOD. Two patients with multiple hemorrhages involving both the pons and cerebellum showed bilateral HOD. Axial MR images showed mild enlargement of the involved olivary mucleus, with high signal intensity on both proton density and T2 weighted images. There was no apparent enhancement on postcontrast T1-weighted images. MR imaging can clearly distinguish secondary olivary degeneration from underlying pathology involving the central tegmental tract in the pons or midbrain and cerebellum. These olivary abnormalities should not, however, be mistaken for primary medullary lesions.

  1. Keratinocyte-derived growth factors play a role in the formation of hypertrophic scars

    NARCIS (Netherlands)

    Niessen, FB; Andriessen, MP; Schalkwijk, J; Visser, L; Timens, W

    2001-01-01

    In predisposed individuals, wound healing can lead to hypertrophic scar or keloid formation, characterized by an overabundant extracellular matrix. It has recently been shown that hypertrophic scars are accompanied by abnormal keratinocyte differentiation and proliferation, and significantly increas

  2. Arrhythmogenic cardiomyopathy : diagnosis, genetic background, and risk management

    NARCIS (Netherlands)

    Groeneweg, J. A.; van der Heijden, J. F.; Dooijes, D.; van Veen, T. A. B.; van Tintelen, J. P.; Hauer, R. N.

    2014-01-01

    Arrhythmogenic cardiomyopathy (AC), also known as arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C), is a hereditary disease characterised by ventricular arrhythmias, right ventricular and/or left ventricular dysfunction, and fibrofatty replacement of cardiomyocytes. Patients with A

  3. Medicinal Plants for the Treatment of Hypertrophic Scars

    Directory of Open Access Journals (Sweden)

    Qi Ye

    2015-01-01

    Full Text Available Hypertrophic scar is a complication of wound healing and has a high recurrence rate which can lead to significant abnormity in aesthetics and functions. To date, no ideal treatment method has been established. Meanwhile, the underlying mechanism of hypertrophic scarring has not been clearly defined. Although a large amount of scientific research has been reported on the use of medicinal plants as a natural source of treatment for hypertrophic scarring, it is currently scattered across a wide range of publications. Therefore, a systematic summary and knowledge for future prospects are necessary to facilitate further medicinal plant research for their potential use as antihypertrophic scar agents. A bibliographic investigation was accomplished by focusing on medicinal plants which have been scientifically tested in vitro and/or in vivo and proved as potential agents for the treatment of hypertrophic scars. Although the chemical components and mechanisms of action of medicinal plants with antihypertrophic scarring potential have been investigated, many others remain unknown. More investigations and clinical trials are necessary to make use of these medical plants reasonably and phytotherapy is a promising therapeutic approach against hypertrophic scars.

  4. High Frequency QRS ECG Accurately Detects Cardiomyopathy

    Science.gov (United States)

    Schlegel, Todd T.; Arenare, Brian; Poulin, Gregory; Moser, Daniel R.; Delgado, Reynolds

    2005-01-01

    High frequency (HF, 150-250 Hz) analysis over the entire QRS interval of the ECG is more sensitive than conventional ECG for detecting myocardial ischemia. However, the accuracy of HF QRS ECG for detecting cardiomyopathy is unknown. We obtained simultaneous resting conventional and HF QRS 12-lead ECGs in 66 patients with cardiomyopathy (EF = 23.2 plus or minus 6.l%, mean plus or minus SD) and in 66 age- and gender-matched healthy controls using PC-based ECG software recently developed at NASA. The single most accurate ECG parameter for detecting cardiomyopathy was an HF QRS morphological score that takes into consideration the total number and severity of reduced amplitude zones (RAZs) present plus the clustering of RAZs together in contiguous leads. This RAZ score had an area under the receiver operator curve (ROC) of 0.91, and was 88% sensitive, 82% specific and 85% accurate for identifying cardiomyopathy at optimum score cut-off of 140 points. Although conventional ECG parameters such as the QRS and QTc intervals were also significantly longer in patients than controls (P less than 0.001, BBBs excluded), these conventional parameters were less accurate (area under the ROC = 0.77 and 0.77, respectively) than HF QRS morphological parameters for identifying underlying cardiomyopathy. The total amplitude of the HF QRS complexes, as measured by summed root mean square voltages (RMSVs), also differed between patients and controls (33.8 plus or minus 11.5 vs. 41.5 plus or minus 13.6 mV, respectively, P less than 0.003), but this parameter was even less accurate in distinguishing the two groups (area under ROC = 0.67) than the HF QRS morphologic and conventional ECG parameters. Diagnostic accuracy was optimal (86%) when the RAZ score from the HF QRS ECG and the QTc interval from the conventional ECG were used simultaneously with cut-offs of greater than or equal to 40 points and greater than or equal to 445 ms, respectively. In conclusion 12-lead HF QRS ECG employing

  5. Cardiomyopathy in captive African hedgehogs (Atelerix albiventris).

    Science.gov (United States)

    Raymond, J T; Garner, M M

    2000-09-01

    From 1994 to 1999, 16 captive African hedgehogs (Atelerix albiventris), from among 42 necropsy cases, were diagnosed with cardiomyopathy. The incidence of cardiomyopathy in this study population was 38%. Fourteen of 16 hedgehogs with cardiomyopathy were males and all hedgehogs were adult (>1 year old). Nine hedgehogs exhibited 1 or more of the following clinical signs before death: heart murmur, lethargy, icterus, moist rales, anorexia, dyspnea, dehydration, and weight loss. The remaining 7 hedgehogs died without premonitory clinical signs. Gross findings were cardiomegaly (6 cases), hepatomegaly (5 cases), pulmonary edema (5 cases), pulmonary congestion (4 cases), hydrothorax (3 cases), pulmonary infarct (1 case), renal infarcts (1 case), ascites (1 case), and 5 cases showed no changes. Histologic lesions were found mainly within the left ventricular myocardium and consisted primarily of myodegeneration, myonecrosis, atrophy, hypertrophy, and disarray of myofibers. All hedgehogs with cardiomyopathy had myocardial fibrosis, myocardial edema, or both. Other common histopathologic findings were acute and chronic passive congestion of the lungs, acute passive congestion of the liver, renal tubular necrosis, vascular thrombosis, splenic extramedullary hematopoiesis, and hepatic lipidosis. This is the first report of cardiomyopathy in African hedgehogs. PMID:11021439

  6. Peripartum cardiomyopathy – case series

    Science.gov (United States)

    Prasad, Gowri Sayi; Bhupali, Ashok; Prasad, Sayi; Patil, Ajit N.; Deka, Yashodhan

    2014-01-01

    Objectives To study the pattern of presentation, course of disease and outcome of pregnancy in Peripartum Cardiomyopathy. Methods A prospective study of sixteen cases of PPCM was conducted at Apple Saraswati Multispecialty Hospital and Dr. D.Y. Patil Medical College and Hospital, Kolhapur, Maharashtra, India from January 2006 to December 2012. Data included age distribution, parity, gestational age, symptoms and risk factors. Medical management and pregnancy outcome were documented. Serial echocardiography data was compiled for a period of one year. Results In our study 9/16 (56%) were primigravidae, 4/16 (25%) had pre-eclamsia and 6/16 (35%) had co-existing hypertension. The difference in Echocardiography parameters observed between recovered and non-recovered patients was significant: Left Ventricular End diastolic dimension (5.6 cm vs 6.06 cm), Left Ventricular Ejection Fraction (28.7% vs 22.4%) and Left Ventricular fractional shortening (17.5% vs 13.4%). Thirteen out of sixteen patients were followed up for a period of one year out of which 61% (8/13) patients recovered completely. There was one mortality. Conclusion PPCM is a diagnosis of exclusion. Majority were young primigravidae presenting postnatally. Pre-eclampsia and hypertension were risk factors. ECHO parameters were reliable predictors of recovery. Future pregnancies are better avoided. PMID:24814122

  7. 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.

  8. Treatment of Aseptic Hypertrophic Nonunion of the Lower Extremity with Less Invasive Stabilization System (New Approach to Hypertrophic Nonunion Treatment

    Directory of Open Access Journals (Sweden)

    Metin Uzun

    2015-01-01

    Full Text Available Aim. To evaluate whether aseptic hypertrophic nonunion in the long bones of the lower extremity can be treated successfully with LISS applied with closed methods without grafting. Materials and Methods. The study included 7 tibias and 9 femurs of 16 patients. All cases had hypertrophic nonunion. Initial surgical treatment was with intramedullary nailing in 14 cases, 6 of which had required an exchange of intramedullary nail. All the patients were treated with LISS plate with closed methods. Results. Union was obtained at mean 7 months in all patients. No implant loosening or breakage of the implant was observed and there was no requirement for secondary surgery. Conclusion. Cases of hypertrophic nonunion have excellent blood supply and biological potential. Therefore, there is no need for bone grafting and the addition of fracture stability is enough to achieve full union. Using a limited approach and percutaneous screw insertion, LISS provides fracture stabilization with soft tissue protection.

  9. Process of Hypertrophic Scar Formation: Expression of Eukaryotic Initiation Factor 6

    Institute of Scientific and Technical Information of China (English)

    Qing-Qing Yang; Si-Si Yang; Jiang-Lin Tan; Gao-Xing Luo; Wei-Feng He; Jun Wu

    2015-01-01

    Background:Hypertrophic scar is one of the most common complications and often causes the disfigurement or deformity in bum or trauma patients.Therapeutic methods on hypertrophic scar treatment have limitations due to the poor understanding of mechanisms of hypertrophic scar formation.To throw light on the molecular mechanism of hypertrophic scar formation will definitely improve the outcome of the treatment.This study aimed to illustrate the negative role ofeukaryotic initiation factor 6 (eIF6) in the process of human hypertrophic scar formation,and provide a possible indicator of hypertrophic scar treatment and a potential target molecule for hypertrophic scar.Methods:In the present study,we investigated the protein expression of eIF6 in the human hypertrophic scar of different periods by immunohistochemistry and Western blot analysis.Results:In the hypertrophic scar tissue,eIF6 expression was significantly decreased and absent in the basal layer of epidermis in the early period,and increased slowly and began to appear in the basal layer of epidermis by the scar formation time.Conclusions:This study confirmed that eIF6 expression was significantly related to the development of hypertrophic scar,and the eIF6 may be a target molecule for hypertrophic scar control or could be an indicator of the outcomes for other treatment modalities.

  10. Gastric emptying in adults treated for infantile hypertrophic pyloric stenosis

    DEFF Research Database (Denmark)

    Rasmussen, L; Oster-Jörgensen, E; Hansen, L P;

    1989-01-01

    The gastric emptying rate was scintigraphically determined in 6 women and 26 men who had undergone medical or surgical treatment for infantile hypertrophic pyloric stenosis a median of 29 years previously. Dyspeptic complaints were reported by four of the seven medically treated and nine of the 25...

  11. Hypertrophic osteopathy associated with a renal adenoma in a cat.

    Science.gov (United States)

    Johnson, Robert L; Lenz, Stephen D

    2011-01-01

    Hypertrophic osteopathy is a hyperostotic syndrome of the appendicular skeleton that is most commonly associated with intrathoracic neoplasia or inflammation. The condition is rarely associated with intra-abdominal lesions. The majority of cases have occurred in dogs and human beings, with fewer cases reported in cats, horses, and other species. A 15-year-old male neutered Domestic Shorthair cat presented for swollen limbs and difficulty in ambulation. Radiographs and gross postmortem revealed severe periosteal hyperostosis of the diaphysis and metaphysis of all 4 limbs, including the humerus, radius, ulna, carpi, metacarpi, femur, tibia, tarsi, metatarsi, and phalanges. The axial skeleton was spared. Hyperostotic lesions were characterized microscopically by lamellar bony trabeculae separated by adipocytes and scant hematopoietic tissue. In several areas, fibrovascular connective tissue, woven bone, and islands of cartilage were also present. A 2.5 cm × 2.5 cm perirenal neoplasm compressed the left kidney and adrenal gland. This mass consisted of well-differentiated tubules of cuboidal epithelial cells and was most consistent with a renal tubular adenoma, because mitotic figures were rare, and no distant metastases were found. Thoracic pathology was absent. Hyperostosis was consistent with hypertrophic osteopathy secondary to the renal adenoma. The pathogenesis of hypertrophic osteopathy is uncertain, but predominant theories point to increased peripheral circulation and angiogenesis as a key initiating event. Recent literature highlights the potential role of vascular endothelial growth factor and platelet-derived growth factor in the human condition. The mechanism by which this renal adenoma caused hypertrophic osteopathy is unknown.

  12. Canine hypertrophic osteopathy associated with extra-thoracic lesions

    OpenAIRE

    Headley Selwyn Arlington; Ribeiro Eduardo Alcântara; Santos Gustavo José Von G. dos; Bettini Carlos Maia; Mattos Júnior Ewaldo

    2005-01-01

    Canine hypertrophic osteopathy is described in a dog that presented extra-thoracic lesions, mainly in the liver. Hepatic lesions were characterized by necrosis, hemorrhage, severe hydropic degeneration of centrolobular hepatocytes, proliferation of epithelial cells of bile ducts, and mild biliary stasis. The disease syndrome was diagnosed based on clinical signs, radiological evaluation, and inspection of macerated bones.

  13. A case of hypertrophic osteoarthropathy in a Belgian blue cow

    OpenAIRE

    Guyot, Hugues; Sandersen, Charlotte; Rollin, Frédéric

    2011-01-01

    A 12-year-old cow was presented with chronic respiratory disease and lameness. Chronic pleuritis, pneumonia, and bronchial carcinoma were found as well as periosteal proliferation on limb bones. Ancillary tests and necropsy confirmed a combined pathology of pulmonary inflammation and neoplasm, and hypertrophic pulmonary osteopathy.

  14. Multicenter study on hepatitis C virus infection in patients with dilated cardiomyopathy. North Italy Transplant Program (NITP).

    Science.gov (United States)

    Prati, D; Poli, F; Farma, E; Picone, A; Porta, E; De Mattei, C; Zanella, A; Scalamogna, M; Gamba, A; Gronda, E; Faggian, G; Livi, U; Puricelli, C; Viganò, M; Sirchia, G

    1999-06-01

    Preliminary epidemiological and histological studies from Japan suggested that hepatitis C virus (HCV) infection has a role in the development of dilated cardiomyopathy (DCM). This multicenter study was conducted to verify this hypothesis on a large cohort of Italian patients with end-stage heart failure. Antibodies to HCV were determined in the 752 consecutive patients (608 males and 144 females; age, 53 +/- 13 years) who entered the waiting list for cardiac transplantation from 1995 to 1997 at the six cardiac surgery centers participating in the North Italy Transplant program. Three hundred and nine patients (41%) had dilated, 9 (1%) restrictive, and 4 (0.5%) hypertrophic cardiomyopathy; 284 patients (38%) had ischemic, 65 (9%) valvular, and 22 (3%) congenital heart disease; 5 patients (0.5%) had primary pulmonary hypertension; 54 patients (7%) had other or nonspecified heart disease. Overall, 41 of 752 patients (5.4%) resulted anti-HCV-reactive. Serological evidence of HCV infection was found in 12 of 309 patients with DCM (3.9%; 95% CI, 1.7-6.0), and in 29 of 443 without DCM (6.5%; 95% CI, 4.2-8.8), without statistical difference (difference of prevalence rate: 2.6%; 95% CI, -4.9 to 5.8). In conclusion, HCV does not seem to have a primary role in the pathogenesis of DCM. However, since our findings are in disagreement with those obtained in smaller series of patients of other ethnicity, large studies from different countries should be conducted.

  15. Update in cardiomyopathies and congestive heart failure

    Directory of Open Access Journals (Sweden)

    The Heart Hospital, London, UK and Monaldi Hospital, Naples, Italy

    2012-05-01

    Full Text Available This abstract book contains four reports and all abstracts presented to the Joint Meeting: Update in cardiomyopathies and congestive heart failure, 22-23 September 2011 - Naples, Italy, endorsed by the Working Group on Myocardial and Pericardial Diseases (WG 21 of the European Society of Cardiology (ESC.

  16. Celiac disease with pulmonary haemosiderosis and cardiomyopathy

    OpenAIRE

    Işikay, Sedat; Yilmaz, Kutluhan; Kilinç, Metin

    2012-01-01

    Celiac disease or pulmonary haemosiderosis can be associated with several distinguished conditions. Pulmonary haemosiderosis is a rare, severe and fatal disease characterised by recurrent episodes of alveolar haemorrhage, haemoptysis and anaemia. Association of pulmonary haemosiderosis and celiac disease is extremely rare. We describe a case of celiac disease presented with dilated cardiomyopathy and pulmonary haemosiderosis without gastrointestinal symptoms of celiac disease. In addition, vi...

  17. Clinical and molecular classification of cardiomyopathies

    Directory of Open Access Journals (Sweden)

    Franco Cecchi

    2012-07-01

    Full Text Available The term “cardiomyopathies” was used for the first time 55 years ago, in 1957. Since then awareness and knowledge of this important and complex group of heart muscle diseases have improved substantially. Over these past five decades a large number of definitions, nomenclature and schemes, have been advanced by experts and consensus panel, which reflect the fast and continued advance of the scientific understanding in the field. Cardiomyopathies are a heterogeneous group of inherited myocardial diseases, which represent an important cause of disability and adverse outcome. Although considered rare diseases, the overall estimated prevalence of all cardiomyopathies is at least 3% in the general population worldwide. Furthermore, their recognition is increasing due to advances in imaging techniques and greater awareness in both the public and medical community. Cardiomyopathies represent an ideal translational model of integration between basic and clinical sciences. A multidisciplinary approach is therefore essential in order to ensure their correct diagnosis and management. In the present work, we aim to provide a concise overview of the historical background, genetic and phenotypic spectrum and evolving concepts leading to the various attempts of cardiomyopathy classifications produced over the decades.

  18. Related factors of dilated cardiomyopathy

    Institute of Scientific and Technical Information of China (English)

    Guangyong Huang; Hang Gao; Xiangang Meng; Zhonghua Yan; Xiangquan Kong; Lexin Wang

    2009-01-01

    Objective To investigate the etiology and relative factors of dilated cardiomyopathy (DCM) in Chinese patients. Methods A case-control study was conducted to compare 233 patients with DCM in high-incidence areas (case group) and 150 patients with stable angina pectoris (control group). Life styles and history of diseases information was collected by questionaire; human anti-myocardial antibody IgG (AMA- IgG), human Coxsackie B virus IgG (CBV- IgG) and human adenovirus antibody IgG (ADV- lgG) were measured with ELISA. General chemical and toxicological indicators in drink water from high and low prevalence areas and serum trace elements also were compared. Results 1 ) Compared with the control group, the case group had more farmers (P < 0.01), with low average incomes (P < 0.01), higher alcohol consumption (P < 0.01) and higher incidence of the history of myocarditis (P < 0.01 ). 2) AMA-IgG, CBV-IgG and ADV-IgG levels were low and the positive rates ofAMA-IgG, CBV-IgG and ADV-IgG of patients with DCM were respectively 7.78%, 6.67% and 6.67%, no statistical significance comparing with those in the control group. 3) The content of iron (1.36±2.18 vs 0.39±0.67 mg/L, P<0.05) and manganese (0.384±0.35 vs 0.15±0.14, P<0.01 ) in drinking water of high-incidence areas was significantly higher than that in low-incidence areas. 4) The content of serum iron (69.14±57.8 vs 20.04±17.5 μ mol/L, P<0.01 ) and copper (25.74±4.2 vs 19.7±4.5 μmol/L, P<0.01) in the case group evidently exceeded the normal range and obviously higher than that in the control group. Conclusions 1) The incidence of some DCM is related with low incomes, high alcohol consumption and myocarditis. 2) These data do not support that DCM is related with persistent virus infection and autoimmunization; 3) Iron and manganese contents exceeding standards in drinking water and the high content of serum iron and copper is comparatively related with the incidence of DCM.

  19. Psoriasis and dilated cardiomyopathy: coincidence or associated diseases?

    Science.gov (United States)

    Eliakim-Raz, Noa; Shuvy, Mony; Lotan, Chaim; Planer, David

    2008-01-01

    Psoriasis is a common immune-mediated disease which affects 1-3% of the population. The etiology of psoriasis is unknown. Idiopathic dilated cardiomyopathy is probably the end result of a variety of toxic, metabolic or infectious agents. During a computerized search for cardiomyopathy among all patients hospitalized with psoriasis in the Hadassah University Hospital since 1980 we found an increased prevalence of cardiomyopathy, and specifically dilated cardiomyopathy. We present 4 patients who suffer from both conditions. In accordance with previous data, an association between preexisting psoriasis and dilated cardiomyopathy is suggested. We suggest that the genetic risk factors of dilated cardiomyopathy are shared by psoriasis, and more specifically psoriatic arthritis. Alternatively, the immune reaction that is triggered in dilated cardiomyopathy leading to the progression of the disease might be enhanced in patients with psoriasis or psoriatic arthritis. Chronic inflammation and persistent secretion of proinflammatory cytokines may be considered a potential pathway, triggering the initiation and progression of dilated cardiomyopathy in psoriatic patients. Further investigation of the genetic and immune risk factors involved in dilated cardiomyopathy and in psoriasis may lead to a better understanding of the pathogenesis and treatment of dilated cardiomyopathy.

  20. Cardiac transplant in a family pedigree of hypertrophic cardiomyopathy secondary to a mutation in the AMP gene.

    LENUS (Irish Health Repository)

    Schofield, Rebecca Sally

    2013-01-01

    The phenotype of this unique condition comprises left ventricular hypertrophy (LVH), accessory pathways, atrial arrhythmia and premature failure of the atrioventricular node. At age 11, his ECG showed marked voltage criteria for LVH but his echocardiography was negative. He declined further screening but was reassessed at 21 years of age. By this time he had developed significant LVH. He had an implantable cardioventer defibrillator (ICD) in 2001. He developed atrial flutter and fibrillation which was initially treated with medical therapy and then radiofrequency ablation.Unfortunately, his condition deteriorated. He was New York Heart Association (NYHA) class 3-4 for most of 2011 and spent the latter part of the year and most of 2012 as an in-patient. An attempt to upgrade his ICD to a cardiac resynchronisation therapy-defibrillator was unsuccessful.In March 2012 he was placed on the transplant waiting list. He received an organ in June. He is now NHYA class 1 and has returned to work part-time.