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Sample records for apical hypertrophic cardiomyopathy

  1. 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.

  2. Apical Hypertrophic Cardiomyopathy in Association with PulmonaryArtery Hypertension

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    Mehdi Peighambari

    2012-09-01

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

  3. Apical hypertrophic cardiomyopathy presenting as acute coronary syndrome.

    Science.gov (United States)

    Abdin, Amr; Eitel, Ingo; de Waha, Suzanne; Thiele, Holger

    2016-06-01

    Apical hypertrophic cardiomyopathy is a rare variant of hypertrophic cardiomyopathy. It is characterized by a local hypertrophy of the apical segments and displays typical electrocardiographic and imaging patterns. The clinical manifestations are variable and range from an asymptomatic course to sudden cardiac death. The most frequent symptom is chest pain and thus apical hypertrophic cardiomyopathy can mimic the symptoms and repolarization disturbances indicative of acute coronary syndrome. PMID:26628684

  4. Spontaneous coronary artery dissection associated with apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

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

  5. Detection of apical hypertrophic cardiomyopathy by cardiovascular MRI

    International Nuclear Information System (INIS)

    Objective: To investigate the clinical value of cardiovascular magnetic resonance imaging (cMRI) in identifying apical hypertrophic cardiomyopathy. Methods: Sixty-five patients with typical apical hypertrophic cardiomyopathy (T-AHCM), 51 patients with pre-apical hypertrophic cardiomyopathy (P-AHCM)and 26 normal controls were confirmed by cMRI. All cases underwent electrocardiogram and echocardiography, of which 16 and 34 cases were studied by radionuclide 99Tcm-MIBI SPECT myocardial scanning and coronary angiography plus left ventriculography, respectively. Results: cMRI confirmed all patients with apical hypertrophic cardiomyopathy, but echocardiography missed 96 cases. Two chamber and four chamber views of cine-cMRI were considered as the best position to show detailed structure of cardiac apex. Forty-seven cases showed spade-like configuration of left ventricular cavity in T-AHCM group, but only 15 patients in P-AHCM group presented the same character. T-AHCM group showed higher apical thickness and ratio of the apical wall thickness to that at basal level than P-AHCM group(18.6±2.7) mm vs (13.6±1.0) mm, 2.2±0.5 vs 1.6±0.3, P<0.05), and the ratios of both T-AHCM group and P-AHCM group were significantly higher than that of control group (9.5±1.7) mm, 1.1±0.1, P<0.05). Hypertrophic wall thickening was lesser in T-AHCM group than in P-AHCM group, while the values of both T-AHCM group and P-AHCM group were significantly lesser than that of control one. Conclusion: MRI is the best diagnostic modality for AHCM, which is highly accurate and better than echocardiography, especially for the diagnosis of mild hypertrophy in the early stage. (authors)

  6. Serious arrhythmias in patients with apical hypertrophic cardiomyopathy

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    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)

  7. 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)

  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. 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

  10. Heterogeneity of myocardial fluoro-18 2-deoxyglucose uptake in patients with apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    We have shown that myocardial glucose metabolism is heterogeneous in patients with hypertrophic cardiomyopathy. It is not known, however, whether glucose metabolism is impaired in patients with apical hypertrophic cardiomyopathy, which is fairly common in Japan. We studied 7 patients with apical hypertrophic cardiomyopathy and 5 normal subjects using fluoro-18 2-deoxyglucose (FDG) and positron emission tomography (PET). We calculated regional FDG fractional uptake and the inter-regional coefficient of variation (CV) of FDG fractional uptake in the interventricular septal, anteroapical, and posterolateral regions. The regional FDG fractional uptake was similar in the 2 groups and among the 3 different segments within each group. However, the inter-regional CV of FDG fractional uptake was increased in the anteroapical wall segment of the patient group compared with the control group and also with the other 2 regions in the patient group. The results did not differ when we studied another 5 patients and 6 normal control subjects with a PET scanner with higher spatial resolution. These data suggest that myocardial glucose metabolism may be impaired in the anteroapical wall segment of patients with apical hypertrophic cardiomyopathy. (author)

  11. Scintigraphic evaluation of regional myocardial sympathetic activity in patients with hypertrophic cardiomyopathy. Comparison between asymmetrical hypertrophic cardiomyopathy and apical hypertrophy

    International Nuclear Information System (INIS)

    Using 123I-MIBG (metaiodobenzylguanidine) and 201Tl imagings, an examination concerning the relation between the hypertrophic region and its sympathetic nervous function was done. Subjects were 12 normal adults (4 males and 8 females, mean age 61.3 yr), 13 patients with asymmetrical hypertrophic cardiomyopathy (10 males and 3 females, 63.9 yr) and 13 patients with apical hypertrophy (9 males and 4 females, 67.2 yr). The SPECT apparatus was Toshiba two-gated gamma camera GCA 7200A. At 20 min and 3 hr after intravenous injection of 111 MBq of 123I-MIBG, myocardial SPECT and planar images were obtained with collimator LEHR under following conditions: photoelectric peak 159 KeV, window width 20%, matrix size 64 x 64 (256 x 256 for the planar image), step angle 6deg, 40 sec/step and 180deg for 1 camera. In another day, 201Tl SPECT and planar imagings were performed 10 min after intravenous injection of 111 MBq of 201Tl for the photoelectric peak 72 KeV under similar conditions to above. SPECT images were reconstructed using Butterworth filter and Shepp and Logan filter. Images were examined for the defect score, myocardium/mediastinum ratio, whole heart washout rate and regional washout rate. In the asymmetrical hypertrophic myopathy, abnormal sympathetic nerve function was recognized on the regions regardless of their disease severity while in the apical hypertrophy, abnormality was restricted on the apical region. Therefore, the two diseases were found different from each other from the aspect of sympathetic nerve functions. (K.H.)

  12. 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

  13. 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.

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

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    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.

  17. 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.

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

    International Nuclear Information System (INIS)

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

  19. 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.

  20. Clinical application of 64-slice spiral CT for apical hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Objective: To evaluate the clinical application values of 64-row MSCT for apical hypertrophic cardiomyopathy (AHCM). Methods: Twenty-one patients with AHCM were included in this study, 14 patients were diagnosed by echocardiography (UCG), and 7 patients were diagnosed by MRI. All patients underwent MSCT exam, and 5 patients also had ventriculography and coronary angiography. The left ventricular wall thickness in end-systole and end-diastole phases were measured at MSCT workstation, the left ventricular apex thickening rate (LVAT) and the ratio of maximum wall thickness of the left ventricular apex (LVA) to the left ventrieular posterior wall thickness (LVA/LVPW) in end-diastole phase were calculated. The left ventricular end-diastolic volume (LVEDV) and left ventricular ejection fraction (LVEF) were quantitatively evaluated with cardiac functional analysis software. The results were compared with the measurement results from the normal control group (30 volunteers). The independent-samples t test was used for the statistics. At the same time, the coronary stenosis was measured. Results: Diffuse or partial thickening of the LV apical myocardium were found in the four-chamber view and two-chamber view of MSCT images, which leaded to the deformation of the left ventricle chamber. The LVEDV were (82.6± 11.4) and (108.5±10.6) ml in the AHCM group and the control group, respectively; the LVA were (20.6±3.4) and (9.9±1.5) mm; LVA/LVPW were 2.1±0.5 and 1.1±0.2; the LVAT were (25.6± 4.7)% and (81.5±8.5)%. There were significant differences in LYEDV, LVA, LVA/LVPW and LVAT between the two groups (t=8.32 and 15.29, P 0.05). Five patients had myocardium bridging and 4 patients had coronary stenosis. Conclusion: AHCM can be diagnosed accurately with MSCT, and the cardiac anatomy, function and coronary artery are also assessed simultaneously. (authors)

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

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    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

  2. 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

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

    International Nuclear Information System (INIS)

    The applicability of ECG gated cardiac computed tomography (CT) in 12 patients with hypertrophic cardiomyopathy was examined. Six of the 12 patients had hypertrophic obstructive cardiomyopathy, including one patient with mid-ventricular obstruction. Three of the 12 patients had hypertrophic non-obstructive cardiomyopathy, and three had apical hypertrophic cardiomyopathy. The diagnosis of hypertrophic cardiomyopathy was confirmed by the angiocardiogram in all patients. Cardiac CT was performed after intravenous administration of contrast media usually given as a bolus injection. The gantry was set with positive 200 tilt angle. In all patients with hypertrophic obstructive cardiomyopathy except for mid-ventricular obstruction, the hypertrophied interventricular septum in the basal and mid portions was observed, and the left ventricular cavity was narrowed in systole. In a patient with mid-ventricular obstruction, the marked hypertrophied interventricular septum and antero-lateral papillary muscle were observed. In diastole, the left ventricular cavity was narrow and divided into two parts. The apical cavity was completely disappeared in systole. In all patients with hypertrophic non-obstructive cardiomyopathy, the diffuse hypertrophied interventricular septum was observed in diastole. In systole, the apical portion of the left ventricular cavity was markedly narrow and antero-lateral papillary muscle was hypertrophic. In all patients with apical hypertrophic cardiomyopathy, the marked apical hypertrophy of the left ventricular wall was observed in diastole. It is concluded that ECG gated cardiac CT could estimate myocardial wall motion and thickness and differentiate the types of hypertrophic cardiomyopathy each other. (author)

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

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    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

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

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    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

  6. Cine MRI of hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Cine MRI was performed using 1.5T or 0.5T MR units in eleven patients with hypertrophic cardiomyopathy. Septal and posterior wall thickness measured by cine MRI correlated well with those obtained by ultrasonographic cardiogram. In hypertrophic obstructive cardiomyopathy, cine MRI demonstrated the site and nature of obstructive change in left ventricle. Cine MRI also showed flow void due to mitral regurgitation successfully. We considered cine MRI is useful means to evaluate the anatomical and functional findings in hypertrophic cardiomyopathy. (author)

  7. 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...

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

    International Nuclear Information System (INIS)

    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. (author)

  9. 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.

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

    International Nuclear Information System (INIS)

    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

  11. 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.

  12. Myocardial ischemia in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    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)

  13. Recent views on hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Recent Views on Hypertrophic Cardiomyopathy provides a review of results obtained in the area of hypertrophic cardiomyopathy, as well as a perspective for the future treatment of this cardiac disorder. The debate on the existence of a true obstruction to left ventricular outflow is expertly presented, as are current concepts of pathophysiology. Long-term treatment with the calcium antagonist, verapamil is thoroughly reviewed and surgical treatment and its implications, as applied to 160 patients suffering from hypertrophic cardiomyopathy, is thoroughly discussed. In addition, presentations on echocardiography and radionuclide cardiology as non-invasive procedures provide up-to-date views. Results obtained from pressure-volume loops and stress-strain relationships in patients with HCM, both before and after verapamil and propranolol treatments, are of special interest. To provide a better insight of this peculiar disease, two hemodynamic concepts - cavity angulation and atrioventricle - are introduced, emphasizing the interaction between morphology and function, and stressing the importance of the integrity of left atrial function. (Auth.)

  14. 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.

  15. Feline hypertrophic cardiomyopathy: variations on a theme

    International Nuclear Information System (INIS)

    The history and the physical, radiographic, electrocardiographic, echocardiographic, haemo-dynamic and angiocardiographic findings from 18 cats with idiopathic hypertrophic cardiomyopathy are described. These data document a diverse spectrum of clinical manifestations of this disease in cats. The variety and complexity of feline hypertrophic cardiomyopathy complicate the diagnosis and challenge the idea that this disorder is a single disease entity

  16. 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.)

  17. 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 ...

  18. 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.

  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...

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

    International Nuclear Information System (INIS)

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

  1. 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)....

  2. 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...

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

    Science.gov (United States)

    Efthimiadis, Georgios K; Giannakoulas, Georgios; Parcharidou, Despina G; Ziakas, Antonios G; Papadopoulos, Christodoulos E; Karoulas, Takis; Pliakos, Christodoulos; Parcharidis, Georgios

    2007-01-01

    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). PMID:17349063

  4. 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.

  5. 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.

  6. 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...

  7. 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

  8. 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)

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

    International Nuclear Information System (INIS)

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

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

    Medline Plus

    Full Text Available Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) You must have Javascript enabled in your web browser. View Program Transcript Click Here to view the OR-Live, Inc. Privacy Policy ...

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

    Science.gov (United States)

    Septal Myectomy Surgery to Treat Obstructive Hypertrophic Cardiomyopathy (HCM) You must have Javascript enabled in your web browser. View Program Transcript Click Here to view the OR-Live, Inc. Privacy Policy ...

  12. 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 ...

  13. 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.

  14. 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.

  15. 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.

  16. 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...

  17. 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...

  18. 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 ...

  19. Regional left ventricular diastolic function in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    To estimate regional left ventricular (LV) diastolic filling patterns in hypertrophic cardiomyopathy (HCM), a computer-assisted method by applying 'sector analysis' to ECG forward and reverse gated radionuclide ventriculography was developed. Fourteen patients with HCM (four with localized septal hypertrophy, seven with apical hypertrophy and three with septal and apical hypertrophy according to echocardiography) were observed at rest. After establishing serial 20 msec imaged frames, the LV region of interest was subdivided into eight sectors radiating from the geometric center. A time-activity curve was generated for each sector and was fitted by third-order harmonics of the Fourier series. From each fitted curve, the regional peak filling rate (rPFR) and the time to rPFR (rTPFR) in the forward gating method and regional atrial contribution to filling (rAC/FV) in the reverse gating method were calculated. The coefficient of variance of rTPFR was used as an index of LV diastolic asynchrony. In HCM, a prominent delay of rTPFR was observed in the hypertrophied regions. The coefficient of variance of rTPFR correlated inversely with global LVPFR (r=-0.62, p<0.05), indicating that diastolic asynchrony is one of the determinants of the LV early filling rate. Regional AC/FV was augmented in the hypertrophied regions, indicating the important role of atrial systolic LV filling for slowed early filling. Thus, this new method provides valuable information concerning regional diastolic LV wall mechanics in HCM. (author)

  20. 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.

  1. [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

  2. 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.

  3. 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

  4. 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.

  5. 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....

  6. Primary antiphospholipid syndrome, hypertrophic non-obstructive cardiomyopathy and hypotelorism.

    Science.gov (United States)

    Kellermair, Joerg; Kammler, Juergen; Laubichler, Peter; Steinwender, Clemens

    2016-01-01

    Antiphospholipid syndrome (APS) is an autoimmune disorder associated with arterial/venous thrombosis. Cardiac manifestations of APS include valve stenosis/insufficiency, coronary artery disease and myocardial dysfunction presenting as dilated cardiomyopathy. In the following report, we present the case of a man with primary APS, hypertrophic non-obstructive cardiomyopathy and hypotelorism-a combination that has not yet been reported in the literature. PMID:27048398

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

    International Nuclear Information System (INIS)

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

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

    International Nuclear Information System (INIS)

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

  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. 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

  11. Decreased coronary reserve in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

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

  12. 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.

  13. 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)

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

    Directory of Open Access Journals (Sweden)

    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.

  15. 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...

  16. [Interventional options in modern treatment of hypertrophic obstructive cardiomyopathy].

    Science.gov (United States)

    Dulguerov, F; Radermecker, M A; Legrand, V

    2011-01-01

    Obstructive hypertrophic cardiomyopathy is a complex pathology. The understanding of its physiopathology and, notably, of the SAM phenomenon (Systolic Anterior Motion), is crucial for all available treatments. Amongst the most efficient therapies, one can cite the septal myectomy and its most recent technical updates, as well as the alcohol septal ablation. The choice between these two methods depends on the general state of the patient, the thickness of the interventricular septum and the coronary anatomy of the patients. PMID:21374955

  17. 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...

  18. 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...

  19. Private Mitochondrial DNA Variants in Danish Patients with Hypertrophic Cardiomyopathy

    OpenAIRE

    Hagen, Christian M; Aidt, Frederik H; Havndrup, Ole; Hedley, Paula L.; Jensen, Morten K.; Kanters, Jørgen K.; Pham, Tam T.; Bundgaard, Henning; Christiansen, Michael

    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. 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, mi...

  20. 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

  1. 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.

  2. 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.

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

    DEFF Research Database (Denmark)

    Jensen, Morten Kvistholm; Havndrup, Ole; Hassager, Christian; Helqvist, Steffen; Kelbæk, Henning; Jørgensen, Erik; Køber, Lars; Bundgaard, Henning

    2011-01-01

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

  4. 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.

  5. Multiple Myocardial Bridges in a Patient with Hypertrophic Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Tolga Demir

    2016-02-01

    Full Text Available Myocardial bridging is a rare congenital anomaly. It is almost always confined to the left anterior descending coronary artery. There are few reported cases with simultaneous occurrence of multiple bridges of different coronary arteries in the same patient. In this article we report a 60-year-old male with hypertrophic cardiomyopathy having multiple myocardial bridges left anterior descending and right coronary arteries. No ischemia was detected on myocardial perfusion single photon emission computed tomography and the patient was medically followed up.

  6. 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...

  7. 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.

  8. 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

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

    International Nuclear Information System (INIS)

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

  11. 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)

  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. 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)

  14. 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....... 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...... 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....

  15. 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

  16. 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.

  17. 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.

  18. 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

  19. 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...

  20. 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.

  1. Health related quality of life and psychological wellbeing in patients with hypertrophic cardiomyopathy.

    OpenAIRE

    Cox, S.; O'Donoghue, A. C.; McKenna, W. J.; STEPTOE, A

    1997-01-01

    OBJECTIVE: To assess the health related quality of life and psychological wellbeing of patients with hypertrophic cardiomyopathy, to correlate these with symptoms, clinical, and psychosocial factors. DESIGN: Questionnaire distributed to 171 hypertrophic cardiomyopathy patients aged at least 14 years, selected at random from a dataset of 480 patients. Assessments included the Short Form 36 (SF-36) Health Survey, the Hospital Anxiety and Depression questionnaire, and measures of adjustment, wor...

  2. Difficult Anesthesia Management in a Case of Living Donor Liver Transplantation with Hypertrophic Obstructive Cardiomyopathy

    OpenAIRE

    Kondo, Takashi; Kusunoki, Shinji; Kuroda, Masahiko; KAWAMOTO, MASASHI

    2013-01-01

    Liver transplantation with hypertrophic obstructive cardiomyopathy is associated with acute hemodynamic changes, which can exacerbate left ventricular outflow tract obstruction during surgery. Therefore, selection of general anesthetic agents is important, as most can result in hemodynamic instability by reducing systemic vascular resistance and blood pressure. We report successful anesthetic management in a case of living donor liver transplantation with hypertrophic obstructive cardiomyopat...

  3. Clinical studies of regional myocardial thallium-201 washout rate in hypertrophic cardiomyopathy

    Energy Technology Data Exchange (ETDEWEB)

    Igarashi, Yutaka; Genda, Akira; Mizuno, Sumio; Shimizu, Masami; Nituta, Yutaka; Takeda, Ryoyu; Bunko, Hisashi; Hisada, Kin-ichi

    1987-02-01

    A trial was undertaken to elucidate the cause of disproportional hypertrophy (DPH) in hypertrophic cardiomyopathy (HCM). Twenty-eight HCM patients in whom coronary arteriography was normal and 10 normal volunteers underwent thallium-201 myocardial imaging during exercise. Based on ventriculographic findings, the sites of DPH were classified as interventricular septum (IVS), IVS-apical anterior wall, apical anterior wall, and whole wall. Washout rate (WR) and early uptake rate (UT) were obtained by analyzing circumferential profiles from Tl-201 images. The mean UT was significantly low from the apex to the bottom of the anterior ventricular septum, and significantly high in the basal portion of the anterior ventricular septum, as compared with the control group. The mean WR was significantly decreased in all the segments in any type of HCM group. Decreased WR was also observed in the site showing increased UT. Seventeen patients (61%) showed abnormally decreased UT and/or WR for 25 segments. Twenty-one (84%) segments had a decrease in WR only, 16 of which had been specifically thickened. In 20 patients with normal UT, WR was significantly decreased in the thinnest postero-lateral wall. The results indicate that HCM is characterized by decreased WR in the DPH sites. It is supposed that damaged coronary microcirculation may be a contributing factor to the decrease in WR and UT, and disturbed metabolism in myocardial cells may be involved in the sole decrease of WR as well. Both disturbances are considered closely related to the cause of DPH. (Namekawa, K.).

  4. 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

  5. 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.

  6. 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.

  7. High Sensitivity of Late Gadolinium Enhancement for Predicting Microscopic Myocardial Scarring in Biopsied Specimens in Hypertrophic Cardiomyopathy

    OpenAIRE

    Konno, Tetsuo; Hayashi, Kenshi; Fujino, Noboru; Nagata, Yoji; Hodatsu, Akihiko; Masuta, Eiichi; Sakata, Kenji; Nakamura, Hiroyuki; Kawashiri, Masa-aki; Yamagishi, Masakazu

    2014-01-01

    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...

  8. Left ventricular diastolic properties in dilated cardiomyopathy, transmural myocardial infarction, and hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Left ventricular (LV) diastolic properties in dilated cardiomyopathy (DCM), transmural myocardial infarction (TMI), and hypertrophic cardiomyopathy (HCM) were evaluated. Radionuclide angiography and M-mode echocardiography were performed for 11 cases of DCM, 40 cases of TMI, 21 cases of HCM, and nine normal control subjects. In DCM, the peak filling rate (PFR) and filling fraction (FF) were significantly reduced, but the time to the peak filling rate (TPFR) was not prolonged. In TMI, both the PFR and FF were significantly reduced. Moreover, the TPFR was significantly prolonged in TMI as compared to DCM. Although depression of the PFR in HCM was not apparent, prolongation of the TPFR in HCM was marked. In DCM, there was good correlation between the PFR and left ventricular ejection fraction (EF) (r = 0.71, p < 0.03). In TMI, there was a good correlation between the TPFR and the standard deviation of the LV phase angle histogram (SDP), indicating LV asynergy (r = 0.589, p < 0.005). In HCM, both the FF and PFR correlated inversely with the LV wall thickness (r = -0.74, p < 0.008; r = -0.581, p < 0.03, respectively). These results indicate that various factors affect LV diastolic properties in heart disease, and that radionuclide angiography is a valuable technique for evaluating LV diastolic function. (author)

  9. Relationship between electrocardiographic features and distribution of hypertrophy in patients with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    To evaluate the relationship between the distribution of hypertrophy and the electrocardiographic findings in patients with hypertrophic cardiomyopathy (HCM), 54 HCM patients were studied using magnetic resonance imaging. The patients were divided into 4 groups according to hypertrophic patterns: hypertrophy only at the apex (group I, n=12); hypertrophy in both the apex and base (group II, n=20); hypertrophy only at the base with asymmetric septal hypertrophy (ASH) (group IIIa, n=17); and hypertrophy only at the base without ASH (group IIIb, n=5). Abnormal Q waves in leads II, III and aVF were found in 1/12, 3/20, 10/17 and 0/5, respectively, and in leads I and aVL they were found in 1/12, 8/20, 4/17 and 1/5, respectively. The largest negative T waves (mm) were found in group I (group I vs group II vs group IIIa vs group IIIb: 15.2±5.3, 8.2±6.1, 1.6±2.0, 0.8±1.3, respectively). The largest positive T waves (mm) were identified in group IIIb (3.8±3.0, 6.8±3.2, 5.8±3.6, 9.3±2.1, respectively). The presence of abnormal Q waves reflected regional hypertrophy in HCM patients but the configuration of T waves represented the difference in the localization of hypertrophy between the basal and apical segments. (author)

  10. Evolving anatomic, functional, and molecular imaging in the early detection and prognosis of hypertrophic cardiomyopathy.

    Science.gov (United States)

    Fuster, Valentin; van der Zee, Sarina; Miller, Marc A

    2009-12-01

    Evolving imaging modalities in hypertrophic cardiomyopathy (HCM), such as tissue Doppler, speckle tracking, measures of myocardial blood flow, and cardiac magnetic resonance with gadolinium enhancement, have advanced our understanding of the pathogenesis of myocardial dysfunction in hypertrophic cardiomyopathy. These modalities have the potential to differentiate HCM from other causes of left ventricular hypertrophy when there is uncertainty about the diagnosis and to identify affected individuals in the pre-clinical phase of the disease process. Furthermore, preliminary data suggests that functional imaging techniques may add incremental value to conventional risk stratification tools to identify individuals at high risk for sudden death or progression to congestive heart failure. PMID:20559998

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

    International Nuclear Information System (INIS)

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

  12. 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

  13. 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

  14. 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.

  15. 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.

  16. 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.

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

    International Nuclear Information System (INIS)

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

  18. Mitochondrial Haplogroups Modify the Risk of Developing Hypertrophic Cardiomyopathy in a Danish Population

    OpenAIRE

    Hagen, Christian M; Aidt, Frederik H; Hedley, Paula L.; Jensen, Morten K.; Havndrup, Ole; Kanters, Jørgen K.; Moolman-Smook, Johanna C.; Larsen, Severin O.; Bundgaard, Henning; Christiansen, Michael

    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...

  19. 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.

  20. Comparison of Clinical Features in Blacks Versus Whites With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Sorensen, Lars L; Pinheiro, Aurelio; Dimaano, Veronica Lea; Pozios, Iraklis; Nowbar, Alexandra; Liu, Hongyun; Luo, Hong-Chang; Lin, Xiaoping; Olsen, Niels T; Hansen, Thomas F; Sogaard, Peter; Abraham, Maria R; Abraham, Theodore P

    2016-01-01

    To date, there has not been a large systematic examination of the hypertrophic cardiomyopathy (HC) phenotype in blacks versus whites. In this study, we investigate differences in presentation of HC between blacks and whites. We included 441 consecutive patients with HC seen at the Johns Hopkins HC...

  1. 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.

  2. 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

  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. 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 ...

  5. 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...

  6. 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...

  7. 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...

  8. 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...

  9. Functional effects of losartan in hypertrophic cardiomyopathy-a randomised clinical trial

    DEFF Research Database (Denmark)

    Axelsson, Anna; Iversen, Kasper; Vejlstrup, Niels;

    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...

  10. 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

  11. 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

  12. 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

  13. 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.

  14. 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

  15. 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.

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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.

  1. 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.

  2. 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

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

    International Nuclear Information System (INIS)

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

  4. The Mitral Valve in Obstructive Hypertrophic Cardiomyopathy: A Test in Context.

    Science.gov (United States)

    Sherrid, Mark V; Balaram, Sandhya; Kim, Bette; Axel, Leon; Swistel, Daniel G

    2016-04-19

    Mitral valve abnormalities were not part of modern pathological and clinical descriptions of hypertrophic cardiomyopathy in the 1950s, which focused on left ventricular (LV) hypertrophy and myocyte fiber disarray. Although systolic anterior motion (SAM) of the mitral valve was discovered as the cause of LV outflow tract obstruction in the M-mode echocardiography era, in the 1990s structural abnormalities of the mitral valve became appreciated as contributing to SAM pathophysiology. Hypertrophic cardiomyopathy mitral malformations have been identified at all levels. They occur in the leaflets, usually elongating them, and also in the submitral apparatus, with a wide array of malformations of the papillary muscles and chordae, that can be detected by transthoracic and transesophageal echocardiography and by cardiac magnetic resonance. Because they participate fundamentally in the predisposition to SAM, they have increasingly been repaired surgically. This review critically assesses imaging and measurement of mitral abnormalities and discusses their surgical relief. PMID:27081025

  5. 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

  6. Myocardial stunning in hypertrophic cardiomyopathy: recovery predicted by single photon emission computed tomographic thallium-201 scintigraphy

    International Nuclear Information System (INIS)

    A young woman with hypertrophic cardiomyopathy confirmed by echocardiography and cardiac catheterization presented with chest pain and features of a large left ventricular aneurysm. The initial diagnosis was myocardial ischemia with either an evolving or an ancient myocardial infarction. Subsequently, verapamil therapy was associated with complete resolution of the extensive left ventricular wall motion abnormalities, normalization of left ventricular ejection fraction and a minimal myocardial infarction. Normal thallium uptake on single photon emission computed tomographic scintigraphy early in the hospital course predicted myocardial viability in the region of the aneurysm. Thus, orally administered verapamil may reverse spontaneous extensive myocardial ischemia in hypertrophic cardiomyopathy and possibly limit the extent of myocardial infarction in such circumstances

  7. 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

    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...... 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...

  8. Regional myocardial coronary blood flow reserve in hypertrophic cardiomyopathy assessed by digital subtraction coronary angiography

    International Nuclear Information System (INIS)

    Using digital subtraction coronary angiography (DSA), we evaluated the regional myocardial coronary blood flow reserve (rMFR) in 18 patients with hypertrophic cardiomyopathy (HCM). There were 13 patients with asymmetrical septal hypertrophy (ASH), and 5 with asymmetrical apical hypertrophy (AAH). Eight subjects without apparent cardiac abnormality served as controls. Relations between the rMFR and regional wall thickness, as determined by echocardiography, were also investigated. Peak contrast density (Cm) and time to Cm (Tm) were measured from digital angiograms at the middle and distal ventricular septum (VS) and at the apical and left ventricular posterior wall (PW). The rMFR of each region of interest was expressed as the ratio of Cm/Tm at the baseline and at peak hyperemic response induced by intracoronary administration of papaverine. The rMFR was significantly lower at the VS and apex in HCM than in controls: middle VS, 1.9±0.5 vs 3.9±0.5, p<0.001; distal VS, 2.0±0.5 vs 4.4±0.9, p<0.001; and the apex, 2.0±0.7 vs 4.5±1.6, p<0.01. However, it did not differ at the PW; 2.6±0.9 vs 3.0±0.9 between the 3 groups. The middle VS and apex, where the wall was the thickest, had the lowest rMFR in ASH and AAH. Furthermore, at the VS and apex, a curvilinear relationship was observed between the rMFR and wall thickness (rMFR=-0.88 ln WT+2.39, r=-0.57, p<0.001). These results indicated that disproportionate hypertrophy contributes to impairment of the rMFR, and that the decreased rMFR may be one of the significant causes of reversible myocardial ischemia in patients with HCM. (author)

  9. Myocardial fragmentation associated with disruption of the Z-band in hypertrophic cardiomyopathy in Noonan syndrome.

    Science.gov (United States)

    Kawano, Hiroaki; Kawamura, Koichi; Ishijima, Mitsuaki; Hayashi, Tomayoshi; Abe, Kuniko; Kawai, Kioko; Maemura, Koji

    2016-01-01

    A 13-year-old female with Noonan syndrome had been diagnosed with hypertrophic cardiomyopathy, and she died of heart failure at the age of 25 years. Light microscopic and electron microscopic examination of her biopsied myocardium and autopsy heart showed myocardial fragmentation associated with Z-band disruption as well as myocardial hypertrophy and disarray with interstitial fibrosis. Myocardial fragmentation associated with Z-band disruption may be related to the progression of cardiac dysfunction. PMID:27216919

  10. Hypertrophic cardiomyopathy in Northern Sweden : with special emphasis on molecular genetics

    OpenAIRE

    Mörner, Stellan

    2004-01-01

    Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. To date, no study has systematically analysed the genetic and phenotypic aspects of the disease in a Swedish population. The aim of this thesis was to identify the genotypes causing HCM in northern Sweden, to characterize the disease phenotypes and correlate these findings. Forty-six patients were recruited for the genetic stu...

  11. 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...

  12. 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...

  13. Dynamics of left ventricular ejection in obstructive and nonobstructive hypertrophic cardiomyopathy.

    OpenAIRE

    Murgo, J P; Alter, B R; Dorethy, J F; Altobelli, S A; McGranahan, G M

    1980-01-01

    The purpose of this study was to examine the dynamics of left ventricular ejection in patients with obstructive and nonobstructive hypertrophic cardiomyopathy (HCM). 30 patients with HCM and 29 patients with no evidence of cardiovascular disease were studied during cardiac catheterization. Using a single multisensor catheter, electromagnetically derived ascending aortic flow velocity and high fidelity left ventricular and aortic pressures were recorded during rest (n = 47) and provocative man...

  14. Variability of Parameters from Overnight Pulse Oximetry in Patients with Hypertrophic Cardiomyopathy

    Czech Academy of Sciences Publication Activity Database

    Leinveber, Pavel; Orban, M.; Brandy, P. A.; Caples, S. M.; Konečný, T.; Jurák, Pavel; Offut, S. J.; Kára, T.; Ommen, S. R.; Sommers, V. K.

    Milano: Fondazione Don Carlo Gnocchi, 2008, P1A: 5-7. [Conference of the European Study Group on Cardiovascular Oscillations /5./ - ESGCO 2008. Parma (IT), 07.04.2008-09.04.2008] R&D Projects: GA AV ČR IAA200650801 Institutional research plan: CEZ:AV0Z20650511 Keywords : hypertrophic cardiomyopathy * HCM * pulse oximetry * sleep -related breathing disorders Subject RIV: JA - Electronics ; Optoelectronics, Electrical Engineering

  15. 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...

  16. 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

  17. 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...

  18. 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...

  19. Significance of decreased washout rate in hypertrophic cardiomyopathy by exercise Tl-201 myocardial scintigraphy

    International Nuclear Information System (INIS)

    A clinical significance of decreased washout rate (WR) in hypertrophic cardiomyopathy by exercise thallium-201 myocardial scintigraphy was evaluated. Thirty-six patients with hypertrophic cardiomyopathy and normal coronary angiogram were categorized into 3 groups according to initial distribution (ID) and WR: decreased ID group (17 patients, ID group), normal ID but decreased WR group (9 patients, WR group) and normal ID and normal WR group (10 patients, N group). Results: (1) Cardio-thoracic-ratio and left ventricular end-diastolic pressure were higher in WR group than in other 2 groups. (2) Resting ejection fraction and left ventricular end-diastolic volume index did not differ in three groups. (3) Exercise ejection fraction was increased in N group, whereas it was not increased in ID or WR groups. It was increased in 47% of ID group, but were decreased or not changed in all patients of WR group. In conclusion, decreased WR in patients with hypertrophic cardiomyopathy may strongly suggest left ventricular myocardial damage. (author)

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

    Czech Academy of Sciences Publication Activity Database

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

    2011-01-01

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

  1. Apical ballooning with mid-ventricular obstruction: the many faces of Takotsubo cardiomyopathy

    OpenAIRE

    Spadotto, Veronica; ElMaghawry, Mohamed; Zorzi, Alessandro; Migliore, Federico; Marra, Martina Perazzolo

    2013-01-01

    Takotsubo cardiomyopathy (TTC) is a transient left ventricular dysfunction due to akinesia of the left-ventricular (LV) mid-apical segments (apical ballooning), which can cause severe reduction in LV systolic function. The typical clinical picture of TTC include chest pain, electrocardiographic changes consisting of mild ST-segment elevation followed by diffuse deep T-wave inversion, QTc interval prolongation and mild troponin release in the absence of significant coronary stenoses. The syndr...

  2. 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....

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

    International Nuclear Information System (INIS)

    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.)

  4. 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.)

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

    International Nuclear Information System (INIS)

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

  8. 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

  9. Myocardial metabolic, hemodynamic, and electrocardiographic significance of reversible thallium-201 abnormalities in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Exercise-induced abnormalities during thallium-201 scintigraphy that normalize at rest frequently occur in patients with hypertrophic cardiomyopathy. However, it is not known whether these abnormalities are indicative of myocardial ischemia. Fifty patients with hypertrophic cardiomyopathy underwent exercise 201Tl scintigraphy and, during the same week, measurement of myocardial lactate metabolism and hemodynamics during pacing stress. Thirty-seven patients (74%) had one or more 201Tl abnormalities that completely normalized after 3 hours of rest; 26 had regional myocardial 201Tl defects, and 26 had apparent left ventricular cavity dilatation with exercise, with 15 having coexistence of these abnormal findings. Of the 37 patients with reversible 201Tl abnormalities, 27 (73%) had metabolic evidence of myocardial ischemia during rapid atrial pacing compared with four of 13 patients (31%) with normal 201Tl scans (p less than 0.01). Eleven patients had apparent cavity dilatation as their only 201Tl abnormality; their mean postpacing left ventricular end-diastolic pressure was significantly higher than that of the 13 patients with normal 201Tl studies (33 +/- 5 versus 21 +/- 10 mm Hg, p less than 0.001). There was no correlation between the angiographic presence of systolic septal or epicardial coronary arterial compression and the presence or distribution of 201Tl abnormalities. Patients with ischemic ST segment responses to exercise had an 80% prevalence rate of reversible 201Tl abnormalities and a 70% prevalence rate of pacing-induced ischemia. However, 69% of patients with nonischemic ST segment responses had reversible 201Tl abnormalities, and 55% had pacing-induced ischemia. Reversible 201Tl abnormalities during exercise stress are markers of myocardial ischemia in hypertrophic cardiomyopathy and most likely identify relatively underperfused myocardium

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

    International Nuclear Information System (INIS)

    Objective: To evaluate the value of gated 99Tcm-methoxyisobutylisonitrile (MIBI) myocardial perfusion imaging in detection of myocardial ischemia in hypertrophic cardiomyopathy. Methods: Sixty-nine patients with clinically proven hypertrophic cardiomyopathy were divided into 2 groups using coronary angiogram as 'gold standard': positive group (n=19, narrowing ≥ 50%) and negative group (n=50, narrowing99Tcm-MIBI myocardial perfusion imaging was performed and positive in all 69 patients (41 males, 28 females, aged 35-75 years). Comparative analysis between the two groups was carried out using t-test. Results: In the positive group, reversible and irreversible perfusion defects were detected in 9 and 10 patients, respectively. Left ventricular ejection fraction (LVEF) increased to (69.1 ± 2.8)% in 8 patients and decreased to (42.8 ± 2.1)% in 11 patients. In the negative group, reversible and irreversible perfusion defects were found in 37 and 13 patients, respectively. LVEF increased to (70.8 ± 4.0)% in 38 patients and decreased to (48.9 ± 2.7)% in 12 patients. The values of ischemic area, severity and extent of perfusion defect, and LVEF were significantly different between the two groups (t=9.28, 16.51, 2.65; P99Tcm-MIBI myocardial perfusion imaging is valuable in assessing patients with hypertrophic cardiomyopathy. Detection for the presence or absence of coexisting coronary artery disease and myocardial ischemia has an important prognostic indication and management indication for these patients. (authors)

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

    International Nuclear Information System (INIS)

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

  12. Serum biomarker release patterns following alcohol septal ablation for treatment of hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Foley JD

    2014-12-01

    Full Text Available Joseph D Foley,1 Craig S Miller,2 J Darrell Sneed,1 Jeffrey L Ebersole,2 Richard J Kryscio,3 John T McDevitt,4 Charles L Campbell5 1Gill Heart Institute and Division of Cardiovascular Medicine, Department of Internal Medicine, 2Department of Oral Health Practice, College of Dentistry, 3Department of Statistics, University of Kentucky, Lexington, KY, 4Departments of Bioengineering and Chemistry, Rice University, Houston, TX, USA; 5Division of Cardiololgy, University of Tennessee at Chattanooga, Erlanger Health Systems, TN, USA Abstract: Alcohol septal ablation (ASA is employed to relieve the pressure gradient associated with symptomatic hypertrophic cardiomyopathy. Serum concentrations of cardiac troponin I, creatine kinase MB band, brain natriuretic protein, matrix metalloproteinase-9, myoglobin, C-reactive protein, tumor necrosis factor-alpha, soluble CD40 ligand, interleukin-6, adiponectin, interleukin-1ß, myeloperoxidase, and soluble intercellular adhesion molecule-1 were determined at baseline and at 8, 16, 24, and 48 hours in patients with hypertrophic cardiomyopathy presenting for ASA. Comparisons were made with 107 healthy control subjects. Sixteen hours following ASA, serum levels rose over 800-fold for cardiac troponin I, 70-fold for creatine kinase MB band, and 11-fold for myoglobin (P<0.001. C-reactive protein and interleukin-6 both rose slowly and became significantly elevated at 16 and 48 hours, respectively. Matrix metalloprotease-9 rapidly increased two-fold at 8 hours, but returned to baseline thereafter. Other biomarkers evaluated either trended downward or showed little change from baseline. Among the ASA patients, baseline serum concentration of all biomarkers, except for matrix metalloproteinase-9, soluble intercellular adhesion molecule-1, and myeloperoxidase, were elevated in the ASA group compared with the controls. These findings suggest that hypertrophic cardiomyopathy is a proinflammatory and prothrombotic state. The

  13. 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.

  14. 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.

  15. 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.

  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. [Regional left ventricular diastolic function in hypertrophic cardiomyopathy: application of "sector analysis" to ECG forward and reverse gated radionuclide ventriculography].

    Science.gov (United States)

    Ishida, Y; Matsubara, N; Tani, A; Ozaki, H; Matsuyama, T; Sato, H; Hori, M; Kitabatake, A; Kamada, T; Kozuka, T

    1989-06-01

    To estimate regional left ventricular (LV) diastolic filling patterns in hypertrophic cardiomyopathy (HCM), a computer-assisted method by applying "sector analysis" to ECG forward and reverse gated radionuclide ventriculography was developed. Fourteen patients with HCM (four with localized septal hypertrophy, seven with apical hypertrophy and three with septal and apical hypertrophy according to echocardiography) were observed at rest. After establishing serial 20 msec imaged frames, the LV region of interest was subdivided into eight sectors radiating from the geometric center. A time-activity curve was generated for each sector and was fitted by third-order harmonics of the Fourier series. From each fitted curve, the regional peak filling rate (rPFR) and the time of rPFR (rTPFR) in the forward gating method and regional atrial contribution to filling (rAC/FV) in the reverse gating method were calculated. The coefficient of variance of rTPFR was used as an index of LV diastolic asynchrony. In HCM, a prominent delay of rTPFR was observed in the hypertrophied regions. The coefficient of variance of rTPFR correlated inversely with global LVPFR (r = -0.62, p less than 0.05), indicating that diastolic asynchrony is one of the determinants of the LV early filling rate. Regional AC/FV was augmented in the hypertrophied regions, indicating the important role of atrial systolic LV filling for slowed early filling. Thus, this new method provides valuable information concerning regional diastolic LV wall mechanics in HCM. PMID:2636628

  18. Apical Ballooning Syndrome (Takotsubo Cardiomyopathy after Permanent Dual-Chamber Pacemaker Implantation

    Directory of Open Access Journals (Sweden)

    Armando Gardini

    2012-01-01

    Full Text Available Apical ballooning syndrome, also called takotsubo cardiomyopathy, has been recently reported. It may mimic acute myocardial infarction and is typically observed in postmenopausal women after stressful events. A 75-year-old female after permanent dual chamber pacemaker implant complained of chest pain with repolarization alterations suggesting acute myocardial ischemia. Echocardiography showed a left ventricle with akinesia of the apical portions and reduced global systolic function. The patient was treated with antithrombotic agents and intravenous nitrates. No coronary lesions were found at angiography. At ventriculography, a typical takotsubo-like shape of the left ventricle was observed. The clinical and echocardiographic picture normalized at discharge.

  19. 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.

  20. Effects of verapamil on left ventricular diastolic filling in children with hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    The effects of oral verapamil on resting left ventricular (LV) diastolic filling were examined in 10 children and adolescents with hypertrophic cardiomyopathy. Measurements of diastolic filling were made from gated technetium-99m radionuclide angiograms with postbeat rejection of data outside a 5% RR-interval window. LV time-activity curves were generated and the rapid-filling phase fit with a 3 degrees polynomial to calculate the peak filling rate and the time from end-systole to the point of peak filling. All patients had a radionuclide angiogram performed before and after 0.25 to 3 years of oral verapamil therapy. Verapamil did not change the LV ejection fraction but increased the peak filling rate (3.24 +/- 0.15 to 4.62 +/- 1.05 end-diastolic volume/s,p less than 0.01) and reduced the time to peak filling (217 +/- 57 to 168 +/- 63 ms, p less than 0.01). An increase in exercise endurance as measured by exercise treadmill test and subjective symptomatic improvement were also seen after verapamil therapy. Thus, in children with hypertrophic cardiomyopathy, symptomatic improvement and LV diastolic filling parameters improved with long-term oral verapamil

  1. 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

  2. Apical ballooning with mid-ventricular obstruction: the many faces of Takotsubo cardiomyopathy.

    Science.gov (United States)

    Spadotto, Veronica; Elmaghawry, Mohamed; Zorzi, Alessandro; Migliore, Federico; Marra, Martina Perazzolo

    2013-01-01

    Takotsubo cardiomyopathy (TTC) is a transient left ventricular dysfunction due to akinesia of the left-ventricular (LV) mid-apical segments (apical ballooning), which can cause severe reduction in LV systolic function. The typical clinical picture of TTC include chest pain, electrocardiographic changes consisting of mild ST-segment elevation followed by diffuse deep T-wave inversion, QTc interval prolongation and mild troponin release in the absence of significant coronary stenoses. The syndrome often affects post-menopausal women and is triggered by sympathetic overstimulation, like intense physical or emotional stress, so that it is called the "broken heart syndrome". Although left-ventricular systolic dysfunction usually fully recovers within few days, heart failure can still complicate the early phase. We report a case of stress-induced cardiomyopathy that had full recovery after 4 weeks of follow up. The main electrocardiographic, angiographic and imaging features are discussed. PMID:24689016

  3. 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

  4. 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.

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

    NARCIS (Netherlands)

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

    2009-01-01

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

  6. 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

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

    LENUS (Irish Health Repository)

    Shah, J S

    2008-10-01

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

  8. Postoperative left ventricular apical ballooning: Transient Takotsubo cardiomyopathy following orthotopic liver transplantation

    Science.gov (United States)

    Bedanova, Helena; Orban, Marek; Nemec, Petr

    2013-01-01

    Patient: Female, 51 Final Diagnosis: Takotsubo cardiomyopathy Symptoms: — Medication: — Clinical Procedure: — Specialty: Cardiology • Transplantology Objective: Rare disease Background: Left ventricular apical ballooning syndrome (LVAB), also known as Takotsubo cardiomyopathy, is a cardiac syndrome characterized by transient left ventricular dysfunction in the absence of obstructive atherosclerotic coronary artery disease. An episode of emotional stress, typically in female patients, is believed to precede and trigger the development of this syndrome. Case Report: We report a case of Takotsubo cardiomyopathy that developed after orthotopic liver transplantation in a 51-year-old woman. On D2 (day 2) the patient had severe hemodynamic compromise. Echocardiography showed systolic dysfunction of the left ventricle (LV), with ejection fraction (EF) of 20% and anteroapical akinesis and ballooning of the apical 2/3 of the LV. Troponin T was elevated but other markers of myocardial necrosis were negative, as was coronary angiography. From D7 onward, there was an improvement in the hemodynamics in conjunction with a gradual increase of LV EF. The patient was dismissed from the hospital on D30 with signs of normal cardiac function and LV motion and EF of 50%. Liver function was also excellent. Conclusions: Every major operation, including liver transplantation, is associated with emotional stress for the patient. Therefore, it is necessary to consider Takotsubo cardiomyopathy in the differential diagnosis of heart failure developing early after LT, and clinicians should subsequently use adequate diagnostic and therapeutic measures. PMID:24298303

  9. 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

  10. Mode of left ventricular diastolic filling in hypertrophic cardiomyopathy as studied by pulsed Doppler echocardiography and multigated blood pool scan

    International Nuclear Information System (INIS)

    The clinical significance of the mode of left ventricular (LV) diastolic filling in hypertrophic cardiomyopathy was studied by the LV inflow velocity patterns (LVIF) of pulsed Doppler echocardiography and LV early diastolic filling rates (V2) of radionuclide (RI) angiography. The relationship between the deceleration time (DT) obtained from LVIF and the V2 was evaluated in 34 patients with nonobstructive hypertrophic cardiomyopathy (HCM) and in nine with obstructive hypertrophic cardiomyopathy (HOCM), and the results were compared with those of 10 patients with dilated cardiomyopathy (DCM), of two with restrictive cardiomyopathy (RCM), and of 19 normal subjects. HCM was subdivided into the following groups according to V1-DT relationships: Group 1 with prolonged DT and decreased V1, Group 2 with normal or short DT and normal V1, and Group 3 with normal or short DT and decreased V1. There were significant negative correlations between V2 and DT in Groups 1 and 2 of HCM, normal and HOCM. However, there were significant positive correlations in Group 3 of HCM, DCM and RCM. Nearly all patients in Group 3 had decreased LV ejection fraction and % fractional shortening, distinct B-B' step formation of the mitral valve echogram, and huge A wave of the apexcardiogram. These findings suggested that the LV rapid filling interval gradually became shorter because the LV contraction is decreased as myocardial fibrosis develops in HCM, and that we must pay attention to the diagnosis of such abnormalities, similar to those of DCM or RCM. (author)

  11. 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

  12. Evaluation of diastolic function of hypertrophic cardiomyopathy using left ventricular volume-time curve

    International Nuclear Information System (INIS)

    Objective: To determine the feasibility of using left ventricular volume-time curve in the evaluation of left ventricular diastolic function, and to analyze characteristics of left ventricular volume-time curve changes in hypertrophic cardiomyopathy (HCM). Methods: Seventeen cases of HCM and 12 healthy volunteers received cardiac MRI (CMRI) examination, and left ventricular (LV) 2-chamber long and short axis cine imaging were performed, LV volume-time curves were reconstructed and platform time, different diastolic volume recovery (DVR) time and their corresponding filling velocity were calculated from LV volume-time curve off-line. The DVR time and their corresponding filling velocity were analyzed by using multiple linear regression analysis. Results: Compared with the group of healthy volunteers,ventricular septal HCM group had delayed left ventricular 50%, 70% DVR time [(8.9 ± 1.3) versus (7.7 ± 0.8) phase, F=6.787, P=0.016; (11.3 ±1.6) versus (9.7±1.8) phase, F=4.927, P=0.036] and shortened plateau time [(1.8 ± 1.7) versus (4.1 ± 1.4) phase, t=6.787, P<0.01]. Ventricular septal HCM group had reduced 30%, 50% DVR filling rates [(0.22 ± 0.11) versus (0.40 ± 0.15) ml/ms, F=12.916, P<0.01; (0.20 ± 0.09) versus (0.30 ± 0.10) ml/ms, F=7.121, P=0.014] compared with those in the group of healthy volunteers. But 70%, 80%, 90% DVR filling rates showed no statistically significant different in the two groups. In HCM patients,myocardial fibrosis caused 50%, 70%, 80% DVR time delay [(9.6 ± 1.0) versus (7.9 ± 1.5) phase, F=5.000, P=0.045; (12.3 ± 1.4) versus (9.6 ± 1.8) phase, F=8.039, P=0.015; (13.1 ±1.4) versus (10.9±1.9) phase, F=5.060, P=0.044], but no significant difference of DVR filling rate was found between the two groups. Conclusions: Left ventricular volume curve analysis techniques can be used for detailed evaluation of left ventricular diastolic function. The left ventricular diastolic dysfunction of hypertrophic cardiomyopathy occurs mainly in

  13. 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.

  14. 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.

  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. Contemporary techniques for catheter-based intervention for hypertrophic obstructive cardiomyopathy.

    Science.gov (United States)

    Cuisset, Thomas; Lefèvre, Thierry

    2016-05-17

    Hypertrophic obstructive cardiomyopathy (HOCM) is the most frequent genetic cardiovascular affection and is associated with high mortality and morbidity. Invasive treatment of symptomatic patients with HOCM refractory to drug therapy was limited to surgical myomectomy for years. In the mid 1990s, alcohol septal ablation (ASA) emerged as a new and less invasive option for septal ablation (SA) and is now considered a good alternative with excellent short- and long-term outcomes. Besides ASA, other techniques have been promoted to treat HOCM. The present review aims to summarise current practice and evidence of catheter-based techniques from the treatment of HOCM. We also detail technical points to achieve a safe and effective procedure. PMID:27174111

  17. 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.

  18. [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

  19. 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.

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

    DEFF Research Database (Denmark)

    Christiansen, Liselotte Bruun

    . 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...... to CON (P<0.05). TBARS in heart tended to be increased in HCM cats compared to CON. Conclusion: Findings of the study indicate that mitochondrial dysfunction and enhanced oxidative stress may play an important role in the pathogenesis of feline HCM in the occult stage of disease.......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...

  1. Specificity of systolic anterior motion of anterior mitral leaflet for hypertrophic cardiomyopathy. Prevalence in large population of patients with other cardiac diseases.

    OpenAIRE

    Maron, B. J.; Gottdiener, J S; Perry, L W

    1981-01-01

    The value of systolic anterior motion of the anterior mitral leaflet as a diagnostic marker for hypertrophic cardiomyopathy has been questioned because of its reported occurrence in other heart diseases. To determine the true specificity of systolic anterior motion for hypertrophic cardiomyopathy, 721 echocardiograms from patients with a wide variety of cardiac diseases were reviewed for its presence or absence under basal conditions. Systolic anterior motion of the anterior mitral leaflet wa...

  2. Double heterozygosity for mutations in the β-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy

    OpenAIRE

    Richard, P.; Isnard, R.; Carrier, L.; Dubourg, O.; Donatien, Y.; Mathieu, B.; Bonne, G.; Gary, F; Charron, P; HAGEGE, A.; Komajda, M; Schwartz, K.; Hainque, B

    1999-01-01

    Familial hypertrophic cardiomyopathy is a genetically heterogeneous autosomal dominant disease, caused by mutations in several sarcomeric protein genes. So far, seven genes have been shown to be associated with the disease with the β-myosin heavy chain (MYH7) and the cardiac myosin binding protein C (MYBPC3) genes being the most frequently involved.
We performed electrocardiography (ECG) and echocardiography in 15 subjects with hypertrophic cardiomyopathy from a French Caribbean family. Genet...

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

    International Nuclear Information System (INIS)

    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

  4. 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.

  5. 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.

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

    Science.gov (United States)

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

    2016-01-01

    Viral infections have been implicated as the cause of cardiomyopathy in several mammalian species. This study describes hypertrophic cardiomyopathy (HCM) and myocarditis associated with feline immunodeficiency virus (FIV) infection in five cats aged between 1 and 4 years. Clinical manifestations included dyspnoea in four animals, one of which also exhibited restlessness. One animal showed only lethargy, anorexia and vomiting. Necropsy examination revealed marked cardiomegaly, marked left ventricular hypertrophy and pallor of the myocardium and epicardium in all animals. Microscopical and immunohistochemical examination showed multifocal infiltration of the myocardium with T lymphocytes and fewer macrophages, neutrophils and plasma cells. An intense immunoreaction for FIV antigen in the cytoplasm and nucleus of lymphocytes and the cytoplasm of some macrophages was observed via immunohistochemistry (IHC). IHC did not reveal the presence of antigen from feline calicivirus, coronavirus, feline leukaemia virus, feline parvovirus, Chlamydia spp. or Toxoplasma gondii. The results demonstrate the occurrence of FIV infection in inflammatory cells in the myocardium of five cats with myocarditis and HCM. PMID:26797583

  7. 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.

  8. The Hypertrophic Cardiomyopathy Myosin Mutation R453C Alters ATP Binding and Hydrolysis of Human Cardiac β-Myosin*

    OpenAIRE

    Bloemink, Marieke; Deacon, John; Langer, Stephen; Vera, Carlos; Combs, Ariana; Leinwand, Leslie; Geeves, Michael A.

    2013-01-01

    The human hypertrophic cardiomyopathy mutation R453C results in one of the more severe forms of the myopathy. Arg-453 is found in a conserved surface loop of the upper 50-kDa domain of the myosin motor domain and lies between the nucleotide binding pocket and the actin binding site. It connects to the cardiomyopathy loop via a long α-helix, helix O, and to Switch-2 via the fifth strand of the central β-sheet. The mutation is, therefore, in a position to perturb a wide range of myosin molecula...

  9. Symptomatic hypertrophic obstructive cardiomyopathy: semi-supine bicycle ergometry as a useful provocative manoeuvre to elicit latent gradient

    OpenAIRE

    Dhar, Sanjay Kumar; Varadharajan, Vatchsala; Al-Mohammad, Abdallah; Sandoval, Julie; Grech, Ever D

    2009-01-01

    We report the case of a 58-year-old Caucasian woman with severe symptoms attributable to hypertrophic obstructive cardiomyopathy (HOCM). When supine there was no significant left ventricular outflow tract (LVOT) gradient on echocardiography or cardiac catheter measurements—despite provocation with supine leg exercise and right ventricular pacing. However, semi-supine bicycle exercise induced a marked increase in the LVOT gradient, which helped guide successful percutaneous alcohol septal abla...

  10. 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...

  11. Conservative approach to mitral valve replacement in hypertrophic cardiomyopathy with systolic anterior motion – a case report

    Science.gov (United States)

    Suder, Bogdan; Szymoński, Krzysztof; Wasilewski, Grzegorz; Sadowski, Jerzy; Kapelak, Boguslaw

    2015-01-01

    The authors report the case of a 60-year-old patient with hypertrophic cardiomyopathy (HCM), systolic anterior motion (SAM), and high gradient in the left ventricular outflow tract (LVOT) who underwent surgical treatment. During the surgery, myomectomy of the septum was performed using the Morrow method: despite the persisting SAM and increased LVOT gradients, the mitral valve was not replaced. The case study presents a conservative approach to mitral valve replacement during HCM surgery. PMID:26855652

  12. 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...

  13. 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...

  14. 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)...

  15. 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...

  16. Late enhancement of the left ventricular myocardium in young patients with hypertrophic cardiomyopathy by electron beam computed tomography

    International Nuclear Information System (INIS)

    In the assessment of myocardial characteristics with computed tomography, late enhancement (intense stain in delayed phase image of contrast enhancement) is an abnormal finding and thought to represent fibrotic change. The purpose of this study was to investigate the clinical importance of late enhancement in young patients with hypertrophic cardiomyopathy. Forty-five patients with hypertrophic cardiomyopathy, aged 1 to 24 years, were examined by electron beam computed tomography. We also assessed the clinical data on these patients. Late enhancement was found in 29 (64%) patients, usually as a patchy, stained area in the myocardium. In 29 patients with late enhancement, seven (24%) has syncopal episode and seven (24%) had a family history of sudden death. In contrast, none (0%) of 16 patients without late enhancement had syncopal episode nor a family history of sudden death (p<0.05). Twenty-four hour electrocardiographic monitoring was performed for 31 patients. Al patients with ventricular tachycardia were in the group with late enhancement [10/23 (43%) vs 0/8 (0%), p<0.05]. Thirty-seven patients were examined by thallium scintigraphy. The perfusion defect was more frequently found in patients with late enhancement than in patients without [14/26 (54%) vs 2/11 (18%), p<0.05]. These data suggest that late enhancement shown with electron beam computed tomography is related to syncopal episode, family history of sudden death, ventricular tachycardia, and myocardial damage in young patients with hypertrophic cardiomyopathy. (author)

  17. Assessment of myocardial damage in dilated-phase hypertrophic cardiomyopathy by using indium-111-antimyosin Fab myocardial scintigraphy

    International Nuclear Information System (INIS)

    For the detection of myocardial cell damage, an 111In-antimyosin Fab study was carried out on seven patients (Group A) in the dilated phase of hypertrophic cardiomyopathy, seven patients (Group B) with dilated cardiomyopathy, and eight control patients (Group C). Imaging was done 48 hr after intravenous injection of 74 MBq of 111In-antimyosin Fab. Myocardial antimyosin uptake was visually graded as 0, +1, +2 or +3. A score of +2 or +3 was considered positive. The heart/lung ratio of antimyosin uptake (antimyosin index) also was determined. Antimyosin uptake was positive in seven (100%), nine (90%) and no (0%) patients in Groups A, B, and C, respectively. The antimyosin index in Groups A and B was 2.46 ± 0.49 and 2.04 ± 0.24, respectively, findings were significantly higher than that in Group C (1.51 ± 0.13) (p less than 0.01). Positive biopsy findings were noted in only two patients in Group A. Thus, antimyosin uptake was increased in dilated phase hypertrophic cardiomyopathy and dilated cardiomyopathy, which suggests ongoing necrotic changes in these patients

  18. Hypertrophic Cardiomyopathy from A to Z: Genetics, Pathophysiology, Imaging, and Management.

    Science.gov (United States)

    Baxi, Ameya Jagdish; Restrepo, Carlos S; Vargas, Daniel; Marmol-Velez, Alejandro; Ocazionez, Daniel; Murillo, Horacio

    2016-01-01

    Hypertrophic cardiomyopathy (HCM) is a heterogeneous group of diseases related to sarcomere gene mutations exhibiting heterogeneous phenotypes with an autosomal dominant mendelian pattern of inheritance. The disorder is characterized by diverse phenotypic expressions and variable natural progression, which may range from dyspnea and/or syncope to sudden cardiac death. It is found across all racial groups and is associated with left ventricular hypertrophy in the absence of another systemic or cardiac disease. The management of HCM is based on a thorough understanding of the underlying morphology, pathophysiology, and clinical course. Imaging findings of HCM mirror the variable expressivity and penetrance heterogeneity, with the added advantage of diagnosis even in cases where a specific mutation may not yet be found. The diagnostic information obtained from imaging varies depending on the specific stage of HCM-phenotype manifestation, including the prehypertrophic, hypertrophic, and later stages of adverse remodeling into the burned-out phase of overt heart failure. However, subtle or obvious, these imaging findings become critical components in diagnosis, management, and follow-up of HCM patients. Although diagnosis of HCM traditionally relies on clinical assessment and transthoracic echocardiography, recent studies have demonstrated increased utility of multidetector computed tomography (CT) and particularly cardiac magnetic resonance (MR) imaging in diagnosis, phenotype differentiation, therapeutic planning, and prognostication. In this article, we provide an overview of the genetics, pathophysiology, and clinical manifestations of HCM, with the spectrum of imaging findings at MR imaging and CT and their contribution in diagnosis, risk stratification, and therapy. (©)RSNA, 2016. PMID:26963450

  19. Left ventricular diastolic filling patterns in hypertrophic cardiomyopathy and myocardial infarction

    International Nuclear Information System (INIS)

    Relationship between various parameters of the left ventricular inflow velocity patterns by pulsed Doppler echocardiography and the early diastolic mean filling rate (V1) by multi-gated blood pool scans was evaluated. The materials consist of 26 patients with hypertrophic cardiomyopathy (HCM), 24 with old myocardial infarction (MI), seven with hypertensive heart disease (HHD), seven with dilated cardiomyopathy (DCM), seven with ischemic heart disease (IHD), and 16 normal subjects (N). The results were as follows: 1. Acceleration time (AT) and deceleration time (DT) were significantly prolonged in HCM (120+-20 msec, 147+-23 msec), MI (102+-17 msec, 124+-21 msec), HHD (105+-11 msec, 141+-17 msec) and IHD (111+-16 msec, 122+-20 msec) compared with those of normals (89+-20 msec, 106+-18 msec). 2. V1 was significantly decreased in HCM (1.14+-0.28 sec-1), MI (0.68+-0.24 sec-1), HHD (0.73+-0.12 sec-1), DCM (0.67+-0.30 sec-1) and IHD (1.03+-0.29 sec-1) compared with that of normals (1.48+-0.28 sec-1). 3. There were significant negative correlations between V1 and AT or DT in HCM, IHD with slightly impaired diastolic filling and normals. However, there were significant positive correlations between V1 and AT or DT in MI and DCM. These findings suggested that left ventricular diastolic filling is impaired in both HCM and MI, and that DT-V1 relationship is useful for differentiating HCM characterized by the ''chamber stiffness'' from MI characterized by the ''myocardial stiffness''. (author)

  20. 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

  1. Gated single-photon emission computed tomography detects subendocardial ischemia in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    Patients with hypertrophic cardiomyopathy (HCM) sometimes develop subendocardial ischemia (SEI) in the left ventricle (LV). In the present study it was examined whether volumetric variables obtained by gated single-photon emission computed tomography (SPECT) are useful in detecting exercise-induced SEI in patients with HCM. Exercise 99mTc-tetrofosmin myocardial scintigraphy was performed in 26 HCM patients having non-obstruction and mild hypertrophy with a ventricular septal thickness ≤20 mm. SEI was quantified using software developed previously, and the results were correlated with volumetric variables obtained using Quantitative Gated SPECT software. Exercise-induced percentage change in LV end-systolic volume was higher in 9HCM patients with SEI (25.8±3.1%) than in 17 patients without (10.0±25% p=0.009), although the percentage change in LV end-diastolic volume was similar in the 2 groups. The receiver-operator characteristics curve of the percentage changes in LV end-systolic volume for the detection of SEI showed that the optimal cutoff was 17%. This cutoff point yielded a good diagnostic value for the presence of SEI with a sensitivity of 89%, specificity 82%, and likelihood ratio 5.04. Gated SPECT technique is useful in detecting SEI during exercise in a select population of HCM patients. (author)

  2. Differentiating hypertrophic cardiomyopathy from athlete's heart: An electrocardiographic and echocardiographic approach.

    Science.gov (United States)

    Grazioli, Gonzalo; Usín, Domingo; Trucco, Emilce; Sanz, Maria; Montserrat, Silvia; Vidal, Bàrbara; Gutierrez, Josep; Canal, Ramon; Brugada, Josep; Mont, Lluis; Sitges, Marta

    2016-01-01

    Differential diagnosis of hypertrophic cardiomyopathy (HCM) vs athlete's heart is challenging in individuals with mild-moderate left-ventricular hypertrophy. This study aimed to assess ECG and echocardiographic parameters proposed for the differential diagnosis of HCM. The study included 75 men in three groups: control (n=30), "gray zone" athletes with interventricular septum (IVS) measuring 13-15mm (n=25) and HCM patients with IVS of 13-18mm (n=20). The most significant differences were found in relative septal thickness (RST), calculated as the ratio of 2 x IVS to left ventricle end-diastolic diameter (LV-EDD) (0.37, 0.51, 0.71, respectively; parea under the curve (AUC), as follows: LV-EDD45 (0.75) and RST>0.54 (0.92). Pearson correlation between spatial QRS-T angle>45 and TWI was 0.76 (p 0.01). The combination of spatial QRS-T angle>45 and RST>0.54 for diagnosis of HCM had an AUC of 0.79. The best diagnostic criteria for HCM was RST>0.54. The spatial QRS-T angle>45 did not add sensitivity if TWI was present. No additional improvement in differential diagnosis was obtained by combining parameters. PMID:27016258

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-07-15

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

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

    Directory of Open Access Journals (Sweden)

    Lynne K. Williams

    2015-01-01

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

  5. 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.

  6. 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

  7. Dynamics of left ventricular ejection in obstructive and nonobstructive hypertrophic cardiomyopathy.

    Science.gov (United States)

    Murgo, J P; Alter, B R; Dorethy, J F; Altobelli, S A; McGranahan, G M

    1980-12-01

    The purpose of this study was to examine the dynamics of left ventricular ejection in patients with obstructive and nonobstructive hypertrophic cardiomyopathy (HCM). 30 patients with HCM and 29 patients with no evidence of cardiovascular disease were studied during cardiac catheterization. Using a single multisensor catheter, electromagnetically derived ascending aortic flow velocity and high fidelity left ventricular and aortic pressures were recorded during rest (n = 47) and provocative maneuvers (n = 23). Dynamic ventricular emptying during rest was also analyzed with frame-by-frame angiography (n = 46). Left ventricular outflow was independently derived from both flow velocity and angiographic techniques. The HCM patients were subdivided into three groups: (I) intraventricular gradients at rest (n = 9), (II) intraventricular gradients only with provocation (n = 12), and (III) no intraventricular gradients despite provocation (n = 9). During rest, the percentage of the total systolic ejection period during which forward aortic flow existed was as follows (mean +/- 1 SD): group I, 69 +/- 17% (flow), 64 +/- 6% (angio); group II, 63 +/- 14% (flow), 65 +/- 6% (angio); group III, 61 +/- 16% (flow), 62 +/- 4% (angio); control group, 90 +/- 5% (flow), 86 +/- 9% (angio). No significant difference was observed between any of the HCM subgroups, but compared with the control group, ejection was completed much earlier in systole independent of the presence or absence of intraventricular gradients. These results suggest that "outflow obstruction," as traditionally defined by the presence of an abnormal intraventricular pressure gradient and systolic anterior motion of the mitral valve, does not impede left ventricular outflow in HCM. PMID:6449522

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

    International Nuclear Information System (INIS)

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

  9. 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.

  10. Genetic testing for hypertrophic cardiomyopathy: ongoing voyage from exploration to clinical exploitation

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    Iacopo Olivotto

    2011-07-01

    Full Text Available More than two decades have elapsed since the discovery that sarcomere gene defects cause familial hypertrophic cardiomyopathy (HCM. Since then, genetic testing in HCM has developed and expanded, and is now widely available as a potential clinical service in the Western countries. In the meantime, however, the cross-talk between geneticists and clinicians has developed slowly, and still remains unstandardized, with modalities of interaction and degree of mutual comprehension that vary wildly in various settings. In addition, clinicians often question the clinical utility of genetic testing in HCM patients and their families. The apparent lack of practical benefit, in the face of considerable costs, has long hindered large-scale diffusion of genetic testing, particularly in developing countries, and still accounts for understandable (but not always justifiable resistance on the part of the physicians. However, such resistance is in contrast with considerable evidence supporting a role for molecular diagnosis in tailoring management for HCM patients. We here review several sound clinical reasons in favour of systematic genetic testing in HCM, ranging from identification of complex genotypes, heralding severe disease expression and outcome, to the added benefit of multidisciplinary genetic teamwork, enhancing awareness towards inheritable diseases in the cardiology community. We hope to show that to underestimate the clinical potential of genetic testing in HCM, and to defer its implementation until more advanced knowledge becomes available, is to lose an important opportunity for present improvement in care.

  11. 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.

  12. 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.

  13. 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

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

    International Nuclear Information System (INIS)

    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

  15. Comparison of Clinical Features in Blacks Versus Whites With Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Sorensen, Lars L; Pinheiro, Aurelio; Dimaano, Veronica Lea; Pozios, Iraklis; Nowbar, Alexandra; Liu, Hongyun; Luo, Hong-Chang; Lin, Xiaoping; Olsen, Niels T; Hansen, Thomas F; Sogaard, Peter; Abraham, Maria R; Abraham, Theodore P

    2016-06-01

    To date, there has not been a large systematic examination of the hypertrophic cardiomyopathy (HC) phenotype in blacks versus whites. In this study, we investigate differences in presentation of HC between blacks and whites. We included 441 consecutive patients with HC seen at the Johns Hopkins HC clinic in the period from February 2005 to June 2012. We compared 76 blacks for clinical presentation, electrocardiogram, exercise capacity, left ventricular morphology, and hemodynamics by echocardiography to 365 whites. Black patients with HC more often presented with abnormal electrocardiogram (93% vs 80%, p = 0.009), driven by a significant difference in repolarization abnormalities (79% vs 56%, p Hg; interquartile range [IQR] 7 to 19 vs 16 mm Hg; IQR 8 to 40, p Hg; IQR 16 to 77 vs 59 mm Hg; IQR 26 to 110, p = 0.002). Despite the nonobstructive pathophysiology, blacks had lower exercise capacity (adjusted difference 1.45 metabolic equivalents [0.45 to 2.45], p = 0.005). In conclusion, blacks have an HC phenotype characterized by lower prevalence of the well-recognized echocardiographic features of HC such as systolic anterior movement of the mitral valve and left ventricular outflow tract obstruction and display worse exercise capacity. PMID:27084053

  16. Transient hypertrophic cardiomyopathy in the newborn following multiple doses of antenatal corticosteroids.

    Science.gov (United States)

    Yunis, K A; Bitar, F F; Hayek, P; Mroueh, S M; Mikati, M

    1999-01-01

    Postnatal exposure to steroids has been associated with hypertrophic cardiomyopathy (HCM) in the newborn. Such an effect has not been described in infants born to mothers who received antenatal steroids. We report three newborns whose mothers were treated with betamethasone prenatally in different doses, duration of time, and who developed various degrees of HCM diagnosed by echocardiography. There was no maternal evidence of diabetes except for one infant whose mother had a normal fasting and post-prandial blood glucose prior to steroid therapy, but an abnormal one hour postprandial glucose after 8 weeks of betamethasone therapy, with a normal HbA1 C level. There was no family history of HCM, no history of maternal intake of other relevant medications, and no hypertension in all three newborns. Follow-up echocardiography revealed complete resolution of the HCM changes in all infants. We suggest that repeated antenatal maternal steroid intake may cause changes of HCM in the newborn. These changes appear to be dose- and duration-related and are mostly reversible. Further prospective controlled studies to evaluate these observations and to investigate potential mechanisms are warranted. PMID:10362077

  17. Anaesthesia management of a patient with hypertrophic obstructive cardiomyopathy undergoing Morrow′s septal myectomy

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    Naresh Kumar Agarwal

    2007-01-01

    Full Text Available Hypertrophic obstructive cardiomyopathy (HOCM is a rare disorder. There is paucity of literature on anaesthetic management of this disorder. Aim of this case report is to highlight the anaesthetic problems encountered during management of such patients. A thirty-five year old male was admitted with atypical chest pain for last one year. X-ray chest revealed cardiomegaly (CT ratio 0.6. Electrocardiographic findings were left axis deviation with left ventricular hypertrophy. On echocardiography, there was moderate mitral regurgitation (MR, systolic anterior motion (SAM of anterior mitral leaflet and prominent systolic narrowing of left ventricle cavity. Transoesophageal echocardiography (TOE also showed an anomalous muscle bundle stretching into LV causing obstruction. Preload was kept high. Systemic vascular resistance (SVR was maintained, avoiding use of vasodilators and inotropes. Morrow′s septal myectomy was done. Anomalous muscle bundle was excised. On postoperative TOE, there was no MR and no obstruction. Optimal anaesthetic management in such patients involves maintaining adequate preload, systemic vascular resistance and minimal outflow obstruction. Other considerations are to maintain haemodynamic stability, sinus rhythm and afterload. Transoesophageal echocardiography is an extremely useful monitoring device in such patients.

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

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    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.)

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

    Directory of Open Access Journals (Sweden)

    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

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

    International Nuclear Information System (INIS)

    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 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.)

  1. Decreased myocardial blood volume is a cause of reduced myocardial blood flow reserve in hypertrophic cardiomyopathy

    International Nuclear Information System (INIS)

    The purposes of this study are to know whether myocardial blood volume (MBV) is decreased in the left ventricular myocardium of patients with hypertrophic cardiomyopathy (HCM), and to elucidate which of the decreased MBV or of the reduced rate (mean transit rate of the blood) of myocardial blood flow (MBF), is the cause of the reduced MBF at reactive hyperemia. Subjects were 22 non-obstructive HCM patients (M16/F6, mean age 54 y) exhibiting asymmetric ventricular septum hypertrophy in echocardiography (EC) and 9 male age-matched healthy volunteers. The machine used for EC was Sonos 5500 (Philips Medical Systems) and myocardial contrast EC (MCE) was conducted also with the machine and S3 probe with 1.3/2.6 MHz to get harmonic power Doppler image. The contrast medium was Levovist (Schering AG), which was intravenously infused continuously during EC, and adenosine 5'-triphosphate (ATP) was similarly given to induce the reactive hyperemia. MCE images were processed by the software VoluMap-445 (YD LTD) for calculating MBV (%; mL/100 mL). For obtaining MBF (mL/min/g), positron emission tomography (PET) was done with the machine Siemens/CTI ECAT EXACT HR+Scanner, using 15O-water prepared in Sumitomo cyclotron CYPRIS-HM18, in 13 patients and all volunteers. The mean transit rate was calculated by (MBF/MBV) x 1.67/sec. It was found that MBV was decreased relatedly with the local wall thickness of HCM patients' left ventricular myocardium and MBF was reduced dependently on the decreased MBV at the reactive hyperemia. (R.T.)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-10-15

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

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

    Directory of Open Access Journals (Sweden)

    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.

  4. Relation of Doppler Tissue Imaging Parameters With Heart Failure Progression in Hypertrophic Cardiomyopathy.

    Science.gov (United States)

    Kalra, Ankur; Harris, Kevin M; Maron, Bradley A; Maron, Martin S; Garberich, Ross F; Haas, Tammy S; Lesser, John R; Maron, Barry J

    2016-06-01

    Refractory progressive heart failure (HF) is becoming the predominant cause of mortality in nonobstructive hypertrophic cardiomyopathy (HC). To anticipate development of this important and often unpredictable clinical course, we investigated whether left ventricular diastolic dysfunction, assessed by echocardiographic Doppler parameters, could identify a subset of patients with HC without obstruction at rest who would experience progression of HF. Diastolic function parameters, assessed by Doppler tissue imaging (DTI), mitral inflow, and pulmonary venous flow were measured in 274 consecutive adult patients with HC evaluated from 2003 to 2007. DTI and other diastolic and clinical/demographic parameters were measured against the composite end point of HF/death, heart transplantation, or progression to advanced New York Heart Association functional class III/IV symptoms and sudden death (SD)/implantable defibrillator (ICD) interventions. HF end points were reached in 19 of 274 patients (7%) over a follow-up period of 4.0 ± 2.3 years. Variables significantly associated with HF outcome by univariate analysis included male gender, initial New York Heart Association class II, lower ejection fraction, and reduced septal and lateral e' mitral annular tissue velocities. Multivariable analysis showed only a reduced lateral e' mitral annular tissue velocity to be independently associated with the composite HF end points (HR 0.77; 95% CI 0.65 to 0.91; p = 0.003). In addition, estimated pulmonary arterial systolic pressure and extensive late gadolinium enhancement by magnetic resonance were also associated with HF outcome (p = 0.04 and p <0.001, respectively). No Doppler (or clinical) variable was associated with SD/appropriate ICD interventions. In conclusion, in HC without outflow obstruction at rest, diastolic dysfunction, evidenced by DTI-reduced lateral e' mitral annular tissue velocity, was associated with adverse long-term HF outcome but was unrelated to SD. This

  5. Diltiazem Treatment for Preclinical Hypertrophic Cardiomyopathy Mutation Carriers: A Pilot Randomized Trial to Modify Disease Expression

    Science.gov (United States)

    Ho, Carolyn Y.; Lakdawala, Neal K.; Cirino, Allison L.; Lipshultz, Steven E.; Sparks, Elizabeth; Abbasi, Siddique A.; Kwong, Raymond Y.; Antman, Elliott M.; Semsarian, Christopher; González, Arantxa; López, Begoña; Diez, Javier; Orav, E. John; Colan, Steven D.; Seidman, Christine E.

    2014-01-01

    Background Hypertrophic cardiomyopathy (HCM) is caused by sarcomere mutations and characterized by left ventricular hypertrophy (LVH) with increased risk of heart failure and sudden death. HCM typically cannot be diagnosed early in life, although subtle phenotypes are present. Animal studies indicate alterations in intracellular calcium handling before LVH develops. Furthermore, early treatment with diltiazem appeared to attenuate disease emergence. Objectives To assess the safety, feasibility, and effect of diltiazem as disease-modifying therapy for at-risk HCM mutation carriers. Methods In a pilot, double-blind trial, we randomly assigned 38 sarcomere mutation carriers without LVH (mean age 15.8 years) to therapy with diltiazem 360 mg/day (or 5 mg/kg/day) or placebo. Treatment duration ranged from 12 to 42 months (median 25 months). Study procedures included electrocardiography, echocardiography, cardiac magnetic resonance imaging, and serum biomarker measurement. Results Diltiazem was not associated with serious adverse events. Heart rate and blood pressure did not differ significantly between groups. However, mean left ventricular end diastolic diameter improved towards normal in the diltiazem group but decreased further in controls (change in z-scores, +0.6 vs. −0.5; P<0.001). Mean LV thickness-to-dimension ratio was stable in the diltiazem group, but increased in controls (−0.02 vs. +0.15; P=0.04). Among MYBPC3 mutation carriers, LV wall thickness and mass, diastolic filling, and cardiac troponin I levels improved in those taking diltiazem compared with controls. Four participants developed overt HCM, two in each treatment group. Conclusions Preclinical administration of diltiazem is safe and may improve early LV remodeling in HCM. This novel strategy merits further exploration. PMID:25543971

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

    Directory of Open Access Journals (Sweden)

    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.

  7. Exercise stress thallium-201 myocardial imaging in hypertrophic cardiomyopathy with ventricular tachycardia

    International Nuclear Information System (INIS)

    Exercise stress Thallium-201 emission computed tomogram in hypertrophic cardiomyopathy (HCM) with ventricular tachycardia (VT) was assessed. Twenty-four hour amburatory electrocardiographic monitoring was performed in 26 patients with HCM. VT was detected during monitoring in 8 patients (VT group) and not detected in 18 patients (Non VT group). Every 26 patients exercised on ergometer (graded multi-stage protocol) until they developed chest pain, breathlessness or fatigue. At peak exercise 3 mCi of thallium was injected. Scanning was begun at 10 minutes after the administration of thallium (initial image), and scans were repeated 4 hours later (delayed image). After SPECT image was divided into 6 segments, the presence of perfusion defect (both initial and delayed images) and redistribution in each segments was assessed. The prevalence of perfusion defect was not significantly different between VT group (5 of 8 [63 %]) and Non VT group (7 of 18 [39 %]), and the prevalence of redistribution was not significantry different between VT group (4 of 8 [50 %]) and Non VT group (9 of 18 [50 %]). The prevalence of perfusion defect more than two segments was significantly higher in VT group (4 of 8 [50 %]) than in Non VT group (1 of 18 [6 %]) (p < 0.05). But the prevalence of redistribution more than two segments was not significantly different between VT group (2 of 8 [25 %]) and Non VT group (7 of 18 [39 %]). Coronary arteriography was performed in 17 patients and showed no significant luminal stenosis greater than 75 %. In summary, the prevalence of perfusion defect more than two segments was significantly higher in VT group than in Non VT group. (author)

  8. 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.

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

    International Nuclear Information System (INIS)

    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

  10. Assessment of myocardial damage in hypertrophic cardiomyopathy using cardiac enzymes, myosin light chain and myocardial scintigraphy

    International Nuclear Information System (INIS)

    To assess myocardial damage in hypertrophic cardiomyopathy (HCM), CPK-MB, %LDH 1, myoglobin (Mb), and myosin light chain (MLC) were determined in 45 HCM patients. Of these patients, 10 also underwent Tl-201 myocardial scintigraphy and In-111-antimyosin antibody (In-111 Fab-DTPA)(In-AM) myocardial scintigraphy. MLC was 0.56±0.55 ng/ml. An increase in CPK-MB, %LDH 1, and Mb was seen in 6 (14%), 19 (44%), and 7 (18%) patients, respectively. There was no correlation between MLC and any of CPK-MB, %LDH1 or Mb. Perfusion defects were seen on Tl-201 myocardial scintigrams in 4 patients. All of these patients had diffuse tracer uptake on In-AM myocardial scintigrams. The degree of In-AM uptake was not correlated with MLC; however, of 4 patients with intense In-AM uptake, 3 had perfusion defects on Tl-201 myocardial scintigrams and decreased left ventricular function. In 3 patients in whom CPK-MB and %LDH 1 were increased but MLC was not increased, diffuse tracer uptake was seen on In-AM myocardial scintigrams. Because diffuse uptake of In-AM was seen in spite of the lack of increased MLC, In-111-Fab-DTPA is likely to be incorporated by the myocardial damaged cells, as well as necrotic cells. HCM seems to be associated with a high likelihood of myocardial damage. Integrated assessment of myocardial damage is required, including an increase of MLC, CPK-MB, %LDH 1, and Mb, perfusion defects on Tl-201 scintigrams, and tracer uptake on In-AM scintigrams. (N.K.)

  11. 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

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

    DEFF Research Database (Denmark)

    Rai, Taranjit Singh; Ahmad, Shamim; Bahl, Ajay; Ahuja, Monica; Ahluwalia, Tarun Veer Singh; Singh, Balvinder; Talwar, K K; Khullar, Madhu

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

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

    International Nuclear Information System (INIS)

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

  14. 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

  15. 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

  16. Strain echocardiography is related to fibrosis and ventricular arrhythmias in hypertrophic cardiomyopathy

    Science.gov (United States)

    Haland, Trine F.; Almaas, Vibeke M.; Hasselberg, Nina E.; Saberniak, Jørg; Leren, Ida S.; Hopp, Einar; Edvardsen, Thor; Haugaa, Kristina H.

    2016-01-01

    Aims Hypertrophic cardiomyopathy (HCM) patients are at risk of ventricular arrhythmias (VAs). We aimed to explore whether systolic function by strain echocardiography is related to VAs and to the extent of fibrosis by cardiac magnetic resonance imaging (CMR). Methods and results We included 150 HCM patients and 50 healthy individuals. VAs were defined as non-sustained and sustained ventricular tachycardia and aborted cardiac arrest. Left ventricular function was assessed by ejection fraction (EF) and by global longitudinal strain (GLS) assessed by speckle tracking echocardiography. Mechanical dispersion was calculated as standard deviation (SD) of time from Q/R on ECG to peak longitudinal strain in 16 left ventricular segments. Late gadolinium enhancement (LGE) was assessed by CMR. HCM patients had similar EF (61 ± 5% vs. 61 ± 8%, P = 0.77), but worse GLS (−15.7 ± 3.6% vs. −21.1 ± 1.9%, P < 0.001) and more pronounced mechanical dispersion (64 ± 22 vs. 36 ± 13 ms, P < 0.001) compared with healthy individuals. VAs were documented in 37 (25%) HCM patients. Patients with VAs had worse GLS (−14.1 ± 3.6% vs. −16.3 ± 3.4%, P < 0.01), more pronounced mechanical dispersion (79 ± 27 vs. 59 ± 16 ms, P < 0.001), and higher %LGE (6.1 ± 7.8% vs. 0.5 ± 1.4%, P < 0.001) than patients without VAs. Mechanical dispersion correlated with %LGE (R = 0.52, P < 0.001) and was independently associated with VAs (OR 1.6, 95% CI 1.1–2.3, P = 0.02) and improved risk stratification for VAs. Conclusion GLS, mechanical dispersion, and LGE were markers of VAs in HCM patients. Mechanical dispersion was a strong independent predictor of VAs and related to the extent of fibrosis. Strain echocardiography may improve risk stratification of VAs in HCM. PMID:26873460

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

    International Nuclear Information System (INIS)

    Highlights: • LGE-present HCM had lower Ktrans, higher Ve and MTT against LGE-absent HCM and normal group. • LGE-absent had significantly higher Ve and MTT against normal group. • Ktrans 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 Ktrans), interstitial volume (Ve) 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: Ktrans 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). Ve and MTT were significantly increased in LGE-present (Ve: 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 Ktrans, Ve, MTT, and SESWT (ρ = 0.232, −0.247, −0.443, and −0.207, respectively). Ktrans negatively correlated to SEDWT and SESWT (ρ = −0.224 and −0.231). Ve and MTT positively correlated to SEDWT (Ve: ρ = 0.223; MTT: ρ = 0.239) and SESWT (Ve: ρ = 0.248; MTT: ρ = 0.254). Conclusions: Consistent relationship was determined between myocardial

  18. 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

  19. 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:

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

    International Nuclear Information System (INIS)

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

  1. 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

  2. The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.

    Science.gov (United States)

    Hiippala, Anita; Vasilescu, Catalina; Tallila, Jonna; Alastalo, Tero-Pekka; Paetau, Anders; Tyni, Tiina; Suomalainen, Anu; Euro, Liliya; Ojala, Tiina

    2016-06-01

    We report a 10-year-old girl presenting with severe neonatal hypertrophic cardiomyopathy (HCM), feeding difficulties, mildly abnormal facial features, and progressive skeletal muscle symptoms but with normal cognitive development. Targeted oligonucleotide-selective sequencing of 101 cardiomyopathy genes revealed the genetic diagnosis, and the mutation was verified by Sanger sequencing in the patient and her parents. To offer insights into the potential mechanism of patient mutation, protein structural analysis was performed using the resolved structure of human activated HRAS protein with bound GTP analogue (PDB id 5P21) in Discovery Studio 4.5 (Dassault Systèmes Biovia, San Diego, CA). The patient with hypertrophic cardiomyopathy and normal cognitive development was diagnosed with an HRAS mutation c.173C>T (p.T58I), a milder variant of Costello syndrome affecting a highly conserved amino acid, threonine 58. Our analysis suggests that the p.G12 mutations slow GTP hydrolysis rendering HRAS unresponsive to GTPase activating proteins, and resulting in permanently active state. The p.T58I mutation likely affects binding of guanidine-nucleotide-exchange factors, thereby promoting the active state but also allowing for slow inactivation. Patients with the HRAS mutation c.173C>T (p.T58I) might go undiagnosed because of the milder phenotype compared with other mutations causing Costello syndrome. We expand the clinical and molecular picture of the rare HRAS mutation by reporting the first case in Europe and the fourth case in the literature. Our protein structure analysis offers insights into the mechanism of the mildly activating p.T58I mutation. © 2016 Wiley Periodicals, Inc. PMID:26888048

  3. Coronary vasodilation is impaired in both hypertrophied and nonhypertrophied myocardium of patients with hypertrophic cardiomyopathy: A study with nitrogen-13 ammonia and positron emission tomography

    International Nuclear Information System (INIS)

    To assess regional coronary reserve in hypertrophic cardiomyopathy, regional myocardial blood flow was measured in 23 patients with hypertrophic cardiomyopathy and 12 control subjects by means of nitrogen-13 ammonia and dynamic positron emission tomography. In patients with hypertrophic cardiomyopathy at baseline study, regional myocardial blood flow was 1.14 +/- 0.43 ml/min per g in the hypertrophied (20 +/- 3 mm) interventricular septum and 0.90 +/- 0.35 ml/min per g (p less than 0.05 versus septal flow) in the nonhypertrophied (10 +/- 2 mm) left ventricular free wall. These were not statistically different from the corresponding values in control subjects (1.04 +/- 0.25 and 0.91 +/- 0.21 ml/min per g, respectively, p = NS). After pharmacologically induced coronary vasodilation (dipyridamole, 0.56 mg/kg intravenously over 4 min), regional myocardial blood flow in patients with hypertrophic cardiomyopathy increased significantly less than in control subjects both in the septum (1.63 +/- 0.58 versus 2.99 +/- 1.06 ml/min per g, p less than 0.001) and in the free wall (1.47 +/- 0.58 versus 2.44 +/- 0.82 ml/min per g, p less than 0.001). In addition, patients with hypertrophic cardiomyopathy who had a history of chest pain had more pronounced impairment of coronary vasodilator reserve than did those without a history of chest pain. After dipyridamole, coronary resistance in the septum decreased by 38% in patients without a history of chest pain, but decreased by only 14% in those with such a history (p less than 0.05). Coronary resistance in the free wall decreased by 45% in patients without and by 27% in those with a history of chest pain (p = 0.06)

  4. 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)

  5. 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

  6. Usefulness of PFR/TPFR score to discriminate hypertrophic cardiomyopathy from hypertensive heart disease-using cardiac blood-pool imaging

    International Nuclear Information System (INIS)

    The purpose of the study was to see whether it is possible to discriminate hypertrophic cardiomyopathy from hypertensive heart disease (HHD) with cardiac blood-pool imaging. Subjects were 20 normals, 21 HHD patients and 19 hypertrophic cardiomyopathy (HCM) ones. Cardiac blood-pool imaging was carried out with 99mTc-labeled erythrocyte method to obtain ventricular volume curve and its differential curve for calculation of left ventricular ejection fraction (LVEF), 1/3LVEF, peak filling rate (PFR), time to peak filling rate (TPFR) and PFR/TPFR. LVEF and 1/3LVEF were found insignificant between the three groups. PFR was significantly lower in HCN group, TPFR was significantly prolonged in HCM and PFR/TPFR was significantly higher in HHD. PFR/TPFR was thus useful for discrimination. (K.H.)

  7. Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α-Tropomyosin Mutation for Hypertrophic Cardiomyopathy

    OpenAIRE

    Marisa Ojala; Chandra Prajapati; Risto-Pekka Pölönen; Kristiina Rajala; Mari Pekkanen-Mattila; Jyrki Rasku; Kim Larsson; Katriina Aalto-Setälä

    2015-01-01

    Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease, which affects the structure of heart muscle tissue. The clinical symptoms include arrhythmias, progressive heart failure, and even sudden cardiac death but the mutation carrier can also be totally asymptomatic. To date, over 1400 mutations have been linked to HCM, mostly in genes encoding for sarcomeric proteins. However, the pathophysiological mechanisms of the disease are still largely unknown. Two founder mutations for HCM in ...

  8. 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...

  9. 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

  10. 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.

  11. 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。

  12. 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

  13. 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

  14. 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 ...

  15. 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

  16. Takotsubo cardiomyopathy recurrence with left ventricular apical ballooning following isolated right ventricular involvement: A case report

    Science.gov (United States)

    JOE, BYUNG-HYUN; HWANG, HUI-JEONG; PARK, CHANG-BUM; JIN, EUN-SUN; SOHN, IL-SUK; CHO, JIN-MAN; KIM, CHONG-JIN

    2013-01-01

    We report a case of Takotsubo cardiomyopathy, which involved the right ventricle at first presentation and demonstrated involvement of the left ventricle during recurrence. The patient was admitted to Kyung Hee University Hospital due to a left hip fracture, which was considered a result of physical stress. Complete recovery was confirmed by echocardiography prior to recurrence. The cause of the second event was surgery for the left hip fracture. Recurrence of Takotsubo cardiomyopathy at various cardiac locations provides evidence against the existing hypotheses that variants of Takotsubo cardiomyopathy are associated with anatomically different distributions of cardiac adrenergic receptors, the degree of stimulation by sympathetic activity and different susceptibilities to such sympathetic stimulation. PMID:23935757

  17. 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.

  18. 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.

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

    International Nuclear Information System (INIS)

    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 α-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.)

  20. Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.

    Science.gov (United States)

    Cheng, Yuanhua; Regnier, Michael

    2016-07-01

    Cardiac troponin (cTn) acts as a pivotal regulator of muscle contraction and relaxation and is composed of three distinct subunits (cTnC: a highly conserved Ca(2+) binding subunit, cTnI: an actomyosin ATPase inhibitory subunit, and cTnT: a tropomyosin binding subunit). In this mini-review, we briefly summarize the structure-function relationship of cTn and its subunits, its modulation by PKA-mediated phosphorylation of cTnI, and what is known about how these properties are altered by hypertrophic cardiomyopathy (HCM) associated mutations of cTnI. This includes recent work using computational modeling approaches to understand the atomic-based structural level basis of disease-associated mutations. We propose a viewpoint that it is alteration of cTnC-cTnI interaction (rather than the Ca(2+) binding properties of cTn) per se that disrupt the ability of PKA-mediated phosphorylation at cTnI Ser-23/24 to alter contraction and relaxation in at least some HCM-associated mutations. The combination of state of the art biophysical approaches can provide new insight on the structure-function mechanisms of contractile dysfunction resulting cTnI mutations and exciting new avenues for the diagnosis, prevention, and even treatment of heart diseases. PMID:26851561

  1. 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.)

  2. 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.

  3. 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.

  4. 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.

  5. 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.

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

    International Nuclear Information System (INIS)

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

  7. 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)

  8. 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.

  9. A rare combination of undiagnosed hypertrophic cardiomyopathy revealed by intraoperative anaphylaxis resulting in acute left ventricular outflow obstruction and cardiac arrest.

    Science.gov (United States)

    Smith, Bradford B; Nickels, Andrew S; Sviggum, Hans P

    2016-06-01

    A 75-year-old female presented for left total hip reimplantation and suffered pulseless electrical activity arrest upon lateral positioning and administering vancomycin. Resuscitation was achieved according to Advanced Cardiac Life Support protocol. Post-event echocardiography showed hypertrophic cardiomyopathy with asymmetrical septal thickening, an under-filled left ventricle, dynamic left ventricular outflow obstruction, and severe mitral regurgitation related to systolic anterior motion of the mitral valve. Laboratory analysis showed a tryptase level of 209 ng/mL. After multispecialty evaluation, it was concluded that the patient's arrest was due to vancomycin anaphylaxis in the setting of previously undiagnosed hypertrophic cardiomyopathy leading to acute left ventricular outflow tract obstruction. After medical optimization of the patient's cardiomyopathy and an evaluation of potential intraoperative allergic triggers, the patient underwent a successful hip reimplantation without incident. This case presents a novel combination of events leading to intraoperative cardiac arrest. Rapid identification and an understanding of the cause(s) of cardiac arrest in this setting are critical for effective perioperative care. PMID:27185714

  10. 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.

  11. 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 , ...

  12. 31P magnetic resonance spectroscopy to measure in vivo cardiac energetics in normal myocardium and hypertrophic cardiomyopathy: Experiences at 3 T

    International Nuclear Information System (INIS)

    Background: 31P magnetic resonance spectroscopy (MRS) allows measurement of in vivo high-energy phosphate kinetics in the myocardium. While traditionally 31P cardiac spectroscopy is performed at 1.5 T, cardiac MRS at higher field strength can theoretically increase signal to noise ratio (SNR) and spectral resolution therefore improving sensitivity and specificity of the cardiac spectra. The reproducibility and feasibility of performing cardiac spectroscopy at 3 T is presented here in this study in healthy volunteers and patients with hypertrophic cardiomyopathy. Methods: Cardiac spectroscopy was performed using a Phillips 3T Achieva scanner in 37 healthy volunteers and 26 patients with hypertrophic cardiomyopathy (HCM) to test the feasibility of the protocol. To test the reproducibility a single volunteer was scanned eight times on separate occasions. A single voxel 31P MRS was performed using Image Selected In vivo Spectroscopy (ISIS) volume localization. Results: The mean phosphocreatine/adenosine triphosphate (PCr/ATP) ratio of the eight measurements performed on one individual was 2.11 ± 0.25. Bland Altman plots showed a variance of 12% in the measurement of PCr/ATP ratios. The PCr/ATP ratio was significantly reduced in HCM patients compared to controls, 1.42 ± 0.51 and 2.11 ± 0.57, respectively, P 31P MRS at 3 T is a reliable method of measuring in vivo high-energy phosphate kinetics in the myocardium for clinical studies and diagnostics. Based on our data an impairment of cardiac energetic state in patients with hypertrophic cardiomyopathy is indisputable.

  13. Measurement of left ventricular chamber and myocardial volume in hypertrophic cardiomyopathy patients by ECG-gated myocardial perfusion SPECT. Application of a newly developed edge-detection algorithm

    International Nuclear Information System (INIS)

    Quantitative gated SPECT (QGS) software has been reported to demonstrate inaccurate edge detection in the left ventricular chamber in hypertrophic cardiomyopathy patients. In this study we developed a method to calculate left ventricular volume (LVV) and left myocardial volume (LMV) from gated SPECT data using a newly developed edge-detection algorithm, and we compared it with the QGS method of calculating LVV and LMV in a phantom study. Our method gave more accurate measurements LVV and LMV whereas the QGS method underestimated LMV. Compared with QGS LVV and LMV, our method yielded better results in the phantom study. (author)

  14. 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

  15. 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.

  16. 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.

  17. Left ventricular wall thickness in patients with hypertrophic cardiomyopathy: a comparison between cardiac magnetic resonance imaging and echocardiography.

    Science.gov (United States)

    Corona-Villalobos, Celia P; Sorensen, Lars L; Pozios, Iraklis; Chu, Linda; Eng, John; Abraham, Maria Roselle; Abraham, Theodore P; Kamel, Ihab R; Zimmerman, Stefan L

    2016-06-01

    We assessed whether cardiac MRI (CMR) and echocardiography (echo) have significant differences measuring left ventricular (LV) wall thickness (WT) in hypertrophic cardiomyopathy (HCM) as performed in the clinical routine. Retrospectively identified, clinically diagnosed HCM patients with interventricular-septal (IVS) pattern hypertrophy who underwent CMR and echo within the same day were included. Left Ventricular WT was measured by CMR in two planes and compared to both echo and contrast echo (cecho). 72 subjects, mean age 50.7 ± 16.2 years, 68 % males. Interventricular septal WT by echo and CMR planes showed good to excellent correlation. However, measurements of the postero-lateral wall showed poor correlation. Bland-Altman plots showed greater maximal IVS WT by echo compared to CMR measurement [SAX = 1.7 mm (-5.8, 9.3); LVOT = 1.1 mm (-5.6, 7.8)]. Differences were smaller between cecho and CMR [SAX = 0.8 mm (-9.2, 10.8); LVOT = -0.2 mm (-10.0, 9.6)]. Severity of WT by quartiles showed greater differences between echo and SAX CMR WT compared to cecho. Echocardiography typically measures greater WT than CMR, with the largest differences in moderate to severe hypertrophy. Contrast echocardiography more closely approximates CMR measurements of WT. These findings have potential clinical implications for risk stratification of subjects with HCM. PMID:26896038

  18. Abnormal T2-STIR Magnetic Resonance in Hypertrophic Cardiomyopathy: A Marker of Advanced Disease and Electrical Myocardial Instability

    Science.gov (United States)

    Pisciella, Lorena; Barison, Andrea; Del Franco, Annamaria; Zachara, Elisabetta; Piaggi, Paolo; Re, Federica; Pingitore, Alessandro; Emdin, Michele; Lombardi, Massimo

    2014-01-01

    Background Myocardial hyperintensity on T2-weighted short-tau inversion recovery (STIR) (HyT2) cardiac magnetic resonance (CMR) images has been demonstrated in patients with hypertrophic cardiomyopathy (HCM) and is considered a sign of acute damage. The aim of the current study was to evaluate the relationship between HyT2 and both a) markers of ventricular electrical instability and b) clinical and CMR parameters. Methods Sixty-five patients underwent a thorough clinical examination, consisting of 24-h ECG recording and CMR examination including functional evaluation, T2-STIR images and late gadolinium enhancement (LGE). Results HyT2 was detected in 27 patients (42%), and subjects with HyT2 showed a greater left ventricle (LV) mass index (p<0.001), lower LV ejection fraction (p = 0.05) and greater extent of LGE (p<0.001) compared to those without HyT2. Twenty-two subjects (34%) presented non-sustained ventricular tachycardia (NSVT) on the 24-h ECG recording, 21 (95%) of whom exhibited HyT2. Based on the logistic regression analysis, HyT2 (odds ratio [OR]: 165, 95% CI 11–2455, p<0.001) and LGE extent (1.1, 1.0–1.3, p<0.001) served as independent predictors of NSVT, while the presence of LGE was not associated with NSVT occurrence (p = 0.49). The presence of HyT2 was associated with lower heart rate variability (p = 0.006) and a higher number of arrhythmic risk factors (p<0.001). Conclusions In HCM patients, HyT2 upon CMR examination is associated with more advanced disease and increased arrhythmic burden. PMID:25356653

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

    International Nuclear Information System (INIS)

    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

  20. Rest perfusion abnormalities in hypertrophic cardiomyopathy: correlation with myocardial fibrosis and risk factors for sudden cardiac death

    International Nuclear Information System (INIS)

    Aim: To measure the prevalence of abnormal rest perfusion in a population of consecutive patients with known hypertrophic cardiomyopathy (HCM) referred for cardiovascular MRI (CMR), and to assess any associations between abnormal rest perfusion and the presence, pattern, and severity of myocardial scar and the presence of risk factors for sudden death. Materials and methods: Eighty consecutive patients with known HCM referred for CMR underwent functional imaging, rest first-pass perfusion, and late gadolinium enhancement (LGE). Results: Thirty percent of the patients had abnormal rest perfusion, all of them corresponding to areas of mid-myocardial LGE and to a higher degree of segmental hypertrophy. Rest perfusion abnormalities correlated with more extensive and confluent LGE. The subgroup of patients with myocardial fibrosis and rest perfusion abnormalities (fibrosis+/perfusion+) had more than twice the incidence of episodes of non-sustained ventricular tachycardia on Holter monitoring in comparison to patients with myocardial fibrosis and normal rest perfusion (fibrosis+/perfusion–) and patients with no fibrosis and normal rest perfusion (fibrosis–/perfusion–). Conclusions: First-pass perfusion CMR identifies abnormal rest perfusion in a significant proportion of patients with HCM. These abnormalities are associated with the presence and distribution of myocardial scar and the degree of hypertrophy. Rest perfusion abnormalities identify patients with increased incidence of episodes of non-sustained ventricular tachycardia on Holter monitoring, independently from the presence of myocardial fibrosis. - Highlights: • 30% of patients with HCM have perfusion abnormalities related to scar. • No rest perfusion abnormalities were observed in areas of viable myocardium. • Scar-related perfusion abnormalities were associated with the incidence of NSVT

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  2. 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

  3. 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

  4. [New echocardiographic para-apical technic for determining the size and thickness of the wall of the right ventricle in probands and patients with dilated cardiomyopathy].

    Science.gov (United States)

    Dyczynski, J; Schweitzer, L

    1987-12-01

    To evaluate the right ventricular size and free wall thickness a new echocardiographic para-apical technique was developed. All cases were examined from the para-apical window in the extreme left lateral decubitus position, on a special mattress that allowed us to investigate the total apical region. The para-apical transducer position makes it possible to cut the right ventricle cross-sectionally in serial bread-loafing fashion from the apex to the base, like the left ventricle. In this way, using the M-mode technique, either diameters and/or right ventricular free wall thickness as well as shortening fraction could be estimated. To estimate the usefulness of the para-apical technique, a study was performed in 50 normal subjects as well as in 16 patients with dilated cardiomyopathy. In all patients, standard views and the new para-apical view were performed. In five cases, contrast echocardiography of the heart was performed to verify the right-heart anatomy. In five patients, computer-tomography of the heart was performed to see the position of the right-heart chambers in the chest and to evaluate the new para-apical ultrasound window. The standard values for the right ventricle in the control group were (in mean values): diastolic diameter, 28.61 +/- 3.19 mm; systolic diameter, 19.10 +/- 2.40 mm; free wall thickness, 4.46 +/- 1.06 mm and shortening fraction, 32.42% +/- 4.02%. The examined parameters in patients with dilated cardiomyopathy were: diastolic diameter, mean value 38.63 +/- 5.80 mm; systolic diameter, mean value 32.48 +/- 4.96 mm; free wall thickness, mean value 8.70 +/- 1.05 mm and shortening fraction, mean value 15.96 +/- 4.02%.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:3439250

  5. 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

  6. 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

  7. Prognostic significance of late gadolinium enhancement quantification in cardiac magnetic resonance imaging of hypertrophic cardiomyopathy with systolic dysfunction.

    Science.gov (United States)

    Funada, Akira; Kanzaki, Hideaki; Noguchi, Teruo; Morita, Yoshiaki; Sugano, Yasuo; Ohara, Takahiro; Hasegawa, Takuya; Hashimura, Hiromi; Ishibashi-Ueda, Hatsue; Kitakaze, Masafumi; Yasuda, Satoshi; Ogawa, Hisao; Anzai, Toshihisa

    2016-05-01

    Hypertrophic cardiomyopathy (HCM) with systolic dysfunction carries a poor prognosis. Although late gadolinium enhancement (LGE) on cardiac magnetic resonance is associated with adverse cardiac events in HCM and is inversely related to left ventricular ejection fraction (LVEF), it is unknown whether LGE or LVEF more accurately predicts adverse cardiac events in HCM with systolic dysfunction. We retrospectively assessed the extent of LGE with a threshold of 6 standard deviations in 46 consecutive HCM patients with systolic dysfunction defined as LVEF <50 % (average 35 ± 12 %) who underwent cardiac magnetic resonance (35 males, mean age 59 ± 14 years). They were followed up over 1755 ± 594 days. The composite adverse cardiac events end point included cardiovascular death, lethal arrhythmia, cardioembolic stroke, and unplanned heart failure hospitalization. LGE was detected in all patients, and the mean extent was 30 ± 15 %. Twenty-nine patients developed adverse cardiac events. Multivariate Cox proportional hazard analysis revealed the extent of LGE as a good independent predictor of adverse cardiac events. Risk increased with the extent of LGE (hazard ratio = 1.62/10 % increase in LGE, 95 % confidence interval = 1.23-2.15, p < 0.001). LVEF was inversely related to the extent of LGE (r = -0.44; p = 0.002) and was also an independent predictor of adverse cardiac events. Risk decreased with LVEF (hazard ratio = 0.68/10 % increase in LVEF, 95 % confidence interval = 0.51-0.91, p = 0.010). The Akaike information criterion evaluating the fit of a model demonstrated that the extent of LGE was a better independent predictor of MACE than LVEF (Akaike information criterion = 172.20 and 178.09, respectively).The extent of LGE was a good independent predictor of adverse cardiac events and reflected mortality and morbidity more precisely than LVEF in HCM with systolic dysfunction. PMID:25820658

  8. 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

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

    Directory of Open Access Journals (Sweden)

    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

  10. 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

  11. 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.

  12. Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.

    Science.gov (United States)

    Bottillo, Irene; D'Angelantonio, Daniela; Caputo, Viviana; Paiardini, Alessandro; Lipari, Martina; De Bernardo, Carmelilia; Majore, Silvia; Castori, Marco; Zachara, Elisabetta; Re, Federica; Grammatico, Paola

    2016-06-01

    Genomic technologies are redefining the understanding of genotype-phenotype relationships and over the past decade, many bioinformatics algorithms have been developed to predict functional consequences of single nucleotide variants. This article presents the data from a comprehensive computational workflow adopted to assess the biomedical impact of the DNA variants resulting from the experimental study "Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy" (Bottillo et al., 2016) [1]. Several different independently methods were employed to predict the functional consequences of alleles that result in amino acid substitutions, to study the effect of some DNA variants over the splicing process and to investigate the impact of a sequence variant with respect to the evolutionary conservation. PMID:27054166

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

    DEFF Research Database (Denmark)

    Granström, S; Godiksen, M T N; Christiansen, M;

    2015-01-01

    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...... 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...... echocardiography and registration of survival. RESULTS: The median age at the initial examination was 1.7 years (range, 0.8-9.2 years) and 6.4% (18/282) of the cats were diagnosed with HCM. One hundred sixty-five cats were eligible for echocardiographic re-examination, and during an average follow-up period of 2...

  14. 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.

  15. [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

  16. 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

  17. A case of apical ballooning syndrome in a male with status asthmaticus; highlighting the role of B2 agonists in the pathophysiology of a reversible cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Farah F. Salahuddin

    2013-07-01

    Full Text Available Apical ballooning syndrome (ABS, also known as Takotsubo cardiomyopathy, was first reported by Dote and colleagues in Japanese literature in 1991 in a review of five cases. Case series have highlighted the association of severe psychological stressors as the major precipitating factors of this syndrome. Status Epilepticus and Sub-Arachnoid hemorrhage are also now established independent etiologies for this phenomenon in patients without coronary artery disease. We report a case of reversible apical ventricular dysfunction in a 50-year-old male presenting with status asthmaticus who quickly underwent intubation. Following this, he had ST elevations in precordial leads with mild cardiac enzyme leak. Subsequent cardiac catheterization revealed a left ventricular ejection fraction of 25–30% with apical aneurismal segment. No obstructive disease was observed. Three days later there was marked clinical improvement; the patient was extubated and repeat echocardiography revealed a remarkable return to normal ventricular size and systolic function. Our case demonstrates that excess use of beta-agonists may be a potential risk factor for ABS and raises the possibility of cathecholamine cardiotoxicity being mediated via beta-receptors. Furthermore, it also negates the propensity of apical ballooning so far reported only in women with respiratory distress without confounding emotional stressors.

  18. 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...

  19. Dilated cardiomyopathy

    International Nuclear Information System (INIS)

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

  20. 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.

  1. 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

  2. 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

  3. 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.

  4. 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.)

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

    International Nuclear Information System (INIS)

    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.)

  6. 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

  7. 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)

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

    International Nuclear Information System (INIS)

    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)

  9. 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

  10. 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.

  11. Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.

    Science.gov (United States)

    Zot, Henry G; Hasbun, Javier E; Michell, Clara A; Landim-Vieira, Maicon; Pinto, Jose R

    2016-07-01

    Higher affinity for TnI explains how troponin C (TnC) carrying a causative hypertrophic cardiomyopathy mutation, TnC(A8V), sensitizes muscle cells to Ca(2+). Muscle fibers reconstituted with TnC(A8V) require ∼2.3-fold less [Ca(2+)] to achieve 50% maximum-tension compared to fibers reconstituted with wild-type TnC (TnC(WT)). Binding measurements rule out a significant change in N-terminus Ca(2+)-affinity of isolated TnC(A8V), and TnC(A8V) binds the switch-peptide of troponin-I (TnI(sp)) ∼1.6-fold more strongly than TnC(WT); thus we model the TnC-TnI(sp) interaction as competing with the TnI-actin interaction. Tension data are well-fit by a model constrained to conditions in which the affinity of TnC(A8V) for TnI(sp) is 1.5-1.7-fold higher than that of TnC(WT) at all [Ca(2+)]. Mean ATPase rates of reconstituted cardiac myofibrils is greater for TnC(A8V) than TnC(WT) at all [Ca(2+)], with statistically significant differences in the means at higher [Ca(2+)]. To probe TnC-TnI interaction in low Ca(2+), displacement of bis-ANS from TnI was monitored as a function of TnC. Whereas Ca(2+)-TnC(WT) displaces significantly more bis-ANS than Mg(2+)-TnC(WT), Ca(2+)-TnC(A8V) displaces probe equivalently to Mg(2+)-TnC(A8V) and Ca(2+)-TnC(WT), consistent with stronger Ca(2+)-independent TnC(A8V)-TnI(sp). A Matlab program for computing theoretical activation is reported. Our work suggests that contractility is constantly above normal in hearts made hypertrophic by TnC(A8V). PMID:26976709

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

    Science.gov (United States)

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

    2016-07-01

    Sudden cardiac death (SCD) is a common cause of death in hypertrophic cardiomyopathy (HC). Our aim was to conduct an external and independent validation in South America of the 2014 European Society of Cardiology (ESC) SCD risk prediction model to identify patients requiring an implantable cardioverter defibrillator. This study included 502 consecutive patients with HC followed from March, 1993 to December, 2014. A combined end point of SCD or appropriate implantable cardioverter defibrillator therapy was assessed. For the quantitative estimation of individual 5-year SCD risk, we used the formula: 1 - 0.998(exp(Prognostic index)). Our database also included the abnormal blood pressure response to exercise as a risk marker. We analyzed the 3 categories of 5-year risk proposed by the ESC: low risk (LR) <4%; intermediate risk (IR) ≥4% to <6%, and high risk (HR) ≥6%. The LR group included 387 patients (77%); the IR group 39 (8%); and the HR group 76 (15%). Fourteen patients (3%) had SCD/appropriate implantable cardioverter defibrillator therapy (LR: 0%; IR: 2 of 39 [5%]; and HR: 12 of 76 [16%]). In a receiver-operating characteristic curve, the new model proved to be an excellent predictor because the area under the curve for the estimated risk is 0.925 (statistical C: 0.925; 95% CI 0.8884 to 0.9539, p <0.0001). In conclusion, the SCD risk prediction model in HC proposed by the 2014 ESC guidelines was validated in our population and represents an improvement compared with previous approaches. A larger multicenter, independent and external validation of the model with long-term follow-up would be advisable. PMID:27189816

  13. 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

  14. 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

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

    International Nuclear Information System (INIS)

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

  16. 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.)

  17. 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.)

  18. 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

  19. 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.

  20. [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

  1. Delayed hyperenhancement in magnetic resonance imaging of left ventricular hypertrophy caused by aortic stenosis and hypertrophic cardiomyopathy: visualisation of focal fibrosis

    Science.gov (United States)

    Debl, K; Djavidani, B; Buchner, S; Lipke, C; Nitz, W; Feuerbach, S; Riegger, G; Luchner, A

    2006-01-01

    Objective To compare the extent and distribution of focal fibrosis by gadolinium contrast‐enhanced magnetic resonance imaging (MRI; delayed hyperenhancement) in severe left ventricular (LV) hypertrophy in patients with pressure overload caused by aortic stenosis (AS) and with genetically determined hypertrophic cardiomyopathy (HCM). Methods 44 patients with symptomatic valvular AS (n  =  22) and HCM (n  =  22) were studied. Cine images were acquired with fast imaging with steady‐state precession (trueFISP) on a 1.5 T scanner (Sonata, Siemens Medical Solutions). Gadolinium contrast‐enhanced MRI was performed with a segmented inversion–recovery sequence. The location, extent and enhancement pattern of hyperenhanced myocardium was analysed in a 12‐segment model. Results Mean LV mass was 238.6 (SD 75.3) g in AS and 205.4 (SD 80.5) g in HCM (p  =  0.17). Hyperenhancement was observed in 27% of patients with AS and in 73% of patients with HCM (p < 0.01). In AS, hyperenhancement was observed in 60% of patients with a maximum diastolic wall thickness ⩾ 18 mm, whereas no patient with a maximum diastolic wall thickness < 18 mm had hyperenhancement (p < 0.05). Patients with hyperenhancement had more severe AS than patients without hyperenhancement (aortic valve area 0.80 (0.09) cm2v 0.99 (0.3) cm2, p < 0.05; maximum gradient 98 (22) mm Hg v 74 (24) mm Hg, p < 0.05). In HCM, hyperenhancement was predominant in the anteroseptal regions and patients with hyperenhancement had higher end diastolic (125.4 (36.9) ml v 98.8 (16.9) ml, p < 0.05) and end systolic volumes (38.9 (18.2) ml v 25.2 (1.7) ml, p < 0.05). The volume of hyperenhancement (percentage of total LV myocardium), where present, was lower in AS than in HCM (4.3 (1.9)% v 8.6 (7.4)%, p< 0.05). Hyperenhancement was observed in 4.5 (3.1) and 4.6 (2.7) segments in AS and HCM, respectively (p  =  0.93), and the enhancement

  2. Resultados a longo prazo da miectomia septal no tratamento da cardiomiopatia hipertrófica Long term results of septal myectomy in the treatment of obstructive hypertrophic cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Luiz Augusto Ferreira Lisboa

    2011-03-01

    Full Text Available OBJETIVO: Avaliação clínica e ecocardiográfica tardia da miectomia septal cirúrgica de pacientes com cardiomiopatia hipertrófica obstrutiva (CMHO. MÉTODOS: Foram analisados, retrospectivamente, 34 pacientes adultos (média de 55,7±15,2 anos portadores de CMHO operados consecutivamente na instituição entre 1988 e 2008. Apenas quatro (11,8% pacientes tinham conhecimento de história familiar para CMHO. Nove (26,5% pacientes apresentavam insuficiência cardíaca (NYHA classe funcional IV. Trinta (88,2% pacientes apresentavam CMHO isolada e, em quatro (11,8%, a CMHO estava associada à insuficiência coronária. A técnica cirúrgica utilizada em todos os casos foi a miectomia septal transaórtica. RESULTADOS: Em 26 (76,5% pacientes, a insuficiência mitral decorrente do movimento anterior sistólico regrediu após a miectomia. Em oito (23,5% pacientes, houve necessidade de abordagem da valva mitral. Houve um (2,9% óbito hospitalar. Dois (5,9% pacientes necessitaram de marcapasso definitivo no pós-operatório. Em média, o gradiente de pico pré-operatório na via de saída do ventrículo esquerdo, que era de 84,9±29,0 mmHg, diminuiu para 27,8±12,9 mmHg no pós-operatório inicial e caiu para 19,2±11,2 mmHg no pós-operatório tardio (49,0±33,0 meses. A classe funcional (NYHA que, em média, era de 3,1±0,8 passou para 1,4±0,5 no pós-operatório. Com seguimento médio de 9,6±8,4 anos, a sobrevida foi de 87,9% e a sobrevida livre de eventos cardiovasculares foi de 77,7%. CONCLUSÃO: A miectomia septal cirúrgica pode ser realizada de modo seguro, com excelente sobrevida, melhora dos sintomas e alívio da obstrução na via de saída do ventrículo esquerdo em pacientes com CMHO. Os benefícios iniciais se mantiveram a longo prazo.OBJECTIVE: This study analyzed the clinical and echocardiographic late outcomes of surgical septal myectomy in patients with obstructive hypertrophic cardiomyopathy (OHCM. METHODS: We examined

  3. 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

  4. 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 ...

  5. Hypertrophic cardiomyopathy in high-fat diet-induced obesity: role of suppression of forkhead transcription factor and atrophy gene transcription

    OpenAIRE

    Fang, Cindy X.; Dong, Feng; Thomas, D. Paul; Ma, Heng; He, Leilei; Ren, Jun

    2008-01-01

    Cellular hypertrophy is regulated by coordinated pro- and antigrowth machineries. Foxo transcription factors initiate an atrophy-related gene program to counter hypertrophic growth. This study was designed to evaluate the role of Akt, the forkhead transcription factor Foxo3a, and atrophy genes muscle-specific RING finger (MuRF)-1 and atrogin-1 in cardiac hypertrophy and contractile dysfunction associated with high-fat diet-induced obesity. Mice were fed a low- or high-fat diet for 6 mo along ...

  6. 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...

  7. 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。

  8. 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.

  9. 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

  10. 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.

  11. 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 ...

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

    Directory of Open Access Journals (Sweden)

    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.

  13. 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

  14. 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

    Directory of Open Access Journals (Sweden)

    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

  15. The diagnostic value of cardiac blood pool imaging in cardiomyopathy

    International Nuclear Information System (INIS)

    Twenty-two normal controls and thirty-three patients with dilated and hypertrophic cardiomyopathy were examined by multigated cardiac imaging and phase analysis. The imaging traits of hypertrophic ones displayed thicken septal wall. The differences of synchronization of ventricular systolic function between hypertrophic ones and normal were statistically significant (P < 0.01). The imaging features of dilated cardiomyopathy showed that ventricular wall motion was seriously hypokinitic or akinitic and left ventricule enlarged abnormally. The function and synchronization of ventricular systole in dilated ones were worse than these in the hypertrophic (P < 0.01). These data suggest that the cardiac blood pool images can diagnose and differentiate the hypertrophic from dilated cardiomyopathy

  16. 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

  17. 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 ...

  18. 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

  19. 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

  20. 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.

  1. 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

  2. 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...

  3. 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.

  4. 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...

  5. Insights into restrictive cardiomyopathy from clinical and animal studies

    OpenAIRE

    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...

  6. 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.

  7. 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 ...

  8. Pediatric Cardiomyopathies

    Science.gov (United States)

    ... Pressure High Blood Pressure Tools & Resources Stroke More Pediatric Cardiomyopathies Updated:Oct 22,2015 Patient education material ... oxygen or high blood pressure. According to the Pediatric Cardiomyopathy Registry, one in every 100,000 children ...

  9. Dilated cardiomyopathy

    Science.gov (United States)

    Cardiomyopathy - dilated ... The most common causes of dilated cardiomyopathy are: Heart disease caused by a narrowing of the arteries Poorly controlled high blood pressure There are many other causes of dilated ...

  10. Reversible transient apical ballooning syndrome with coronary lesions

    Institute of Scientific and Technical Information of China (English)

    Yunshan Cao; Min Zhang; Xiang Li; Ping Xie; Lynn Cronin

    2009-01-01

    Transient apical ballooning syndrome(Tako-Tsubo syndrome or ampulla cardiomyopathy) occurs predominantly in women over 60 years of age with a history of recent physical or psychological stress. We present a case of a male patient with reversible transient apical ballooning syndrome with significant coronary lesions and other ECG changes that did not explain the clinical symptoms.

  11. 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

  12. 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.

  13. 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

  14. Acute gastritis-induced Takotsubo's cardiomyopathy

    OpenAIRE

    Villablanca, Pedro A.; Sukhal, Shashvat; Ansari, Asimul; Mohammed, Dergham

    2013-01-01

    Key Clinical Message A 50-year-old lady presented with epigastralgia, electrocardiogram (ECG) showed T-wave inversions and the echocardiogram low ejection fraction (EF) with apical ballooning. An esophagogastroduodenoscopy (EGD) revealed gastritis. She recovered with proton pump inhibitors treatment. This is the first case that describes gastritis-induced stress cardiomyopathy. Clinicians should be aware of Takotsubo's cardiomyopathy (TCM) as a possible complication of gastritis.

  15. 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

  16. 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

  17. 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.

  18. 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

  19. 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...

  20. Indium-111 antimyosin monoclonal antibody uptake in patients with cardiomyopathy and myocarditis

    International Nuclear Information System (INIS)

    Prognostic significance of myocardial uptake of indium-111 antimyosin antibody was evaluated in 17 patients with idiopathic cardiomyopathy; 10 patients with dilated cardiomyopathy and 7 patients with hypertrophic cardiomyopathy. Seven of 10 patients with dilated cardiomyopathy showed positive images. Three of these 7 patients with strongly positive scans died after scintigraphic examination. Six of 7 patients with hypertrophic cardiomyopathy showed positive images. Three of the patients with dilated left ventricle had prominent positive scans and higher heart to lung ratio. The heart to lung ratio of antimyosin uptake in total patients was correlated with left ventricular end-diastolic dimension and ejection fraction measured by echocardiography. In patients with myocarditis, all three patients showed positive scintigrams within 4 weeks after the onset of the disease and 1 of 6 patients was positive thereafter, who had dilated ventricle and decreased cardiac function. Thus, indium-111 antimyosin antibody imaging may be useful to evaluate prognosis of patients with cardiomyopathy and myocarditis. (author)

  1. 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

  2. Severity of dilated cardiomyopathy (DCM)

    International Nuclear Information System (INIS)

    In order to assess the severity of dilated cardiomyopathy, thallium scan was performed in 60 cases. In 16 of all, serial thallium scan was performed in the periods of average 26 months. In these cases, extension of perfusion defect was observed from apical to inferoposterior regions. Therefore, we classified dilated cardiomyopathy into three groups by thallium scan; (I) dilated left ventricular type (n = 16), (II) apical hypoperfusion type (n = 12), (III) inferoposterior perfusion defect type (n = 32). These groups were correlated with hemodynamic findings. All patients had also cardiac catheterization and gated blood pool scan. As results, group III had high incidence of right ventricular and lung thallium uptake and patchy pattern compared to other groups. Group III had also high incidence of dyspnoea on exertion, S3 and ECG abnormalities. In hemodynamics, end-diastolic ventricular volume index and end-systolic ventricular volume index increased and, right ventricular ejection fraction and left ventricular ejection fraction decreased according to the severity of dilated cardiomyopathy from group I to III. In addition, the incidence of mitral regurgitation and dyskinesis was observed highly in group III. In conclusion, perfusion defect was frequently demonstrated in dilated cardiomyopathy without coronary artery stenosis. And right and left ventricular function was depressed according to the extension of perfusion defect. (author)

  3. An autopsied case of cardiomyopathy demonstrated specific findings by thallium-201 myocardial scintigraphy

    International Nuclear Information System (INIS)

    A few cases showing dilatation and decreased contraction of the left ventricle at the terminal stage of hypertrophic cardiomyopathy (dilated-HCM) have been reported. Recently, we experienced a case of dilated-HCM and compared thallium-201 myocardial scintigraphic findings with histological findings. Thallium-201 myocardial scintigraphic findings resembled that of dilated cardiomyopathy (dilated biventricle and large perfusion defect). But, histological findings revealed large fibrosis and disarray of myocardial cells. These observation from thallium-201 myocardial scintigraphy was useful for the assessment of myocardial fibrosis of hypertrophic cardiomyopathy. (author)

  4. [Peripartum cardiomyopathy].

    Science.gov (United States)

    Fennira, S; Demiraj, A; Khouaja, A; Boujnah, M R

    2006-10-01

    Peripartum cardiomyopathy is a rare and under recognized form of dilated cardiomyopathy, defined as a heart failure in the last month of pregnancy or in the first five months post-partum with absence of determinable cause for cardiac failure and absence of demonstrable heart disease. The incidence of peripartum cardiomyopathy ranges from 1 in 1300 to 1 in 15,000 pregnancy. Advanced maternal age, multiparity, twin births, preeclampsia and black race are known risk factors. The etiology of peripartum cardiomyopathy remains unknown but viral, autoimmune or idiopathic myocarditis are highly suggested. The clinical presentation on patients with peripartum cardiomyopathy is similar to that of patients with systolic heart failure. The treatment is based on drugs for sympyomatic control. Studies in graeter populations are need to determine the role of immunosupressive treatment. About half patients of peripartum cardiomyopathy recover. The left ventricular ejection fraction and the left ventricular end-diastolic diameter are statistically significant prognostic factors. The risk of developing peripartum cardiomyopathy in subsequent pregnancies remains high. The place of dobutamine stress test in counseling the patients who desire pregnancy must be more studied. PMID:17078264

  5. Magnetic Resonance Imaging of cardiomyopathy

    International Nuclear Information System (INIS)

    MRI has been proposed as a noninvasive method for evaluating patients with a variety of cardiomyopathies. Arrhythmogenic right ventricular dysplasia (ARVD) is defined as a primary disorder of the right ventricle characterized by partial or total replacement of muscle by adipose or fibrous tissue. Its diagnosis currently rests on techniques that accurately identify specific anatomic and functional abnormalities of the right ventricle. The aim of our study was to analyze the MRI features in 41 patients (age 19-64 years; 26 patients with ARVD, 7 patients with hypertrophic cardiomyopathy (HCM) and 8 patients with dilated cardiomyopathy (DCM)). They were investigated by spin-echo (SE) and gradient-echo (GE) Cine using a 0.5T unit Toshiba 50A with cardiac software. SE and Cine MRI allowed assessment of localization (hence type of HC) and extent of changes in visualized wall and ventricular dysfunction. In all patients with ARVD MRI SE-T1 W allowed localization of the abnormally bright signal intensity from the RV-free wall, apex and subtricuspid region, characteristic for the subcutenous fat. In 8 patients the structural changes were also present in left ventricular myocardium. MRI can be a useful method in supplying additional information to that obtained in 2D Echo by identifying the site, extent and type of cardiomyopathy. MRI is a very useful non-invasive method in diagnosis of ARVD. (author)

  6. Three cases of flying personnel with apical hypertrophy cardiomyopathy and literature review%飞行人员心尖肥厚型心肌病3例并文献复习

    Institute of Scientific and Technical Information of China (English)

    李洁; 王军; 薛霞; 汪东军; 王青青

    2016-01-01

    目的 探讨心尖肥厚型心肌病对飞行人员飞行的影响及航空医学鉴定原则. 方法 分析3例飞行人员心尖肥厚型心肌病的诊断、治疗、预后及医学鉴定,并复习相关文献. 结果 3例飞行人员均无临床症状,均为平时体检中发现心电图、超声心动图异常,诊断为心尖肥厚型心肌病.病例1观察24年,安全飞行19 000 h,观察期间心电图V3、V4导联倒置的T波,由0.4 mV加深至0.9 mV,心尖部厚度由12 mm增至19 mm;病例2观察22年,安全飞行20 000 h,观察期间心电图V3~V5导联倒置的T波,由0.5 mV加深至1.4 mV,心尖部厚度由12 mm增至24 mm;病例3观察9年,安全飞行1 000 h,观察期间心电图V5导联倒置的T波,由0.2mV加深至0.6mV,心尖部厚度由12 mm增至17 mm. 结论 及早发现飞行人员隐匿性心尖肥厚型心肌病有助于临床追踪.因本病预后较好,可以考虑放飞,但必须严密监控,并建议个别评定.%Objective To discuss the influence of apical hypertrophy cardiomyopathy (AHCM) on the flying personnel's and the evaluation principle of aeromedicine.Methods The clinical AHCM data,including diagnosis,therapy and prognosis of three pilots were analyzed and related literatures were reviewed.Results Three flying personnel cases were without clinical symptoms but were diagnosed as AHCM according to abnormal electrocardiogram and echocardiogram in physical examination.In 24-year follow-up of case 1 the ECG showed T wave inversion upon V3,V4 leads and the amplitude raised from 0.4 mV to 0.9 mV,the thickness of apex cordis increased from 12 mm to 19 mm.But he had safe flight for 19 000 h.Case 2 showed T wave inversion upon V3-V5 leads and the amplitude changed from 0.5 mV to 1.4 mV,the thickness of apex cordis varied from 12 mm to 24 mm in 22-year follow-up.He had safe flight for 20 000 h.Nine-year follow-up was taken for case 3 that also appeared T wave inversion on V5 lead,amplitude changed from 0.2 mV to 0.6 mV and the

  7. 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 ...

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

    DEFF Research Database (Denmark)

    Busk, Peter K.; Cirera, Susanna

    2010-01-01

    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 was......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...

  9. Recurrent Takotsubo Cardiomyopathy Related to Recurrent Thyrotoxicosis

    Science.gov (United States)

    Patel, Keval; Griffing, George T.; Hauptman, Paul J.

    2016-01-01

    Takotsubo cardiomyopathy, or transient left ventricular apical ballooning syndrome, is characterized by acute left ventricular dysfunction caused by transient wall-motion abnormalities of the left ventricular apex and mid ventricle in the absence of obstructive coronary artery disease. Recurrent episodes are rare but have been reported, and several cases of takotsubo cardiomyopathy have been described in the presence of hyperthyroidism. We report the case of a 55-year-old woman who had recurrent takotsubo cardiomyopathy, documented by repeat coronary angiography and evaluations of left ventricular function, in the presence of recurrent hyperthyroidism related to Graves disease. After both episodes, the patient's left ventricular function returned to normal when her thyroid function normalized. These findings suggest a possible role of thyroid-hormone excess in the pathophysiology of some patients who have takotsubo cardiomyopathy. PMID:27127432

  10. [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

  11. Indium-111 antimyosin monoclonal antibody Fab imaging in patients with cardiomyopathy

    International Nuclear Information System (INIS)

    Six patients with cardiomyopathy were imaged following intravenous injection of an indium-111 labeled monoclonal antibody directed against the heavy chain of cardiac myosin. Two patients had hypertrophic non-obstructive cardiomyopathy (HNCM), two patients had dilated cardiomyopathy (DCM), and two patients had specific heart muscle disease. One of 2 patients with HNCM and one of 2 patients with DCM had a positive antimyosin scan. The 2 patients with specific heart muscle disease manifested persistent blood pool activity of the antibody, thereby precluding interpretation of the images. The present report demonstrates that antimyosin antibody imaging may provide evidence of myocardial injury, or necrosis in some patients with cardiomyopathy. (author)

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

    DEFF Research Database (Denmark)

    Mogensen, Jens; Hey, Thomas; Lambrecht, Sascha

    2015-01-01

    BACKGROUND: Genetic investigations have established that mutations in proteins of the contractile unit of the myocardium, known as the sarcomere, may be associated with hypertrophic cardiomyopathy (HCM), restrictive cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). It has become clinical...... in relation to phenotypic features reported to be associated with mutations in cardiac troponin I (cTnI; TNNI3), which is a recognized sarcomeric disease gene in all 3 cardiomyopathies. RESULTS: The results of this review did not identify specific genotype-phenotype relations in HCM or DCM, and c...

  13. 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

  14. 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...

  15. Metabolic imaging of patients with cardiomyopathy

    International Nuclear Information System (INIS)

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

  16. 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.

  17. Takotsubo cardiomyopathy – An unexpected complication in spine surgery

    OpenAIRE

    Hammer, Niels; Kühne, Christian; Meixensberger, Jürgen; Hänsel, Bernd; Winkler, Dirk

    2014-01-01

    Introduction: Takotsubo cardiomyopathy is an apical ballooning syndrome, which can be triggeredby stress. Only few case reports describe the onset of Takotsubo as a complication of neurosurgery procedures. Clinical presentation: A case of a 53 year-old female with a spinal neurinoma and surgery-associated Takotsubo cardiomyopathy is demonstrated. The patient developed typical signs of a myocardial infarction with circulation depression and ST elevation, but normal cardiac enzymes at the end o...

  18. Apical ballooning syndrome complicated by acute severe mitral regurgitation with left ventricular outflow obstruction – Case report

    OpenAIRE

    Celermajer David S; Chandrasegaram Manju D; Wilson Michael K

    2007-01-01

    Abstract Background Apical ballooning syndrome (or Takotsubo cardiomyopathy) is a syndrome of transient left ventricular apical ballooning. Although first described in Japanese patients, it is now well reported in the Caucasian population. The syndrome mimicks an acute myocardial infarction but is characterised by the absence of obstructive coronary disease. We describe a serious and poorly understood complication of Takotsubo cardiomyopathy. Case Presentation We present the case of a 65 year...

  19. 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.

  20. Cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

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

    2014-01-01

    Cirrhosis is known to cause alterations in the systemic haemodynamic system. Cirrhotic cardiomyopathy designates a cardiac dysfunction that includes impaired cardiac contractility with systolic and diastolic dysfunction, as well as electromechanical abnormalities in the absence of other known...... causes of cardiac disease. This condition is primarily revealed by inducing physical or pharmacological stress, but echocardiography is excellent at revealing diastolic dysfunction and might also be used to detect systolic dysfunction at rest. Furthermore, measurement of circulating levels of cardiac...... 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....

  1. Assessment of cardiac function by radionuclide angiocardiography in children with cardiomyopathy

    International Nuclear Information System (INIS)

    Radionuclide angiography was performed in four children, each having dilated cardiomyopathy (DCM), hypertrophic nonobstructive cardiomyopathy (HCM), hypertrophic obstructive cardiomyopathy (HOCM), or restrictive cardiomyopathy (RCM), whose ages ranged from 5 to 8 years. The peak to peak time of flow from the right to left ventricle, which was corrected by heart rate, was prolonged in all the patients. Left ventricular ejection fraction was low in the DCM patient, and high in the HOCM patient. In the DCM patient, both peak ejection rate and peak filling rate of the left ventricle were low. Two patients with either DCM or HOCM had the prolongation of percent duration to peak filling rate, as opposed to the RCM patient having short percent duration. In the RCM patient, right ventricular ejection fraction was low, and time-volume curve showed rapid filling during early diastole. Radionuclide angiography is recommended as a noninvasive method of evaluating cardiac functional characteristics for various types of myocardiopathy. (Namekawa, K.)

  2. What's Cardiomyopathy

    Science.gov (United States)

    ... is the more common form, the distribution of muscle thickness (hypertrophy), location, and degree of wall thickness may vary ... ventricle including the septum and wall) and apical hypertrophy (thickening ... three cases, the thickening of the muscle walls cause the heart chamber to be stiffer ...

  3. 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

  4. 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...

  5. Takotsubo cardiomyopathy in a Caucasian Italian woman: Case report

    Directory of Open Access Journals (Sweden)

    Castellani Debora

    2007-04-01

    Full Text Available Abstract Background Takotsubo cardiomyopathy is an acute cardiac syndrome characterized by transient LV regional wall motion abnormalities (with peculiar apical ballooning appearance, chest pain or dyspnea, ST-segment elevation and minor elevations of cardiac enzyme levels Case presentation A 68-year-old woman was admitted to the Emergency Department because of sudden onset chest pain occurred while transferring her daughter, who had earlier suffered a major seizure, to the hospital. The EKG showed sinus tachycardia with ST-segment elevation in leads V2–V3 and ST-segment depression in leads V5–V6, she was, thus, referred for emergency coronary angiography. A pre-procedural transthoracic echocardiogram revealed regional systolic dysfunction of the LV walls with hypokinesis of the mid-apical segments and hyperkinesis of the basal segments. Coronary angiography showed patent epicardial coronary arteries; LV angiography demonstrated the characteristic morphology of apical ballooning with hyperkinesis of the basal segments and hypokinesis of the mid-apical segments. The post-procedural course was uneventful; on day 5 after admission the echocardiogram revealed full recovery of apical and mid-ventricular regional wall-motion abnormalities. Conclusion Takotsubo cardiomyopathy is a relatively rare, unique entity that has only recently been widely appreciated. Acute stress has been indicated as a common trigger for the transient LV apical ballooning syndrome, especially in postmenopausal women. The present report is a typical example of stress-induced takotsubo cardiomyopathy in a Caucasian Italian postmenopausal woman.

  6. MRI of restrictive cardiomyopathy

    International Nuclear Information System (INIS)

    Objective: To evaluate the diagnostic value of MRI in combination of delayed gadolinium-enhanced MR imaging for the identification of restrictive cardiomyopathy (RCM). Methods: One hundred sixteen patients with RCM underwent ECG, thoracic radiography, echocardiography and MRI. The final diagnosis was made on comprehensive evaluation in consideration of patient history, clinical symptoms and imaging appearances. Fifty-five normal subjects were used as the controls. All patients were divided into two groups according to contrast-enhanced MRI patterns: RCM with delayed enhancement (RCM with DE, n=35) and RCM without delayed enhancement (RCM without DE, n=81). Bi-atrial and bi-ventricular size, ventricular septal and left free wall thickness were measured. A paired t-test was used for statistic analysis. Results: Bi-atrial size, right ventricular diastolic diameter (RVDD), ventricular septal and left free wall thickness were significantly larger in RCM patients than in normal subjects (P0.05). Visual observation showed mild mitral regurgitation (50 cases), moderate mitral regurgitation (24 cases ), mild tricuspid regurgitation (32 cases) and severe tricuspid regurgitation (46 cases). Thirty-five RCMs with DE presented diffuse (15 cases) or segmental (20 cases) enhancement. Twelve RCMs with diffuse delayed enhancement showed powdery, enhancement, and 3 showed petaline enhancement. Three cases with powdery enhancement were histologically proven as myocardial amyloidosis. Ventricular septum was the most vulnerable segment in patients with segmental enhancement. Six cases presented subendocardial enhancement that corresponded to apical obliteration, of which one case was confirmed as hypereosinophilia by bone marrow biopsy and the other 14 cases didn't present any regular enhancement. In 81 RCMs without DE, marked bi-atrial dilation, near-normal ventricular chambers and near-normal ventricular thickness were presented. Conclusion: MRI is an excellent imaging modality for

  7. Takotsubo Cardiomyopathy in an Adult Woman With Repaired Tetralogy of Fallot.

    Science.gov (United States)

    Nguyen, Lan T; Schelbert, Erik B; Cook, Stephen C

    2016-05-01

    Takotsubo cardiomyopathy is a reversible form of cardiomyopathy rarely reported in the adult congenital patient. We describe a case of a 49-year-old woman with repaired tetralogy of Fallot who presented with acute dyspnea. A 12-lead electrocardiogram revealed diffuse anterolateral T-wave inversion suggestive of myocardial ischemia. Cardiac catheterization was performed, demonstrating angiographically normal coronary arteries. A cardiovascular magnetic resonance examination showed apical akinesis with associated myocardial edema, but no myocardial damage on late gadolinium enhancement imaging, which is a characteristic of Takotsubo cardiomyopathy. The patient was treated medically. A follow-up echocardiogram demonstrated normalization of left ventricular systolic function and apical wall motion abnormalities. PMID:26701619

  8. 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...

  9. 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.

  10. Iatrogenic takotsubo cardiomyopathy induced by locally applied epinephrine and cocaine

    DEFF Research Database (Denmark)

    Sundbøll, Jens; Pareek, Manan; Høgsbro, Morten;

    2014-01-01

    normal coronary arteries; however, left ventriculography showed apical ballooning of the left ventricle, and the diagnosis of takotsubo cardiomyopathy was made. This was confirmed by a subsequent transthoracic echocardiography. Four days later the patient had complete resolution of the symptoms, and a...

  11. 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

  12. Cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Møller, Søren; Henriksen, Jens H

    2010-01-01

    Increased cardiac output was first described in patients with cirrhosis more than fifty years ago. Later, various observations have indicated the presence of a latent cardiac dysfunction, which includes a combination of reduced cardiac contractility with systolic and diastolic dysfunction and......, nitric oxide overproduction, and cannabinoid receptor activation. Systolic incompetence in patients can be revealed by pharmacological or physical strain and during stressful procedures, such as transjugular intrahepatic portosystemic shunt insertion and liver transplantation. Systolic dysfunction has...... cirrhotic patients and it may be normalised by beta-blockers. No specific therapy for cirrhotic cardiomyopathy can be recommended, but treatment should be supportive and directed against the cardiac dysfunction. Future research should better describe the prevalence, impact on morbidity and survival, and...

  13. 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. )

  14. Analysis of left ventricular function in patients with idiopathic cardiomyopathy

    International Nuclear Information System (INIS)

    Assessment of left ventricular function by cardiac pool scintigraphy and that of the regional wall motion by Fourier analysis were done in 43 cases of idiopathic cardiomyopathy and normal cases at rest and exercise stress. The normal group showed a linear increase of the left ventricular ejection fraction (LVEF) by multistage exercise stress, but showed bo abnormality of the regional wall motion. The congestive cardiomyopathy group showed markedly lower LVEF than those of the normal group at rest and a decreasing tendency by exercise stress. Abnormalities of the regional ventricular wall motion were not provoked by exercise stress. The hypertrophic cardiomyopathy group showed higher LVEF at rest than those of the normal group, but showed no more increases after the LVEF reached a certain plateau by increases of exercise. This group showed no abnormality of the regional ventricular wall motion. The hypertrophic obstructive cardiomyopathy group showed higher LVEF at rest than those of the normal group, but decreased LVEF by multistage exercise stress. (Chiba, N.)

  15. 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

  16. 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 ...

  17. Athletes’ Stress Cardiomyopathy

    OpenAIRE

    E. A. Gavrilova

    2012-01-01

    The article is focused on the examination of 1352 male athletes, engaged in different sports, actively training and participating in competitions. Stress cardiomyopathy was exposed in 14.8 % of cases. The article considers differential diagnostics of stress cardiomyopathy.

  18. Atlas of the clinical genetics of human dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Haas, Jan; Frese, Karen S; Peil, Barbara;

    2015-01-01

    AIM: Numerous genes are known to cause dilated cardiomyopathy (DCM). However, until now technological limitations have hindered elucidation of the contribution of all clinically relevant disease genes to DCM phenotypes in larger cohorts. We now utilized next-generation sequencing to overcome these......, leading to 99.1% coverage of the target region with at least 50-fold and a mean read depth of 2415. In this well characterized cohort, we find the highest number of known cardiomyopathy mutations in plakophilin-2, myosin-binding protein C-3, and desmoplakin. When we include yet unknown but predicted...... disease variants, we find titin, plakophilin-2, myosin-binding protein-C 3, desmoplakin, ryanodine receptor 2, desmocollin-2, desmoglein-2, and SCN5A variants among the most commonly mutated genes. The overlap between DCM, hypertrophic cardiomyopathy (HCM), and channelopathy causing mutations is...

  19. 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...

  20. Comparison of left and right ventricular ejection and filling parameters by fast cine MR imaging in breath-hold technique: clinical study of 42 patients with cardiomyopathy and coronary heart disease

    International Nuclear Information System (INIS)

    Purpose: Quantification of left and right ventricular filling and ejection of localized and diffuse heart diseases with fast cine MR imaging in breath-hold technique. Methods: 42 patients (14 idiopathic dilated cardiomyopathies (DCM), 13 hypertrophic cardiomyopathies (HCM) and 15 coronary artery diseases (CAD)) and 10 healthy volunteers were examined. Time-volume-curves of three left ventricular and one right ventricular slices were evaluated and peak ejection and filling rates (PER, PFR end-diastolic volume (EDV)/s) time to PER and PFR (TPER, TPFR ms) and time of end-systole (TSYS in % RR-intervall) were calculated. Results: There were significant regional and left-/right-sided differences of the filling and ejection of both ventricles within and between the different groups. In DCM the left ventricular PFR was reduced (DCM 3.1 EDV/s; volunteers 4.9 EDV/s) and Z-SYS prolonged (DCM 50.1%; volunteers 35.4%). In CAD there were localized decreased filling rates in comparison to the normal volunteer group (left ventricle: basal: 2.9 and 6.3 EDV/s, apical: 4.4 and 6.3 EDV/s; right ventricle: 3.6 and 5.7 EDV/s). HCM typically showed an isovolumetric lengthening of the endsystole. Conclusions: Cardiac MR imaging in breath-hold technique is suitable for measuring contraction and relaxation disturbances of localized and diffuse heart diseases by means of ejection and filling volume indices. (orig.)

  1. 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...

  2. 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)

  3. 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

  4. [Takotsubo cardiomyopathy: origin and variants].

    Science.gov (United States)

    Aronov, D M

    2008-01-01

    This literature review is devoted to the " tako-tsubo " cardiomyopathy - rare type of cardiomyopathy characterized by transient myocardial stunning. In acute phase the disease resembles myocardial infarction. However no involvement of coronary arteries is found at angiography. Echocardiography and ventriculography reveal a- or - hypokinesia of various parts of the left ventricle. Classic (initial) variant of the disease is associated with concomitant apical akinesia and hyperkinesis of basal segments. The heart acquires a distinctive configuration with ballooning apex which resembles device used to trap octopus. The author refers to described by him 11 cases of myocardial damage with infarct-like clinic without changes of coronary arteries in healthy men younger than 35 years (D.M.Aronow, 1968, 1974). These cases occurred during severe physical stress and had in their basis hypercatecholaminemia which led to reversible myocardial damage of the myocardium which corresponded to modern concept of myocardial stunning. During exercise tests these patients had 3 times greater increase of urinal epinephrine excretion compared with 61 patients of the same age with atherosclerotic heart disease. PMID:18991836

  5. 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

  6. Fibrose miocárdica em pacientes com cardiomiopatia hipertrófica com alto risco para morte súbita cardíaca Fibrosis miocárdica en pacientes con cardiomiopatía hipertrófica con alto riesgo para muerte súbita cardíaca Myocardial fibrosis in patients with hypertrophic cardiomyopathy and high risk for sudden death

    Directory of Open Access Journals (Sweden)

    Afonso Akio Shiozaki

    2010-04-01

    expresan la muerte súbita como primer síntoma. Trabajos recientes vienen sugiriendo que la fibrosis miocárdica puede constituirse en un importante sustrato para las arritmias ventriculares malignas, responsables de la muerte súbita en esta enfermedad. OBJETIVO: Evaluación de la prevalencia y cuantificación de la fibrosis miocárdica (FM, en pacientes con CMH con alto riesgo o recuperados de muerte súbita, portadores de cardiodesfibrilador implantable (CDI. MÉTODOS: Un total de 28 pacientes con CMH portadores de CDI fueron sometidos a la tomografía computadorizada con múltiples detectores, para la realización de la técnica de realce tardío, y evaluación de la fibrosis miocárdica. RESULTADOS: El 96% de los pacientes presentaba fibrosis miocárdica (20,38 ± 15,55 gramos y correspondía a 15,96 ± 10,20% de la masa miocárdica total. La FM fue significativamente más prevalente que los demás factores de riesgo clásicos para muerte súbita. CONCLUSIÓN: Concluimos que existe una alta prevalencia de fibrosis miocárdica en pacientes con cardiomiopatía hipertrófica de alto riesgo o recuperados de muerte súbita, como en este grupo - portadores de cardiodesfibrilador implantable. La mayor prevalencia de la fibrosis miocárdica comparada a los factores de riesgo de peor pronóstico levanta la hipótesis de que la fibrosis miocárdica pueda ser un importante sustrato potencialmente necesario en la génesis de las arritmias desencadenadoras de la muerte súbita.BACKGROUND: The stratification of risk for sudden death in hypertrophic cardiomyopathy (HCM continues to be a true challenge due to the great heterogeneity of this disease's presentation, as most individuals remain asymptomatic during their entire lives and others present sudden death as first symptom. Recent studies have suggested that myocardial fibrosis may represent an important substrate for the malignant ventricular arrhythmias, that are responsible for the cases of sudden death related to this

  7. 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....

  8. Inferior ST-Elevation Myocardial Infarction Associated with Takotsubo Cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Oliver Koeth

    2010-01-01

    Full Text Available Takotsubo cardiomyopathy (TCM is usually characterized by transient left ventricular apical ballooning. Due to the clinical symptoms which include chest pain, electrocardiographic changes, and elevated myocardial markers, Takotsubo cardiomyopathy is frequently mimicking ST-elevation myocardial infarction in the absence of a significant coronary artery disease. Otherwise an acute occlusion of the left anterior descending coronary artery can produce a typical Takotsubo contraction pattern. ST-elevation myocardial infarction (STEMI is frequently associated with emotional stress, but to date no cases of STEMI triggering TCM have been reported. We describe a case of a female patient with inferior ST-elevation myocardial infarction complicated by TCM.

  9. Update on hypertrophic scar treatment.

    Science.gov (United States)

    Rabello, Felipe Bettini; Souza, Cleyton Dias; Farina Júnior, Jayme Adriano

    2014-08-01

    Scar formation is a consequence of the wound healing process that occurs when body tissues are damaged by a physical injury. Hypertrophic scars and keloids are pathological scars resulting from abnormal responses to trauma and can be itchy and painful, causing serious functional and cosmetic disability. The current review will focus on the definition of hypertrophic scars, distinguishing them from keloids and on the various methods for treating hypertrophic scarring that have been described in the literature, including treatments with clearly proven efficiency and therapies with doubtful benefits. Numerous methods have been described for the treatment of abnormal scars, but to date, the optimal treatment method has not been established. This review will explore the differences between different types of nonsurgical management of hypertrophic scars, focusing on the indications, uses, mechanisms of action, associations and efficacies of the following therapies: silicone, pressure garments, onion extract, intralesional corticoid injections and bleomycin. PMID:25141117

  10. Update on hypertrophic scar treatment

    Directory of Open Access Journals (Sweden)

    Felipe Bettini Rabello

    2014-08-01

    Full Text Available Scar formation is a consequence of the wound healing process that occurs when body tissues are damaged by a physical injury. Hypertrophic scars and keloids are pathological scars resulting from abnormal responses to trauma and can be itchy and painful, causing serious functional and cosmetic disability. The current review will focus on the definition of hypertrophic scars, distinguishing them from keloids and on the various methods for treating hypertrophic scarring that have been described in the literature, including treatments with clearly proven efficiency and therapies with doubtful benefits. Numerous methods have been described for the treatment of abnormal scars, but to date, the optimal treatment method has not been established. This review will explore the differences between different types of nonsurgical management of hypertrophic scars, focusing on the indications, uses, mechanisms of action, associations and efficacies of the following therapies: silicone, pressure garments, onion extract, intralesional corticoid injections and bleomycin.

  11. Takotsubo cardiomyopathy precipitated by delirium tremens.

    Science.gov (United States)

    Agu, Chidozie Charles; Bakhit, Ahmed; Basunia, Md; Bhattarai, Bikash; Oke, Vikram; Salhan, Divya; Schmidt, Frances

    2015-01-01

    A 57-year-old woman presented with alcohol withdrawal symptoms, which later progressed to delirium tremens. During hospitalization, she developed respiratory distress with acute pulmonary edema. Electrocardiogram (ECG) showed diffuse ST elevation with elevated cardiac enzymes. Echocardiogram showed estimated ejection fraction of 20-25% with characteristic apical ballooning. After several days of supportive care, the patient showed significant clinical improvement with normalization of ECG, cardiac enzymes, and echocardiographic findings. Coronary angiogram revealed no coronary abnormalities. Although Takotsubo cardiomyopathy has been associated with diverse forms of physical or emotional stress, only a few cases have been described with delirium tremens in the medical literature. PMID:26653700

  12. Takotsubo cardiomyopathy precipitated by delirium tremens

    Directory of Open Access Journals (Sweden)

    Chidozie Charles Agu

    2015-12-01

    Full Text Available A 57-year-old woman presented with alcohol withdrawal symptoms, which later progressed to delirium tremens. During hospitalization, she developed respiratory distress with acute pulmonary edema. Electrocardiogram (ECG showed diffuse ST elevation with elevated cardiac enzymes. Echocardiogram showed estimated ejection fraction of 20–25% with characteristic apical ballooning. After several days of supportive care, the patient showed significant clinical improvement with normalization of ECG, cardiac enzymes, and echocardiographic findings. Coronary angiogram revealed no coronary abnormalities. Although Takotsubo cardiomyopathy has been associated with diverse forms of physical or emotional stress, only a few cases have been described with delirium tremens in the medical literature.

  13. Der plötzliche Tod 15- bis 35-Jähriger aufgrund hypertropher Kardiomyopathie im rechtsmedizinischen Obduktionsgut Berlin

    OpenAIRE

    Burdack, Diana

    2010-01-01

    As cause of the „sudden (cardiac-) death“ within younger dead (≤ 35 years), it is more and more the hypertrophic cardiomypathy, an autosomal-dominant transmitted group of disease, to be discussed as a reason of death. Responsible are mutations of at least eleven different genes, which lead to changes of the sarkomeres and therefore to cardiac dysfunction. The risk to die of a sudden cardiac death of all patients with hypertrophic cardiomyopathy is estimated at 1% per year [8, 13]. Most of the...

  14. 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

  15. 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.)

  16. Clinical characteristics of Takotsubo cardiomyopathy in North America

    OpenAIRE

    Saeed Ahmed; Patompong Ungprasert; Supawat Ratanapo; Tanveer Hussain; Riesenfeld, Erik P.

    2013-01-01

    Background: Takotsubo cardiomyopathy (TC) or transient left ventricular apical ballooning syndrome is an acute cardiac syndrome characterized by transient wall motion abnormalities extending beyond a single epicardial vessel in the absence of significant obstructive coronary artery disease. Aim: This study was to describe the clinical characteristics of TC in North America. Materials and Methods: We identified 10 patients who met the Mayo Clinic criteria for TC using our Electronic Medical Re...

  17. 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.

  18. EBCT in diagnosis on primary cardiomyopathy

    International Nuclear Information System (INIS)

    Objective: To evaluate the diagnostic value of electron beam CT (EBCT) in primary cardiomyopathy (PCM). Methods: EBCT including coronary scanning and heart movie study was performed in 15 patients. The diagnosis of PCM was established by clinical and imaging findings or/and pathologic examination. Results: BECT findings related to the classification of PCM drawn up by WHO/ISFC were as follows: (1) dilated PCM (8 cases): dilated left ventricle (LV) was found in 7 of 8 cases and dilated right ventricle (RV) in the remaining one. Hypokinetic contraction of the LV wall with (250 ± 101) ml LVEDV and (18.9 ±6.6)% LVEF presented in the patients with dilated LV. (2) Hypertrophic PCM (5 cases): Hypertrophic ventricular septum (16.5 ± 2.3) mm was demonstrated in all cases, hypertrophy of the LV wall or the apex in 3 of 5 cases, and stenosis of the LV outflow tract in 2 cases. (3) Restrictive PCM (2 cases): Thickening of endocardium with lower density than cardiac muscle, reduced RV, obliteration of apex, hypokinetic contraction of the RV wall, and dilatation of right atrium (RA) with parietal thrombus formation of RA was identified in one patient. Both the LV and the RV were involved, with enlargement of atrium. Conclusion: The findings of PCM on EBCT seem to reflect pathologic and functional changes of PCM, and may be useful for diagnosis and classification of PCM

  19. 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

  20. Nuclear cardiologic study of Takotsubo cardiomyopathy

    International Nuclear Information System (INIS)

    Transient left ventricular apical ballooning syndrome, also known as Takotsubo cardiomyopathy (T.T.C.) was described for the first time in Japan in the earliest nineties. It represents 1 to 2 % of acute cardiac events and mimics closely acute myocardial infarction. The aim of this study was to investigate 99 mTc- tetrofosmine or 201Thallium myocardial Single Photon Emission Computed Tomography (SPECT), 123I-meta-iodo-benzyl-guanidine (123I-mibg) myocardial SPECT and myocardial Positron Emission Tomography using 18F-fluorodeoxyglucose (18F-FDG) in patients with T.T.C., assessing respectively left ventricular perfusion, innervation and metabolism. We studied four patients (three females) with T.T.C.. We performed two weeks after acute phase (subacute phase) myocardial perfusion SPECT and 123I-mibg myocardial SPECT for each patient. Two of them underwent myocardial PET with FDG. Then, we assessed left ventricular innervation and metabolism three months (chronic phase I) and more than six months (chronic phase II) after the acute phase. We compared the discrepancies between radionuclides uptake in the left ventricular apical region during a follow-up period of more than six months. In subacute phase, perfusion SPECT was normal for each patient. Conversely, 123I-mibg SPECT and FDG-PET showed concordant apical uptake defect. This perfusion-metabolism pattern called 'inverse flow-metabolism mismatch' is the metabolic state of stunned myocardium. After three months, we found improvement of apical tracer uptake in both FDG-PET and 123I-mibg SPECT. These findings suggest that T.T.C. is characterized by myocardial apical stunning which is related to a disturbance of cardiac sympathetic innervation. 123I-mibg SPECT might be useful to diagnose earlier this pathology and to rule out acute myocardial infarction. (authors)

  1. Options interventionnelles en matière de traitement moderne de la cardiomyopathie hypertrophique obstructive

    OpenAIRE

    DULGUEROV, Filip; Radermecker, Marc; Legrand, Victor

    2011-01-01

    Obstructive hypertrophic cardiomyopathy is a complex pathology. The understanding of its physiopathology and, notably, of the SAM phenomenon (Systolic Anterior Motion), is crucial for all available treatments. Amongst the most efficient therapies, one can cite the septal myectomy and its most recent technical updates, as well as the alcohol septal ablation. The choice between these two methods depends on the general state of the patient, the thickness of the interventricular septum and the co...

  2. 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...

  3. Review of cardiomyopathy imaging

    International Nuclear Information System (INIS)

    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. Rapidly Progressing Chagas Cardiomyopathy.

    Science.gov (United States)

    Hollowed, John; McCullough, Matthew; Sanchez, Daniel; Traina, Mahmoud; Hernandez, Salvador; Murillo, Efrain

    2016-04-01

    Chagas disease, caused by the parasiteTrypanosoma cruzi, can cause a potentially life-threatening cardiomyopathy in approximately 10-40% of afflicted individuals. The decline in cardiac function characteristically progresses over the course of many years. We report a case of Chagas disease in which the patient experienced an atypical rapid deterioration to severe cardiomyopathy over the course of 16 months. This case argues the need for increased routine surveillance for patients with confirmedT. cruziinfection, who are determined to be at high-risk for worsening cardiomyopathy. PMID:26856912

  5. 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.

  6. Myocardial deformation pattern in left ventricular non-compaction: Comparison with dilated cardiomyopathy

    Directory of Open Access Journals (Sweden)

    Olivier Huttin

    2014-12-01

    Conclusions: Compared to DCM, LVNC presented with relatively preserved apical deformation as compared to basal segments. Lower regional deformation values in compacted segments confirm the concept that LVNC is a phenotypic marker of an underlying diffuse cardiomyopathy involving both C and NC myocardium.

  7. Basal hyperaemia is the primary abnormality of perfusion in Takotsubo cardiomyopathy

    DEFF Research Database (Denmark)

    Christensen, Thomas Emil; Ahtarovski, Kiril Aleksov; Bang, Lia Evi;

    2015-01-01

    AIMS: Takotsubo cardiomyopathy (TTC) is characterized by acute completely reversible regional left ventricle (LV) akinesia and decreased tracer uptake in the akinetic region on semi-quantitative perfusion imaging. The latter may be due to normoperfusion of the akinetic mid/apical area and basal...

  8. Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies

    Science.gov (United States)

    Tomasov, Pavol; Villard, Eric; Faludi, Reka; Melacini, Paola; Lossie, Janine; Lohmann, Nadine; Richard, Pascale; De Bortoli, Marzia; Angelini, Annalisa; Varga-Szemes, Akos; Sperling, Silke R.; Simor, Tamás; Veselka, Josef; Özcelik, Cemil; Charron, Philippe

    2016-01-01

    Introduction Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy. Material and methods We analyzed 389 patients, including cohorts of patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC). The 28 coding exons of the NEBL gene were sequenced. Further bioinformatic analysis was used to distinguish variants. Results In total, we identified six very rare heterozygous missense mutations in NEBL in 7 different patients (frequency 1.8%) in highly conserved codons. The mutations were not detectable in 320 Caucasian sex-matched unrelated individuals without cardiomyopathy and 192 Caucasian sex-matched blood donors without heart disease. Known cardiomyopathy genes were excluded in these patients. The mutations p.H171R and p.I652L were found in 2 HCM patients. Further, p.Q581R and p.S747L were detected in 2 DCM patients, while the mutation p.A175T was identified independently in two unrelated patients with DCM. One LVNC patient carried the mutation p.P916L. All HCM and DCM related mutations were located in the nebulin-like repeats, domains responsible for actin binding. Interestingly, the mutation associated with LVNC was located in the C-terminal serine-rich linker region. Conclusions Our data suggest that NEBL mutations may cause various cardiomyopathies. We herein describe the first NEBL mutations in HCM and LVNC. Our findings underline the notion that the cardiomyopathies are true allelic diseases.

  9. Bilateral Hypertrophic Olivary Degeneration in Wilson Disease

    OpenAIRE

    Otto, Josephin; Guenther, Peter; Hoffmann, Karl-Titus

    2013-01-01

    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...

  10. 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.

  11. 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

  12. 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

  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. Takotsubo cardiomyopathy following subarachnoid hemorrhage

    International Nuclear Information System (INIS)

    Takotsubo cardiomyopathy corresponds to a syndrome characterized by a transient myocardial dysfunction affecting the left ventricular apex that classically occurs after major physical or emotional stress (also called 'broken heart syndrome' or 'stress-induced cardiomyopathy'). The author describes the case of a patient with takotsubo cardiomyopathy induced by subarachnoid hemorrhage. (author)

  15. Exercise Rehabilitation in Pediatric Cardiomyopathy

    OpenAIRE

    Somarriba, Gabriel; Extein, Jason; Miller, Tracie L.

    2008-01-01

    Children with cardiomyopathy carry significant risk of morbidity and mortality. New research and technology have brought about significant advancements to the diagnosis and clinical management of children with cardiomyopathy. However, currently heart transplantation remains the standard of care for children with symptomatic and progressive cardiomyopathy. Cardiovascular rehabilitation programs have yielded success in improving cardiac function, overall physical activity, and quality of life i...

  16. Dilated cardiomyopathy following trastuzumab chemotherapy

    Directory of Open Access Journals (Sweden)

    Saurabh Karmakar

    2012-01-01

    Cardiotoxicity manifesting as dilated cardiomyopathy is a rarely reported adverse effect of trastuzumab. We hereby report a case of dilated cardiomyopathy, which occurred following trastuzumab chemotherapy in a 32-year-old female. The patient responded to discontinuation of trastuzumab and standard medical treatment. Extensive search of Indian literature revealed no reported case of dilated cardiomyopathy occurring due to trastuzumab.

  17. Responsiveness of cardiodynamics to exercise loading in normal subjects and in patients with idiopathic cardiomyopathy

    International Nuclear Information System (INIS)

    In the present study, we examined the responses of the left ventricular systolic function and diastolic function to exertion by cardiac blood pool scintigraphy using 99mTc in reference to changes with aging and changes in the cases of idiopathic cardiomyopathy. In order to study the functional response with aging to exertion, 38 normal subjects were divided by age. Subsequently, 28 hypertrophic cardiomyopathy cases (Group H), 13 dilated cardiomyopathy cases (Group D) and 14 normal cases (Group N) were studied. Ejection Fraction (EF) and Peak Ejection Rate (PER) were used as the indicators for the systolic function. Peak Filling Rate (PER), 1/3 Filling Rate (1/3FR) and Time to Peak Filling (TPF) were used as the indicators for the diastolic function. When comparison was made among the normal subjects by age, the systolic function and diastolic function at rest, varied as they were, showed no significant change with aging. The %delta EF and %delta PER tended to decrease linearly with aging (Y=-4E-X+28, p<0.0001; Y=-X+57, p<0.0001). As to the %delta PFR, %delta 1/3FR and %delta TPF, however, correlation with aging was not found. In comparing hypertrophic cardiomyopathy and dilated cardiomyopathy, Group D showed significantly lower values before exertion and after maximum exertion than the other two groups. A difference in the response of the systolic function and diastolic function to exertion was noted in both the comparative study on aging of the normal subjects and the study of cases of cardiomyopathy. The presence of the compensatory mechanism due to elevation of the left atrial pressure and an increase in the left atrial contractile power may be mentioned as a reservoir of blood and also as a booster pump. Particularly, the effect of the latter compensates for the decline in the left ventricular compliance, which may lead to the maintenance of the diastolic function. (K.H.)

  18. 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.)

  19. 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

  20. Takotsubo cardiomyopathy: diagnosis in an emergency department

    Directory of Open Access Journals (Sweden)

    Marina Mancini

    2014-06-01

    Full Text Available Takotsubo cardiomyopathy (TC is a reversible cardiomyopathy characterized by transient wall-motion abnormalities of the left ventricle (LV in the absence of significant obstructive coronary disease. In emergency departments the diagnosis remains a challenge because clinical and electrocardiographic presentation of Takotsubo is quite similar to ST-segment elevation myocardial infarction. We conducted a retrospective descriptive study on 1654 patients admitted to our emergency department from 2006 to 2009 who had a left heart catheterization for a suspected acute coronary syndrome and among them we evaluated characteristics on admission of 14 patients with a clinical picture suggestive for a TC. All patients were postmenopausal female. Ten patients (71% had preceding stressful events and four patients (29% did not have identifiable stressors. Thirteen patients (93% presented chest pain and one (7% syncope. ST-segment elevation was present in six patients (43%. One patient (7% presented an episode of ventricular fibrillation. All patients presented increased cardiac Troponin T. Initial LV ejection fraction, evaluated by transthoracic echocardiography was 44±10%. Follow-up LV ejection fraction was 61±10%. Six patients (43% had characteristic apical ballooning and eight patients (57% had hypokinesia or akinesia of the apical or/and midventricular region of the LV without ballooning. Coronary angiography was normal in nine patients (64% and five (36% had stenosis <50%. None had complete obstruction of a coronary. Takotsubo syndrome should be considered as a possible diagnosis in patients admitted in an emergency department with a suspected diagnosis of acute coronary syndrome. Emergency physicians should recognize salient aspects of the medical history at presentation in order to organize appropriate investigations and avoid inappropriate therapies.

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

    Science.gov (United States)

    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.

  2. Stress-induced cardiomyopathy (Takotsubo – broken heart and mind?

    Directory of Open Access Journals (Sweden)

    Redfors B

    2013-04-01

    Full Text Available Björn Redfors, Yangzhen Shao, Elmir Omerovic Department of Molecular and Clinical Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden Abstract: Stress-induced cardiomyopathy (SIC, also known as Takotsubo cardiomyopathy, is characterized by severe but potentially reversible regional left ventricular wall motion abnormalities, ie, akinesia, in the absence of explanatory angiographic evidence of a coronary occlusion. The typical pattern is that of an akinetic apex with preserved contractions in the base, but other variants are also common, including basal or midmyocardial akinesia with preserved apical function. The pathophysiology of SIC remains largely unknown but catecholamines are believed to play a pivotal role. The diverse array of triggering events that have been linked to SIC are arbitrarily categorized as either emotional or somatic stressors. These categories can be considered as different elements of a continuous spectrum, linked through the interface of neurology and psychiatry. This paper reviews our current knowledge of SIC, with focus on the intimate relationship between the brain and the heart. Keywords: stress-induced cardiomyopathy, takotsubo cardiomyopathy, catecholamine, cerebral injury, emotional stress, somatic stress

  3. Transient stress cardiomyopathies in the elderly: Clinical & Pathophysiologic considerations

    Institute of Scientific and Technical Information of China (English)

    Michael A Chen

    2012-01-01

    Transient stress-induced cardiomyopathies have been increasingly recognized and while rare,they tend to affect elderly women more than other demographic groups.One type,often called tako-tsubo cardiomyopathy (TTC),is typically triggered by significant emotional or physical stress and is associated with chest pain,electrocardiogram (ECG) changes and abnormal cardiac enzymes.Significant left ventricular regional wall motion abnormalities usually include an akinetic "ballooning" apex with normal or hyperdynamic function of the base.A second type,often called neurogenic stunned myocardium,typically associated with subarachnoid hemorrhage,also usually presents with ECG changes and positive enzymes,but the typical wall motion abnormalities seen include normal basal and apical left ventricular contraction with akinesis of the mid-cavity in a circumferential fashion.The pathophysiology,clinical care and typical courses,are reviewed.

  4. 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 ...

  5. 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)

  6. 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

  7. Hypertrophic Nonunion Humerus Mimicking an Enchondroma

    Directory of Open Access Journals (Sweden)

    N. K. Magu

    2014-01-01

    Full Text Available Introduction. Although fractures of humeral shaft show excellent results with conservative management, nonunion does occur. Case Report. We bring forth the case of a young male with a 1.5-year-old hypertrophic nonunion of the humerus mimicking an enchondroma. The initial X-ray images of the patient appeared to be an enchondroma, which only on further evaluation and histopathological analysis was diagnosed conclusively to be a hypertrophic nonunion. Discussion. Enchondromas are often incidentally diagnosed benign tumours. It is however not common to misdiagnose a hypertrophic nonunion to be an enchondroma. We present this case to highlight the unique diagnostic dilemma the treating team had to face.

  8. Assessment of myocardial damage in cardiomyopathy using 111In-antimyosin Fab myocardial scintigraphy

    International Nuclear Information System (INIS)

    111In-antimyosin Fab (AM) myocardial scintigraphy was carried out in (A) 10 patients with idiopathic dilated cardiomyopathy, (B) 7 with dilated phase of hypertrophic cardiomyopathy and (C) 8 with normal (control) individuals. Imaging was taken 48 hours after intravenous injection of 74 MBq of AM. Myocardial uptake of AM was evaluated qualitatively and quantitatively. Positive uptake was observed in 9/10 (90%), 7/7 (100%) and 0/8 (0%) in groups A, B and C, respectively. AM index (heart/lung ratio) in groups A and B were 2.04±0.24 and 2.46±0.49, Values significantly higher than that obtained in the control patient without cardiomyopathy (1.51±0.13)(p<0.01). Positive monoclonal antimyosin antibody studies were highly prevalent in dilated cardiomyopathic and dilated phase of hypertrophic cardiomyopathic patients, even in the presence of negative right ventricular biopsy. It is suggested that this method was useful for the noninvasive assessment of active myocardial damage in these patients. (author)

  9. Humoral immunity in cardiomyopathy.

    OpenAIRE

    Lowry, P J; Thompson, R. A.; Littler, W. A.

    1983-01-01

    Sera from patients with heart disease were examined by single sandwich indirect immunofluorescence for the presence of antibodies to human heart muscle. Endocardial biopsy specimens were also examined by direct immunofluorescence for deposition of antibodies in vivo. No consistent or specific abnormality was found in the biopsy specimens or sera of patients with congestive cardiomyopathy. The presence of anti-heart antibodies in cardiac disease appears to reflect damage to cardiac muscle what...

  10. 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.

  11. 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

  12. 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

  13. Myocardial imaging with radioiodinated beta-methyl-branched fatty acid in cardiomyopathy

    International Nuclear Information System (INIS)

    The purpose of our experimental and clinical studies was to examine whether myocardial distribution of beta-methyl iodophenyl pentadecanoic acid (BMIPP) is different from that of thallium in cardiomyopathic hamsters and how single photon emission computed tomography (SPECT) delineate the different between thallium and BMIPP distributions in patients with cardiomyopathy. Quantitative dual tracer autoradiography demonstrated an uncoupling of myocardial thallium and [I-125]BMIPP distributions as well as a regional heterogeneity of [I-125]BMIPP distribution in cardiomyopathic hamsters. In patients with septal or apical hypertrophy and normal contractility, SPECT showed reduced [I-123]BMIPP uptake in the thickened myocardium with normal or high thallium uptake. In patients with hypertrophy and systolic dysfunction as well as those with dilated cardiomyopathy, SPECT with thallium and [I-123]BMIPP showed similar heterogeneous distributions. In conclusion, SPECT with [I-123]BMIPP may provide unique features different from thallium imaging and may delineate regional abnormalities of myocardial fatty acid metabolism in cardiomyopathy. (author)

  14. Takotsubo cardiomyopathy and acute infectious diseases: a mini-review of case reports.

    Science.gov (United States)

    De Giorgi, Alfredo; Fabbian, Fabio; Pala, Marco; Parisi, Claudia; Misurati, Elisa; Molino, Christian; Boccafogli, Arrigo; Tiseo, Ruana; Gamberini, Susanna; Salmi, Raffaella; Portaluppi, Francesco; Manfredini, Roberto

    2015-03-01

    Takotsubo cardiomyopathy (TTC), also defined as "stress cardiomyopathy," is characterized by a systolic dysfunction localized in the apical and medial left ventricles. Takotsubo cardiomyopathy is more prevalent in females and it is usually related to an event triggered by physical or emotional stress. We systematically explored PubMed and Embase medical information source to identify case reports showing association between infection and TTC. For each kind of infection, we collected a set of data, including pathogen, site of infection, clinical outcome, patient age and sex, and author and year of publication. We found 26 articles dealing with 27 case reports (74% women). The mean age was 61.4 ± 13.7 years and bacterial infections were more frequent (n = 23, 85.2%). In 14 cases, there was a culture-based definition of the bacterial strain: gram+ in 8 cases (57.1%) and gram- in 6 cases (42.9%). Clinical outcome was always favorable. PMID:24576981

  15. Takotsubo cardiomyopathy: an overlooked cause of chest pain

    Directory of Open Access Journals (Sweden)

    Leonardo Hackbart Bermudes

    2014-06-01

    Full Text Available Takotsubo cardiomyopathy (TTC, also known as apical ballooning syndrome, broken heart syndrome, or stress-induced cardiomyopathy, is defined as a transient disturbance of the left ventricle, which is quite often associated with electrocardiographic abnormalities that may mimic acute myocardial infarction. The syndrome is also characterized by a mild alteration of cardiac biomarkers in absence of coronary blood flow obstruction on the coronariography. Clinical presentation is often manifested by angina, dyspnea, syncope, and arrhythmias. Peculiarly, the left ventricle takes the form of “tako-tsubo” (a Japanese word for “octopus trap” on the imaging workup. The authors report the case of a post-menopausal, hypertensive, dyslipidemic and type-II diabetic woman admitted at the emergency service with acute chest pain post physical exertion. Electrocardiogram showed signs of ischemia and myocardial necrosis markers were mildly increased. Echocardiography and ventriculography showed apical and mid-ventricular akinesia, with mild atherosclerotic coronary lesions. Thus diagnostic workup and the outcome followed the diagnostic criteria for TTC. The authors called attention to the potential of overlooking this diagnosis, since this syndrome is still not widely recognized.

  16. Takotsubo cardiomyopathy in two men receiving bevacizumab for metastatic cancer

    Directory of Open Access Journals (Sweden)

    Thérèse H Franco

    2008-10-01

    Full Text Available Thérèse H Franco, Ahmed Khan, Vishal Joshi, Beje ThomasDepartment of Internal Medicine, University of Connecticut, Farmington, CT, USAAbstract: Bevacizumab is a monoclonal antibody that inhibits vascular endothelial growth factor (VEGF. It is a novel chemotherapeutic agent currently approved as part of combination chemotherapy for metastatic colorectal cancer, non-small cell lung cancer, and breast cancer (Hurwitz et al 2004; Sandler et al 2006; Traina et al 2007. Arterial thrombosis, including cerebral infarction, transient ischemic attacks, myocardial infarction, and angina are common, occurring in 4.4% of patients whose regimen includes bevacizumab (versus 1.9% on regimen without bevacizumab (Genetech, Inc. 2008. This series will review two cases of patients exposed to bevacizumab who subsequently developed ST elevations on electrocardiogram (ECG and elevated cardiac biomarkers. Both patients underwent cardiac catheterization, which demonstrated apical ballooning and akinesis in a distribution discordant with the observed (noncritical atherosclerotic lesions. Both patients had recovery of left ventricular function within 30 days. The clinical presentation, including ECGs and findings on catheterization as well as the rapid recovery of ventricular function, is consistent with the diagnosis of takotsubo cardiomyopathy. Takotsubo cardiomyopathy was first described in 1991, but the pathophysiology and exact mechanism of injury remain largely unknown. These two cases are notable for their occurrence in men and the association with treatment of metastatic cancer including bevacizumab.Keywords: vascular endothelial growth factor, bevacizumab, metastatic cancer, chemotherapy, takotsubo, cardiomyopathy

  17. Takotsubo Cardiomyopathy in the Setting of Tension Pneumothorax.

    Science.gov (United States)

    Gale, Michael; Loarte, Pablo; Mirrer, Brooks; Mallet, Thierry; Salciccioli, Louis; Petrie, Alison; Cohen, Ronny

    2015-01-01

    Background. Takotsubo cardiomyopathy is defined as a transient left ventricular dysfunction, usually accompanied by electrocardiographic changes. The literature documents only two other cases of Takotsubo cardiomyopathy in the latter setting. Methods. A 78-year-old female presented to the ED with severe shortness of breath, hypertension, and tachycardia. On physical exam, heart sounds (S1 and S2) were regular and wheezing was noticed bilaterally. We found laboratory results with a WBC of 20.0 (103/μL), troponin of 16.52 ng/mL, CK-mb of 70.6%, and BNP of 177 pg/mL. The patient was intubated for acute hypoxemic respiratory failure. A chest X-ray revealed a large left-sided tension pneumothorax. Initial echocardiogram showed apical ballooning with a LVEF of 10-15%. A cardiac angiography revealed normal coronary arteries with no coronary disease. After supportive treatment, the patient's condition improved with a subsequent echocardiogram showing a LVEF of 60%. Conclusion. The patient was found to have Takotsubo cardiomyopathy in the setting of a tension pneumothorax. The exact mechanisms of ventricular dysfunction have not been clarified. However, multivessel coronary spasm or catecholamine cardiotoxicity has been suggested to have a causative role. We suggest that, in our patient, left ventricular dysfunction was induced by the latter mechanism related to the stress associated with acute pneumothorax. PMID:26366307

  18. 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

  19. 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.

  20. Assessment of takotsubo (ampulla) cardiomyopathy using iodine-123 metaiodobenzylguanidine scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Pessoa, Pinheiro M.C.; Xavier, Salles S.; Lima, Souza Leao R.; Mansur, J.; Almeida, Altino S. de; Carvalho, Pires A.C.; Gutfilen, B.; Fonseca, Barbosa L.M. da [Hospital Univ. Clementino Fraga Filho, Univ. Federal do Rio de Janeiro (Brazil). Dept. de Radiologia

    2006-12-15

    Purpose: To evaluate the role of cardiac sympathetic innervation in patients whose clinical features consisted of chest pain, transient ST-segment elevation, left ventricular apical akinesis, minimal elevation of cardiac enzymes, and onset of symptoms shortly after a severe stress condition. Material and Methods: Five female patients, mean age 67{+-}14 years, underwent thoracic {sup 123}I-MIBG (planar and SPECT) and 67Ga citrate (planar) scans within 5 days after the onset of symptoms. The {sup 123}I-MIBG myocardial washout rate between early (30 min) and delayed (3 hours) planar images was calculated. All patients presented findings consistent with takotsubo-like syndrome. Echocardiograms showed the characteristic wall motion pattern of significant apical dysfunction. Acute-phase coronary angiographies revealed a non-obstructive pattern. A peculiar apical akinesis and basal normokinesis were observed on the ventriculograms. Results: Impairment of cardiac neuronal uptake of {sup 123}I-MIBG based on a reduction of the heart-to-mediastinum uptake ratio was observed in all patients, while the washout rate was raised in four patients. All patients presented an apical uptake defect in the {sup 123}I-MIBG SPECT and planar images and a normal 67Ga scintigraphy. Conclusion: Our data indicate that ampulla cardiomyopathy (AC) is associated with a cardiac sympathetic innervation deficit characterized by a reduced global {sup 123}I-MIBG uptake and an apical uptake defect. The lack of 67Ga uptake in the acute phase of this syndrome indicates that AC is probably not associated with an inflammatory process.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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

  6. New insights into cirrhotic cardiomyopathy

    DEFF Research Database (Denmark)

    Møller, Søren; Hove, Jens D; Dixen, Ulrik;

    2013-01-01

    beta-receptor function seem involved in the autonomic and cardiac dysfunction. Cirrhotic cardiomyopathy can be revealed by tissue Doppler imaging but is best demasked by physical or pharmacological stress. Liver transplantation may revert cardiac dysfunction but surgery and shunt insertion may also......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 reduced...

  7. 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.)

  8. 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 ...

  9. 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

  10. Abnormal myocardial fatty acid metabolism in dilated cardiomyopathy detected by iodine-123 phenylpentadecanoic acid and tomographic imaging

    International Nuclear Information System (INIS)

    The radioidinated synthetic fatty acid iodine-123 phenylpentadecanoic acid (IPPA) has proven useful in the identification of regional abnormalities of cardiac metabolism in patients with myocardial ischemia. The present study was performed to test the hypothesis that the myocardial distribution and turnover of fatty acids, assessed noninvasively with IPPA, are altered in patients with cardiomyopathy. Nine normal volunteers and 19 patients with dilated cardiomyopathy of various etiologies underwent cardiac imaging with single-photon emission computed tomography (SPECT) after intravenous injection of IPPA. Apical short-axis and basal short-axis sections were reconstructed and quantitatively analyzed for relative IPPA activity distribution and washout. Patients with congestive cardiomyopathy demonstrated significantly greater heterogeneity of IPPA uptake than normal subjects (maximal percent variation of activity 27 +/- 11 vs 18 +/- 4, p less than 0.01). They also demonstrated a more rapid percent washout rate than control subjects (24 +/- 8 vs 17 +/- 6 for the apical short-axis section, p less than 0.05; 26 +/- 7 vs 18 +/- 5 for the basal short-axis section, p less than 0.01). These abnormalities of fatty acid distribution and turnover were independent of the etiology of the cardiomyopathy. The degree of heterogeneity of IPPA uptake was significantly related to the patients' New York Heart Association functional class (r = 0.64, p less than 0.01). Thus, compared with normal myocardium, the myocardium of patients with congestive cardiomyopathy demonstrates a more heterogeneous distribution of fatty acid uptake, which parallels the clinical severity of the disease. Furthermore, patients with congestive cardiomyopathy demonstrate a more rapid myocardial clearance of the labeled fatty acid, as assessed with SPECT imaging

  11. Pelvic Floor Support Defect in Apical Anterior Vaginal Prolapse with Cervical Hypertrophy. Review with Case Report in a 20-year-old Cadaver.

    Science.gov (United States)

    Chhetri, Kalpana

    2015-10-01

    Apical anterior vaginal wall prolapse (AVWP) with central defect is uncommon in young non hysterectomized patients causing considerable mortality after the fourth decade of life. Its high propensity to recurrence poses the greatest challenge to pelvic reconstructive surgeons. Approximately 40% of women with prolapse have hypertrophic cervical elongation and the extent of elongation increases with greater degrees of prolapse. Women with prolapse either have inherent hypertrophic elongation of the cervix which predisposes them to prolapse or the downward traction in prolapse leads to cervical elongation. The Pelvic Organ Prolapse Quantification (POP-Q) examination includes measurement of the location of the posterior fornix (point D) with the assumption that this measurement is associated with cervical elongation. Multifocal site involvement with apical and perineal descent primarily afflicts elderly, postmenopausal women after the fourth decade while cervical hypertrophic elongation with prolapse is observed in younger women less than 40 years of age. A review of the anatomical implication of the association of cervical hypertrophy in prolapse is carried out in this article. We observed a combination of distension type anterior vaginal prolapse with apical descent and cervical hypertrophy in a 20-year-old cadaver during routine dissection for undergraduate medical students at Sikkim Manipal Institute of Medical Sciences in 2013. Distension type anterior vaginal prolapse with central defect is rarer as most reported cases are of the displacement type, paravaginal defect. Hypertrophic cervical elongation is either the cause or consequence of prolapse and its identification before reconstructive surgery is paramount as uterine suspension in the face of cervical elongation is contraindicated. Inappropriate identification of all support defects and breaking of tissues is the primary cause of failure of laparoscopic pelvic reconstructive surgery. PMID:26557506

  12. Three-Dimensional Endo-Cardiovascular Volume-Rendered Cine Computed Tomography of Isolated Left Ventricular Apical Hypoplasia: A Case Report and Literature Review.

    Science.gov (United States)

    Hong, Sun Hwa; Kim, Yang Min; Lee, Hyun Jong

    2016-01-01

    We report multidetector computed tomography (MDCT) and cardiac magnetic resonance (CMR) findings of a 34-year-old female with isolated left ventricular apical hypoplasia. The MDCT and CMR scans displayed a spherical left ventricle (LV) with extensive fatty infiltration within the myocardium at the apex, interventricular septum and inferior wall, anteroapical origin of the papillary muscle, right ventricle wrapping around the deficient LV apex, and impaired systolic function. MDCT visualized morphologic and also functional findings of this unique cardiomyopathy. PMID:26798219

  13. Comparison of wall thickening and perfusion analysis in cardiomyopathy by gated Tc-99m MIBI

    International Nuclear Information System (INIS)

    The objective of this study was to clarify the relationship between left ventriculr (LV) function, wall thickening (WT) and perfusion in cardiomyopathy. Twenty-six cases (15 males, 11 females: mean age, 58 y), consisting of 10 healthy control subjects, 10 patients with hypertrophic cardiomyopathy (HCM) and 6 patients with idiopathic dilated cardiomyopathy (DCM) was studied with gated Tc-99m MIBI SPECT. LV WT, LV perfusion and function (LV wall motion, LVEDV, LVESV and LVEF) by using gated SPECT quantification and CEqual software were analysed. In HCM and DCM group, mean WT was significantly decreased. (HCM: 15.2±6.7%, DCM: 4.9%, control: 34.1±4.9% (p<0.01). Adenosine stress test didn't show any reversible or fixed perfusion defects in all HCM patients, controls and five DCM patients except one patient (but, no coronary artery stenosis in coronary angiography). LVEF for HCM, DCM and control was 48.4±13.2%, 28.7±8.8%, 62.7±9.5%, respectively (p<0.05)). LVEDV and LVESV didn't show a significant differences between HCM and control group, not DCM group. In HCM, WT was decreased as like DCM even though LV myocardial perfusion and function was reserved

  14. Evaluation of regional myocardial perfusion in patients with cardiomyopathy using dipyridamole thallium-201 emission computed tomography

    International Nuclear Information System (INIS)

    Myocardial emission computed tomography with thallium-201 was performed immediately and at 3 hr after iv infusion of dipyridamole in 20 patients with nonobstructive hypertrophic cardiomyopathy (HNCM) and 20 patients with dilated cardiomyopathy (DCM). The results were compared with findings of two-dimensional echocardiography and pathological findings. In the HNCM group, early Tl-201 imaging did not show perfusion defects in 9 patients (Group I), but showed them in 11 patients (Group II). Redistribution (Rd) was seen on delayed Tl-201 images in all of the HNCM group. Although percent fractional shortening of the septal and posterior walls was significantly reduced in Group II when compared with Group I, there was no difference in echocardiographic findings between the Groups. Percent fibrosis was significantly higher in Group II than Group I. All patients of the DCM group showed Tl-201 perfusion defects on early images, 9 of whom had Rd on delayed images. Percent fractional shortening was significantly elevated in patients with Rd than those without Rd. Ventricular wall motion abnormality was slight in the area with Rd, as compared with that without Rd. Percent fibrosis of the septal wall was higher in the presence of Rd than in the absence of Rd. The results indicate reduced coronary flow reverse in some of the cardiomyopathy patients. The reduced coronary reverse may be attributable to the mechanism involved in the fibrosis and be related to pathophysiologic progression. (Namekawa, K.)

  15. 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.

  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. 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.

  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. 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...

  20. 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