Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study
Background: Hypertrophic cardiomyopathy (HCM) is a genetic disorder with the prevalence of 1 in 500 globally. HCM is clinically characterized by thickening of the wall of the heart, predominantly left ventricle (LV), and interventricular septum (IVS). Our study aims to report the demographical, clin...
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doaj-f99db9dbe442443fabd48973dc968ca92020-11-24T23:39:15ZengWolters Kluwer Medknow PublicationsJournal of the Practice of Cardiovascular Sciences2395-54142454-28302015-01-011214314910.4103/2395-5414.166323Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H studyAmitabh BiswasSoumi DasMitali KapoorSandeep SethBalram BhargavaVadlamudi Raghavendra RaoBackground: Hypertrophic cardiomyopathy (HCM) is a genetic disorder with the prevalence of 1 in 500 globally. HCM is clinically characterized by thickening of the wall of the heart, predominantly left ventricle (LV), and interventricular septum (IVS). Our study aims to report the demographical, clinical and genetic profile of Indian HCM patients. Methods: HCM patients were recruited on the basis of WHO criteria. The clinical phenotypes were analyzed using electrocardiography, two-dimensional electrocardiography, and hotspot region of the MYH7 gene was sequenced for all patients as well as for controls. Results: There were 59 patients with a clinical diagnosis of HCM with a preponderance of disease in males with a ratio (men, women) of 5.5:1. Average age of onset of the disease was late 30 s (39.2 ± 14.5) with familial HCM accounting for 18% (n = 9) for total HCM families (n = 50). Nonobstructive kind of HCM was more prevalent as compared to obstructive HCM (66.1% vs. 33.9%). Average posterior wall LV thickness of the HCM patients was 16 ± 4.8 mm and IVS thickness was 21 ± 8.3 mm with familial patients having greater wall thickness as compared to sporadic patients. Sequencing of hotspot region of MYH7 identified three mutations in three different patients. Two mutations were found to be segregating in familial cases. Conclusion: HCM is more prevalent in males with a predominance of hypertrophic nonobstructive cardiomyopathy form. Eighteen percent of cases were familial and showed an early onset of the disease and worse prognosis as compared to sporadic cases. Hotspot sequencing of MYH7 only explains 6% of its genetic basis. More of the candidate genes need to be screened through advanced techniques like next generation sequencing to identify the causal genes which could make us understand the mechanistic pathways.http://www.j-pcs.org/article.asp?issn=2395-5414;year=2015;volume=1;issue=2;spage=143;epage=149;aulast=BiswasFamilialgeneticshypertrophic cardiomyopathysporadic |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Amitabh Biswas Soumi Das Mitali Kapoor Sandeep Seth Balram Bhargava Vadlamudi Raghavendra Rao |
spellingShingle |
Amitabh Biswas Soumi Das Mitali Kapoor Sandeep Seth Balram Bhargava Vadlamudi Raghavendra Rao Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study Journal of the Practice of Cardiovascular Sciences Familial genetics hypertrophic cardiomyopathy sporadic |
author_facet |
Amitabh Biswas Soumi Das Mitali Kapoor Sandeep Seth Balram Bhargava Vadlamudi Raghavendra Rao |
author_sort |
Amitabh Biswas |
title |
Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study |
title_short |
Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study |
title_full |
Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study |
title_fullStr |
Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study |
title_full_unstemmed |
Epidemiology of cardiomyopathy - A clinical and genetic study of hypertrophic cardiomyopathy: The EPOCH-H study |
title_sort |
epidemiology of cardiomyopathy - a clinical and genetic study of hypertrophic cardiomyopathy: the epoch-h study |
publisher |
Wolters Kluwer Medknow Publications |
series |
Journal of the Practice of Cardiovascular Sciences |
issn |
2395-5414 2454-2830 |
publishDate |
2015-01-01 |
description |
Background: Hypertrophic cardiomyopathy (HCM) is a genetic disorder with the prevalence of 1 in 500 globally. HCM is clinically characterized by thickening of the wall of the heart, predominantly left ventricle (LV), and interventricular septum (IVS). Our study aims to report the demographical, clinical and genetic profile of Indian HCM patients. Methods: HCM patients were recruited on the basis of WHO criteria. The clinical phenotypes were analyzed using electrocardiography, two-dimensional electrocardiography, and hotspot region of the MYH7 gene was sequenced for all patients as well as for controls. Results: There were 59 patients with a clinical diagnosis of HCM with a preponderance of disease in males with a ratio (men, women) of 5.5:1. Average age of onset of the disease was late 30 s (39.2 ± 14.5) with familial HCM accounting for 18% (n = 9) for total HCM families (n = 50). Nonobstructive kind of HCM was more prevalent as compared to obstructive HCM (66.1% vs. 33.9%). Average posterior wall LV thickness of the HCM patients was 16 ± 4.8 mm and IVS thickness was 21 ± 8.3 mm with familial patients having greater wall thickness as compared to sporadic patients. Sequencing of hotspot region of MYH7 identified three mutations in three different patients. Two mutations were found to be segregating in familial cases. Conclusion: HCM is more prevalent in males with a predominance of hypertrophic nonobstructive cardiomyopathy form. Eighteen percent of cases were familial and showed an early onset of the disease and worse prognosis as compared to sporadic cases. Hotspot sequencing of MYH7 only explains 6% of its genetic basis. More of the candidate genes need to be screened through advanced techniques like next generation sequencing to identify the causal genes which could make us understand the mechanistic pathways. |
topic |
Familial genetics hypertrophic cardiomyopathy sporadic |
url |
http://www.j-pcs.org/article.asp?issn=2395-5414;year=2015;volume=1;issue=2;spage=143;epage=149;aulast=Biswas |
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