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Identification of a mutation causing hypertrophic cardiomyopathy using whole exome sequencing: A proof-of-concept

Hiroyuki Morita1

  • 1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.

Journal of Cardiology
|November 8, 2015
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Clinical sequencingHypertrophic cardiomyopathyMutationWhole exome sequencing

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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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