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[Progresses in molecular genetic study of heterotaxy with congenital heart disease]

P Li1, G Y Huang1

  • 1Department of Cardiology, Children's Hospital of Fudan University, Shanghai Key Laboratory of Birth Defects, Shanghai 201102, China.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics
|December 1, 2020
PubMed
Abstract

No abstract available in PubMed .

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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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