The genetics of hypertrophic cardiomyopathy.

ABSTRACT: Hypertrophic cardiomyopathy (HCM) is most commonly transmitted as an autosomal dominant trait, caused by mutations in genes encoding cardiac sarcomere proteins^1-3. Other inheritable causes of the disease include mutations in genes coding for proteins important in calcium handling or that form part of the cytoskeleton^4-6. At present, the primary clinical role of genetic testing in HCM is to facilitate familial screening to allow the identification of individuals at risk of developing the disease^7,8. It is also used to diagnose genocopies, such as lysosomal^9-11 and glycogen storage disease which have different treatment strategies, rates of disease progression and prognosis^12-14. The role of genetic testing in predicting prognosis is lim

SUBMITTER: Akhtar M 

PROVIDER: S-EPMC6209452 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature