MYH7 and MyBPC3 Gene Mutations Associated with Hypertrophic Cardiomyopathy: A Short Review
Keywords:
Hypertrophic Cardiomyopathy, HCM, MYH7, MyBPC3.Abstract
Hypertrophic cardiomyopathy (HCM) is a primary genetic disorder of the myocardium caused by mutations in sarcomeric proteins. It is typically hereditary, is the leading cause of sudden cardiac mortality in young people. Genetic screening for those at risk is now possible due to the discovery of mutations in several contractile protein genes that cause familial hypertrophic cardiomyopathy. Mutations in the cardiac myosin-binding protein C gene frequently do not manifest clinically until middle or advanced age. It has been suggested that HCM is a disease of contractile sarcomeric proteins since patients with the condition have been shown to have more than 100 mutations in nine genes that encode sarcomeric proteins. Among these, MYH7 and MyBPC3 genes are the most frequently implicated, accounting for over 50% of HCM cases worldwide. This review summarizes the genetic basis of HCM with a focus on MYH7 and MyBPC3 mutations, emphasizing their prevalence and clinical significance in the Vidarbha region of Maharashtra, India. The paper highlights the challenges and future prospects of genetic diagnostics in this population.
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