The Role of Genetics in Cardiomyopathy

Cardiomyopathies are a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction that usually exhibit inappropriate ventricular hypertrophy or dilation and are due to a variety of causes that frequently are genetic. Hypertrophic cardiomyopathy (HCM) is generally transmitted as an autosomal dominant trait, mainly caused by mutations in genes encoding cardiac sarcomere proteins. Dilated cardiomyopathy (DCM) is the most common cause of pediatric cardiomyopathy, associated with over 50% of pediatric cardiomyopathy, and 25–30% have an identifiable familial component. Left ventricular noncompaction (LVNC) is a cardiomyopathy characterized by excessive reticulated trabecular wall formation, where children account for 9.5% of all patients. Restricted cardiomyopathy (RCM) is a rare form of pediatric cardiomyopathy with an incidence estimated at 4.5%. Recent progress has provided us novel insights in the field of cardiovascular genetics and in our understanding of the genetic basis of various cardiomyopathies. Increasing numbers in identification and validation of genetic markers of disease risk, disease progression, and response to therapy would eventually improve outcomes and genetic counseling for patients and their families.