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Genetic Basis of Cardiomyopathy

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Genetic Basis of Cardiomyopathy

The genetic basis of cardiomyopathy is being studied substantially. Cardiomyopathies with known genetic cause include hypertrophic (HCM), dilated (DCM), restrictive (RCM), arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and left ventricular noncompaction (LVNC). HCM, DCM, and RCM have been recognized as distinct clinical entities for decades, whereas ARVD/C and LVNC are relatively new to the field. HCM is understood largely to be a genetic disease of contractile proteins, although less commonly, infiltrative etiologies may also be causative. The evidence supporting a genetic basis for DCM is now substantial for familial dilated cardiomyopathy (FDC), where FDC is defined as DCM of unknown cause in 2 or more closely related family members.

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