Abstract
Dilated cardiomyopathy (DCM) is characterized by dilated ventricles and systolic dysfunction. Its etiology is not fully unraveled, but both extrinsic and intrinsic factors are considered to be involved. The intrinsic factors include genetic variations in the genes (ie, disease-causing mutations and disease-associated polymorphisms), which play key roles in controlling the susceptibility to the disease by affecting the performance, regulation, and/or maintenance of cardiac function. DCM can be classified into 2 types: hereditary and non-hereditary. The genetic variations, or disease-causing mutations, contributing to the pathogenesis of hereditary DCM can be found in various genes, especially those for sarcolemma elements, contractile elements, Z-disc elements, sarcoplasmic elements, and nuclear lamina elements of cardiomyocytes. On the other hand, disease-associated polymorphisms, which control the susceptibility to non-hereditary DCM, may be found in genes expressing not only in cardiomyocytes but also other non-cardiac cells involved in the immune system. Because functional alterations caused by these genetic variations can be classified into several categories, it is necessary to understand the pathogenesis and hence to develop diagnostic and therapeutic strategies for both hereditary and non-hereditary DCM from the viewpoint of genetic factors.
