Dilated cardiomyopathy (DCM) is a myocardium disease characterized by left ventricular dilation and systolic dysfunction. Genetic susceptibility contributes significantly to the disease progression in familial DCM. Mutations in more than fifty different genes have been identified to cause DCM, accounting for up to 50% of familial DCM cases. Elucidation of genetic basis for the remaining familial DCM probands promises to substantially increase the efficiency of genetic testing for early disease diagnosis and intervention. Dissecting genetic pathways linked to DCM and related pathogenic mechanisms can provide valuable insights into the understanding of disease pathophysiology that can be leveraged for development of genotype-targeted therapeutic strategy. Here, we review genetic variants, with a focus on affected genes most commonly implicated in DCM, and highlight their underlying pathophysiological mechanisms of action. We discuss recent progress on gene-based therapeutic strategy which holds the opportunities to implement individualized medicine and ultimately to improve patient outcome in the future.
Part of the book: Cardiac Diseases