Abstract
Primary myocardial diseases, or cardiomyopathies, affect millions of individuals worldwide. Although there are sizable environmental contributors to the etiology of these diseases, many cardiomyopathies have a high degree of heritability and, thus, genetic aspects of diagnosis and therapy warrant special consideration. The past two decades have seen enormous progress in elucidating the epidemiology, genetic architecture, and pathophysiology of these diseases. In this review, we focus on translating advances in the genetics of cardiomyopathies to clinical care. We discuss the underlying genetic and phenotypic complexity of these disorders, highlighting the implications for diagnosis, treatment, screening, and prognosis of patients and their family members.
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