Dilated cardiomyopathy: genetic determinants and mechanisms

Abstract

Nonischemic dilated cardiomyopathy often has a genetic etiology. Because of the large number of genes and alleles attributed to dilated cardiomyopathy, comprehensive genetic testing encompasses ever-increasing gene panels. Genetic diagnosis can help predict prognosis, especially with regard to arrhythmia risk for certain subtypes. Moreover, cascade genetic testing in family members can identify those who are at-risk or with early stage disease, offering the opportunity for early intervention. This review will address diagnosis and management of dilated cardiomyopathy, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to dilated cardiomyopathy and their pathogenetic mechanisms. Historically, cardiac morphology has been used to classify cardiomyopathy subtypes. Determining genetic variants is emerging as an additional adjunct to help further refine subtypes of dilated cardiomyopathy, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.