Dilated Cardiomyopathy
Year: 2017
Type: review
Abstract: Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of the large number of genes and alleles attributed to DCM, 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 DCM, including the role of genetic evaluation. We will also overview distinct genetic pathways linked to DCM 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 DCM, especially where arrhythmia risk is increased, and ultimately contribute to clinical management.
Source: Circulation Research
Authors: Elizabeth M. McNally, Luisa Mestroni
Institutions: Northwestern University, University of Colorado Anschutz
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
Awards: Mechanisms of sulfonylurea receptor mediated cardiomyopathy, Genetics, Mechanisms and Clinical Phenotypes of Arrhythmogenic Cardiomyopathy, Northwestern University Clinical and Translational Science Institute (NUCATS), Cardiomyocyte phenotype and mechanotransduction in Filamin C gene variants causing arrhythmogenic cardiomyopathy, Cardiomyopathy Genomes Project, Colorado Clinical and Translational Sciences Institute, Sarcoglycan in Myopathy and Muscle Membrane Stability, Molecular Epidemiology of Dilated Cardiomyopath
OpenAlex ID: W2755193453