Cited by 791Cardiomyopathy and Myosin StudiesCardiac electrophysiology and arrhythmiasCardiovascular Effects of Exercise

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Dilated Cardiomyopathy: Genetic Determinants and Mechanisms

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McNally, Elizabeth M., Mestroni, Luisa·2017·Circulation Research

DOI 10.1161/circresaha.116.309396PMC PMC5626020

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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.

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10.1172/JCI19670 · DOI
MacRae C, Taylor MRG, Mestroni L, Moses JR, Ashley EA, Wheeler MT, Lakdawala NK, Hershberger RE, Ptaszynski M, Sandor V, Saunders ME, Oliver C, Lee PA, Judge DP. Phase 2 study of a797, an oral, selective p38 mitogen-activated protein kinase inhibitor, in patients with lamin a/c-related dilated cardiomyopathy. Eur Heart J. 2016;37:1011.

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Authors: McNally, E. M., & Mestroni, L.
Affiliations: Northwestern University (US)
ORCID: McNally, Elizabeth M.
Mestroni, Luisa
Venue: Circulation Research
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2017-09-15
Volume: 121
Issue: 7
Pages: 731-748
ISSN: 0009-7330 (ISSN-L)
1524-4571
DOI: 10.1161/circresaha.116.309396
PMC: PMC5626020
OpenAlex: W2755193453
Cited by: 786
References: 172
Citations by year: 2026: 63 · 2025: 89 · 2024: 93 · 2023: 123 · 2022: 89 · 2021: 105 · 2020: 95 · 2019: 79 · 2018: 43 · 2017: 4
FWCI: 8.52
Type: journal article
Language: en
Open access: green
europepmc.org
Locations: Circulation Research (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institutes of Health (UL1TR001422, UL1TR001082)
National Heart, Lung, and Blood Institute (R01HL122109, R01HL116906, R01HL147064, R01HL128075, R01HL061322, R01HL069071)
National Center for Advancing Translational Sciences
Topics: Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
Keywords: dilated cardiomyopathy, non-ischemic cardiomyopathy, genetic testing, gene panel, cascade testing, arrhythmia risk, prognosis, genetic variants, pathophysiological mechanisms, cardiac morphology, early intervention
MeSH terms: Animals, Biopsy, Cardiomyopathy, Dilated, DNA Mutational Analysis, Genetic Markers, Humans, Mutation, Myocardium, Phenotype, Predictive Value of Tests, Prognosis, Risk Factors, Ventricular Function, Risk Assessment, Genetic Predisposition to Disease, Molecular Diagnostic Techniques, Cardiac Imaging Techniques

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Dilated Cardiomyopathy: Genetic Determinants and Mechanisms

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