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Dilated Cardiomyopathy: Genetic Determinants and Mechanisms
Open accessAbstract
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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“Dilated cardiomyopathy (DCM) is defined by an enlarged and poorly contractile LV. Genetic or non-genetic causes, including hypertension and valve diseases, may lead to dilated cardiomyopathy. This type of heart disease is the major cause of HF [51,53].”
From Cardiovascular disease models: A game changing paradigm in drug discovery and screening (2019) · cites this paper as [53]
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Metadata
- Authors
- McNally, E. M., & Mestroni, L.
- Affiliations
- Northwestern University (US)
- Venue
- Circulation Research
- Published
- 2017-09-15
- Volume
- 121
- Issue
- 7
- Pages
- 731-748
- ISSN
- 0009-7330 (ISSN-L)
- 1524-4571
- 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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