Dilated cardiomyopathy: Genetic determinants and mechanisms

Elizabeth M. McNally*, Luisa Mestroni

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

489 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)731-748
Number of pages18
JournalCirculation research
Issue number7
StatePublished - Sep 1 2017


  • Cardiomyopathy
  • Dilated
  • Genetic testing
  • Heart failure
  • Mutation
  • Sarcomeres
  • Therapeutics

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology


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