Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genet Med. 2018 Sep;20(9):899-909. doi: 10.1038/s41436-018-0039-z. Epub 2018 Jun 14.


Purpose: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life.

Methods: A writing group of cardiologists and genetics professionals updated guidance, first published in 2009 for the Heart Failure Society of America (HFSA), in a collaboration with the American College of Medical Genetics and Genomics (ACMG). Each recommendation was assigned to teams of individuals by expertise, literature was reviewed, and recommendations were decided by consensus of the writing group. Recommendations for family history, phenotype screening of at-risk family members, referral to expert centers as needed, genetic counseling, and cardiovascular therapies, informed in part by phenotype, are presented in the HFSA document.

Results: A genetic evaluation of cardiomyopathy is indicated with a cardiomyopathy diagnosis, which includes genetic testing. Guidance is also provided for clinical approaches to secondary findings from cardiomyopathy genes. This is relevant as cardiomyopathy is the phenotype associated with 27% of the genes on the ACMG list for return of secondary findings. Recommendations herein are considered expert opinion per current ACMG policy as no systematic approach to literature review was conducted.

Conclusion: Genetic testing is indicated for cardiomyopathy to assist in patient care and management of at-risk family members.

Keywords: Cardiomyopathy; Genetic analysis; Genetics; Practice resource; Secondary findings.

Publication types

  • Guideline

MeSH terms

  • Cardiomyopathies / genetics*
  • Genetic Counseling / methods
  • Genetic Testing / standards*
  • Genetics / standards
  • Genetics, Medical / methods
  • Genomics / standards
  • Genotype
  • Humans
  • Incidental Findings
  • Mass Screening
  • Phenotype
  • Quality of Life
  • United States