Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians

JACC Heart Fail. 2023 Feb;11(2):133-142. doi: 10.1016/j.jchf.2022.11.025.


Patients and families benefit when the genetic etiology of cardiomyopathy is elucidated through a multidisciplinary approach including genetic counseling and judicious use of genetic testing. The yield of genetic testing is optimized when performed on a proband with a clear phenotype, and interrogates genes that are validated in association with that specific form of cardiomyopathy. Variants of uncertain significance are frequently uncovered and should not be overinterpreted. Identifying an impactful genetic variant as the cause of a patient's cardiomyopathy can have important prognostic impact, and enable streamlined cascade testing to highlight at risk relatives. Certain genotypes are associated with unique potential cardiac and noncardiac risk factors and may dictate personalized approaches to treatment.

Keywords: cardiomyopathy; genetic counseling; genetic testing; genetics.

Publication types

  • Review
  • Research Support, N.I.H., Extramural

MeSH terms

  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / genetics
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Heart Failure* / genetics
  • Humans
  • Phenotype