Elsevier

JACC: Heart Failure

Volume 11, Issue 2, February 2023, Pages 133-142
JACC: Heart Failure

Review Topic of the Month
Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians

https://doi.org/10.1016/j.jchf.2022.11.025Get rights and content
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Highlights

  • Cardiomyopathies can appear clinically indistinguishable but may warrant unique management considerations by genotype.

  • Genetic evaluations ideally involve trained geneticists or genetic counselors, with testing tailored to the phenotype under investigation.

  • Variants of uncertain significance should not be overinterpreted, and evidence for “causative” variants should be periodically reappraised.

Abstract

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.

Key Words

cardiomyopathy
genetic testing
genetic counseling
genetics

Abbreviations and Acronyms

ACM
arrhythmogenic cardiomyopathy
DCM
dilated cardiomyopathy
HCM
hypertrophic cardiomyopathy
VUS
variant of uncertain significance

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