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Phenotyping heart failure by genetics and associated conditions

Joshua Wong1, Stacey Peters1, Thomas H Marwick1

  • 1Baker Heart and Diabetes Institute and Department of Cardiometabolic Health, University of Melbourne, PO Box 6492, Melbourne, VIC 3004, Australia.

European Heart Journal. Cardiovascular Imaging
|June 6, 2023
PubMed

Insights

Genetic testing aids in identifying specific heart failure causes and implications, though its diagnostic yield is modest. Future research should explore genetic polymorphisms

Area of Science:

  • Cardiology
  • Genetics
  • Precision Medicine

Background:

  • Heart failure (HF) is a complex, heterogeneous condition.
  • Genetic testing identifies specific variants linked to HF phenotypes like dilated, arrhythmogenic right ventricular, and hypertrophic cardiomyopathies.
  • These genetic findings have direct treatment implications.

Purpose of the Study:

  • To explore the role of genetic testing in refining heart failure diagnoses beyond traditional imaging methods.
  • To highlight the clinical significance of identified genetic variants in specific heart failure subtypes.
  • To discuss the challenges and future directions in genetic analysis for heart failure.

Main Methods:

  • Review of current literature on genetic testing in heart failure.
  • Analysis of diagnostic yield and clinical utility of genetic testing for cardiomyopathies.
  • Discussion of genotype-phenotype correlations and treatment implications.

Main Results:

  • Genetic testing can identify specific causative variants in a subset of heart failure patients.
  • Diagnostic yield varies, with many rare variants showing incomplete penetrance and variable expressivity.
  • Environmental factors and comorbidities significantly contribute to HF heterogeneity.

Conclusions:

  • Genetic testing offers incremental phenotypic distinctions in heart failure, complementing imaging.
  • While diagnostic yield is modest, identified variants can guide targeted therapies.
  • Future research should focus on the cumulative effects of genetic polymorphisms and environmental interactions in HF development.

Keywords:
genetic testingheart failure

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