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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
Summary
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.
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