Key result
Genetic testing identifies pathogenic cardiomyopathy variants in ~33% of heart transplant recipients.
Genetic testing is an increasingly actionable tool in advanced heart failure and transplant care, identifying pathogenic variants in roughly one-third of transplant recipients and guiding post-LVAD/transplant management and precision therapies.
Answers are grounded in this paper and cite their sources.
May support genetic evaluation in transplant candidates; leaves open effects on management and outcomes.
Purpose of review Inherited cardiomyopathies are increasingly recognized among patients with advanced heart failure, yet genetic testing remains substantially underutilized. This review examines the evolving clinical utility of genetic testing across advanced heart failure and transplantation and highlights opportunities to integrate genetics into routine advanced heart failure care. Recent findings Pathogenic or likely pathogenic cardiomyopathy variants are identified in approximately one-third of heart transplant recipients and in up to 44% of explanted hearts from patients with idiopathic cardiomyopathy. Recent studies have linked genotype to heart failure progression, ventricular arrhythmias, and outcomes after advanced therapies, including a higher risk of right ventricular failure following left ventricular assist device implantation. Genetic diagnoses can also uncover multisystem disease relevant to transplant evaluation and posttransplant management. At the same time, the emergence of gene replacement, gene editing, and RNA-based therapies is creating new therapeutic implications for establishing a molecular diagnosis before end-stage disease. Summary Genetic testing is becoming an increasingly actionable component of advanced heart failure care. Integrating genetics into advanced heart failure programs may improve recognition of inherited disease, individualize management, and better position patients and their families for emerging precision therapies.
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Silver et al. (2026) conducted a review in Advanced heart failure and heart transplant candidates. Genetic testing was evaluated. Genetic testing identifies pathogenic or likely pathogenic cardiomyopathy variants in ~1/3 of heart transplant recipients and up to 44% of explanted hearts in idiopathic cardiomyopathy.
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