The role of genetic testing in heart transplant candidates
Elizabeth Silver, Nosheen Reza, Ana Morales, Neal K. Lakdawala, Quan M. BuiPurpose 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.