Rebeca Lorca

Gene-specific reclassification patterns of variants in hypertrophic cardiomyopathy

Abstract Genetic variant interpretation in hypertrophic cardiomyopathy (HCM) evolves as population reference datasets expand, gene–disease validity assessments examine new candidate genes and additional functional and segregation evidence accumulates. Periodic re-interpretation i...

Genetic Testing After Heart Transplantation Uncovers Heritable Disease and Drives Family Screening

BACKGROUND: Genetic testing (GT) is established in ambulatory cardiomyopathy (CM), but its utility after heart transplantation (HTx) recipients remains poorly characterized. OBJECTIVES: This study aimed to evaluate the clinical utility of GT in adult HTx recipients with CM, focus...