Genetic Basis of Heart Transplanted Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is the most frequent genetic cardiac disease, and is characterized by a heterogeneous presentation and clinical course. Between 3 and 17% of HCM patients develop progressive heart failure and a minority receive heart transplantation. The genetic basis of end-stage HCM is unknown, but small series, case reports and animal models have related the most aggressive heart failure course with the presence of multiple mutations. Our aim was to determine genetic, clinical and histological characteristics in a cohort of HCM heart transplant recipients.