Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease, with a prevalence of 1/500. It is caused by over 1400 different mutations, mainly involving the genes encoding sarcomeric proteins. The main pathological features of HCM are left ventricular hypertrophy, diastolic dysfunction and increased ventricular arrhythmogenesis. Here we use patient specific human induced pluripotent stem-cell (iPSC) derived cardiomyocytes and engineered 3-D tissues carrying mutations causing hypertrophic cardiomyopathy (HCM) in patients to test and validate pharmacological and RNA-based therapeutic tools that we have developed. These interventions are designed to improve the energy metabolism of the tissues and to prevent HCM-mutation specific pathological developments. This project uses a wide range of methods and integrates data from different disciplines for proof-of-concept validation of novel therapies aimed at prevention and treatment of HCM.

2025

2026