Cellular models and therapeutic perspectives in hypertrophic cardiomyopathy

Med Genet. 2021 Dec 3;33(3):235-243. doi: 10.1515/medgen-2021-2094. eCollection 2021 Sep.

Abstract

Hypertrophic cardiomyopathy (HCM) is a clinically heterogeneous cardiac disease that is mainly characterized by left ventricular hypertrophy in the absence of any additional cardiac or systemic disease. HCM is genetically heterogeneous, inherited mainly in an autosomal dominant pattern, and so far pathogenic variants have been identified in more than 20 genes, mostly encoding proteins of the cardiac sarcomere. Based on its variable penetrance and expressivity, pathogenicity of newly identified variants often remains unsolved, underlining the importance of cellular and tissue-based models that help to uncover causative genetic alterations and, additionally, provide appropriate systems for the analysis of disease hallmarks as well as for the design and application of new therapeutic strategies like drug screenings and genome/base editing approaches. Here, we review the current state of cellular and tissue-engineered models and provide future perspectives for personalized therapeutic strategies of HCM.

Keywords: CRISPR/Cas9; engineered heart tissue; genome editing; hypertrophic cardiomyopathy; induced pluripotent stem cells.

Grants and funding

This work was supported by the German Federal Ministry of Education and Research (BMBF) and the German Center for Cardiovascular Research (DZHK) (partner site Göttingen, grant 08Z0300112) to G.Y. and B.W., by the German Research Foundation (Deutsche Forschungsgemeinschaft [DFG]) under the Collaborative Research Centres Programme SFB1002 (project D02) to B.W., and by Germany’s Excellence Strategy, Cluster of Excellence “Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells” (MBExC; EXC 2067/1-390729940) to B.W.