Abstract 12793: Characterization of Isogenic Human IPSC Engineered Cardiac Tissue Deficient in Cardiac Myosin Binding Protein C Indicates a Primary Calcium-Handling Abnormality

Authors: Willem J De Lange, Emily T Farrell, John C Ralphe

Published: 2024-04-23

DOI: 10.1161/circ.144.suppl_1.12793

Source: Full article

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Abstract

Mutations that cause truncation of cardiac myosin binding protein C (cMyBP-C) are common causes of hypertrophic cardiomyopathy (HCM), and cause disease through a mechanism of haploinsufficiency. Recent studies in isogenic iPSC-cardiomyocyte (CM) heterozygous for cMyBP-C truncation, show normal cMyBP-C protein levels, suggesting a different mechanism. Though rare, cases of patients homozygous for cMyBP-C truncations, present with early postnatal cardiomyopathy rapidly progressing to heart failure.