Abstract 16661: MYH7-R403Q Patient-Derived Induced Pluripotent Stem Cell Cardiomyocytes as a Model of Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) affects 1 in 500 people worldwide, leading to reduced left ventricle chamber size, impaired relaxation, reduced cardiac output, fibrosis, arrhythmia and failure. Up to 35% of HCM cases are linked to missense mutations in the MYH7 gene. One mutation, R403Q, is associated with a high incidence of sudden cardiac death. A lack of viable cardiomyocytes to study HCM has led to the development of induced pluripotent stem cell-derived cardiomyocytes (iPS-CMs). The purpose of this study was to profile the functional and electrical phenotype of iPS-CMs from a healthy adult and a patient with the MYH7-R403Q mutation. Methods: iPS-CMs from both a heathy(C) and MYH7-R403Q(E) patient were obtained from Cellular Dynamics International and profiled using the Nanion CardioExcyte96. Impedance measurements to assess contractile function and extracellular field potential (EFP) to evaluate action potential duration were collected. Results: Reduced impedance amplitude (C=8.31±0.15,E=5.94±0.02O...