Fig. 1.

Family pedigree and hypertrophic phenotype of MYH7-R403Q hypertrophic cardiomyopathy (HCM) patient. A: family pedigree for patient 1 (designated by arrowhead 1) from whom the MYH7-R403Q human induced pluripotent stem cell (hiPSC) line was created. The patient and all four of her siblings showed symptoms of HCM. Two living siblings also tested positive for the R403Q mutation. One of the siblings (patient 2, designated by arrowhead 2) additionally donated cells for hiPSC derivation, which were used in the experiments in Fig. 2, C–G. B, C: apical four-chamber echocardiography images of patient 1. Images demonstrate small cavity, left ventricular hypertrophy, and abnormal coaptation of the mitral valve, as well as systolic anterior motion of the mitral valve. Extraneous computer graphics and heart-rate information were removed from echocardiography images.