Human iPSC-derived cardiomyocyte from a patient with D-HCM

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by ventricular wall hypertrophy and diastolic dysfunction. Most patients with HCM are often a slowly progressive disease and may be asymptomatic; however, some progress to the dilated phase of HCM (D-HCM), and have a poorer prognosis. This study established disease-specific human induced pluripotent stem cells (iPSCs) from a patient with D-HCM harboring a truncating mutation in MYBPC3, and compared transcriptomes of iPSCs-derived cardiomyocytes between healthy control and D-HCM.

肥厚型心肌病（Hypertrophic cardiomyopathy, HCM）是一类以心室壁肥厚及舒张功能障碍为特征的遗传性心脏疾病。多数肥厚型心肌病患者的病情呈慢性进展过程，且可无明显临床症状；但部分患者可进展至肥厚型心肌病扩张期（D-HCM），预后更差。本研究从1例携带MYBPC3基因截短突变的肥厚型心肌病扩张期患者体内，构建了疾病特异性人类诱导多能干细胞（iPSCs），并对比了健康对照与该类患者来源的诱导多能干细胞分化心肌细胞的转录组差异。