Kimura A
Department of Molecular Pathogenesis, Tokyo Medical and Dental University.
Nihon Rinsho. 2000 Jan;58(1):117-22.
Idiopathic cardiomyopathy(ICM) is by definition of unknown etiology. There are four clinical types of ICM; hypertrophic cardiomyopathy(HCM) characterized by ventricular hypertrophy associated with reduced compliance of the heart and accompanied by myofibrillar disarray, dilated cardiomyopathy(DCM) characterized by dilated ventricles associated with systolic dysfunction, restricted cardiomyopathy (RCM) and arrhythmogenic right ventricular cardiomyopathy(ARVC). Recent molecular genetic analyses have now revealed disease-associated mutations in ICM, especially in familial HCM and familial DCM. Mutations in 9 different disease genes (MYH7, TNNT2, TPM1, MYBPC3, MYL3, MYL2, TNNI3, CACT and TTN) cause HCM, while mutations in 3 different genes(CACT, DES and DMD) cause DCM in adults. In this review, I will summarize our current data on sarcomere mutations found in Japanese ICM, especially in HCM and DCM.
特发性心肌病（ICM）根据定义是病因不明的。ICM有四种临床类型；肥厚型心肌病（HCM）的特征是心室肥厚伴心脏顺应性降低，并伴有肌原纤维排列紊乱，扩张型心肌病（DCM）的特征是心室扩张伴收缩功能障碍，限制型心肌病（RCM）和致心律失常性右室心肌病（ARVC）。最近的分子遗传学分析现已揭示ICM中与疾病相关的突变，尤其是家族性HCM和家族性DCM中的突变。9种不同疾病基因（MYH7、TNNT2、TPM1、MYBPC3、MYL3、MYL2、TNNI3、CACT和TTN）的突变导致HCM，而3种不同基因（CACT、DES和DMD）的突变在成人中导致DCM。在这篇综述中，我将总结我们目前关于日本ICM中发现的肌节突变的数据，尤其是HCM和DCM中的数据。
