Nishi H, Harada H, Kimura A
Third Department of Medicine, Kurume University School of Medicine.
Nihon Rinsho. 1993 Jun;51(6):1448-52.
Hypertrophic cardiomyopathy (HCM) is a disease of unknown etiology characterized by cardiac hypertrophy and disarrays of myocardial fiber and fibrils. More than half of patients with HCM show an apparent family history consistent with autosomal dominant inheritance. Mutations in the cardiac beta myosin heavy chain (MHC) gene have recently been identified in several Caucasian HCM families and suspected to be causative. To date, 8 missense mutations had been reported in Caucasian HCM families. We have also analyzed the structure of cardiac beta MHC gene in Japanese patients with HCM, and found 3 missense mutations. The application of the techniques of molecular biology provides a new understanding of HCM, for example, preclinical diagnosis and prediction of prognosis.
肥厚型心肌病（HCM）是一种病因不明的疾病，其特征为心肌肥厚以及心肌纤维和肌原纤维排列紊乱。超过半数的肥厚型心肌病患者有明显的家族史，符合常染色体显性遗传。最近在几个白种人肥厚型心肌病家族中发现了心脏β肌球蛋白重链（MHC）基因突变，并怀疑其为病因。迄今为止，在白种人肥厚型心肌病家族中已报告了8种错义突变。我们也分析了日本肥厚型心肌病患者的心脏βMHC基因结构，发现了3种错义突变。分子生物学技术的应用为肥厚型心肌病提供了新的认识，例如临床前诊断和预后预测。
