摘要
肥厚型心肌病(HCM)是以心肌非对称性肥厚、心室腔变小为特征,以左心室血液充盈受阻、舒张期顺应性下降为基本病变的原发性心肌病,易发生较严重心律失常,约50%的患者发生猝死(SD)。目前,HCM通常被认为是一种基因突变所导致的常染色体显性遗传性疾病,已报道的相关突变超过900种,主要有β肌球蛋白重链基因、肌球蛋白结合蛋白C基因、心脏肌钙蛋白T基因等13个心脏肌节蛋白基因以及相关的线粒体基因,临床表型多样。通过药物和非药物治疗可以减轻患者症状、改善功能和生活质量。本文就肥厚梗阻型心肌病(HOCM)的致病分子机制、病理生理、梗阻机制及诊治的研究进展作一全面的综述。
Hypertrophic cardiomyopathy（HCM） is a primary myocardial disease with the characteristics of myocardial asymmetric in hypertrophy,ventricular chamber in smaller,and the basic lesions of left ventricular blood with filled and blocked,diastolic compliance with reduced.It is easy to occur arrhythmia with serious with approximately 50% of patients occurred sudden death（SD）.At present,HCM is generally considered as an autosomal dominant inherited disease caused by gene mutations.Relevant mutations have been reported which are more than 900 kinds,with 13 main protein of heart of the protein gene and related sarcomere mitochondrial genes including β myosin heavy chain gene,myosin combined with protein C genes,cardiac troponin T gene and mitochondrial genes,the clinical phenotype is diversity.Drugs and non-drug treatment can reduce symptoms,improve function and quality of life.In this paper,the pathogenic molecular mechanisms,pathophysiology,obstruction mechanism,diagnosis and treatment of research progress of hypertrophic obstructive cardiomy opathy（HOCM） are overviewed in comprehensive.
出处
《中国当代医药》
2012年第29期22-25,共4页
China Modern Medicine
关键词
心肌病
肥厚型
梗阻性
病因遗传学
病理生理
梗阻机制
治疗
Cardiac disease
Hypertrophic
Obstructive
Etiology genetics
Pathophysiology
Obstruction mechanism
Treatment
