【摘要】 肥厚型心肌病是以心室壁心肌的非对称性肥厚为特征的一种特发性心肌疾病,目前被认为是一种基因突变所导致的常染色体疾病。在人类,在编码与构成肌小节有关的蛋白质的基因中,现在发现至少有11种基因,超过200种不同的基因突变类型与肥厚型心肌病有关。另外,一些与肌小节无关的基因突变也参与了该病的发生。更多还原

【Abstract】 Hypertrophic cardiomyopathy is a primary disorder of the myocardium characterised by disproportionate hypertrophy of the ventricular wall.It is the most common genetic cardiac disease,there are at least 11 genes that encode sarcomere proteins,more than 200 types of mutations relate to hypertrophic cardiomyopathy.In addition,a lot of mutations having nothing to do with sarcomere proteins also contribut to this disease.更多还原