致心律失常性右室心肌病研究进展

致心律失常性右室心肌病(ARVC)是一种新命名的原发性心肌病,其病因和发病机制至今未明。过去研究报道的病因发病机制有炎症、免疫、退行性变及个体发育不良等几种学说,但新近越来越多的研究表明其与凋亡和基因突变有关。ARVC以青壮年男性多见,多有家庭病史和遗传倾向,属常染色体显性遗传,是年轻人较常见的猝死原因之一。心脏病变的特征是右心室心肌局灶性或大片被脂肪和纤维脂肪组织所取代,正常心肌被分隔成岛状或块状,散在分布于纤维脂肪组织间,右心室壁变薄、右心室腔扩张。鉴别诊断主要是扩张型心肌病和脂肪心等。尸检时除应全面系统地解剖外,心脏需多部位,特别是右心室取材做病理切片检查。

New progress of arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) which was named in recent year is a kind of new primary myocardial disease of unknown cause and pathogenesis. Although several theories such as inflammation, immunology, degeneration and maldevelopment have reported, there is growing evidence for apoptosis and genetic mutation in the patients. ARVC was mainly seen in young men and most of them had family history and genetic tendency with autosomic dominant inheritance , which has been recognized as a major causes of sudden death in the young. The feature of ARVC is that the right ventricular myocardium was replaced by fatty and fibroadipose tissue, either segment or diffuse. The diagnosis, differential diagnosis and the notes of expertise of forensic medicine have also been discussed.