Mu Jiao, Zhang Guohui, Xue Dazhong, Xi Mengrou, Qi Jiarui, Dong Hongmei
Department of Forensic Medicine, Hebei North University, Zhangjiakou, Hebei Department of Forensic Medicine, Tongji Medical College of Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
Medicine (Baltimore). 2017 Nov;96(47):e8808. doi: 10.1097/MD.0000000000008808.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is increasingly recognized in forensic practice with controversial diagnosis. Here we described the epidemiological characteristics and reported the pathogenetic mechanism, diagnostic challenges, and forensic implications of Chinese ARVC autopsy cases.
Two cases of sudden cardiac death owing to ARVC were reported. Retrospective analysis were performed on such 2 cases and 45 cases of separate ARVC complete autopsy case reports through Chinese literature databases in the last 30 years.
There were 27 males and 20 females, and the mean age at death was 35 years. Sudden cardiac death was the first manifestation observed in most patients, with no previous family and medical history. Exercise, acute stress, increased cardiac workload, and ethanol are frequently involved. The mean heart weight was 393 g (range, 240-590 g), and 10 cases had relative heart hypertrophy. Microscopic abnormalities included replacement of myocardium by adipose infiltration in 68.09% cases and fibroadipose in 31.91% cases; 80.85% cases were restricted to the right ventricle (RV), whereas biventricular subtype was seen in the remaining 19.15% cases. The preliminary quantitative histology showed 60.7% of fat tissues, 12.1% of fibrosis, and 27.2% residual myocytes in RV. Inflammatory cell infiltration was found in 25.53% cases, but myocyte necrosis was found in only 1 case. In 10.64% of cases, cardiac conduction was infiltrated by fibrosis, adipose, or both.
In this review, the most characteristic and distinct histopathologic features that are diagnostic or highly suggestive of ARVC for forensic pathologists were identified. Combining gross and histological examinations with postmortem genetic analysis is recommended for identifying ARVC.
致心律失常性右室心肌病（ARVC）在法医学实践中日益受到关注，但其诊断存在争议。在此，我们描述了中国ARVC尸检病例的流行病学特征，并报告了其发病机制、诊断挑战及法医学意义。
报告2例因ARVC导致的心源性猝死病例。通过检索中国文献数据库，对这2例病例以及过去30年中45例单独的ARVC完整尸检病例报告进行回顾性分析。
患者中男性27例，女性20例，平均死亡年龄为35岁。大多数患者首次表现为心源性猝死，既往无家族病史和病史。运动、急性应激、心脏负荷增加和乙醇常与之相关。平均心脏重量为393g（范围为240 - 590g），10例有相对心脏肥大。微观异常包括68.09%的病例心肌被脂肪浸润替代，31.91%的病例为纤维脂肪替代；80.85%的病例局限于右心室（RV），其余19.15%的病例为双心室亚型。初步定量组织学显示RV中脂肪组织占60.7%，纤维化占12.1%，残余心肌细胞占27.2%。25.53%的病例发现有炎性细胞浸润，但仅1例发现心肌细胞坏死。10.64%的病例心脏传导系统被纤维化、脂肪浸润或两者同时浸润。
在本综述中，确定了对法医病理学家具有诊断意义或高度提示ARVC的最具特征性和独特的组织病理学特征。建议将大体和组织学检查与死后基因分析相结合以识别ARVC。
