Sato Takako, Nishio Hajime, Suzuki Koichi
Department of Legal Medicine, Osaka Medical College, 2-7 Daigaku, Takatsuki, 569-8686, Japan.
J Forensic Sci. 2015 Mar;60(2):457-61. doi: 10.1111/1556-4029.12657. Epub 2015 Feb 18.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) results in an increased risk of sudden death. We sought mutations of desmoglein-2 (DSG2), desmoplakin (DSP), and plakophilin-2 (PKP2) in 15 cases of sudden death whose causes of death could not be determined at autopsy. In three victims, mutations were identified in DSP. Two of these mutations were novel; one had previously been reported in a patient with ARVC that had been diagnosed clinically. Histological findings were not typical of ARVC; however, it was notable that these mutations were present in three of 15 cases, a relatively high proportion. The causal relationship between the mutations and ARVC is unclear, but the mutations might have been associated with faulty desmosomal proteins resulting in fatal arrhythmia. Combining information gathered by the traditional means of gross and histological examination with postmortem genetic analysis of young victims would assist in identifying their cause of death.
致心律失常性右室心肌病（ARVC）会增加猝死风险。我们在15例尸检时死因无法确定的猝死病例中寻找桥粒芯蛋白-2（DSG2）、桥粒斑蛋白（DSP）和盘状球蛋白-2（PKP2）的突变。在三名受害者中，发现了DSP的突变。其中两个突变是新发现的；另一个此前曾在一名临床诊断为ARVC的患者中报道过。组织学检查结果并非ARVC的典型表现；然而，值得注意的是，这些突变在15例病例中的3例出现，比例相对较高。这些突变与ARVC之间的因果关系尚不清楚，但这些突变可能与桥粒蛋白缺陷导致致命性心律失常有关。将传统大体和组织学检查收集的信息与年轻受害者的死后基因分析相结合，将有助于确定其死因。
