Simonit Francesco, Da Broi Ugo, D'Elia Angela Valentina, Fabbro Dora, Mio Catia, Bussani Rossana, Pinamonti Maurizio, Desinan Lorenzo
Department of Medicine, Legal Medicine, University of Udine, Udine, Italy.
Department of Medicine, Legal Medicine, University of Udine, Udine, Italy.
Leg Med (Tokyo). 2024 Jul;69:102438. doi: 10.1016/j.legalmed.2024.102438. Epub 2024 Mar 26.
Forensic pathologists are frequently asked to investigate cases of sudden death (SD), and identifying the cause of death can be of particular importance, especially where it may be necessary to perform family screening among the relatives of the victim. A multidisciplinary approach inclusive of genetic analysis is therefore strongly recommended. According to forensic practice, arrhythmogenic cardiomyopathy (ACM) is a well-known cause of SD. However, cases of SD caused by a left ventricular pattern of ACM diagnosed at autopsy are rarely reported in the literature. We present the case of an apparently healthy, 37-year-old male found dead at his home. At autopsy, multiple foci of epicardial and mid-wall fibrous and fibro-adipose tissue were observed within the left ventricle and, to a lesser extent, within the interventricular septum. Toxicology was negative, whereas a filamin C truncating mutation was detected through genetic analysis. To our knowledge, this is the first instance of arrhythmogenic left ventricular cardiomyopathy being diagnosed at autopsy.
法医病理学家经常被要求调查猝死（SD）案件，确定死因可能尤为重要，特别是在可能需要对受害者亲属进行家族筛查的情况下。因此，强烈建议采用包括基因分析在内的多学科方法。根据法医实践，致心律失常性心肌病（ACM）是猝死的一个众所周知的原因。然而，文献中很少报道尸检诊断为左心室型ACM导致的猝死病例。我们报告一例37岁看似健康的男性在家中死亡的病例。尸检时，在左心室内观察到多个心外膜和心肌中层纤维及纤维脂肪组织病灶，室间隔内程度较轻。毒理学检查为阴性，而通过基因分析检测到细丝蛋白C截短突变。据我们所知，这是首例在尸检时诊断为致心律失常性左心室心肌病的病例。
