D'Ovidio Cristian, Carnevale Aldo, Grassi Vincenzo M, Rosato Enrica, Del Olmo Bernat, Coll Monica, Campuzano Oscar, Iglesias Anna, Brugada Ramon, Oliva Antonio
Section of Legal Medicine, Department of Medicine and Aging Sciences, 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy.
Institute of Public Health, Legal Medicine Section, Catholic University, School of Medicine, Largo Francesco Vito 1, 00168, Rome, Italy.
Forensic Sci Med Pathol. 2017 Jun;13(2):217-225. doi: 10.1007/s12024-017-9862-9. Epub 2017 Apr 13.
This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia. It was possible to detect a novel, previously undescribed, variant in the RYR2 gene. This case report highlights the importance of a meaningful forensic multidisciplinary investigation in such cases, and also discusses possible medical malpractice claims.
本文讨论了一名年轻男孩在足球比赛中突然死亡的案例。受害者的个人和家族病史均未显示有心脏方面的问题。在他去世前几个月，曾接受过心脏检查，这使他能够参加竞技体育活动。只有通过尸检分子分析，才能更清楚地确定最有可能的死因，结果确定为遗传性心律失常性心脏病，即儿茶酚胺能多形性室性心动过速。在RYR2基因中检测到了一个新的、此前未被描述过的变异。本病例报告强调了在此类案件中进行有意义的法医多学科调查的重要性，同时也讨论了可能的医疗事故索赔问题。
