Neubauer Jacqueline, Kissel Christine K, Bolliger Stephan A, Barbon Daniela, Thali Michael J, Kloiber Daniel, Bode Peter K, Kovacs Boldizsar, Graf Urs, Maspoli Alessandro, Berger Wolfgang, Saguner Ardan M, Haas Cordula
Zurich Institute of Forensic Medicine, University of Zurich, Zurich, Switzerland.
Department of Cardiology, University Heart Center, University Hospital Zurich, Zurich, Switzerland.
Forensic Sci Int. 2022 May;334:111240. doi: 10.1016/j.forsciint.2022.111240. Epub 2022 Feb 25.
Sudden cardiac death (SCD) is an important public health issue. In young persons aged between 1 and 40 years, most SCDs are caused by potentially inherited cardiac diseases, often not detectable during conventional medico-legal investigations and therefore termed as sudden unexplained deaths (SUD). In this study, we describe the implementation, feasibility and importance of a standardized procedure to investigate SUD cases within the forensic framework at the Zurich Institute of Forensic Medicine in Switzerland. This new approach involves a multidisciplinary collaboration including forensic autopsy, second pathology expert opinion, post-mortem molecular genetic testing, cardiac counselling of relatives, and a tentative financing. This procedure is in line with the published Swiss and European recommendations on the management of SCDs. During a two-year pilot project, 39 sudden and unexpected death cases were collected, whereof 10 deceased remained without any identifiable cause of death after medico-legal investigation and second expert evaluation. Molecular autopsy, including 393 genes involved in cardio-vascular and metabolic diseases, identified eight pathogenic or likely pathogenic genetic variants in five out of the 10 deceased (50%). Cardio-genetic follow-up investigations in the families of the 10 deceased revealed phenotype-positive relatives in four families and required specific therapies, including an implantable cardioverter defibrillator (ICD) for primary prevention. Multidisciplinary collaboration is crucial for an optimal management of sudden unexplained death cases, to identify additional relatives at risk, and to prevent other tragic deaths within a family.
心源性猝死(SCD)是一个重要的公共卫生问题。在1至40岁的年轻人中,大多数SCD是由潜在的遗传性心脏病引起的,这些疾病在传统的法医学调查中往往无法检测到,因此被称为不明原因猝死(SUD)。在本研究中,我们描述了瑞士苏黎世法医学研究所法医框架内调查SUD病例的标准化程序的实施、可行性和重要性。这种新方法涉及多学科合作,包括法医尸检、二次病理专家意见、死后分子基因检测、亲属的心脏咨询以及初步融资。该程序符合已发表的瑞士和欧洲关于SCD管理的建议。在一个为期两年的试点项目中,收集了39例突然意外死亡病例,其中10例死者在法医学调查和二次专家评估后仍未发现任何可识别的死因。分子尸检,包括对393个涉及心血管和代谢疾病的基因进行检测,在10例死者中的5例(50%)中发现了8个致病或可能致病的基因变异。对这10例死者家属进行的心脏遗传学随访调查发现,4个家庭中有表型阳性的亲属,需要进行特定治疗,包括植入式心脏复律除颤器(ICD)进行一级预防。多学科合作对于不明原因猝死病例的最佳管理、识别其他有风险的亲属以及预防家庭内的其他悲剧性死亡至关重要。