University Center of Legal Medicine Lausanne-Geneva, Bugnon 21, 1011, Lausanne, Switzerland.
Int J Legal Med. 2011 May;125(3):359-66. doi: 10.1007/s00414-010-0474-0. Epub 2010 Jun 11.
Autopsy-negative sudden cardiac deaths (SCD) seen in forensic practice are most often thought to be the result of sudden arrhythmic death syndrome. Postmortem genetic analysis is recommended in such cases, but is currently performed in only a few academic centers. In order to determine actual current practice, an on-line questionnaire was sent by e-mail to members of various forensic medical associations. The questions addressed routine procedures employed in cases of sudden cardiac death (autopsy ordering, macroscopic and microscopic cardiac examination, conduction tissue examination, immunohistochemistry and electron microscopy, biochemical markers, sampling and storage of material for genetic analyses, toxicological analyses, and molecular autopsy). Some questions concerned the legal and ethical aspects of genetic analyses in postmortem examinations, as well as any existing multidisciplinary collaborations in SCD cases. There were 97 respondents, mostly from European countries. Genetic testing in cases of sudden cardiac death is rarely practiced in routine forensic investigation. Approximately 60% of respondents reported not having the means to perform genetic postmortem testing and 40% do not collect adequate material to perform these investigations at a later date, despite working at university hospitals. The survey demonstrated that many of the problems involved in the adequate investigation of SCD cases are often financial in origin, due to the fact that activities in forensic medicine are often paid by and dependent on the judicial authorities. Problems also exist concerning the contact with family members and/or the family doctor, as well as the often-nonexistent collaboration with others clinicians with special expertise beneficial in the investigation of SCD cases, such as cardiologists and geneticists. This study highlights the importance in establishing guidelines for molecular autopsies in forensic medicine.
在法医学实践中，尸检阴性的猝死（SCD）通常被认为是心律失常性死亡综合征的结果。在这种情况下，建议进行死后基因分析，但目前仅在少数学术中心进行。为了确定实际的当前做法，通过电子邮件向各个法医协会的成员发送了在线问卷。问题涉及猝死（尸检命令、心脏大体和显微镜检查、传导组织检查、免疫组织化学和电子显微镜、生化标志物、遗传分析材料的采样和储存、毒理学分析和分子尸检）的常规程序。一些问题涉及死后检查中遗传分析的法律和伦理方面，以及 SCD 病例中任何现有的多学科合作。共有 97 名受访者，主要来自欧洲国家。在常规法医调查中，很少对猝死进行基因检测。约 60%的受访者报告说，他们没有进行基因死后检测的手段，尽管在大学医院工作，但 40%的人没有收集足够的材料来日后进行这些调查。调查表明，由于法医工作通常由司法当局支付并依赖于司法当局，因此，充分调查 SCD 病例所涉及的许多问题往往源于财务问题。与家属和/或家庭医生的联系也存在问题，与心脏病专家和遗传学家等在 SCD 病例调查中具有特殊专长的其他临床医生的合作往往也不存在。这项研究强调了在法医领域建立分子尸检指南的重要性。
