心脏性猝死的尸检

Z. Yener, O. Celbiş
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引用次数: 1

摘要

心源性猝死被描述为在出现症状后1小时内发生的死亡,或在无目击死亡中出现症状后24小时内死亡。在我国进行的研究表明,心血管疾病导致的死亡是最常见的,占所有死亡的20%。虽然年轻人的猝死很少见,但进行详细的尸检和其他必要的程序是很重要的。法医很难确定猝死的病因,尽管进行了宏观、毒理学和组织病理学评估,但仍有5-1%的病例无法确定死因。欧洲心血管病理学协会也建议,当某些心脏原因不能确定形态时,进行分子解剖。本综述旨在为心源性猝死病例的家属提供遗传咨询,如果宏观、毒理学和组织病理学检查不能解释心源性猝死的原因,特别是儿童和青少年,通过遗传评估来明确死亡的病因。我国目前最主要的问题是缺乏多学科的途径和规范的管理方法。在我国,分子尸检仅在少数和选定的病例中进行,但如果通过部门间协议和新的遗传诊断方法的应用,使这些遗传评估更具适用性和可及性,则有可能在未来制定标准化的分子尸检病例选择方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Autopsy in sudden cardiac deaths
Sudden cardiac death is described as death that occur within the 1st hour of the onset of the symptoms or death within the 24 hours of the onset of symptoms in unwitnessesed deaths. Studies conducted in our country reveal that cardiovascular origined deaths are the most frequent, with a rate of 20% of all deaths. Although sudden deaths in young people are rare, it is important to perform a detailed autopsy and other required procedures. The etiology of the sudden death is hard to determine for the forensic doctors and in 5-1% of all cases no certain cause is determined despite the macroscopic, toxicologic and histopathologic evaluations. European Society of Cardiovascular Pathology also recommends performing molecular autopsy when the certain cardiac cause cannot be determined morphological. This review aims to offer genetical consulting to the family members of the sudden cardiac death cases and clarify the etiology of death via genetical evaluation if the macroscopic, toxicologic and histopathologic examinations fail to explain the cause of the sudden cardiac death especially in children and young adults. The most important problems in our country are the lack of multidisiplinary approach and standardized management methods. In our country molecular autopsy is only considered in rare and selected cases, but if these genetical evaluations were made more applicable and accessible via interdepartmental agreements and the application of new genetical diagnosis methods, it would be possible to develop standardized methods for the case selection of molecular autopsies in the future.
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