Zeman Martin, Kučerová Štěpánka Pohlová, Vojtíšek Tomáš, Hejna Petr
Soud Lek. 2023 Spring;68(1):2-10.
Sudden cardiac death (SCD) in individuals younger than 40 years has a heritable cause in a significant part of the cases. Identification of SCD, post mortem genetic analysis, and the cardiological screening examination in victim´s relatives represent an important diagnostic tool for the primary prevention of cardiac arrest. Based on global and European recommendations, cases of sudden cardiac death in individuals under the age of 40 with negative or ambiguous autopsy findings, or findings suspicious for hereditary cardiovascular disease, should be investigated using molecular genetic methods. Based on European guidelines, the Czech Society of Forensic Medicine and Forensic Toxicology has developed its own recommended procedure, which summarizes the identification of these cases, the optimal autopsy procedure, including the collection of material, and a summary of other necessary actions for performing a post mortem genetic examination in a person who has died suddenly. Complex examination of these cases requires multicentric and multidisciplinary collaboration.
40岁以下个体的心脏性猝死（SCD）在很大一部分病例中有遗传原因。识别SCD、尸检基因分析以及对受害者亲属进行心脏检查是心脏骤停一级预防的重要诊断工具。根据全球和欧洲的建议，对于40岁以下、尸检结果为阴性或不明确、或有遗传性心血管疾病可疑迹象的心脏性猝死病例，应采用分子遗传学方法进行调查。根据欧洲指南，捷克法医学和法医毒理学学会制定了自己的推荐程序，该程序总结了这些病例的识别、最佳尸检程序（包括材料收集）以及对突然死亡者进行尸检基因检查的其他必要行动的总结。对这些病例进行综合检查需要多中心和多学科的合作。
