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遗传学在心脏性猝死诊断中的挑战。对法医学和法律医学的意义。

Challenges of genetics in the diagnosis of sudden cardiac death. Interest for forensic and legal medicine.

作者信息

Blanco-Verea Alejandro, Carracedo Ángel, Brion María

机构信息

Xenética Cardiovascular, Instituto de Investigación Sanitaria de Santiago, Santiago de Compostela, A Coruña, España; Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Santiago de Compostela, A Coruña, España.

Grupo de Medicina Xenómica, Universidade de Santiago de Compostela, Santiago de Compostela, A Coruña, España; Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), Santiago de Compostela, A Coruña, España.

出版信息

Med Clin (Barc). 2025 Feb 14;164(3):e1-e7. doi: 10.1016/j.medcli.2024.10.002. Epub 2024 Nov 18.

DOI:10.1016/j.medcli.2024.10.002
PMID:39562230
Abstract

Sudden cardiac death is the leading cause of death in developed countries and a small but significant number of cases cannot be explained after a thorough autopsy process. Cases of sudden cardiac death in people under 40years of age are mainly due to structural heart disease or cardiomyopathies and arrhythmogenic diseases or channelopathies. In these cases, the search for associated genetic factors through molecular autopsy may help to find the cause of unexplained sudden cardiac death, through genetic diagnosis of previously undiagnosed channelopathies or cardiomyopathies. The finding of genetic variants classified as pathogenic associated with cardiac pathology would conclude the autopsy result and provide the possibility of genetic screening in other family members.

摘要

心脏性猝死是发达国家的主要死因,在经过全面尸检后仍有一小部分但数量可观的病例无法得到解释。40岁以下人群的心脏性猝死病例主要归因于结构性心脏病、心肌病以及致心律失常性疾病或离子通道病。在这些病例中,通过分子尸检寻找相关遗传因素,可能有助于通过对先前未诊断出的离子通道病或心肌病进行基因诊断,来找出不明原因心脏性猝死的病因。发现与心脏病理相关的被归类为致病性的基因变异,将得出尸检结果,并为其他家庭成员进行基因筛查提供可能性。

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