遗传学在诊断心脏性猝死方面的挑战。法医和法律医学的兴趣。

IF 2.6 4区 医学 Q1 MEDICINE, GENERAL & INTERNAL Medicina Clinica Pub Date : 2024-11-18 DOI:10.1016/j.medcli.2024.10.002
Alejandro Blanco-Verea, Ángel Carracedo, María Brion
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引用次数: 0

摘要

在发达国家,心脏性猝死是导致死亡的主要原因,其中有一小部分病例在彻底尸检后仍无法解释原因。40 岁以下人群的心脏性猝死病例主要由结构性心脏病或心肌病以及心律失常性疾病或通道病引起。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找到不明原因的心脏性猝死的原因,通过对以前未确诊的通道病或心肌病进行基因诊断。如果发现被归类为与心脏病理相关的致病基因变异,将对尸检结果做出结论,并为其他家庭成员的基因筛查提供可能。
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Challenges of genetics in the diagnosis of sudden cardiac death. Interest of forensic and legal medicine.

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.

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来源期刊
Medicina Clinica
Medicina Clinica 医学-医学:内科
CiteScore
3.10
自引率
5.10%
发文量
295
审稿时长
22 days
期刊介绍: Medicina Clínica, fundada en 1943, es una publicación quincenal dedicada a la promoción de la investigación y de la práctica clínica entre los especialistas de la medicina interna, así como otras especialidades. Son características fundamentales de esta publicación el rigor científico y metodológico de sus artículos, la actualidad de los temas y, sobre todo, su sentido práctico, buscando siempre que la información sea de la mayor utilidad en la práctica clínica.
期刊最新文献
A comprehensive approach to end-of-life care. Medical-legal, ethical, social, psychological and care aspects. Challenges of genetics in the diagnosis of sudden cardiac death. Interest of forensic and legal medicine. Increasing prevalence of psoriasis in Spain: A population-based study (2018-2022). Cutaneous myiasis in a pediatric patient: An ultrasound diagnostic approach Disección aórtica
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