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[离子通道病所致心脏性猝死的尸检基因检测]

[Postmortem genetic testing in sudden cardiac death due to ion channelopathies].

作者信息

Guan Da-wei, Zhao Rui

机构信息

Department of Forensic Pathology, School of Forensic Medicine, China Medical University, Shenyang 110001, China.

出版信息

Fa Yi Xue Za Zhi. 2010 Apr;26(2):120-7.

Abstract

Sudden cardiac death accounts for majority of deaths in human. Evident cardiac lesions that may explain the cause of death can be detected in comprehensive postmortem investigation in most sudden cardiac death. However, no cardiac morphological abnormality is found in a considerable number of cases although the death is highly suspected from cardiac anomaly. With the advances in the modern molecular biology techniques, it has been discovered that many of these sudden deaths are caused by congenital ion channelopathies in myocardial cell, i.e., Brugada syndrome, long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and short QT syndrome, etc. This article presents the molecular genetics, electrocardiographic abnormalities, clinical manifestations, and mechanisms leading to sudden cardiac death with emphasis on the role of postmortem genetic testing in certification of cause of death. It may provide helpful information in investigating sudden cardiac death due to ion channelopathies in medico-legal practice.

摘要

心脏性猝死占人类死亡的大多数。在大多数心脏性猝死的全面尸检调查中,可以检测到可能解释死亡原因的明显心脏病变。然而,尽管高度怀疑死亡是由心脏异常引起的,但在相当数量的病例中未发现心脏形态学异常。随着现代分子生物学技术的进步,已发现许多此类猝死是由心肌细胞先天性离子通道病引起的,即Brugada综合征、长QT综合征、儿茶酚胺能多形性室性心动过速和短QT综合征等。本文介绍了分子遗传学、心电图异常、临床表现以及导致心脏性猝死的机制,重点强调了死后基因检测在死因认证中的作用。它可能为法医学实践中调查离子通道病所致心脏性猝死提供有用信息。

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