法医学杂志 ›› 2010, Vol. 0 ›› Issue (2): 120-127.

• 论文 • 上一篇    下一篇

离子通道病所致的心源性猝死与死后基因检测技术

官大威;赵锐;   

  1. 中国医科大学法医学院法医病理学教研室;
  • 发布日期:2010-04-25 出版日期:2010-04-28

Postmortem Genetic Testing in Sudden Cardiac Death Due to Ion Channelopathies

GUAN DA-WEI,ZHAO RUI (DEPARTMENT OF FORENSIC PATHOLOGY,SCHOOL OF FORENSIC MEDICINE,CHINA MEDICAL UNIVERSITY,SHENYANG 110001,CHINA)   

  • Online:2010-04-25 Published:2010-04-28

摘要: 心脏疾病引起的猝死占人类各类疾病所致猝死的首位。多数心源性猝死案例通过尸体解剖、病理组织学检验可以明确死因为心源性疾病,但尚有少数案例虽经过详细检验并高度怀疑为心源性猝死,但仍不能明确检测到可说明死因的心脏疾病。随着现代分子生物学技术的进步,发现此类猝死者中相当一部分属于先天性心肌细胞离子通道疾病所致,主要包括Brugada综合征、长QT综合征、儿茶酚胺敏感性多形性室性心动过速、短QT综合征等。本文对此类疾病的分子遗传学、心电图所见、临床表现和猝死机制以及死后基因检测技术在死因鉴定中的作用进行了详细的阐述,以期为法医学实践中先天性心肌细胞离子通道疾病所致猝死原因的鉴定提供指导。

关键词: 法医病理学, 猝死, 心脏, 综述[文献类型], 离子通道病, 基因检测

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.

Key words: forensic pathology, death, sudden, cardiac, review[publication type], channelopathies, gene detection