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心脏性猝死的分子遗传学

Molecular genetics of sudden cardiac death.

作者信息

Rodríguez-Calvo María Sol, Brion María, Allegue Catarina, Concheiro Luis, Carracedo Angel

机构信息

Institute of Legal Medicine, University of Santiago de Compostela, Spain.

出版信息

Forensic Sci Int. 2008 Nov 20;182(1-3):1-12. doi: 10.1016/j.forsciint.2008.09.013. Epub 2008 Nov 7.

Abstract

Sudden cardiac death (SCD) is one of the most common causes of death. An important number of sudden deaths, especially in the young, are due to genetic heart disorders, both with structural and arrhythmogenic abnormalities. In recent years, significant advances have been made in understanding the genetic basis of SCD. Identification of the genetic causes of sudden death is important because close relatives are also at potential risk of having a fatal cardiac condition. A comprehensive post-mortem investigation is vital to determine the cause and manner of death and provides the opportunity to assess the potential risk to the family after appropriate genetic counselling. In this paper, we present an update of the different genetic causes of sudden death, emphasizing their importance for the forensic pathologist due to his relevant role in the diagnosis and prevention of SCD.

摘要

心源性猝死(SCD)是最常见的死亡原因之一。相当数量的猝死,尤其是在年轻人中,是由遗传性心脏疾病导致的,这些疾病既有结构异常,也有导致心律失常的异常。近年来,在理解SCD的遗传基础方面取得了重大进展。确定猝死的遗传原因很重要,因为近亲也有患致命心脏疾病的潜在风险。全面的尸检调查对于确定死亡原因和方式至关重要,并且在进行适当的遗传咨询后,提供了评估对家族潜在风险的机会。在本文中,我们介绍了猝死不同遗传原因的最新情况,强调了它们对法医病理学家的重要性,因为法医病理学家在SCD的诊断和预防中发挥着相关作用。

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