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年轻人群心脏性猝死预防的进展

Advances in the prevention of sudden cardiac death in the young.

作者信息

Shephard Rhian, Semsarian Christopher

机构信息

Signal Transduction Group, Centenary Institute, Sydney, Australia

出版信息

Ther Adv Cardiovasc Dis. 2009 Apr;3(2):145-55. doi: 10.1177/1753944708100181. Epub 2009 Jan 14.

Abstract

Sudden cardiac death (SCD) is a tragic and devastating complication of a number of cardiovascular diseases. Although coronary artery disease accounts for a majority of these deaths across all ages, many other aetiologies contribute to this problem when it occurs in the young (age < or = 35 years), where coronary artery disease is far less common. Specifically, genetic heart disorders are an important cause of SCD in the young. While pharmacological therapies have made some impact on prevention of SCD, the introduction of implantable cardioverter-defibrillator (ICD) therapy has been the single major advance in the prevention of SCD in the young. In addition, the awareness that most causes of SCD in the young are inherited, means family screening of relatives of young SCD victims allows identification of previously unrecognised at-risk individuals thereby enabling prevention of SCD in relatives. The role of genetic testing, both in living affected individuals and in the setting of a 'molecular autopsy', is emerging as a key factor in early diagnosis of an underlying cardiovascular genetic disorder. Understanding the genetic basis of SCD, investigating the molecular mechanisms that lead from the gene defect to the clinical phenotype, and elucidating the specific environmental triggers for SCD, will most likely lead to further key improvements in the prevention of SCD in the young.

摘要

心源性猝死(SCD)是多种心血管疾病的一种悲惨且具有毁灭性的并发症。尽管冠状动脉疾病在所有年龄段的心源性猝死中占大多数,但当发生在年轻人(年龄≤35岁)中时,许多其他病因也会导致这一问题,而冠状动脉疾病在该年龄段远没有那么常见。具体而言,遗传性心脏疾病是年轻人心源性猝死的一个重要原因。虽然药物治疗在预防心源性猝死方面取得了一些成效,但植入式心脏复律除颤器(ICD)疗法的引入是预防年轻人心源性猝死的唯一一项重大进展。此外,认识到年轻人心源性猝死的大多数病因是遗传性的,这意味着对年轻心源性猝死受害者的亲属进行家族筛查能够识别出此前未被认识到的高危个体,从而预防亲属发生心源性猝死。基因检测在存活的患病个体以及“分子尸检”中的作用,正逐渐成为早期诊断潜在心血管遗传疾病的关键因素。了解心源性猝死的遗传基础,研究从基因缺陷到临床表型的分子机制,以及阐明心源性猝死的具体环境触发因素,很可能会进一步显著改善对年轻人心源性猝死的预防。

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