长QT综合征引起的婴儿猝死综合征:遗传底物和流行的简要回顾。

IF 16.4 1区 化学 Q1 CHEMISTRY, MULTIDISCIPLINARY
Accounts of Chemical Research Pub Date : 2017-03-14 eCollection Date: 2017-12-01 DOI:10.1186/s40709-017-0063-1
Nikolaos S Ioakeimidis, Theodora Papamitsou, Soultana Meditskou, Zafiroula Iakovidou-Kritsi
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引用次数: 15

摘要

导致婴儿猝死综合征(SIDS)的病理生理机制尚未完全了解。心脏通道病变是一个公认的病因,其中长QT综合征(LQTS)是最常见的病因,约占SIDS病例的12%。上述心律失常综合征的遗传底物已被彻底描述,但只有特定的基因突变或多态性被确定为SIDS的病因。此次审查将重点关注lqts诱发的小岛屿发展中国家或近小岛屿发展中国家病例的流行情况以及导致这些病例的突变。在PubMed和Scopus电子数据库中进行文献检索。使用的搜索词是:长QT综合征,通道病变,QT延长,心脏离子通道。上述搜索词总是与“婴儿猝死综合症”这个词结合在一起。符合条件的研究类型包括:病例对照、家庭谱系分析、病例报告。根据六项广泛的遗传研究,lqts诱发的小岛屿发展中国家的患病率在3.9%至20.6%之间,平均为12%。由于LQTS可以得到有效的管理,如果一种筛查方法足够有效,可以发现所有受影响的婴儿,那么LQTS相关的小岛屿发展中国家病例是可以预防的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible. A literature search was performed in PubMed and Scopus electronic databases. Search terms used were: long QT syndrome, channelopathies, QT prolongation, cardiac ion channels. The above-mentioned search terms were always combined with the term: sudden infant death syndrome. Study types considered eligible were: case-control, family pedigree analysis, case reports. The prevalence of LQTS-induced SIDS according to six broad genetic studies ranges from 3.9 to 20.6%, with an average of 12%. Since LQTS can be effectively managed, LQTS-related SIDS cases could be prevented, provided that a screening method is efficient enough to detect all the affected infants.

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来源期刊
Accounts of Chemical Research
Accounts of Chemical Research 化学-化学综合
CiteScore
31.40
自引率
1.10%
发文量
312
审稿时长
2 months
期刊介绍: Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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