Suppr超能文献

家族性心源性猝死综合征基因检测的临床指征:英国心脏基金会立场声明

Clinical indications for genetic testing in familial sudden cardiac death syndromes: an HRUK position statement.

机构信息

Manchester Heart Centre, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK.

出版信息

Heart. 2008 Apr;94(4):502-7. doi: 10.1136/hrt.2007.127761. Epub 2007 Jul 30.

Abstract

The sudden unexpected death of a young person can have profound implications for the surviving family members beyond those associated with bereavement and the immediate sense of loss. Among these other sequelae may be a concern that the sudden death was caused by a genetic condition and that other family members may suffer the same fate. Increased awareness of these inherited conditions and the transfer of the techniques of genetic testing from the research laboratory into the clinical arena make it possible to identify genetically affected individuals before they have symptoms or experience sudden cardiac death. The development of such tests has been paralleled by the emergence of preventative treatments, which have amplified the clinical importance of such tests. This document provides recommendations regarding the clinical indications for these tests based on the best available evidence.

摘要

年轻人的突然意外死亡,对幸存的家庭成员可能产生深远影响,其影响远不止于丧亲之痛和直接的失落感。在这些其他后遗症中,可能会担心猝死是由遗传疾病引起的,以及其他家庭成员可能会遭受同样的命运。对这些遗传疾病的认识不断提高,以及基因检测技术从研究实验室转移到临床领域,使得在个体出现症状或经历心源性猝死之前,就能够识别出受基因影响的个体。此类检测技术的发展与预防性治疗的出现同步,预防性治疗增强了此类检测的临床重要性。本文件根据现有最佳证据,提供了关于这些检测临床指征的建议。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验