Suppr超能文献

[猝死——考虑严重的家族性心律失常]

[Premature sudden death--consider serious familial heart rhythm disturbances].

作者信息

Postema Pieter G, Christiaans Imke, Alders Marielle, Hofman Nynke, Wilde Arthur A M

机构信息

Academisch Medisch Centrum, Afd. Cardiologie, Hartfaal Centrum, Amsterdam, the Netherlands.

出版信息

Ned Tijdschr Geneeskd. 2011;155(39):A3391.

Abstract

We describe 3 patients from a region in the centre of the Netherlands with several relatives who died prematurely from sudden cardiac arrest. These premature deaths appeared to be caused by a unique familial sudden death syndrome. These patients and their relatives did not present any distinguishable signs, symptoms or abnormalities on further examinations apart from premature cardiac arrest occurring in about 50% of the affected family members before the age of 60 years. Genetic analysis appeared to be the only means to identify family members at risk, carrying lethal changes in their DNA that presumably involve the DPP6-gene. Patients who survive a premature sudden cardiac arrest and relatives of patients who died prematurely from sudden cardiac arrest should be referred to a cardiogenetics outpatient clinic. Timely recognition of persons affected allows appropriate treatment and may implicate an implantable cardioverter defibrillator.

摘要

我们描述了来自荷兰中部一个地区的3名患者,他们有几名亲属因心脏骤停而过早死亡。这些过早死亡似乎是由一种独特的家族性猝死综合征引起的。除了约50%的受影响家庭成员在60岁之前发生过早的心脏骤停外,这些患者及其亲属在进一步检查中未表现出任何可区分的体征、症状或异常。基因分析似乎是识别有风险家庭成员的唯一方法,这些家庭成员的DNA携带可能涉及DPP6基因的致命变化。经历过早心脏骤停存活的患者以及因心脏骤停而过早死亡患者的亲属应被转诊至心脏遗传学门诊。及时识别受影响的人可进行适当治疗,并可能意味着植入式心脏复律除颤器的使用。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验