A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death
A family with a new elastin gene mutation: broad clinical spectrum, including sudden cardiac death
复制标题
DOI：
10.1017/s1047951110001563
复制
发表时间：
2011-02-01
影响因子：
1
通讯作者：
Stiller, Brigitte
中科院分区：
文献类型：
--
作者：
Jakob, Andre;Unger, Sheila;Stiller, Brigitte
瓣上主动脉狭窄与Williams-Beuren综合征有关，但它也以非综合征的先天性形式发生。在这两种情况下，染色体7q11.23的弹性蛋白基因突变是负责任的。血管特征是相同的。这些患者有较高的猝死风险，特别是在接受诊断或外科手术时。我们报告了一个家庭与弹性蛋白基因的新突变的帐户。经过三代人的筛查，发现了8个受影响的个体。心脏和血管畸形包括轻度无症状的瓣上主动脉狭窄和孤立的房室瓣膜发育不良到弥漫性动脉发育不全。两名婴儿的动脉在多个部位受到影响，包括左冠状动脉。两人均死于心源性猝死和心肌缺血，其中一人在全身麻醉下进行心导管插管，另一人则在围手术期死亡。我们讨论的病理生理方面，在这些患者值得考虑的任何全身麻醉前进行管理。
Supravalvular aortic stenosis is associated with the Williams-Beuren syndrome, but it also occurs in a non-syndromatic congenital form. An elastin gene mutation of chromosome 7q11.23 is responsible in both cases. The vascular features are identical. These patients have a higher risk of sudden death, particularly when undergoing diagnostic or surgical procedures. We report the account of a family with a new mutation in the elastin gene. Screening over three generations revealed eight affected individuals. The cardiac and vascular malformations ranged from mild asymptomatic supravalvular aortic stenosis and isolated dysplastic atrioventricular valves to diffuse arterial hypoplasia. Two infants presented arteries affected at multiple locations, including the left coronary artery. Both died of sudden cardiac death and myocardial ischaemia, one while under general anaesthesia for cardiac catheterisation, and the other perioperatively. We discuss the pathophysiological aspects in these patients that deserve consideration before any general anaesthesia is administered.