先天性长QT综合征的患病率
Peter J Schwartz1, Marco Stramba-Badiale, Lia Crotti
1Department of Lung, Blood, and Heart, University of Pavia, Pavia, Italy. peter.schwartz@unipv.it
Circulation
|October 21, 2009
概括
这项研究确定了新生儿中长QT综合征 (LQTS) 的患病率,发现它至少影响2534名白人婴儿中的1名. 早期的心电图和基因查可以识别受影响的婴儿和亲属,以提供预防性护理.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 遗传性心律失常性疾病,如长QT综合征 (LQTS) 的患病率尚未确立.
- 之前的LQTS患病率估计缺乏经验数据.
研究的目的:
- 建立基于数据的LQTS在新生儿中的流行率.
- 调查ECG和基因查对LQTS检测的有用性.
主要方法:
- 对44596名婴儿进行了心电图查.
- 对长时间纠正QT间隔 (QTc) 的婴儿进行基因分析.
- 基于已识别的突变和临床诊断计算的LQTS流行率.
主要成果:
- 在43080名白种婴儿中,确定了17名白种婴儿患有LQTS,其患病率至少为1:2534.
- 在43%的QTc>470毫秒的婴儿和29%的QTc 461-470毫秒的婴儿中发现了引起疾病的突变.
- 51%的基因型阳性婴儿的亲属携带致病突变.
结论:
- 这项研究提供了第一个基于数据的白色新生儿LQTS流行率估计.
- 估计的患病率表明,LQTS可能比以前认为的更常见,可能在1:2000左右.
- 以心电图为指导的基因查有效地识别了受影响的婴儿及其家属,从而实现了预防策略.
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