自体递归长QT综合征:临床方面和治疗方法
Daniela Righi1, Luigina Porco2, Corrado Di Mambro2
1Cardiac Arrhythmias Complex Unit, Department of Pediatric Cardiology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. daniela.righi@opbg.net.
Pediatric cardiology
|August 19, 2023
概括
分析了自体逆性长QT综合征 (AR LQTS) 患者,包括患有Jervell和Lange-Nielsen综合征的患者. 纳多洛尔和梅克西莱丁的治疗在减少QTc和T波交替性方面表现出有效性,改善了结果.
科学领域:
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
- 儿科 儿科 儿科
背景情况:
- 自体逆性 (AR) 长QT综合征 (LQTS) 呈现与或没有聋 (Jervell和Lange-Nielsen综合征).
- 了解AR LQTS的特征和治疗疗效对于儿科心脏护理至关重要.
研究的目的:
- 为了描述AR LQTS的儿科患者.
- 在这个队列中评估纳多洛尔和梅克西莱丁治疗的疗效.
主要方法:
- 儿童AR LQTS患者从Bambino Gesù儿童医院进行的回顾性分析 (2012年9月至2021年9月).
- 数据包括遗传变异 (同卵性与复合异卵性),耳聋的存在,临床表现 (昏迷,心脏突发死亡 - aSCD) 和QTc间隔.
- 治疗干预包括纳多洛尔和,在某些情况下,Mexiletine.
主要成果:
- 确定了10名AR LQTS患者;70%患有同卵性KCNQ1变体和聋 (JLN).
- 40%的人经历过心脏突发死亡 (aSCD),更常见的是那些有复合异合体变体和没有聋 (WD) 的人.
- 在接受治疗的患者中,添加Nadolol的Mexiletine缩短了QTc,并消除了T波交替 (TWA).
结论:
- aSCD在AR LQTS患者中更频繁地出现,这些患者具有复合异合体变体和WD,以及昏迷或QTc> 600毫秒的患者.
- 纳多洛尔与Mexiletine结合,通过降低QTc和TWA显示出治疗潜力.
- 需要进行更大规模的研究来证实在儿科ARLQTS管理中的这些发现.
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