Prenatal diagnosis and in utero treatment of torsaides de Pointes associated with congenital long QT syndrome
Prenatal diagnosis and in utero treatment of torsaides de Pointes associated with congenital long QT syndrome
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DOI：
10.1016/s0002-9149(03)00343-6
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发表时间：
2003-06-01
影响因子：
2.8
通讯作者：
Wakai, RT
中科院分区：
文献类型：
--
作者：
Cuneo, BF;Ovadia, M;Wakai, RT
先天性长QT综合征（LQTS）是一种遗传性心肌复极障碍，由钾、钠离子通道基因突变引起。1 LQTS的产前诊断通常是回顾性的，原因有几个。首先，胎儿超声心动图仅识别电生理事件的机械后果，2并且胎儿心电图不能提供足够质量的临床应用描记。其次，携带LQTS突变的母亲，其后代患LQTS的风险增加，其基线心电图上的QTc间期可能正常。最后，胎儿LQTS的典型表现是无症状和轻度窦性心动过缓，心率等于或略低于正常。4-8罕见的表现是二度房室传导阻滞和室性心动过速导致充血性心力衰竭。4，9-11我们描述了一个水肿胎儿的诊断和治疗持续性室性心动过速和房室传导阻滞。基于QTc延长和尖端扭转型室性心动过速，通过胎儿心磁图诊断LQTS。本病例研究强调了在子宫内发现心律失常的罕见情况下产前诊断LQTS的重要性，必须明确诊断以提供适当的治疗。
Congenital long QT syndrome (LQTS) is an inherited disorder of myocardial repolarization resulting from gene mutations in potassium and sodium ion channels. 1 The prenatal diagnosis of LQTS is often retrospective for several reasons. First, fetal echocardiography identifies only the mechanical consequences of electrophysiologic events, 2 and fetal electrocardiograms do not provide tracings of adequate quality for clinical application. Second, mothers with the LQTS mutation whose offspring are at increased risk for LQTS may have normal QTc intervals on the baseline electrocardiogram. 3 Finally, the typical presentation of fetal LQTS is asymptomatic and mild sinus bradycardia at rates at or barely below normal. 4–8 A rare presentation is second-degree atrioventricular block and ventricular tachycardia leading to congestive heart failure. 4, 9–11 We describe the diagnosis and treatment of a hydropic fetus with sustained ventricular tachycardia and atrioventricular block. LQTS was diagnosed by fetal magnetocardiography based on QTc prolongation and Torsades de Pointes. This case study underscores the importance of the prenatal diagnosis of LQTS in the uncommon circumstance in which arrhythmias are identified in utero and the diagnosis must be clarified to provide proper therapy.