Long QT syndrome in neonates -: Conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations
Long QT syndrome in neonates -: Conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations
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DOI：
10.1016/j.jacc.2003.09.049
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发表时间：
2004-03-03
影响因子：
24
通讯作者：
Guicheney, P
中科院分区：
文献类型：
--
作者：
Lupoglazoff, JM;Denjoy, I;Guicheney, P
我们假设新生儿长QT综合征（LQTS）伴2：1房室传导阻滞（AVB）可能与HERG突变有关。背景LQTS的早期发作是罕见的，但具有高风险的危及生命的事件，如室性心律失常和传导障碍。没有数据可能的基因specificity.METHODS我们分析了23个新生儿先证者从我们的LQTS人口的特点和结果。结果由于校正QT间期（QTc）延长（平均QTc为558 +/-62 ms）和新生儿心动过缓归因于窦性心动过缓（n = 8）或2：1 AVB（n = 15），诊断为长QT综合征。症状包括晕厥（n = 2）、尖端扭转型室性心动过速（n = 7）和血流动力学衰竭（n = 6）。3名2：1 AVB婴儿在出生后第一个月内死亡。在新生儿期，所有存活患者均接受了β受体阻滞剂（1313例），13例患者接受了BB和永久性心脏起搏的联合治疗。在治疗过程中，患者保持无症状，平均随访时间为7年。在HERG（n = 8）和KCNQ1（n = 8）中发现了突变，其中一名儿童有三种突变（HERG，KCNQ1和SCN 5A）。传导障碍与LQT2相关，而窦性心动过缓与LQT1相关。结论2：1 AVB似乎优先与HERG突变相关，无论是单独突变还是联合突变。长QT综合征伴2：1 AVB引起的相对心动过缓在出生后第一个月内预后不良。相比之下，窦性心动过缓似乎与KCNQ1突变有关，在BB治疗下具有良好的短期预后。(C)2004年，美国心脏病学会基金会。
OBJECTIVES We hypothesized that neonatal long QT syndrome (LQTS) with 2:1 atrioventricular block (AVB) could be related to HERG mutations.BACKGROUND Early onset of LQTS is rare but carries a high risk of life-threatening events such as ventricular arrhythmias and conduction disorders. There are no data on possible gene specificity.METHODS We analyzed the characteristics and outcomes of 23 neonate probands from our LQTS population. Samples of DNA were available in 18 cases.RESULTS Long QT syndrome was diagnosed because of corrected QT interval (QTc) prolongation (mean QTc of 558 +/- 62 ms) and neonatal bradycardia attributable to sinus bradycardia (n = 8) or 2:1 AVB (n = 15). Symptoms included syncope (n = 2), torsades de pointes (n 7), and hemodynamic failure (n = 6). Three infants with 2:1 AVB died during the first month of life. During the neonatal period, all living patients received beta-blockers (1313) and 13 had a combination of BB and permanent cardiac pacing. Under treatment, patients remained asymptomatic, with a mean follow-up of seven years. Mutations were identified in HERG (n = 8) and KCNQ1 (n = 8), and one child had three mutations (HERG, KCNQ1, and SCN5A). Conduction disorders were associated with LQT2, whereas sinus bradycardia was associated with LQT1.CONCLUSIONS Two-to-one AVB seems preferentially associated with HERG mutations, either isolated or combined. Long QT syndrome with relative bradycardia attributable to 2:1 AVB has a poor prognosis during the first month of life. In contrast, sinus bradycardia seems to be associated with KCNQ1 mutations, with a good short-term prognosis under BB therapy. (C) 2004 by the American College of Cardiology Foundation.