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因SCN5A基因新突变导致的长QT综合征:1个月时植入植入式心律转复除颤器(ICD),3个月时行左侧心脏交感神经去神经术治疗。

Long QT syndrome due to a novel mutation in SCN5A: treatment with ICD placement at 1 month and left cardiac sympathetic denervation at 3 months of age.

作者信息

Silver Eric S, Liberman Leonardo, Chung Wendy K, Spotnitz Henry M, Chen Jonathan M, Ackerman Michael J, Moir Christopher, Hordof Allan J, Pass Robert H

机构信息

Department of Pediatrics, NY Presbyterian Hospital-Columbia University, New York, NY, USA.

出版信息

J Interv Card Electrophysiol. 2009 Oct;26(1):41-5. doi: 10.1007/s10840-009-9428-1. Epub 2009 Aug 11.

Abstract

We describe the case of a newborn with congenital long QT syndrome, with 2:1 AV block and frequent episodes of Torsades de Pointes (TdP) requiring placement of a dual chamber ICD at 33 days and 3.63 kg, the youngest and smallest patient, thus far reported. Long QT syndrome was diagnosed due to bradycardia in the newborn nursery, with frequent episodes of TdP. The patient was initially treated with magnesium and esmolol then given lidocaine which resulted in dramatic transient normalization of the QTc with 1:1 AV nodal conduction. An attempt to transition to oral sodium channel and beta blockade was unsuccessful. An ICD was placed and dual chamber pacing was initiated which facilitated the transition to an oral medical regimen and ultimate discharge from the hospital. Soon after placement of the ICD, genetic testing revealed a novel F1473C mutation in the SCN5A gene. Episodes of TdP continued and left stellate gangliectomy was performed at 3 months of age. At 30 months follow-up, the patient has occasional, self-limited episodes of TdP and has received rare, successful, and appropriate ICD shocks.

摘要

我们描述了一名患有先天性长QT综合征的新生儿病例,该患儿存在2:1房室传导阻滞且频发尖端扭转型室性心动过速(TdP),在33日龄、体重3.63千克时植入了双腔植入式心律转复除颤器(ICD),是迄今为止报道的最年幼、体重最轻的患者。长QT综合征因新生儿重症监护室中的心动过缓及频发TdP发作而被诊断。患者最初接受了镁剂和艾司洛尔治疗,随后给予利多卡因,使QTc显著短暂恢复正常并伴有1:1房室结传导。尝试过渡到口服钠通道阻滞剂和β受体阻滞剂未成功。植入了ICD并启动双腔起搏,这有助于过渡到口服药物治疗方案并最终出院。ICD植入后不久,基因检测显示SCN5A基因存在一种新的F1473C突变。TdP发作仍持续,患儿在3月龄时接受了左侧星状神经节切除术。在30个月的随访中,患者偶尔出现自限性TdP发作,且接受过罕见、成功且恰当的ICD电击治疗。

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