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A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.一名新生儿中发现一种具有独特分子药理学和治疗反应的新型致死性新发LQT-3突变。
PLoS One. 2007 Dec 5;2(12):e1258. doi: 10.1371/journal.pone.0001258.
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Successful parental use of an automated external defibrillator for an infant with long-QT syndrome.患有长QT综合征的婴儿的家长成功使用自动体外除颤器。
Pediatrics. 2006 Aug;118(2):e526-9. doi: 10.1542/peds.2006-0129. Epub 2006 Jun 30.
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A multicenter experience with novel implantable cardioverter defibrillator configurations in the pediatric and congenital heart disease population.小儿及先天性心脏病患者使用新型植入式心脏复律除颤器配置的多中心经验。
J Cardiovasc Electrophysiol. 2006 Jan;17(1):41-6. doi: 10.1111/j.1540-8167.2005.00271.x.
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Implantation of an "extracardiac" internal cardioverter defibrillator in a 6-month-old infant.
Z Kardiol. 2005 Jun;94(6):415-8. doi: 10.1007/s00392-005-0236-z.
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Efficacy of an implantable cardioverter-defibrillator in a neonate with LQT3 associated arrhythmias.植入式心脏复律除颤器对一名患有LQT3相关心律失常的新生儿的疗效。
Europace. 2005 Jan;7(1):77-84. doi: 10.1016/j.eupc.2004.09.007.
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Transcutaneous implantation of an internal cardioverter defibrillator in a small infant with recurrent myocardial ischemia and cardiac arrest simulating sudden infant death syndrome.在一名患有复发性心肌缺血且心脏骤停模拟婴儿猝死综合征的小婴儿中经皮植入体内除颤器。
Pacing Clin Electrophysiol. 2004 Jan;27(1):112-6. doi: 10.1111/j.1540-8159.2004.00397.x.
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[RARE CARDIAC ARRYTHMIAS OF THE PEDIATRIC AGE. II. SYNCOPAL ATTACKS DUE TO PAROXYSMAL VENTRICULAR FIBRILLATION. (PRESENTATION OF 1ST CASE IN ITALIAN PEDIATRIC LITERATURE)].[小儿年龄阶段的罕见心律失常。II. 阵发性心室颤动所致晕厥发作。(意大利儿科学文献中首例病例报告)]
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A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN.一种新的儿童家族性心脏综合征。
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Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death.先天性聋哑、伴有Q-T间期延长的功能性心脏病及猝死。
Am Heart J. 1957 Jul;54(1):59-68. doi: 10.1016/0002-8703(57)90079-0.
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ACC/AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices: summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (ACC/AHA/NASPE Committee to Update the 1998 Pacemaker Guidelines).美国心脏病学会/美国心脏协会/北美心脏起搏与电生理学会2002年心脏起搏器与抗心律失常器械植入指南更新:总结篇:美国心脏病学会/美国心脏协会实践指南工作组(美国心脏病学会/美国心脏协会/北美心脏起搏与电生理学会1998年起搏器指南更新委员会)报告
Circulation. 2002 Oct 15;106(16):2145-61. doi: 10.1161/01.cir.0000035996.46455.09.

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.

DOI:10.1007/s10840-009-9428-1
PMID:19669871
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3332535/
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。