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长QT综合征：一名心动过缓新生儿中出现的LQT3变异型

Long QT Syndrome: LQT3 Variant Presenting in a Bradycardic Newborn.

作者信息

Afonso Catarina, Mendes Débora A, Queirós Rita V, Serra Catarina M, Laranjo Sérgio

机构信息

Family Medicine, USF (Unidade de Saúde Familiar) Afonsoeiro, Unidade Local de Saúde do Arco Ribeirinho, Montijo, PRT.

Pediatrics, Unidade Local de Saúde do Médio Tejo, Torres Novas, PRT.

出版信息

Cureus. 2024 Dec 26;16(12):e76430. doi: 10.7759/cureus.76430. eCollection 2024 Dec.

DOI:10.7759/cureus.76430
PMID:39866993
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11763414/
Abstract

Long QT Syndrome (LQTS) is a rare hereditary canalopathy, characterized by prolonged ventricular repolarization, which can lead to malignant tachyarrhythmias at a young age. Treatment typically involves healthy lifestyle changes and β-blocker therapy. In specific cases, the implantation of an implantable cardioverter defibrillator (ICD) can be an option. In this report, we present the case of a newborn presenting with bradycardia in his initial screening examination, who was subsequently diagnosed with LQTS, specifically variant LQT3, a rare finding.

摘要

长QT综合征（LQTS）是一种罕见的遗传性离子通道病，其特征为心室复极延长，可导致年轻人发生恶性快速性心律失常。治疗通常包括健康生活方式的改变和β受体阻滞剂治疗。在特定情况下，植入式心脏复律除颤器（ICD）植入也可作为一种选择。在本报告中，我们介绍了一例新生儿在初次筛查检查时出现心动过缓，随后被诊断为LQTS，具体为罕见的LQT3型变异的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20bc/11763414/278876d84cb5/cureus-0016-00000076430-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20bc/11763414/442e4c08d282/cureus-0016-00000076430-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20bc/11763414/278876d84cb5/cureus-0016-00000076430-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20bc/11763414/442e4c08d282/cureus-0016-00000076430-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20bc/11763414/278876d84cb5/cureus-0016-00000076430-i02.jpg

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本文引用的文献

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CONGENITAL LONG QT SYNDROME: A SYSTEMATIC REVIEW.先天性长 QT 综合征：系统评价。
Acta Clin Croat. 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22.
2
Diagnosis, management and therapeutic strategies for congenital long QT syndrome.先天性长 QT 综合征的诊断、管理和治疗策略。
Heart. 2022 Mar;108(5):332-338. doi: 10.1136/heartjnl-2020-318259. Epub 2021 May 26.
3
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.先天性长 QT 综合征的遗传和临床特征与日本患者的致命性心律失常的关系。
JAMA Cardiol. 2019 Mar 1;4(3):246-254. doi: 10.1001/jamacardio.2018.4925.
4
Clinical and genetic profile of congenital long QT syndrome in Hong Kong: a 20-year experience in paediatrics.香港先天性长QT综合征的临床与基因特征：20年儿科经验
Hong Kong Med J. 2018 Dec;24(6):561-570. doi: 10.12809/hkmj187487. Epub 2018 Dec 3.
5
Genetic and clinical advances in congenital long QT syndrome.先天性长QT综合征的遗传学与临床进展
Circ J. 2014;78(12):2827-33. doi: 10.1253/circj.cj-14-0905. Epub 2014 Oct 1.
6
Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.胎儿期心律失常表型提示长 QT 综合征基因型：围产期长 QT 综合征的风险分层。
Circ Arrhythm Electrophysiol. 2013 Oct;6(5):946-51. doi: 10.1161/CIRCEP.113.000618. Epub 2013 Aug 30.
7
Congenital long and short QT syndromes.
Cardiology. 2012;122(4):237-47. doi: 10.1159/000339537. Epub 2012 Aug 14.
8
Congenital long QT syndrome: A case report.先天性长 QT 综合征：病例报告。
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9
Congenital long QT syndrome.先天性长QT综合征
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10
Long QT syndrome and life threatening arrhythmia in a newborn: molecular diagnosis and treatment response.新生儿长QT综合征与危及生命的心律失常：分子诊断与治疗反应
Heart. 2004 Jan;90(1):13-6. doi: 10.1136/heart.90.1.13.