• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

西酞普兰与KCNE1 D85N变体:关于一种基因修饰剂影响的病例报告

Citalopram and the KCNE1 D85N variant: a case report on the implications of a genetic modifier.

作者信息

Marstrand Peter, Christensen Alex Hørby, Bartels Emil Daniel, Theilade Juliane

机构信息

Department of Cardiology, Herlev-Gentofte Hospital, University Hospital Copenhagen, Herlev Ringvej 75, Copenhagen, Denmark.

Department of Cardiology, Rigshospitalet, University Hospital Copenhagen, Denmark.

出版信息

Eur Heart J Case Rep. 2018 Sep 26;2(4):yty106. doi: 10.1093/ehjcr/yty106. eCollection 2018 Dec.

DOI:10.1093/ehjcr/yty106
PMID:31020182
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6426086/
Abstract

BACKGROUND

Prolongation of the QT interval on the electrocardiogram is clinically important due to the association with an increased risk of sudden cardiac death. A long QT interval may be genetically determined (congenital long QT syndrome) or be drug-induced long QT syndrome e.g. caused by pharmaceutical drugs and electrolyte imbalances.

CASE SUMMARY

In this report, we describe the case a 54-year-old woman, who presented with syncope. At presentation, the QTc interval was markedly prolonged, and she was admitted for observation under telemetry. The following day the patient had experienced a near syncope during an episode of 18 s of Torsade de Pointes (TdP). At the time of TdP, the potassium level (3.4 mmol/L) was mildly reduced, and the ECG showed a QTc interval of 640 ms. In spite of correction of hypokalaemia and discontinuation of the possibly LQTS-inducing drug citalopram the QTc duration remained intermittently prolonged. A transthoracic echocardiogram and a recent coronary angiogram were normal. The patient received an implantable cardioverter-defibrillator. Subsequent genetic testing identified a heterozygous KCNE1 p.D85N (c.253G>A) variant, a known QT modifier with a population prevalence of 1.3%.

DISCUSSION

We conclude that the combination of a commonly prescribed antidepressant, discrete hypokalaemia, and a common KCNE1 QT modifier may cause severe QTc prolongation and life-threatening arrhythmia.

摘要

背景

心电图上QT间期延长具有临床重要性,因为它与心脏性猝死风险增加相关。长QT间期可能由遗传决定(先天性长QT综合征),或由药物引起的长QT综合征,例如由药物和电解质失衡导致。

病例摘要

在本报告中,我们描述了一名54岁女性患者,她因晕厥就诊。就诊时,QTc间期明显延长,她被收入院进行遥测观察。第二天,患者在一次持续18秒的尖端扭转型室性心动过速(TdP)发作期间发生了近似晕厥。在TdP发作时,血钾水平(3.4 mmol/L)轻度降低,心电图显示QTc间期为640毫秒。尽管纠正了低钾血症并停用了可能诱发长QT综合征的药物西酞普兰,但QTc时长仍间歇性延长。经胸超声心动图和近期冠状动脉造影检查均正常。患者接受了植入式心脏复律除颤器。随后的基因检测发现了一个杂合的KCNE1 p.D85N(c.253G>A)变异,这是一种已知的QT修饰因子,在人群中的患病率为1.3%。

讨论

我们得出结论,一种常用的抗抑郁药、轻微低钾血症和一种常见的KCNE1 QT修饰因子相结合,可能会导致严重的QTc延长和危及生命的心律失常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a17e/6426086/b9adc30e6100/yty106f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a17e/6426086/64203cf0c51e/yty106f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a17e/6426086/b9adc30e6100/yty106f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a17e/6426086/64203cf0c51e/yty106f1a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a17e/6426086/b9adc30e6100/yty106f2.jpg

相似文献

1
Citalopram and the KCNE1 D85N variant: a case report on the implications of a genetic modifier.西酞普兰与KCNE1 D85N变体:关于一种基因修饰剂影响的病例报告
Eur Heart J Case Rep. 2018 Sep 26;2(4):yty106. doi: 10.1093/ehjcr/yty106. eCollection 2018 Dec.
2
Long QT syndrome type 5-Lite: Defining the clinical phenotype associated with the potentially proarrhythmic p.Asp85Asn-KCNE1 common genetic variant.长 QT 综合征 5 型-Lite:定义与潜在致心律失常的 p.Asp85Asn-KCNE1 常见遗传变异相关的临床表型。
Heart Rhythm. 2018 Aug;15(8):1223-1230. doi: 10.1016/j.hrthm.2018.03.038. Epub 2018 Apr 3.
3
Citalopram induced torsade de pointes, a rare life threatening side effect.西酞普兰诱发尖端扭转型室速,这是一种罕见的危及生命的副作用。
Int J Cardiol. 2008 Dec 17;131(1):e33-4. doi: 10.1016/j.ijcard.2007.08.006. Epub 2007 Oct 4.
4
KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?KCNE1 D85N 多态性——1 型长 QT 综合征的性别特异性修饰因子?
BMC Med Genet. 2011 Jan 18;12:11. doi: 10.1186/1471-2350-12-11.
5
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.D85N是一种KCNE1基因多态性,是长QT综合征中的一种致病基因变异。
J Am Coll Cardiol. 2009 Aug 25;54(9):812-9. doi: 10.1016/j.jacc.2009.06.005.
6
Proarrhythmic risk with antipsychotic and antidepressant drugs: implications in the elderly.抗精神病药和抗抑郁药的致心律失常风险:老年人的影响。
Drugs Aging. 2009;26(12):997-1012. doi: 10.2165/11318880-000000000-00000.
7
First episode of ventricular fibrillation in an 84-year-old man with long-QT type 2 syndrome: A case report.一名84岁长QT2型综合征男性患者首次发生心室颤动:病例报告。
J Cardiol Cases. 2020 Aug 17;22(6):257-259. doi: 10.1016/j.jccase.2020.07.012. eCollection 2020 Dec.
8
Application of Electromechanical Window Negativity as an Arrhythmia Risk Correlate in Acquired Long QT Syndrome.机电窗负值在获得性长QT综合征中作为心律失常风险相关因素的应用
JACC Case Rep. 2021 Sep 15;3(12):1427-1433. doi: 10.1016/j.jaccas.2021.07.015.
9
Development of a Patient-Specific p.D85N-Potassium Voltage-Gated Channel Subfamily E Member 1-Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for Drug-Induced Long QT Syndrome.用于药物诱导长 QT 综合征的患者特异性 p.D85N-钾电压门控通道亚家族 E 成员 1 诱导多能干细胞衍生心肌细胞模型的开发。
Circ Genom Precis Med. 2021 Jun;14(3):e003234. doi: 10.1161/CIRCGEN.120.003234. Epub 2021 May 18.
10
Drug-induced QT-interval prolongation and recurrent torsade de pointes in a child with heterotaxy syndrome and KCNE1 D85N polymorphism.一名患有内脏异位综合征及KCNE1基因D85N多态性的儿童出现药物诱导的QT间期延长及反复发作的尖端扭转型室速
J Electrocardiol. 2012 Nov-Dec;45(6):770-3. doi: 10.1016/j.jelectrocard.2012.07.013. Epub 2012 Sep 20.

引用本文的文献

1
The genetics of drug-induced QT prolongation: evaluating the evidence for pharmacodynamic variants.药物引起的 QT 间期延长的遗传学:评估药效动力学变异的证据。
Pharmacogenomics. 2022 Jun;23(9):543-557. doi: 10.2217/pgs-2022-0027. Epub 2022 Jun 14.

本文引用的文献

1
2015 ESC Guidelines for the Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death.2015年欧洲心脏病学会室性心律失常管理和心脏性猝死预防指南
Rev Esp Cardiol (Engl Ed). 2016 Feb;69(2):176. doi: 10.1016/j.rec.2016.01.001.
2
The genetics underlying acquired long QT syndrome: impact for genetic screening.获得性长QT综合征的遗传学基础:对基因筛查的影响
Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695. Epub 2015 Dec 28.
3
Genetics of long QT syndrome.长QT综合征的遗传学
Methodist Debakey Cardiovasc J. 2014 Jan-Mar;10(1):29-33. doi: 10.14797/mdcj-10-1-29.
4
Antidepressant use and risk of out-of-hospital cardiac arrest: a nationwide case-time-control study.抗抑郁药的使用与院外心脏骤停风险:一项全国范围内的病例时间对照研究。
Clin Pharmacol Ther. 2012 Jul;92(1):72-9. doi: 10.1038/clpt.2011.368. Epub 2012 May 16.
5
A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.一项大型候选基因研究确定KCNE1基因D85N多态性可能是药物诱导的尖端扭转型室速的一个调节因素。
Circ Cardiovasc Genet. 2012 Feb 1;5(1):91-9. doi: 10.1161/CIRCGENETICS.111.960930. Epub 2011 Nov 18.
6
Role of implantable cardioverter defibrillator therapy in patients with acquired long QT syndrome: a long-term follow-up.植入式心脏复律除颤器治疗获得性长 QT 综合征患者的作用:长期随访。
Europace. 2012 Mar;14(3):396-401. doi: 10.1093/europace/eur316. Epub 2011 Oct 6.
7
Who are the long-QT syndrome patients who receive an implantable cardioverter-defibrillator and what happens to them?: data from the European Long-QT Syndrome Implantable Cardioverter-Defibrillator (LQTS ICD) Registry.谁是植入式心脏复律除颤器的长 QT 综合征患者,他们会发生什么情况?:来自欧洲长 QT 综合征植入式心脏复律除颤器(LQTS ICD)登记处的数据。
Circulation. 2010 Sep 28;122(13):1272-82. doi: 10.1161/CIRCULATIONAHA.110.950147. Epub 2010 Sep 13.
8
Implantable cardioverter defibrillator therapy for congenital long QT syndrome: a single-center experience.植入型心律转复除颤器治疗先天性长 QT 综合征:单中心经验。
Heart Rhythm. 2010 Nov;7(11):1616-22. doi: 10.1016/j.hrthm.2010.08.023. Epub 2010 Sep 17.
9
Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.药物诱导性长QT综合征的潜在遗传背景与分子发病机制
Circ Arrhythm Electrophysiol. 2009 Oct;2(5):511-23. doi: 10.1161/CIRCEP.109.862649. Epub 2009 Aug 2.
10
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.D85N是一种KCNE1基因多态性,是长QT综合征中的一种致病基因变异。
J Am Coll Cardiol. 2009 Aug 25;54(9):812-9. doi: 10.1016/j.jacc.2009.06.005.