• 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

在一名因E1784K SCN5A突变导致重叠综合征的患者中，吡西卡尼给药揭示了 Brugada 综合征的一种表型。

Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation.

作者信息

Hasebe Hideyuki, Yokoya Tomoyo, Murakoshi Nobuyuki, Kurebayashi Nobutake

机构信息

Division of Arrhythmology, Shizuoka Saiseikai General Hospital, Japan.

Cardiovascular Division, Faculty of Medicine, University of Tsukuba, Japan.

出版信息

Intern Med. 2020 Jan 1;59(1):83-87. doi: 10.2169/internalmedicine.3430-19. Epub 2019 Sep 3.

DOI:10.2169/internalmedicine.3430-19
PMID:31484910
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6995720/
Abstract

Mutations in the cardiac sodium channel SCN5A can cause phenotypic overlap syndrome of long QT syndrome and Brugada syndrome. However, Brugada-type ST elevations in patients with overlap syndrome are often concealed, which creates a diagnostic challenge. A 38-year-old man was admitted due to ventricular fibrillation (VF). The 12-lead electrocardiogram showed a prolonged QT interval and saddleback-type ST elevation. Pilsicainide administration induced coved-type ST elevation and VF triggered by a single premature ventricular contraction. A genetic analysis showed an SCN5A c.5350G>A p.E1784K mutation. The present case suggests the importance of a drug administration test being performed in the clinical management of overlap syndrome.

摘要

心脏钠通道SCN5A的突变可导致长QT综合征和Brugada综合征的表型重叠综合征。然而，重叠综合征患者的Brugada型ST段抬高常被隐匿，这给诊断带来了挑战。一名38岁男性因室颤（VF）入院。12导联心电图显示QT间期延长和鞍背型ST段抬高。给予吡西卡尼后诱发了穹窿型ST段抬高和由单个室性早搏触发的室颤。基因分析显示存在SCN5A c.5350G>A p.E1784K突变。本病例提示在重叠综合征的临床管理中进行药物激发试验的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/e01bd3326c5a/1349-7235-59-0083-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/bf0b47a816fa/1349-7235-59-0083-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/3153f06fd6e7/1349-7235-59-0083-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/e3ac77a37979/1349-7235-59-0083-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/e01bd3326c5a/1349-7235-59-0083-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/bf0b47a816fa/1349-7235-59-0083-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/3153f06fd6e7/1349-7235-59-0083-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/e3ac77a37979/1349-7235-59-0083-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8b13/6995720/e01bd3326c5a/1349-7235-59-0083-g004.jpg

相似文献

1
Pilsicainide Administration Unmasks a Phenotype of Brugada Syndrome in a Patient with Overlap Syndrome due to the E1784K SCN5A Mutation.在一名因E1784K SCN5A突变导致重叠综合征的患者中，吡西卡尼给药揭示了 Brugada 综合征的一种表型。
Intern Med. 2020 Jan 1;59(1):83-87. doi: 10.2169/internalmedicine.3430-19. Epub 2019 Sep 3.
2
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.对导致长QT综合征、Brugada综合征和传导缺陷重叠表型的最常见SCN5A突变的进一步见解。
J Am Heart Assoc. 2016 Jul 5;5(7):e003379. doi: 10.1161/JAHA.116.003379.
3
Systematic ajmaline challenge in patients with long QT 3 syndrome caused by the most common mutation: a multicentre study.长 QT3 综合征患者中最常见突变所致阿马林系统激发试验：一项多中心研究。
Europace. 2017 Oct 1;19(10):1723-1729. doi: 10.1093/europace/euw214.
4
A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.一种与药物诱导的Brugada型心电图相关的新型SCN5A突变。
PLoS One. 2016 Aug 25;11(8):e0161872. doi: 10.1371/journal.pone.0161872. eCollection 2016.
5
Elevated oxidative stress is associated with ventricular fibrillation episodes in patients with Brugada-type electrocardiogram without SCN5A mutation.氧化应激升高与 Brugada 型心电图而无 SCN5A 突变患者的心室颤动发作有关。
Cardiovasc Pathol. 2011 Jan-Feb;20(1):e37-42. doi: 10.1016/j.carpath.2010.02.002. Epub 2010 Mar 12.
6
Flecainide provocation reveals concealed brugada syndrome in a long QT syndrome family with a novel L1786Q mutation in SCN5A.氟卡尼激发试验揭示了一个长QT综合征家族中隐匿性Brugada综合征，该家族的SCN5A基因存在一种新的L1786Q突变。
Circ J. 2014;78(5):1136-43. doi: 10.1253/circj.cj-13-1167. Epub 2014 Mar 6.
7
Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.SCN5A 基因突变的临床表型：长 QT 综合征、Brugada 综合征和心肌病。
JACC Clin Electrophysiol. 2018 May;4(5):569-579. doi: 10.1016/j.jacep.2018.03.006. Epub 2018 May 2.
8
Dual phenotypic transmission in Brugada syndrome.Brugada 综合征的双重表型传递。
Arch Cardiovasc Dis. 2013 Jun-Jul;106(6-7):366-72. doi: 10.1016/j.acvd.2013.04.007. Epub 2013 Jun 28.
9
Utility of 12-lead and signal-averaged Holter electrocardiograms after pilsicainide provocation for risk stratification in Brugada syndrome.吡西卡尼激发试验后12导联及信号平均动态心电图在 Brugada 综合征危险分层中的应用价值。
Heart Vessels. 2017 Sep;32(9):1151-1159. doi: 10.1007/s00380-017-0973-8. Epub 2017 Mar 31.
10
[Brugada syndrome occurring in an identical twin: a case report].
J Cardiol. 2002 Sep;40(3):111-5.

引用本文的文献

1
A case report of a young patient with both Brugada and long QT3 syndrome: between the hammer and the anvil.一名同时患有布加综合征和长QT3综合征的年轻患者的病例报告：腹背受敌。
Eur Heart J Case Rep. 2021 Mar 22;5(3):ytab053. doi: 10.1093/ehjcr/ytab053. eCollection 2021 Mar.
2
Early Morning QT Prolongation During Hypoglycemia: Only a Matter of Glucose?低血糖期间的清晨QT间期延长：仅仅是血糖的问题吗？
Front Cardiovasc Med. 2021 May 11;8:688875. doi: 10.3389/fcvm.2021.688875. eCollection 2021.

本文引用的文献

1
Brugada syndrome and sinus node dysfunction.Brugada综合征与窦房结功能障碍。
J Arrhythm. 2018 Mar 26;34(3):216-221. doi: 10.1002/joa3.12046. eCollection 2018 Jun.
2
Depolarization of the conductance-voltage relationship in the NaV1.5 mutant, E1784K, is due to altered fast inactivation.钠通道蛋白1.5（NaV1.5）突变体E1784K中电导-电压关系的去极化是由于快速失活的改变。
PLoS One. 2017 Sep 12;12(9):e0184605. doi: 10.1371/journal.pone.0184605. eCollection 2017.
3
Implant and Midterm Outcomes of the Subcutaneous Implantable Cardioverter-Defibrillator Registry: The EFFORTLESS Study.
皮下植入式心脏复律除颤器注册研究的植入和中期结果：EFFORTLESS 研究。
J Am Coll Cardiol. 2017 Aug 15;70(7):830-841. doi: 10.1016/j.jacc.2017.06.040.
4
Lidocaine attenuation testing: An in vivo investigation of putative LQT3-associated variants in the SCN5A-encoded sodium channel.利多卡因衰减测试：对SCN5A编码的钠通道中假定的LQT3相关变体的体内研究。
Heart Rhythm. 2017 Aug;14(8):1173-1179. doi: 10.1016/j.hrthm.2017.04.020. Epub 2017 Apr 13.
5
Embryonic type Na channel β-subunit, SCN3B masks the disease phenotype of Brugada syndrome.胚胎型钠通道β亚基SCN3B掩盖了Brugada综合征的疾病表型。
Sci Rep. 2016 Sep 28;6:34198. doi: 10.1038/srep34198.
6
Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.对导致长QT综合征、Brugada综合征和传导缺陷重叠表型的最常见SCN5A突变的进一步见解。
J Am Heart Assoc. 2016 Jul 5;5(7):e003379. doi: 10.1161/JAHA.116.003379.
7
Novel Clinical Manifestation of the Known SCN5A D1790G Mutation.已知SCN5A基因D1790G突变的新临床表现。
Cardiology. 2015;132(4):228-32. doi: 10.1159/000437089. Epub 2015 Aug 15.
8
Effectiveness of implantation of a subcutaneous implantable cardioverter-defibrillator in a patient with complete heart block and a pacemaker.皮下植入式心脏复律除颤器在一名完全性心脏传导阻滞且植入起搏器患者中的植入效果。
Am J Cardiol. 2015 Jan 15;115(2):276-8. doi: 10.1016/j.amjcard.2014.10.036. Epub 2014 Oct 31.
9
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.
10
High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.生活在冲绳岛的长QT综合征学龄儿童中SCN5A基因E1784K突变的高患病率。
Circ J. 2014;78(8):1974-9. doi: 10.1253/circj.cj-13-1516. Epub 2014 May 28.