• 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

Takotsubo cardiomyopathy and Brugada syndrome in a patient with a novel loss-of-function variant in the cardiac sodium channel Na1.5.

作者信息

Frederiksen Tanja Charlotte, Calloe Kirstine, Geryk Michelle, Jensen Henrik Kjærulf

机构信息

Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark.

Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.

出版信息

HeartRhythm Case Rep. 2022 Feb 4;8(5):325-329. doi: 10.1016/j.hrcr.2022.01.017. eCollection 2022 May.

DOI:10.1016/j.hrcr.2022.01.017
PMID:35607336
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9123313/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/220e244071ec/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/a4dac4523a33/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/9e33bdb7c203/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/220e244071ec/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/a4dac4523a33/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/9e33bdb7c203/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6ee8/9123313/220e244071ec/gr3.jpg

相似文献

1
Takotsubo cardiomyopathy and Brugada syndrome in a patient with a novel loss-of-function variant in the cardiac sodium channel Na1.5.一名患有心脏钠通道Na1.5新型功能丧失变异的患者出现应激性心肌病和Brugada综合征。
HeartRhythm Case Rep. 2022 Feb 4;8(5):325-329. doi: 10.1016/j.hrcr.2022.01.017. eCollection 2022 May.
2
Mechanistic insights into the interaction of the MOG1 protein with the cardiac sodium channel Na1.5 clarify the molecular basis of Brugada syndrome.对 MOG1 蛋白与心脏钠离子通道 Na1.5 相互作用的机制研究阐明了 Brugada 综合征的分子基础。
J Biol Chem. 2018 Nov 23;293(47):18207-18217. doi: 10.1074/jbc.RA118.003997. Epub 2018 Oct 3.
3
Variant Intronic Enhancer Controls Expression and Heart Conduction.变异内含子增强子控制表达和心脏传导。
Circulation. 2021 Jul 20;144(3):229-242. doi: 10.1161/CIRCULATIONAHA.121.054083. Epub 2021 Apr 29.
4
Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.1型强直性肌营养不良模拟并加重由Nav1.5钠通道功能丧失突变诱导的Brugada表型。
Heart Rhythm. 2014 Aug;11(8):1393-400. doi: 10.1016/j.hrthm.2014.04.026. Epub 2014 Apr 21.
5
A Novel SCN5A Variant Causes Temperature-Sensitive Loss Of Function in a Family with Symptomatic Brugada Syndrome, Cardiac Conduction Disease, and Sick Sinus Syndrome.一个新的 SCN5A 变异导致一个有症状的 Brugada 综合征、心脏传导疾病和病态窦房结综合征家族对温度敏感的功能丧失。
Cardiology. 2021;146(6):754-762. doi: 10.1159/000518210. Epub 2021 Jul 8.
6
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.
7
Sodium channel kinetic changes that produce Brugada syndrome or progressive cardiac conduction system disease.产生 Brugada 综合征或进行性心脏传导系统疾病的钠通道动力学变化。
Am J Physiol Heart Circ Physiol. 2007 Jan;292(1):H399-407. doi: 10.1152/ajpheart.01025.2005. Epub 2006 Jul 28.
8
A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.心脏钠离子通道基因 SCN5A 的杂合性缺失突变具有失活和激活功能的特征，表现为孤立性传导疾病，没有 Brugada 或长 QT 综合征的迹象。
PLoS One. 2013 Jun 28;8(6):e67963. doi: 10.1371/journal.pone.0067963. Print 2013.
9
Cardiac sodium channel Nav1.5 mutations and cardiac arrhythmia.心脏钠通道Nav1.5突变与心律失常
Pediatr Cardiol. 2012 Aug;33(6):943-9. doi: 10.1007/s00246-012-0303-y. Epub 2012 Mar 30.
10
Characterization of the novel heterozygous genetic variant Y739D associated with Brugada syndrome.与Brugada综合征相关的新型杂合基因变异Y739D的特征分析。
Biochem Biophys Rep. 2022 Mar 11;30:101249. doi: 10.1016/j.bbrep.2022.101249. eCollection 2022 Jul.

引用本文的文献

1
The Genetic Puzzle of the Stress-Induced Cardiomyopathy (Takotsubo Syndrome): State of Art and Future Perspectives.应激性心肌病（Takotsubo综合征）的遗传谜题：现状与未来展望
Biomolecules. 2025 Jun 24;15(7):926. doi: 10.3390/biom15070926.

本文引用的文献

1
Takotsubo syndrome: State-of-the-art review by an expert panel - Part 2.应激性心肌病：专家小组的最新综述 - 第2部分。
Cardiovasc Revasc Med. 2019 Feb;20(2):153-166. doi: 10.1016/j.carrev.2018.11.016. Epub 2018 Nov 17.
2
Takotsubo syndrome: State-of-the-art review by an expert panel - Part 1.应激性心肌病：专家小组的最新综述 - 第1部分。
Cardiovasc Revasc Med. 2019 Jan;20(1):70-79. doi: 10.1016/j.carrev.2018.11.015. Epub 2018 Nov 17.
3
Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Na1.5 gain-of-function mutation (G213D).
由 Na1.5 功能获得性突变（G213D）引起的多发性房性和室性早搏，伴有扩张型心肌病风险增加。
Int J Cardiol. 2018 Apr 15;257:160-167. doi: 10.1016/j.ijcard.2017.11.095.
4
The definition of the Brugada syndrome.Brugada 综合征的定义。
Eur Heart J. 2017 Oct 21;38(40):3029-3034. doi: 10.1093/eurheartj/ehx490.
5
Genome-wide association study in takotsubo syndrome - Preliminary results and future directions.应激性心肌病的全基因组关联研究——初步结果与未来方向
Int J Cardiol. 2017 Jun 1;236:335-339. doi: 10.1016/j.ijcard.2017.01.093. Epub 2017 Jan 15.
6
Warm-up Brugada phenocopy associated with takotsubo cardiomyopathy.与应激性心肌病相关的热身 Brugada 综合征样心电图表现
Am J Emerg Med. 2016 Oct;34(10):2051.e1-2051.e3. doi: 10.1016/j.ajem.2016.02.075. Epub 2016 Mar 2.
7
Brugada syndrome and Brugada phenocopy. The importance of a differential diagnosis.Brugada综合征与Brugada综合征拟表型。鉴别诊断的重要性。
Int J Cardiol. 2016 May 1;210:25-7. doi: 10.1016/j.ijcard.2016.02.097. Epub 2016 Feb 17.
8
Rare Variants in Cardiomyopathy Genes Associated With Stress-Induced Cardiomyopathy.与应激性心肌病相关的心肌病基因中的罕见变异
Neurosurgery. 2016 Jun;78(6):835-43. doi: 10.1227/NEU.0000000000001152.
9
The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.心脏钠通道基因SCN5A及其基因产物NaV1.5：在生理和病理生理中的作用。
Gene. 2015 Dec 1;573(2):177-87. doi: 10.1016/j.gene.2015.08.062. Epub 2015 Sep 8.
10
HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.遗传性原发性心律失常综合征患者诊断与管理的HRS/EHRA/APHRS专家共识声明：2013年5月由HRS、EHRA和APHRS认可，2013年6月由ACCF、AHA、PACES和AEPC认可。
Heart Rhythm. 2013 Dec;10(12):1932-63. doi: 10.1016/j.hrthm.2013.05.014. Epub 2013 Aug 30.