• 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

与核纤层蛋白A/C突变相关的房性停搏:一例报告。

Atrial standstill associated with lamin A/C mutation: A case report.

作者信息

Zhang Yujiao, Zhang Yong, Ren Manyi, Xue Minghua, Hu Chunying, Hou Yinglong, Li Zhiyuan, Qu Haiyan, Moreira Paulo

机构信息

Department of Cardiology, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China.

Department of Ultrasound Diagnosis and Treatment, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, Jinan, China.

出版信息

SAGE Open Med Case Rep. 2023 Jul 3;11:2050313X231179810. doi: 10.1177/2050313X231179810. eCollection 2023.

DOI:10.1177/2050313X231179810
PMID:37425136
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10328153/
Abstract

The case report shares evidence for a better understanding of atrial standstill. This being a rare arrhythmogenic condition. This is a 46-year-old woman presented with multiple sites of arterial embolism, including lower extremity arteries, coronary artery, and cerebral artery. Unexpectedly, multiple arterial embolization in the patient was due to atrial standstill by transthoracic echocardiography and cardiac electrophysiological study. An additional family investigation revealed that the patient's brother and sister also suffered from this disease. In search of further understanding the case, we carried out the genetic testing of the family and a frame shift double-G insertion mutation at c.1567 in the gene was found in all the three individuals. The patient recovered well after anticoagulation therapy and left bundle branch area pacing. This report remarks on the importance of multiple sites of arterial embolism which should be wary of family atrial standstill.

摘要

该病例报告分享了有助于更好理解心房静止的证据。这是一种罕见的致心律失常病症。这是一名46岁女性,出现多处动脉栓塞,包括下肢动脉、冠状动脉和脑动脉。经胸超声心动图和心脏电生理研究意外发现,该患者的多处动脉栓塞是由心房静止所致。进一步的家族调查显示,患者的哥哥和姐姐也患有此病。为进一步了解该病例,我们对该家族进行了基因检测,发现所有三名个体在该基因的c.1567处均存在移码双G插入突变。抗凝治疗和左束支区域起搏后,患者恢复良好。本报告指出多处动脉栓塞的重要性,应警惕家族性心房静止。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65a1/10328153/3d3f0fc91852/10.1177_2050313X231179810-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65a1/10328153/351edb62284d/10.1177_2050313X231179810-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65a1/10328153/c9f0233b29b6/10.1177_2050313X231179810-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65a1/10328153/3d3f0fc91852/10.1177_2050313X231179810-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65a1/10328153/351edb62284d/10.1177_2050313X231179810-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65a1/10328153/c9f0233b29b6/10.1177_2050313X231179810-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65a1/10328153/3d3f0fc91852/10.1177_2050313X231179810-fig3.jpg

相似文献

1
Atrial standstill associated with lamin A/C mutation: A case report.与核纤层蛋白A/C突变相关的房性停搏:一例报告。
SAGE Open Med Case Rep. 2023 Jul 3;11:2050313X231179810. doi: 10.1177/2050313X231179810. eCollection 2023.
2
Left Bundle Branch Area Pacing in a Giant Atrium With Atrial Standstill: A Case Report and Literature Review.巨大心房伴心房静止时的左束支区域起搏:一例报告及文献综述
Front Cardiovasc Med. 2022 Mar 29;9:836964. doi: 10.3389/fcvm.2022.836964. eCollection 2022.
3
A homozygous SCN5A mutation associated with atrial standstill and sudden death.一种与心房停搏和猝死相关的纯合子SCN5A突变。
Pacing Clin Electrophysiol. 2018 May 21. doi: 10.1111/pace.13386.
4
Atrial standstill presenting as cerebral infarction in a 7-year-old girl.一名7岁女孩以脑梗死形式表现的心房静止。
SAGE Open Med Case Rep. 2019 Feb 4;7:2050313X19827735. doi: 10.1177/2050313X19827735. eCollection 2019.
5
[A case of atrial standstill associated with combined valvular disease].[一例与联合瓣膜病相关的心房停搏病例]
Kokyu To Junkan. 1992 Jun;40(6):615-20.
6
Atrial standstill: an indication for rate responsive pacing.心房停搏:频率应答性起搏的指征。
Pacing Clin Electrophysiol. 1990 Jul;13(7):830-2. doi: 10.1111/j.1540-8159.1990.tb02117.x.
7
Novel pathogenic variant in LMNA gene identified in a six-generation family causing atrial cardiomyopathy and associated right atrial conduction arrhythmias.在一个六代家族中鉴定出LMNA基因的新型致病变异,该变异导致心房心肌病及相关的右心房传导性心律失常。
Front Cardiovasc Med. 2023 Jul 3;10:1109008. doi: 10.3389/fcvm.2023.1109008. eCollection 2023.
8
Persistent atrial standstill due to atrial inexcitability. An electrophysiological and histological study.因心房兴奋性丧失导致的持续性心房静止。一项电生理与组织学研究。
Jpn Heart J. 1975 Nov;16(6):639-53. doi: 10.1536/ihj.16.639.
9
Persistent Atrial Standstill in Acute Myocarditis.急性心肌炎中的持续性心房停搏
Indian Pediatr. 2016 Feb;53(2):162-4. doi: 10.1007/s13312-016-0814-3.
10
Congenital atrial standstill associated with coinheritance of a novel SCN5A mutation and connexin 40 polymorphisms.先天性心房静止与一种新型SCN5A突变和连接蛋白40多态性的共同遗传相关。
Heart Rhythm. 2005 Oct;2(10):1128-34. doi: 10.1016/j.hrthm.2005.06.032.

引用本文的文献

1
Pathogenesis and Clinical Characteristics of Hereditary Arrhythmia Diseases.遗传性心律失常疾病的发病机制和临床特征。
Genes (Basel). 2024 Oct 24;15(11):1368. doi: 10.3390/genes15111368.
2
Insights into uncovered public health risks. The case of asthma attacks among archival workers: a cross-sectional study.揭示未被发现的公共卫生风险。档案工作者哮喘发作案例:一项横断面研究。
Front Public Health. 2024 Aug 21;12:1397236. doi: 10.3389/fpubh.2024.1397236. eCollection 2024.