• 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

儿科及家族遗传性心律失常综合征—长 QT 间期的评估—鉴别诊断及您需要了解的知识。

Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know.

机构信息

Department of Pediatric Cardiology, University of Utah and Primary Children's Hospital, 100 Mario Capecchi Drive, Salt Lake City, UT 84113, USA.

Department of Pediatrics, Division of Cardiology, Texas Children's Hospital and Baylor College of Medicine, 6651 Main Street, Houston, TX 77003, USA.

出版信息

Card Electrophysiol Clin. 2024 Jun;16(2):195-202. doi: 10.1016/j.ccep.2023.10.006. Epub 2023 Nov 10.

DOI:10.1016/j.ccep.2023.10.006
PMID:38749641
Abstract

The case series reviews differential diagnosis of a genetic arrhythmia syndrome when evaluating a patient with prolonged QTc. Making the correct diagnosis requires: detailed patient history, family history, and careful review of the electrocardiogram (ECG). Signs and symptoms and ECG characteristics can often help clinicians make the diagnosis before genetic testing results return. These skills can help clinicians make an accurate and timely diagnosis and prevent life-threatening events.

摘要

本病例系列回顾了在评估 QTc 延长患者时,遗传性心律失常综合征的鉴别诊断。正确诊断需要:详细的患者病史、家族史和仔细的心电图(ECG)复查。体征、症状和 ECG 特征通常有助于临床医生在基因检测结果返回之前做出诊断。这些技能可以帮助临床医生做出准确、及时的诊断,预防危及生命的事件。

相似文献

1
Pediatric and Familial Genetic Arrhythmia Syndromes-Evaluation of Prolonged QTc-Differential Diagnosis and what You Need to Know.儿科及家族遗传性心律失常综合征—长 QT 间期的评估—鉴别诊断及您需要了解的知识。
Card Electrophysiol Clin. 2024 Jun;16(2):195-202. doi: 10.1016/j.ccep.2023.10.006. Epub 2023 Nov 10.
2
Pediatric and Familial Genetic Arrhythmia Syndromes: Evaluation of Bidirectional Ventricular Tachycardia-Differential Diagnosis.儿科及家族性遗传性心律失常综合征:双向性室性心动过速的鉴别诊断。
Card Electrophysiol Clin. 2024 Jun;16(2):203-210. doi: 10.1016/j.ccep.2023.10.002. Epub 2023 Nov 13.
3
Pediatric and Familial Genetic Arrhythmia Syndromes: SCN5A-Related Disorders When It Is Not Long QT Type 3: Clinical Signs and Symptoms.儿科和家族性遗传性心律失常综合征:长 QT 综合征 3 型以外的 SCN5A 相关疾病:临床体征和症状。
Card Electrophysiol Clin. 2024 Jun;16(2):211-218. doi: 10.1016/j.ccep.2023.10.007. Epub 2023 Nov 10.
4
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.钙调蛋白突变与危及生命的心律失常:来自国际钙调蛋白病注册中心的见解。
Eur Heart J. 2019 Sep 14;40(35):2964-2975. doi: 10.1093/eurheartj/ehz311.
5
Use of Artificial Intelligence and Deep Neural Networks in Evaluation of Patients With Electrocardiographically Concealed Long QT Syndrome From the Surface 12-Lead Electrocardiogram.基于体表 12 导联心电图评估心电图隐匿性长 QT 综合征患者中人工智能和深度神经网络的应用。
JAMA Cardiol. 2021 May 1;6(5):532-538. doi: 10.1001/jamacardio.2020.7422.
6
Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.儿科亲属的心律失常性猝死综合征心脏评估:一项 2 中心经验。
Circ Arrhythm Electrophysiol. 2014 Oct;7(5):800-6. doi: 10.1161/CIRCEP.114.001818. Epub 2014 Sep 6.
7
Early repolarization and risk of arrhythmia events in long QT syndrome.长QT综合征中的早期复极与心律失常事件风险
Int J Cardiol. 2016 Nov 15;223:540-542. doi: 10.1016/j.ijcard.2016.08.215. Epub 2016 Aug 11.
8
The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome.长QT综合征基因携带者的症状谱和QT间期
N Engl J Med. 1992 Sep 17;327(12):846-52. doi: 10.1056/NEJM199209173271204.
9
Cardiac tachyarrhythmias in hereditary long QT syndromes presenting as a seizure disorder.遗传性长QT综合征中表现为癫痫发作障碍的心脏快速性心律失常。
Can J Neurol Sci. 1986 Aug;13(3):262-3. doi: 10.1017/s0317167100036398.
10
Electrocardiographic screening of 1-month-old infants for identifying prolonged QT intervals.1 月龄婴儿心电图筛查以识别 QT 间期延长。
Circ Arrhythm Electrophysiol. 2013 Oct;6(5):932-8. doi: 10.1161/CIRCEP.113.000619. Epub 2013 Sep 13.

引用本文的文献

1
TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant.一名61岁男性患有发作性肌无力、横纹肌溶解症、肌强直及一种新型错义变异的TANGO2缺乏症。
Mol Genet Metab Rep. 2025 Jul 4;44:101241. doi: 10.1016/j.ymgmr.2025.101241. eCollection 2025 Sep.