Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene

被引：22
|
作者：
Miura, M
Yamagishi, H
Morikawa, Y
Matsuoka, R
机构：
[1] Keio Univ Hosp, Dept Pediat, Shinjuku Ku, Tokyo 1608582, Japan
[2] Tokyo Womens Med Coll, Inst Heart, Dept Pediat Cardiol, Tokyo, Japan
来源：
PEDIATRIC CARDIOLOGY | 2003年 / 24卷 / 01期
关键词：
long QT syndrome; 2 : 1 atrioventricular block; infant; LQT3;
D O I：
10.1007/s00246-002-0169-5
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Infants with congenital long QT syndrome (LQTS) and 2:1 atrioventricular block (AVB) have been recognized as a clinical subset of children with LQTS. However, the genotype of this disorder is not well-known. We report an infant with LQTS and 2:1 AVB with a mutation of the SCN5A gene (LQT3). In some patients with LQTS and 2:1 AVB, the disorder may be due to mutation of the SCN5A gene (LQT3).
引用
收藏
页码：70 / 72
页数：3
相关论文
共 50 条
  • [41] Mutation screening in KCNQ1, HERG, KCNE1, KCNE2 and SCN5A genes in a long QT syndrome family
    Koo, Seok-Hwee
    Teo, Wee-Siong
    Ching, Chi-Keong
    Chan, Soh-Ha
    Lee, Edmund J. D.
    ANNALS ACADEMY OF MEDICINE SINGAPORE, 2007, 36 (06) : 394 - 398
  • [42] A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia
    Chang, CC
    Acharfi, S
    Wu, MH
    Chiang, FT
    Wang, JK
    Sung, TC
    Chahine, M
    CARDIOVASCULAR RESEARCH, 2004, 64 (02) : 268 - 278
  • [43] SCN5A mutation responsible for type-3 long-QT syndrome associated with atrial fibrillation
    Benito, B.
    Lizotte, E.
    Barahona-Dussault, C.
    Brugada, P.
    Brugada, J.
    Brugada, R.
    CANADIAN JOURNAL OF CARDIOLOGY, 2007, 23 : 177C - 178C
  • [44] Molecular and Clinical Characterization of a Novel SCN5A Mutation Associated With Atrioventricular Block and Dilated Cardiomyopathy
    Ge, Junbo
    Sun, Aijun
    Paajanen, Vesa
    Wang, Shijun
    Su, Chunxi
    Yang, Zhiyin
    Li, Ying
    Wang, Shaochun
    Jia, Jianguo
    Wang, Keqiang
    Zou, Yunzeng
    Gao, Lizhi
    Wang, Kun
    Fan, Zheng
    CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY, 2008, 1 (02): : 83 - 92
  • [45] Characterization of a novel SCN5A mutation associated with long QT syndrome and arrhythmogenic right ventricular cardiomyopathy in a family
    Li, Rui
    Zheng, Da
    Lin, Chunxi
    Chen, Yili
    Bai, Yang
    Zhou, Nan
    Zhao, Qianhao
    Wei, Wenzhao
    Wu, Qiuping
    Deng, Jiacheng
    Zhao, Shuquan
    Yao, Hui
    Tang, Shuangbo
    Luo, Bin
    Liu, Shuiping
    Quan, Li
    Liu, Xiaoshan
    Cheng, Jianding
    Huang, Erwen
    FORENSIC SCIENCE MEDICINE AND PATHOLOGY, 2024, : 33 - 41
  • [46] Analysis of SCN5A mutation and Antiarrhythmic Drug in Chinese Patients with Short QT Syndrome
    Hong, Kui
    Zhou, Hui
    Yan, Su Juan
    Hu, Jinzhu
    Peng, Xiao Gang
    Cheng, Xiao Shu
    Brugada, Pedro
    Brugada, Ramon
    CIRCULATION, 2012, 126 (21)
  • [47] A case of long QT syndrome with triple gene abnormalities: Digenic mutations in KCNH2 and SCN5A and gene variant in KCNE1
    Yoshikane, Yukako
    Yoshinaga, Masao
    Hamamoto, Kunihiro
    Hirose, Shinichi
    HEART RHYTHM, 2013, 10 (04) : 600 - 603
  • [48] De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome
    Wang, Lumin
    Meng, Xiangyun
    Yuchi, Zhiguang
    Zhao, Zhenghang
    Xu, Dehui
    Fedida, David
    Wang, Zhuren
    Huang, Chen
    CELLULAR PHYSIOLOGY AND BIOCHEMISTRY, 2015, 36 (06) : 2250 - 2262
  • [49] Cellular dysfunction of mutant SCN5A proteins causing long QT syndrome and Brugada syndrome
    You, S
    Wu, L
    Chen, S
    Wang, Q
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 329 - 329
  • [50] Trafficking Defects and Gating Abnormalities of a Novel SCN5A Mutation Question Gene-Specific Therapy in Long QT Syndrome Type 3
    Ruan, Yanfei
    Denegri, Marco
    Liu, Nian
    Bachetti, Tiziana
    Seregni, Morena
    Morotti, Stefano
    Severi, Stefano
    Napolitano, Carlo
    Priori, Silvia G.
    CIRCULATION RESEARCH, 2010, 106 (08) : 1374 - U162
12345