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
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
  • [1] Congenital Long QT Syndrome and 2:1 Atrioventricular Block with a Mutation of the SCN5A Gene
    M. Miura
    H. Yamagishi
    Y. Morikawa
    R. Matsuoka
    Pediatric Cardiology, 2003, 24 : 70 - 72
  • [2] Homozyqotous mutation of the SCN5A gene responsible for a congenital long QT syndrome with 2/1 atrioventricular block
    Lupoglazoff, JM
    Denjoy, I
    Cheav, T
    Berthet, M
    Extramiana, F
    Cauchemez, B
    Villain, E
    Leenhardt, A
    Guicheney, P
    ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX, 2002, 95 (05): : 440 - 446
  • [3] Homozygous SCN5A mutation in long QT syndrome with functional 2:1 AV block
    Lupoglazoff, JM
    Cheav, T
    Baroudi, G
    Berthet, M
    Denjoy, I
    Chahine, M
    Guicheney, P
    CIRCULATION, 2001, 104 (17) : 752 - 752
  • [4] Homozygote SCN5A mutation in long QT-syndrome with functional 2:1 AV block
    Denjoy, I
    Lupoglazoff, JM
    Cheav, T
    Baroudi, G
    Berthet, M
    Chahine, M
    Guicheney, P
    EUROPEAN HEART JOURNAL, 2001, 22 : 424 - 424
  • [5] Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block
    Lupoglazoff, JM
    Cheav, T
    Baroudi, G
    Berthet, M
    Denjoy, L
    Cauchemez, B
    Extramiana, F
    Chahine, M
    Guicheney, P
    CIRCULATION RESEARCH, 2001, 89 (02) : E16 - E21
  • [6] A de novo missense mutation of the SCN5A gene in long QT syndrome.
    Matsuoka, R
    Yamagishi, H
    Furutani, M
    Kamisago, M
    Morikawa, Y
    Kojima, Y
    Hino, Y
    Furutani, Y
    Kimura, M
    Imamura, S
    Takao, A
    CIRCULATION, 1997, 96 (08) : 304 - 304
  • [7] Mutational analysis of SCN5A gene in long QT syndrome
    Qureshi, Sameera Fatima
    Ali, Altaf
    John, Princy
    Jadhav, Amol P.
    Venkateshwari, Ananthapur
    Rao, Hygriv
    Jayakrishnan, M. P.
    Narasimhan, Calambur
    Shenthar, Jayaprakash
    Thangaraj, Kumarasamy
    Nallari, Pratibha
    META GENE, 2015, 6 : 26 - 35
  • [8] Mutation analysis in congenital long QT syndrome -: A case with missense mutations in KCNQ1 and SCN5A
    Paulussen, A
    Matthijs, G
    Gewillig, M
    Verhasselt, P
    Cohen, N
    Aerssens, J
    GENETIC TESTING, 2003, 7 (01): : 57 - 61
  • [9] A new mutation in SCN5A associated with the long QT syndrome.
    Benhorin, J
    Goldmit, M
    MacCluer, JW
    Blangero, J
    Wang, Q
    Medina, A
    Towbin, JA
    Kerem, B
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A326 - A326