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Literature DB >> 12574983

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

M Miura¹, H Yamagishi, Y Morikawa, R Matsuoka.

Abstract

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).

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2003 PMID： 12574983 DOI： 10.1007/s00246-002-0169-5

Source DB: PubMed Journal: Pediatr Cardiol ISSN： 0172-0643 Impact factor: 1.655

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Cited

8 in total

1. Dilated cardiomyopathy masquerading as long QT syndrome.

Authors: J Walls; A Dipchand; S Sanatani
Journal: Pediatr Cardiol Date: 2006 Jan-Feb Impact factor: 1.655

2. Survival of a Newborn with 2:1 Atrioventricular Block, Long QT Syndrome, and Torsades de Pointes.

Authors: Shubho Sarkar; Michael Brumund; Rani Darling; Christopher S Snyder
Journal: Ochsner J Date: 2007

3. Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Authors: Arthur A M Wilde; Arthur J Moss; Elizabeth S Kaufman; Wataru Shimizu; Derick R Peterson; Jesaia Benhorin; Coeli Lopes; Jeffrey A Towbin; Carla Spazzolini; Lia Crotti; Wojciech Zareba; Ilan Goldenberg; Jørgen K Kanters; Jennifer L Robinson; Ming Qi; Nynke Hofman; David J Tester; Connie R Bezzina; Marielle Alders; Takeshi Aiba; Shiro Kamakura; Yoshihiro Miyamoto; Mark L Andrews; Scott McNitt; Bronislava Polonsky; Peter J Schwartz; Michael J Ackerman
Journal: Circulation Date: 2016-08-26 Impact factor: 29.690

Review 4. The cardiac persistent sodium current: an appealing therapeutic target?

Authors: D A Saint
Journal: Br J Pharmacol Date: 2007-12-10 Impact factor: 8.739

Review 5. Fetal long QT syndrome manifested as atrioventricular block and ventricular tachycardia: a case report and a review of the literature.

Authors: Sanitra Anuwutnavin; Prapat Wanitpongpan; Paweena Chungsomprasong; Jarupim Soongswang; Nattinee Srisantiroj; Tuangsit Wataganara
Journal: Pediatr Cardiol Date: 2012-09-18 Impact factor: 1.655

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

1. Dilated cardiomyopathy masquerading as long QT syndrome.

2. Survival of a Newborn with 2:1 Atrioventricular Block, Long QT Syndrome, and Torsades de Pointes.

3. Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.

Review 4. The cardiac persistent sodium current: an appealing therapeutic target?

Review 5. Fetal long QT syndrome manifested as atrioventricular block and ventricular tachycardia: a case report and a review of the literature.

6. Differential modulation of late sodium current by protein kinase A in R1623Q mutant of LQT3.

7. The diagnosis and management of long QT syndrome based on fetal echocardiography.

8. A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.