Document Detail

Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene.
MedLine Citation:
PMID:  12574983     Owner:  NLM     Status:  MEDLINE    
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).
M Miura; H Yamagishi; Y Morikawa; R Matsuoka
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric cardiology     Volume:  24     ISSN:  0172-0643     ISO Abbreviation:  Pediatr Cardiol     Publication Date:    2003 Jan-Feb
Date Detail:
Created Date:  2003-02-07     Completed Date:  2003-05-15     Revised Date:  2011-07-22    
Medline Journal Info:
Nlm Unique ID:  8003849     Medline TA:  Pediatr Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  70-2     Citation Subset:  IM    
Department of Cardiology, Keio University Hospital, Tokyo, Japan.
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MeSH Terms
Genetic Predisposition to Disease / genetics
Heart Block / congenital*,  genetics*
Infant, Newborn
Long QT Syndrome / congenital*,  genetics*
Mutation, Missense / genetics*
Sodium Channels / genetics*
Reg. No./Substance:
0/Sodium Channels; 0/sodium channel protein type 5 subunit alpha

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