title: Congenital long QT syndrome and 2:1 atrioventricular block with a mutation of the SCN5A gene.
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).
authors.affiliation: Department of Cardiology, Keio University Hospital, Tokyo, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Miura
authors.forename: H
authors.initials: H
authors.lastname: Yamagishi
authors.forename: Y
authors.initials: Y
authors.lastname: Morikawa
authors.forename: R
authors.initials: R
authors.lastname: Matsuoka
mesh_terms: D004562:Electrocardiography; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006327:Heart Block / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008133:Long QT Syndrome / Q000151:congenital* / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels