title: A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.
abstract: Mutations in the cardiac Na+ channel gene SCN5A are responsible for multiple lethal ventricular arrhythmias including Brugada syndrome and congenital long QT syndrome. Here we report a case of Brugada syndrome with ST elevation in the right precordial and inferior leads accompanied by atrial standstill and spontaneous ventricular fibrillation. Atrial standstill and J wave elevation were provoked by procainamide. Genetic analysis revealed a missense mutation (R367H) in SCN5A. The resultant mutant Na+ channel was nonfunctional when expressed heterologously in Xenopus oocytes. Our study suggests that genetic defects in SCN5A may be associated with atrial standstill in combination with ventricular arrhythmias.
authors.affiliation: First Department of Medicine, Asahikawa Medical College, Asahikawa, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Takehara
authors.forename: N
authors.initials: N
authors.lastname: Makita
authors.forename: J
authors.initials: J
authors.lastname: Kawabe
authors.forename: N
authors.initials: N
authors.lastname: Sato
authors.forename: Y
authors.initials: Y
authors.lastname: Kawamura
authors.forename: A
authors.initials: A
authors.lastname: Kitabatake
authors.forename: K
authors.initials: K
authors.lastname: Kikuchi
mesh_terms: D000328:Adult; D004562:Electrocardiography; D005260:Female; D006321:Heart / Q000503:physiopathology*; D006325:Heart Atria / Q000503:physiopathology; D006334:Heart Function Tests / Q000379:methods; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D009206:Myocardium / Q000378:metabolism*; D062554:NAV1.5 Voltage-Gated Sodium Channel; D016133:Polymerase Chain Reaction; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome; D014693:Ventricular Fibrillation / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels