title: Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation.
abstract: Mutations in the cardiac sodium channel encoded by the gene SCN5A can result in a wide array of phenotypes. We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia. His father carried the same mutation, but had a milder phenotype, presenting with progressive cardiac conduction later in life. The mutation was found to result in a loss-of-function in the sodium current. In conclusion, the same SCN5A mutation can result in a wide array of clinical phenotypes and perhaps the spectrum of SCN5A loss-of-function associated disease entities should be viewed as one syndrome.
authors.affiliation: Danish National Research Foundation Centre for Cardiac Arrhythmia, University of Copenhagen, Blegdamsvej 9, Copenhagen, Denmark. anders@kanten.dk
authors.forename: Anders G
authors.initials: AG
authors.lastname: Holst
authors.forename: Bo
authors.initials: B
authors.lastname: Liang
authors.forename: Thomas
authors.initials: T
authors.lastname: Jespersen
authors.forename: Henning
authors.initials: H
authors.lastname: Bundgaard
authors.forename: Stig
authors.initials: S
authors.lastname: Haunso
authors.forename: Jesper Hastrup
authors.initials: JH
authors.lastname: Svendsen
authors.forename: Jacob
authors.initials: J
authors.lastname: Tfelt-Hansen
mesh_terms: D000328:Adult; D001282:Atrial Flutter / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D018450:Disease Progression; D004562:Electrocardiography; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D020125:Mutation, Missense; D062554:NAV1.5 Voltage-Gated Sodium Channel; D010375:Pedigree; D010641:Phenotype; D012804:Sick Sinus Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*
chemical_list: D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels