title: p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.
abstract: Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been associated with cardiac arrhythmia syndromes and conduction disease. Specific SCN5A mutations had initially been considered to cause specific phenotypes. More recently, some SCN5A mutations have been associated with overlap syndromes, characterized by phenotypic heterogeneity within and between mutation carriers. Here we report and associate the presence of the p.Y1449C SCN5A mutation in a single family with a spectrum of cardiac phenotypes including conduction disease, Brugada syndrome and atrial arrhythmias, for the first time to our knowledge.
authors.affiliation: Physiological Laboratory, University of Cambridge, Cambridge, UK; Murray Edwards College, University of Cambridge, Cambridge, UK; Heart Centre, Northampton General Hospital, Northampton, UK.
authors.forename: Sandeep S
authors.initials: SS
authors.lastname: Hothi
authors.forename: Farhana
authors.initials: F
authors.lastname: Ara
authors.forename: Jonathan
authors.initials: J
authors.lastname: Timperley
mesh_terms: D000293:Adolescent; D000328:Adult; D001282:Atrial Flutter / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D053840:Brugada Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002037:Bundle-Branch Block / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D022062:Electrophysiologic Techniques, Cardiac; D005260:Female; D020022:Genetic Predisposition to Disease; D006329:Heart Conduction System / Q000503:physiopathology*; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human
keywords: Brugada syndrome; SCN5A; atrial flutter; conduction disease; left bundle branch block; syncope