title: [Dilated cardiomyopathy caused by p.E446K mutation in SCN5A gene].
abstract: Dilated cardiomyopathy (DCM) is myocardial disorder characterized by progressive heart chambers enlargement and impairment of myocardial contractility. This disorder is the most common cause of advanced heart failure requiring the heart transplantation. The prevalence of the disease is 36.5 per 100 000 in population. About 20-30% of cases are familial. Disease is genetically heterogenous, there more than 100 genes when mutated can give rise a DCM. In 2004, the role of SCN5A gene mutations was shown in origin of DCM with cardiac conduction defects and arrhythmias. In this work we present a clinical case of dilated cardiomyopathy with cardiac arrhythmias and p.E446K mutation in SCN5A gene. We have observed DCM with mild left ventricular hypertrophy, progressive AV block, atrial fibrillation and congenital heart defect (atrium septal defect) in two generations. The congenital heart defect did not co-segregate with SCN5A mutation and DCM.
authors.forename: E V
authors.initials: EV
authors.lastname: Zakliaz'minskaia
authors.forename: A V
authors.initials: AV
authors.lastname: Chapurnykh
authors.forename: T S
authors.initials: TS
authors.lastname: Voronina
authors.forename: E Iu
authors.initials: EIu
authors.lastname: Van
authors.forename: A G
authors.initials: AG
authors.lastname: Shestak
authors.forename: S
authors.initials: S
authors.lastname: Saber
authors.forename: S L
authors.initials: SL
authors.lastname: Dzemeshkevich
mesh_terms: D001281:Atrial Fibrillation / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D054537:Atrioventricular Block / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D002304:Cardiac Pacing, Artificial / Q000379:methods; D006348:Cardiac Surgical Procedures / Q000379:methods*; D002311:Cardiomyopathy, Dilated / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000601:surgery; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000209:etiology / Q000503:physiopathology; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010138:Pacemaker, Artificial; D010375:Pedigree; D012720:Severity of Illness Index; D016896:Treatment Outcome
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human