title: [The clinical variability of and approaches to treatment of life-threatening ventricular arrhythmias caused by SCN5A gene mutations].
abstract: The reasons for ventricular arrhythmias are variable enough. In many cases the presence and degree of ventricular arrhythmias cannot be explained satisfactorily by the presence of ischemic of inflammatory myocardial lesion. Now that the development of contemporary arrhythmology is associated with active development of molecular-and-genetic research methods, genetic aspects of the pathogenesis of arrhythmias are understood more clearly. Allelic series of diseases that are manifested by arrhythmias that differ clinically but result from mutations in one and the same gene have been described. This paper presents the results of molecular-and-genetic and clinical analysis of diseases caused by mutations in SCN5A gene, which codes the alpha-subunit of the sodium channel Na(v)1.5. Study of clinical manifestations of verified mutations makes it possible to more fully consider possible ways of the development of cardiac rhythm disorders and use the most optimal methods for their treatment.
authors.forename: L A
authors.initials: LA
authors.lastname: Bokeria
authors.forename: A Sh
authors.initials: ASh
authors.lastname: Revishvili
authors.forename: I V
authors.initials: IV
authors.lastname: Pronicheva
authors.forename: E V
authors.initials: EV
authors.lastname: Zakliaz'minskaia
authors.forename: A V
authors.initials: AV
authors.lastname: Poliakov
mesh_terms: D000328:Adult; D000483:Alleles; D002940:Circadian Rhythm; D004247:DNA / Q000235:genetics*; D015716:Electrocardiography, Ambulatory; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D062554:NAV1.5 Voltage-Gated Sodium Channel; D016133:Polymerase Chain Reaction; D011379:Prognosis; D012189:Retrospective Studies; D012720:Severity of Illness Index; D015222:Sodium Channels / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics* / Q000503:physiopathology
chemical_list: D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels; D004247:DNA