title: A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome.
abstract: Mutations in SCN5A have been reported to cause several types of hereditary arrhythmias (overlap syndrome). We herein report two patients with the overlapping phenotypes of juvenile sick sinus syndrome (SSS) and Brugada syndrome (BrS). The proband was a man who was in his twenties and had been diagnosed with both SSS and ventricular tachycardia (VT). A pilsicainide challenge test revealed a coved type ST segment elevation. His teenage brother also suffered from SSS, but no VT had been documented. A pilsicainide challenge failed to produce a Brugada-type ST elevation, but there was a marked prolongation of the His-ventricle interval. Their electrocardiograms at rest did not display any Brugada-type ST elevations. We identified a novel SCN5A (F1775Lfs*15) mutation in both patients, even though there was a phenotype discrepancy.
authors: Department of Cardiology, Tenri Hospital, Japan.
authors: Seiko
authors: S
authors: Nakajima
authors: Takeru
authors: T
authors: Makiyama
authors: Koji
authors: K
authors: Hanazawa
authors: Kazuaki
authors: K
authors: Kaitani
authors: Masashi
authors: M
authors: Amano
authors: Yukiko
authors: Y
authors: Hayama
authors: Naoaki
authors: N
authors: Onishi
authors: Yodo
authors: Y
authors: Tamaki
authors: Makoto
authors: M
authors: Miyake
authors: Toshihiro
authors: T
authors: Tamura
authors: Hirokazu
authors: H
authors: Kondo
authors: Makoto
authors: M
authors: Motooka
authors: Chisato
authors: C
authors: Izumi
authors: Yoshihisa
authors: Y
authors: Nakagawa
authors: Minoru
authors: M
authors: Horie
mesh_terms: D000293:Adolescent; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012804:Sick Sinus Syndrome / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human