title: A Novel SCN5A Mutation Found in a Familial Case of Long QT Syndrome Complicated by Severe Left Ventricular Dysfunction.
abstract: A 16-year-old boy with long QT syndrome type 3 (LQT3) was admitted for decompensated heart failure resulting from dilated cardiomyopathy (DCM). His brother was also diagnosed with LQT3 and DCM. A comprehensive genetic analysis identified a novel SCN5A missense mutation-p.Q371E-in these 2 affected living family members. It might be important to suspect the coexistence of DCM and LQT3 (which is rare according to previous articles) in cases with this novel SCN5A missense mutation.
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Mai
authors.initials: M
authors.lastname: Kimura
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan. Electronic address: kohno.a2@keio.jp.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kohno
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Yoshiyasu
authors.initials: Y
authors.lastname: Aizawa
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Taku
authors.initials: T
authors.lastname: Inohara
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Shiraishi
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Katsumata
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Toru
authors.initials: T
authors.lastname: Egashira
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Fukushima
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
authors.affiliation: Department of Cardiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Fukuda
mesh_terms: D000293:Adolescent; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004452:Echocardiography; D004562:Electrocardiography; D005820:Genetic Testing; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index; D013599:Systole; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D016277:Ventricular Function, Left
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; D004247:DNA