title: Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan.
abstract: OBJECTIVE
  Brugada syndrome (BrS) is a hereditable sudden cardiac death (SCD). Mutations in the SCN5A gene (the most common BrS-causing gene) are responsible for 20-25% of this disease in Caucasian populations. However, the prevalence of SCN5A mutations in patients with BrS in the Chinese Han population in Taiwan remains unknown. Therefore, in this study, we investigated the prevalence of the SCN5A mutation in the largest BrS cohort in Taiwan.
  
  
  METHODS
  We consecutively enrolled 47 unrelated patients with BrS from medical centers and hospitals in Taiwan between 2000 and 2010. Mutations within all the 27 translated exons, and exon-intron boundaries of the SCN5A-encoded cardiac sodium channel were screened in all patients with BrS using direct sequencing. A total of 500 unrelated healthy volunteers with a normal electrocardiogram were genotyped as a control group.
  
  
  RESULTS
  SCN5A genetic variants were identified in 14 of the 47 patients with BrS and four of the 14 patients with BrS had missense mutations (1651 G>A, 1776 C>G, 3578 G>A). The prevalence rate of SCN5A mutations was approximately 8% (4/47), which was significantly lower than that reported in Caucasian populations (20-25%; p = 0.0007). The average age of these 14 BrS patients with SCN5A variants at diagnosis (12 men and 2 women) was 40 ± 13 years. Four patients experienced SCD, and six presented with seizure or syncope. Only three patients (3/14, 21.4%) had a family history of SCD.
  
  
  CONCLUSIONS
  The prevalence of SCN5A mutations in the Chinese Han population in Taiwan may be lower than that reported in the Caucasian populations. In addition, most patients with BrS did not have a family history of SCD.
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Jyh-Ming Jimmy
authors.initials: JM
authors.lastname: Juang
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Chia-Ti
authors.initials: CT
authors.lastname: Tsai
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Lian-Yu
authors.initials: LY
authors.lastname: Lin
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Yen-Bin
authors.initials: YB
authors.lastname: Liu
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Chih-Chieh
authors.initials: CC
authors.lastname: Yu
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Juey-Jen
authors.initials: JJ
authors.lastname: Hwang
authors.affiliation: Cardiovascular Center, National Taiwan University Hospital, Yun-Lin Branch, Yun-Lin County, Taiwan.
authors.forename: Jien-Jiun
authors.initials: JJ
authors.lastname: Chen
authors.affiliation: Cardiovascular Center, National Taiwan University Hospital, Yun-Lin Branch, Yun-Lin County, Taiwan.
authors.forename: Fu-Chun
authors.initials: FC
authors.lastname: Chiu
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Wen-Jone
authors.initials: WJ
authors.lastname: Chen
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Chuen-Den
authors.initials: CD
authors.lastname: Tseng
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Fu-Tien
authors.initials: FT
authors.lastname: Chiang
authors.affiliation: Department of Anesthesiology, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Huei-Ming
authors.initials: HM
authors.lastname: Yeh
authors.affiliation: Department of Medical Education, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
authors.forename: Shih-Fan
authors.initials: SF
authors.lastname: Sherri Yeh
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan. Electronic address: lplai2003@ntu.edu.tw.
authors.forename: Ling-Ping
authors.initials: LP
authors.lastname: Lai
authors.affiliation: Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan. Electronic address: jiunnlee@ntu.edu.tw.
authors.forename: Jiunn-Lee
authors.initials: JL
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D053840:Brugada Syndrome / Q000235:genetics*; D016022:Case-Control Studies; D016757:Death, Sudden, Cardiac; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D012640:Seizures / Q000209:etiology; D013624:Taiwan; D055815:Young Adult
chemical_list: D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human
keywords: Brugada syndrome; SCN5A mutations; Taiwan; sodium channel