Juang Jyh-Ming Jimmy, Tsai Chia-Ti, Lin Lian-Yu, Liu Yen-Bin, Yu Chih-Chieh, Hwang Juey-Jen, Chen Jien-Jiun, Chiu Fu-Chun, Chen Wen-Jone, Tseng Chuen-Den, Chiang Fu-Tien, Yeh Huei-Ming, Sherri Yeh Shih-Fan, Lai Ling-Ping, Lin Jiunn-Lee
Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University, College of Medicine, Taipei, Taiwan.
Cardiovascular Center, National Taiwan University Hospital, Yun-Lin Branch, Yun-Lin County, Taiwan.
J Formos Med Assoc. 2015 Jul;114(7):620-6. doi: 10.1016/j.jfma.2013.02.002. Epub 2013 Mar 15.
BACKGROUND/PURPOSE: 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.
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.
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.
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.
背景/目的： Brugada综合征（BrS）是一种遗传性心源性猝死（SCD）。SCN5A基因（最常见的致BrS基因）的突变在白种人群中导致20%-25%的该疾病。然而，台湾汉族人群中BrS患者SCN5A突变的患病率仍不清楚。因此，在本研究中，我们调查了台湾最大的BrS队列中SCN5A突变的患病率。
我们在2000年至2010年间连续纳入了47例来自台湾医疗中心和医院的无亲缘关系的BrS患者。使用直接测序法对所有BrS患者的SCN5A编码的心脏钠通道的全部27个翻译外显子及外显子-内含子边界的突变进行筛查。共500例心电图正常的无亲缘关系健康志愿者作为对照组进行基因分型。
47例BrS患者中有14例鉴定出SCN5A基因变异，14例中有4例发生错义突变（1651 G>A、1776 C>G、3578 G>A）。SCN5A突变的患病率约为8%（4/47），显著低于白种人群报道的患病率（20%-25%；p = 0.0007）。这14例有SCN5A变异的BrS患者诊断时的平均年龄（12例男性和2例女性）为40±13岁。4例患者发生心源性猝死，6例出现癫痫发作或晕厥。只有3例患者（3/14，21.4%）有家族性心源性猝死病史。
台湾汉族人群中SCN5A突变的患病率可能低于白种人群报道的患病率。此外，大多数BrS患者没有家族性心源性猝死病史。
