台湾全国性队列中儿茶酚胺能多形性室性心动过速的遗传和临床特征
Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort.
作者信息
Hsu Grace Chia-Yen, Wu Mei-Hwan, Chuang Jing-Yuan, Chiu Shuenn-Nan, Lin Ming-Tai, Lai Ling-Ping, Yeh Shih-Fan Sherri, Liu Sheng-Fu, Lin Ting-Tse, Chiang Fu-Tien, Juang Jyh-Ming Jimmy
机构信息
Department of Physical Medicine and Rehabilitation, National Taiwan University Hospital, Taipei, Taiwan.
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
出版信息
J Formos Med Assoc. 2024 Aug 1. doi: 10.1016/j.jfma.2024.07.021.
BACKGROUND
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and lethal arrhythmia. Ryanodine receptor 2 (RYR2) mutation accounts for ∼60% of CPVT patients which is inherited in an autosomal dominant pattern.
OBJECTIVE
This study aimed to identify CPVT-related mutations and clinical characteristics among Taiwanese CPVT patients and compare to other cohorts worldwide.
METHODS
Clinical and genetic data were obtained from the Sudden Arrhythmia Death Syndrome Registry in Taiwan (SADS-TW). Forty clinically diagnosed Taiwanese CPVT patients were included.
RESULTS
This is the first nationwide CPVT cohort in Taiwan. Among the 29 Taiwanese patients with CPVT-related gene mutations, 55% had RYR2 mutations, a rate similar to other ethnicities. Three out of 12 RYR2 variants were unreported. Exercise-induced symptoms including syncope and cardiac arrest were more frequent in East Asian cohorts (Taiwanese 79%, Japanese 91%), compared to Caucasian cohorts (59%) (p = 0.002).
CONCLUSION
The discovery of diverse RYR2 mutations in the Taiwanese CVPT population demonstrates the importance of genetic testing in different ethnicities.
背景
儿茶酚胺能多形性室性心动过速（CPVT）是一种罕见的致死性心律失常。兰尼碱受体2（RYR2）突变约占CPVT患者的60%，呈常染色体显性遗传模式。
目的
本研究旨在确定台湾CPVT患者中与CPVT相关的突变和临床特征，并与全球其他队列进行比较。
方法
从台湾心律失常猝死综合征登记处（SADS-TW）获取临床和基因数据。纳入40例临床诊断为CPVT的台湾患者。
结果
这是台湾首个全国性CPVT队列。在29例有CPVT相关基因突变的台湾患者中，55%有RYR2突变，这一比例与其他种族相似。12种RYR2变异中有3种未被报道。与白种人队列（59%）相比（p = 0.002），东亚队列（台湾人79%，日本人91%）运动诱发的症状（包括晕厥和心脏骤停）更为常见。
结论
在台湾CPVT人群中发现多种RYR2突变表明基因检测在不同种族中的重要性。
Zotero 插件