Wang Lin-Lin, Chen Yang-Hui, Sun Yang, Huang Man, Wei Hao-Ran, Liu Hao, Xu Ke, Song Xiu-Li, Chen Peng, Tan Lun, Huang Jin, Li Zong-Zhe, Li Rui, Yu Ting, Ma Fei, Ding Hu, Wang Yan, Wang Dao-Wen, Wang Hong, Zhao Chun-Xia
Division of Cardiology, Departments of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Huazhong University of Science and Technology, Wuhan 430030, China.
J Cardiovasc Dev Dis. 2022 Oct 28;9(11):369. doi: 10.3390/jcdd9110369.
Brugada syndrome (BrS) is an inheritable arrhythmia syndrome that can lead to sudden cardiac death in patients while the heart structure is normal. However, the genetic background of more than 65% of BrS probands remains unclear.
The purpose of this study is to report the variant spectrum in a Chinese cohort with suspected BrS and to analyze their distinct clinical and electrocardiographic features.
Patients with suspected BrS from Tongji Hospital between 2008 and 2021 were analyzed retrospectively.
A total of 79 probands were included in this study. Patients with type 1 BrS electrocardiogram (ECG) had a prolonged QRS duration compared to patients with type 2/3 BrS ECG. Of them, 59 probands underwent genetic testing. Twenty-five patients (42.37%) showed abnormal genetic testing results, and eight of them (13.56%) carried pathogenic/likely pathogenic (P/LP) mutations. Mutation carriers presented much more prominent depolarization and repolarization abnormalities than non-carriers, including a prolonged P-wave duration, QRS duration, QTc interval, decreased QRS amplitude, and deviation of the electrocardiographic axes (T-wave axis and R-wave axis). Furthermore, our study identified four novel P/LP mutations: Q3508X in , A990G in , G1220E, and D372H (in a representative pedigree) in .
Our study showed the variant spectrum of a suspected Chinese BrS cohort, and we identified four novel P/LP mutations in , , and .
Brugada综合征（BrS）是一种遗传性心律失常综合征，可导致心脏结构正常的患者发生心源性猝死。然而，超过65%的BrS先证者的遗传背景仍不清楚。
本研究旨在报告一个疑似BrS的中国队列中的变异谱，并分析其独特的临床和心电图特征。
回顾性分析2008年至2021年期间来自同济医院的疑似BrS患者。
本研究共纳入79名先证者。与2/3型BrS心电图患者相比，1型BrS心电图患者的QRS时限延长。其中，59名先证者接受了基因检测。25名患者（42.37%）的基因检测结果异常，其中8名（13.56%）携带致病性/可能致病性（P/LP）突变。突变携带者的去极化和复极化异常比非携带者更为突出，包括P波时限延长、QRS时限延长、QTc间期延长、QRS波幅降低以及心电图轴（T波轴和R波轴）偏移。此外，我们的研究鉴定出四个新的P/LP突变：[具体基因1]中的Q3508X、[具体基因2]中的A990G、G1220E以及[具体基因3]中的D372H（在一个代表性家系中）。
我们的研究展示了一个疑似中国BrS队列的变异谱，并在[具体基因1]、[具体基因2]和[具体基因3]中鉴定出四个新的P/LP突变。
