Xie Xianghuan, Chen Yanghui, Li Zhiqiang, Sun Yang, Chen Guangzhi
Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Division of Cardiology, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 1095# Jiefang Ave., Wuhan 430030, China.
Department of Cell Biology, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USA.
Biomedicines. 2025 Jul 16;13(7):1740. doi: 10.3390/biomedicines13071740.
Brugada syndrome is a rare inherited heart disease characterized by ventricular arrhythmias and characteristic ST segment elevation, which increases the risk of sudden death. Studies have shown that the pathogenesis of this disease involves a variety of gene mutations, including abnormal functions of sodium, calcium, and potassium ion channels, resulting in cardiac electrophysiological disorders. These variants affect excitability and conduction of cardiomyocytes, thereby increasing the susceptibility to ventricular arrhythmias and sudden death. However, many genetic variants remain of uncertain significance or are insufficiently characterized, necessitating further investigation. This review summarizes the genetic variants associated with Brugada syndrome and discusses their potential implications for improving diagnosis and therapeutic approaches.
布加综合征是一种罕见的遗传性心脏病，其特征为室性心律失常和特征性ST段抬高，这会增加猝死风险。研究表明，该疾病的发病机制涉及多种基因突变，包括钠、钙和钾离子通道功能异常，导致心脏电生理紊乱。这些变异影响心肌细胞的兴奋性和传导性，从而增加室性心律失常和猝死的易感性。然而，许多基因变异的意义仍不确定或特征描述不足，需要进一步研究。本综述总结了与布加综合征相关的基因变异，并讨论了它们对改善诊断和治疗方法的潜在意义。
