Genetic Basis of Brugada Syndrome
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 o...
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MDPI AG
2025-07-01
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| Online Access: | https://www.mdpi.com/2227-9059/13/7/1740 |
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| author | Xianghuan Xie Yanghui Chen Zhiqiang Li Yang Sun Guangzhi Chen |
| author_facet | Xianghuan Xie Yanghui Chen Zhiqiang Li Yang Sun Guangzhi Chen |
| author_sort | Xianghuan Xie |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9f7508a3d78347cc963ff7fb4e77fbb9 |
| institution | Kabale University |
| issn | 2227-9059 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj-art-9f7508a3d78347cc963ff7fb4e77fbb92025-08-20T03:36:02ZengMDPI AGBiomedicines2227-90592025-07-01137174010.3390/biomedicines13071740Genetic Basis of Brugada SyndromeXianghuan Xie0Yanghui Chen1Zhiqiang Li2Yang Sun3Guangzhi Chen4Hubei 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, ChinaHubei 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, ChinaDepartment of Cell Biology, SUNY Downstate Health Sciences University, Brooklyn, NY 11203, USAHubei 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, ChinaHubei 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, ChinaBrugada 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.https://www.mdpi.com/2227-9059/13/7/1740Brugada syndromeBrugadageneticsgenes |
| spellingShingle | Xianghuan Xie Yanghui Chen Zhiqiang Li Yang Sun Guangzhi Chen Genetic Basis of Brugada Syndrome Biomedicines Brugada syndrome Brugada genetics genes |
| title | Genetic Basis of Brugada Syndrome |
| title_full | Genetic Basis of Brugada Syndrome |
| title_fullStr | Genetic Basis of Brugada Syndrome |
| title_full_unstemmed | Genetic Basis of Brugada Syndrome |
| title_short | Genetic Basis of Brugada Syndrome |
| title_sort | genetic basis of brugada syndrome |
| topic | Brugada syndrome Brugada genetics genes |
| url | https://www.mdpi.com/2227-9059/13/7/1740 |
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