作者
Georgia Sarquella-Brugada, Oscar Campuzano, Elena Arbelo, Josep Brugada, Ramon Brugada
发表日期
2016/1
来源
Genetics in Medicine
卷号
18
期号
1
页码范围
3-12
出版商
Nature Publishing Group
简介
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada type I electrocardiographic pattern in combination with other clinical features. The most effective approach to unmasking this diagnostic pattern is the use of ajmaline and flecainide tests, and the most effective intervention to reducing the risk of death is the implantation of a cardioverter defibrillator. To date, 18 genes have been associated with the disease, with the voltage-gated sodium channel α type V gene (SCN5A) being the most common one to date. However, only 30–35% of diagnosed cases are attributable to pathogenic variants in known genes, emphasizing the need for further genetic studies. Despite recent advances in clinical diagnoses and genetic testing, risk stratification and clinical management of patients with Brugada …
引用总数
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学术搜索中的文章
G Sarquella-Brugada, O Campuzano, E Arbelo… - Genetics in Medicine, 2016