Abstract
Brugada syndrome, first described in 1992, is an autosomal dominant inherited disorder characterized by a distinctive electrocardiogram pattern and risk of dangerous ventricular arrhythmias leading to sudden death. Most Brugada patients are asymptomatic; instead, the disease is incidentally discovered through ECG abnormalities during routine health check-ups or through screening of relatives of Brugada patients. For symptomatic patients, the clinical presentation is quite diverse with non-specific symptoms, including syncope (30%), nocturnal dyspnea (12%), ventricular tachycardia/fibrillation (6%), and sudden cardiac death (SCD) (6%). In 1998, the first gene reported to be associated with Brugada syndrome was SCN5A, which encodes the alpha subunit of the voltage-gated cardiac sodium channel Nav1.5. Over the past two decades, several genes related to Brugada syndrome have been reported, and most of these genes primarily encode sodium, potassium, and calcium channels or proteins associated with these channels. Other genes involved in the pathogenesis of Brugada syndrome include SCN1B, SCN10A, PKP2, TRPM4, CACNA1C, CACNB2b, ABCC9, among others. However, only 30-35% of clinically diagnosed cases are genetically diagnosed, indicating that 65-70% of Brugada syndrome patients remain genetically unresolved. In recent decades, many observations have shown that Brugada syndrome has a heterogeneous genetic basis and is a more complex inherited disease. To date, it can be said that the genetic variants related to Brugada syndrome are divided into two groups: one group is the variants related to the SCN5A gene, and the other group is related to other genes called minor genes.