Abstract
Brugada syndrome is an ion channel disorder that increases the risk of sudden death due to ventricular arrhythmias, with a pathogenesis related to genetic mutations and heredity. The genetic material change in Brugada syndrome patients was first identified in 1998 on the SCN5A gene by Chen et al. After more than three decades to the present, there has been much evidence showing the contributing role of other gene variants in the pathogenesis of Brugada syndrome, such as the SCN10 gene, KCNE3 gene, KCNE2 gene, ... also known as minor genes. The prevalence of minor gene variants in Brugada syndrome patients varies greatly depending on the population, ranging from 20-30% of cases with over 40 related genes. However, whether the role of these minor gene variants is the cause of Brugada syndrome is still controversial. Currently, scientists agree that the pathogenesis of Brugada syndrome is not only related to defects in the Sodium channel but also to other ion channels such as Potassium channels, Calcium channels, or associated proteins. Therefore, mutations in genes synthesizing proteins that play a role in maintaining the structure and function of these channels may lead to Brugada syndrome pathology. However, the specific relationship between gene variants and phenotype as well as actual cardiovascular events is still unclear due to the lack of clinical evidence for each type of mutation. Additionally, determining whether a mutation is truly clinically relevant is also a challenge for clinicians and can be inadequately assessed. The latest recommendations from the European Society of Cardiology (ESC) and the American Heart Association (AHA) show consensus on screening for SCN5A gene mutations for all patients diagnosed with Brugada syndrome, but do not recommend routine screening diagnoses related to other minor genes without suggestive evidence. So, from a clinical perspective, is a minor gene mutation "safer" than an SCN5A mutation? Are these mutations truly being adequately recognized?