| Abstract [eng] |
In 1992, the Brugada brothers, Pedro and Josep, made a groundbreaking discovery by describing a previously unknown clinical condition that exhibited distinctive features such as right bundle branch block, persistent ST-segment elevation and sudden cardiac death in eight patients. This condition, later named as "Brugada syndrome," gained international recognition in the subsequent years (1).
 Brugada syndrome (BrS) is a rare inherited condition causing ventricular fibrillation (VF) and increasing the risk of sudden cardiac death (SCD), especially in young to middle-aged men and is more commonly diagnosed in individuals of Asian descent (2). The estimated prevalence is 1–5 in 10.000, men are more commonly affected than women and typically display a more pronounced phenotype (3,4). Patients can present with a range of symptoms such as palpitations or dizziness to recurrent syncope, nocturnal agonal breathing and a (survived) sudden cardiac death as the most severe manifestation (5). However, many patients are asymptomatic at the time of diagnosis and throughout the course of the disease (6). The typical age of onset is between the third and fifth decade of life, although the disease can occur at any age (7). Ventricular fibrillation in BrS is known to typically occur during nighttime or resting phases, and can be triggered by monomorphic ventricular extrasystoles originating from the right ventricular outflow tract (8). Additionally, supraventricular arrhythmias, particularly atrial fibrillation, are found in a significant number of BrS patients. It is important to note that fever and certain medications are among the known triggers for the occurrence of cardiac arrhythmias in BrS and should be promptly addressed to reduce the risk of sudden cardiac death (8). Proper management and early detection of BrS is crucial to prevent potentially fatal outcomes (9). The condition is characterized by changes in the electrocardiogram (ECG), including coved ST-segment elevation and a negative T-wave in the right precordial leads. These characteristic changes are commonly referred to as ECG Type 1, while it is important to note that there are also two other types present in Brugada syndrome. Intermittent alterations in the electrocardiogram (ECG) may arise in response to fever or when exposed to sodium channel blockers during provocation testing.
Although the majority of cases of Brugada syndrome are not attributed to a single causative gene variant, it is widely accepted that the SCN5A gene plays a prominent role as the main responsible gene for this condition (9). At present, the management of Brugada syndrome involves taking conservative measures in asymptomatic patients, such as avoiding drugs that can trigger arrhythmias and managing fever promptly. In contrast, symptomatic patients usually receive implantable cardioverter defibrillators (ICDs) and those with recurrent arrhythmia may benefit from treatment with quinidine or epicardial ablation (9). This thesis aims to review the contemporary understanding of BrS and practical approach to diagnosing and managing the condition. |
