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Brugada syndrome (BrS) is a genetic heart disorder due to abnormal ion channel function characterized by ST segment elevation on ECG (at leads V1-3) in the absence of structural heart disease. It is associated with increased risk for syncope (unexplained fainting), ventricular tachyarrhythmia and sudden cardiac death. Brugada syndrome is thought to be responsible for 4-12% of unexpected sudden deaths and for up to 20% of all sudden death in individuals with an apparently normal heart. Brugada syndrome occurs worldwide and is estimated to affect 5 per 10,000 individuals of all ethnicities, with some regional differences. However, men are 8-10 times more likely than women to express symptoms of Brugada syndrome.
The diagnosis of BrS is based on clinical history, ECG findings and family history. Typically, the disorder manifests in patients between ages 20 to 40, but symptoms have been reported from infancy through late life. Most individuals with BrS are asymptomatic. The most common clinical symptoms are syncope and cardiac arrest that occur at rest, during sleep, or with high fever. Some patients with BrS have supraventricular arrhythmias. Some patients will develop symptoms of BrS after taking certain medications such as sodium channel blockers. BrS may be present even in the absence of any clinical symptoms and in some patients sudden cardiac death occurs without any preceding symptoms and without an identifiable cause at autopsy. Additionally, many symptoms of BrS are similar to other heart conditions that could account for either the ECG findings or syncope seen in patients and could be included in a differential diagnosis. These include arrhythmogenic right ventricular cardiomyopathy (ARVC), atypical right bundle branch block, left ventricular hypertrophy, early repolarization, acute myocardial infarction, and acute pericarditis.