Diagnosis and management of Brugada Syndrome

Brugada Syndrome (BS) is a cardiac ion channel disorder linked to loss of function mutation in the SCN5A gene which affects the sodium current. The diagnosis is made on the ECG showing characteristic cove-shaped ST elevation in leads V(1) to V(3) in the absence of structural heart disease, electrolyte disturbance or ischaemia. This condition is genetically transmitted as an autosomal dominant syndrome with incomplete penetrance. It is responsible for 20% of all sudden deaths in those without structural heart disease. Diagnosis of BS can be difficult as the ECG changes are dynamic and variable. Genetic mutation in SCN5A gene is found in 25-30% of patients with Brugada Syndrome. Patients may present with syncope due to polymorphic VT or resuscitated sudden death in the third or fourth decade of life. Symptoms frequently occur at night or at rest and fever is a common trigger in children. Patients presenting with syncope or resuscitated sudden cardiac death should have an implantable defibrillator. Management of asymptomatic patients is controversial and risk stratification is required. www.brugadadrugs.org gives a list of drugs that should be avoided by patients suffering from BS.