Lesson of the week: Variable presentation of Brugada syndrome: lessons from three generations with syncope

摘要

General practitioners see many patients with syncope but in only a few cases is this due to a primary cardiac arrhythmia. Nevertheless, identifying such patients is important because some familial arrhythmias are associated with a risk of sudden death. We describe how a recently defined arrhythmia, Brugada syndrome, caused syncope in three generations of one family. The cases show the importance of taking an adequate family history when assessing patients with syncope and how this information is crucial to diagnosis and management. Brugada syndrome is an inherited cardiac disease causing ventricular tachyarrhythmias in patients with structurally normal hearts. Since its first description in 1992, the number of cases reported worldwide has grown substantially, and it is thought to account for many cases of unexpected sudden death. The syndrome is characterised by a history of syncope or cardiac arrest and a characteristic electro-cardiographic pattern: right bundle branch block and ST segment elevation in V1 to V3. Most cases are inherited as an autosomal dominant trait, explaining a strong family history of syncope or sudden death. Some patients have normal resting electrocardio-graphic appearances but the classic changes can be induced by giving ajmaline, an antiarrhythmic drug.