Sammanfattning
Background. Brugada syndrome was first described in 1992. Initially it was regarded as an electrocardiographic curiosity, but in recent years the syndrome has been subject to great activity in both clinical investigation and basic science due to its association with a high risk of sudden death in young and otherwise healthy individuals. The syndrome is an hereditary arrhythmogenic disease characterised by an ECG pattern with ST-segment elevation in the right precordial leads (V1 - V3), and an increased risk of polymorphic ventricular tachycardia and ventricular fibrillation. The pattern of inheritance is autosomal dominant and a mutation has been identified in only 20 - 30 % of patients with Brugada syndrome.
Material and methods. Diagnosis and treatment of the syndrome is discussed in light of a case narrative and literature retrieved from a non-systematic search of PubMed.
Results and interpretation. The electrocardiographic changes in Brugada syndrome are often dynamic or concealed and may be unmasked or modified by sodium channel blockers and several other drugs, as well as fever, alcohol and cocaine. The only effective treatment to prevent sudden death is implantation of a cardioverter-defibrillator. The challenge to clinicians is to risk stratify and define which patients require this treatment. A number of important questions in this field remain unanswered. There is still little knowledge about the prevalence, diagnostic criteria and natural history in children.