Sindrome di Brugada: guida pratica per il pediatra di base

Brugada syndrome is an autosomal dominant inherited channelopathy affecting the sodium channel and is characterized by predisposition to syncope and sudden death. It typically presents in young adults, but it also presents in the paediatric population, especially during fever, even if the prevalence is low compared with the adult population. The diagnostic ECG pattern is characterized by coved-type ST-segment elevation in the right precordial leads, occurring spontaneously or after provocative drug test with IV administration of Class I antiarrhythmic drug. Nevertheless, the electrocardiographic changes may vary and transient or concealed forms of the syndrome further complicate diagnosis, necessitating thorough evaluation and close follow-up. The clinical presentation of Brugada syndrome may range from asymptomatic individuals to those who have experienced syncope or sudden cardiac arrest. Nonetheless, the syndrome is underdiagnosed because of its elusive symptoms and the absence of abnormal findings between episodes. Additionally, certain triggers such as fever, certain medications and alcohol consumption may unmask the electrocardiographic changes and provoke arrhythmias in susceptible individuals. Given its elusive nature, early diagnosis and risk stratification are crucial in identifying individuals who may benefit from ICD implantation, which is considered the mainstay of treatment for high-risk patients, or pharmacological interventions.