Brugada syndrome (BS) is an inherited arrhythmogenic disorder characterized by coved-type ST-segment elevation in the right precordial leads, associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life.
The prevalence of BS in the pediatric population is low compared with the adult population. However, over the last 5-10 years there has been growing evidence in the literature of onset of the disease during childhood.
Most pediatric BS cases are asymptomatic. However, there are selected patients who manifest the disease at different levels of the heart conduction system at a young age, leading to ventricular arrhythmias and SCD. Early expression of the disease can be triggered by multiple factors, including genetic substrate, hormonal changes and as yet unknown environmental exposures.
The diagnosis and management of BS among young patients remains challenging. The PI and mentor have investigated the clinical characteristics, prognosis, and risk of young patients with BS, based on a 30-year prospective database initiated with the first pediatric patient in which the disease was described. Previous studies by our group have described the spectrum of electrical and clinical disease in a young population (1), identified markers of risk for future arrhythmic events (2), and constructed a clinical algorithm to identify those young individuals at high risk (3).
The institutional database on which we based our studies included almost 2000 patients with confirmed BS, coming more than 500 families. Of these, 253 patients were
< 20 years of age at the time of diagnosis. However, only one third of the young patients presented with clinical disease, making if difficult to obtain statistical significance in any predictive model.
Moreover, the co-factors that determine the early clinical expression of the disease are yet not completely understood. Certain racial and genetic factors have already been identified, due to the high prevalence of mortality due to BS in specific regions of the globe (4). Other factors, including the specific type of underlying genetic mutation and additional racial and environmental factors remain less well understood.
The aim of this project is to establish an international pediatric BS registry bringing together cases from different world regions, genetic characteristics and environmental backgrounds.
We strongly believe that this objective can only be fulfilled with the support of many of our community members working in various parts of the world. Up to now, expertise in pediatric BS has been considered to be the domain of adult electrophysiologists, and most pediatric patients have been evaluated by extrapolation of adult-focused strategies. We strongly believe that it is time that our community becomes active in this rare but important disease, with the aim to better understand its pathophysiology and clinical manifestations, and to ultimately develop pediatric-specific management strategies.