International Paediatric Brugada Syndrome Database
Brugada syndrome (BrS) is a rare and dangerous condition that affects the way electrical signals pass through the heart. The disease is usually caused by a faulty gene, which is inherited by a child from a parent. This gene carries the information to build a sodium channel in the membrane of the cardiac cell, thus regulating its electric action. A dysregulation of the electric activity of the heart can lead to dangerously fast rhythms and sudden cardiac death. Since its initial description in 1992 by the Brugada brothers much has been learned about the origins and the expression of this disease. Interestingly, some patients will never have any symptoms whilst others might have dangerous arrhythmias already in early infancy. Presently, it remains unclear how to predict when the disease becomes active and dangerous.
To gain further understanding about the individual disease expression Dr Cecilia Gonzalez Corcia, in collaboration with Prof Dr Pedro Brugada, has studied the disease in young patients in depth with the aim to establish parameters for a reliable risk stratification. This is of great importance to identify patients at high risk before they express the dangerous arrhythmias that put their lives in danger. Based on these first described cases of Brugada syndrome Dr. Cecilia Gonzales and Dr. Christine Stratmann, with the generous support of SADS UK, have launched an online registry of young patients with Brugada Syndrome from all over the world in 2021. This International Paediatric Brugada Registry currently includes more than 30 collaborating sites from 14 different countries spread over all 5 continents. With an expected enrolment of around 300 individuals this is big data for a rare disease like the Brugada syndrome. Created to follow affected individuals and their clinical course prospectively over a period of 5 years the registry can give invaluable information about early markers of risk and clinical disease expression.