The Brugada syndrome is a rare, inherited cardiac disease which can cause arrhythmias and sudden cardiac death. Although mostly considered a primary electrical disorder, some patients also have structural abnormalities. In an Editorial published in Europace, IEMR Professor Mathis Korseberg Stokke comments on recent translational work from the Netherlands trying to further understand the individual differences in this monogenic disease.
The paper from Gerard A Marchal and colleagues in Associate Professor Carol Ann Remme’s group characterized electrophysiological and structural pathology in mice with the same mutation associated with the Brugada syndrome, but with different genetic backgrounds. The differences between these mice illustrate the effect of genetic background. In the Editorial, Stokke and co-author Markéta Bébarová reflects on the lessons from this study, and how it illustrates biological complexity and the importance of translational research for medical progress.
