ABSTRACT
Background: Despite recent advances in cardiology, sudden cardiac death remains to be a significant challenge, and the precise cause for a large proportion of sudden cardiac arrests remains unclear. Case summary: A 48-year-old fit and healthy medical personnel with no previous medical illness suffered from ventricular fibrillation at his workplace and was successfully resuscitated. Although the basal electrocardiogram did not show a Brugada pattern, we identified mutations in the CACNB2 genes (Chr10: 18150879 and Chr10: 18539538 variants), which are pathogenic variants linked to the Brugada syndrome. A transthoracic echocardiogram and cardiac magnetic resonance revealed mitral valve prolapse (MVP) with characteristics of Barlow's disease, as well as malignant MVP features such as the presence of bileaflet prolapse, mitral annular disjunction, and inferior and inferolateral left ventricular wall fibrosis. Discussion: To the best of our knowledge, this is the first case report on sudden cardiac arrest in a patient with malignant MVP with a CACNB2 gene mutation. This study highlights the merit for further research to establish standardized criteria for the diagnosis of malignant MVP, for the primary prevention of sudden cardiac death. Cardiac MR should also be part of the diagnostic evaluation of MVP to allow for the early detection of arrhythmogenic features, especially left ventricular fibrosis. We also suggest that the utility of genetic testing should be complementary to the current diagnostic tools for unexplained cardiac arrest and patients with MVP. This would help to better understand the genetic basis between these two conditions for better risk stratification and early cardiac intervention.
