The sodium-channelopathy that went many years before being described, now increasingly well-known. More interestingly, the phenotype is apparently autosomal dominant in inheritance. These investigators use this inheritance to retroactively diagnose deceased family members with a Brugada cause to their sudden cardiac death.
They found, unfortunately, that not only were most individuals who died of Brugada young, most were asymptomatic – and of the five patients for whom they could find an antemortem EKG, only one of them had a typical Type I Brugada pattern, and one had a single lead with a Type III pattern.
I think my take-home point from this article is that, in the young patients presenting with syncope, it’s important not just to do the EKG, but also to enquire regarding family history of sudden cardiac death – and then hope whatever cardiologist you refer them to is insightful enough to order a amajaline provocation test if needed.