BRAF and familial atrioventricular septal defect: The mainstay of therapy for ECD is interferon-α, which demonstrated improved overall survival compared with other therapies in a case series of 53 patients with central nervous system manifestations of ECD.3 Anakinra, a recombinant interleukin-1 receptor antagonist, has also been shown to be effective in multiple case reports but is considered to be a second-line therapy.1 In ECD patients with BRAF V600E mutation, selective inhibition of BRAF with vemurafenib appears very promising and is currently being evaluated in prospective clinical trials.1