BRAF and familial atrioventricular septal defect: Interestingly, it has been reported that treatment with the BRAF inhibitor vemurafenib can lead to unprecedented clinical and radiographic improvements in ECD patients bearing the BRAFV600E mutation, but it has so far only been used in a very small number of patients enrolled in clinical trials.23,24 Furthermore, as BRAF is the final downstream component of the JAK-STAT pathway, it can be speculated that JAK1/2 inhibitors such as ruxolitinib could also be used to treat ECD.