Currently, molecular characterization of ECD lesions may allow the establishment of more effective chemotherapies specifically targeting the dysfunctional pathway, i.e., BRAF inhibitors vemurafenib or dabrafenib for BRAF-mutated ECD patients, and recent studies indicate that these drugs would be also successful on CNS involvement. The gene discussed is BRAF; the disease is familial atrioventricular septal defect.