Treatments that block the pro-inflammatory pathway of IL-1 or the RAS/RAF/ MEK/ERK tumorigenic mutational network have shown efficacy in refractory ECD [4–6]; however, some of these treatments (e.g., the BRAF inhibitors, vemurafenib, and dabrafenib) demonstrated only partial efficacy and caused severe adverse effects [7, 8]. Here, MAP2K7 is linked to familial atrioventricular septal defect.