AKT1 and familial atrioventricular septal defect: As in LCH, the multisystem involvement by ECD and evidence from 4/7 cases submitted to this workshop, which showed concurrent or metachronous occurrence of myeloid neoplasms [AML or chronic myelomonocytic leukemia (CMML)], suggest that, like multisystemic LCH, ECD may also be a neoplastic hematopoietic disorder derived from aberrant progenitor cells which in this case have acquired MAPK pathway or PI3K-AKT pathway gene mutations.