Complete D i G eorge syndrome ( CDGS ) has a severe T ‐cell immunodeficiency and is fatal without thymus or bone marrow transplantation. Associated congenital heart disease ( CHD ) further complicates the clinical management. We report an infant with tetralogy of F allot, confluent and hypoplastic pulmonary arteries, right aortic arch, and aberrant left subclavian artery. He was athymic with no CD 3+ T cells. CDGS was diagnosed with 22q11.2 deletion. The patient underwent central aortopulmonary shunt at 12 days of age. The patient died at 5 weeks of age awaiting thymus transplantation. We performed a review of the literature regarding CDGS and CHD . We found 43 cases including conotruncal defects (20) and nonconotruncal defects (23). The overall mortality rate was 67%. Among 30 cases undergoing transplantation (bone marrow 16 and thymus 12, bone marrow + thymus 2), the mortality rate was 53%. The patients with conotruncal defects were more likely to die before transplantation (45% vs. 16%, P =.04). The main cause of death was infection before and after transplantation. We conclude that children with CDGS and CHD have a high mortality. Bone marrow and thymus transplantation can improve the survival, but the overall management of these high risk patients remains challenging.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99054/1/chd694.pd
