Tetralogy of Fallot with complete DiGeorge syndrome: report of a case and a review of the literature.

摘要: Complete DiGeorge 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 Fallot, confluent hypoplastic pulmonary arteries, right aortic arch, aberrant left subclavian artery. He was athymic no CD3+ T cells. CDGS diagnosed 22q11.2 deletion. The patient underwent central aortopulmonary shunt at 12 days age. died 5 weeks age awaiting performed review literature regarding CHD. found 43 cases including conotruncal defects (20) nonconotruncal (23). overall mortality rate 67%. Among 30 undergoing transplantation (bone 16 12, + 2), 53%. patients were more likely to die before (45% vs. 16%, P =.04). main cause death infection after conclude that children CHD have high mortality. Bone can improve survival, but management these risk remains challenging.