Clinical diagnosis of tetralogy of Fallot children with concurrent DiGeorge syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective To explore the clinical diagnosis of tetralogy of Fallot( TOF) children with concurrent DiGeorge syndrome ( DGS ) . Methods Retrospective analyses were conducted for the clinical characteristics of 715 TOF children with concurrent DGS at Henan Provincial People′s Hospital and the Third Affiliated Hospital of Zheng-zhou University from January of 2008 to October of 2014. Among them,there were 78 definite cases of thymic aplasia (DGS group),including 45 boys and 33 girls with an age range of(9. 12±4. 35) months and a body mass range of (7. 28±2. 34) kg. And the remainder was designated as non-DGS group(NDGS group),including 387 boys and 250 girls with an age range of(8. 21±5. 61) months and a body mass range of(8. 19±3. 47) kg. In DGS group,genetic screening uncovered 10 cases of chromosome 22q11. 2 gene deletion. And based upon this result,DGS group was fur-ther divided into genetic and clinical diagnosis subgroups. The genetic diagnosis group had 10 cases,including 6 boys and 4 girls with an age range of(8. 12±4. 15) months and a body mass range of(6. 28±2. 74) kg,the clinical diagnosis group had 68 cases,including 39 boys and 29 girls with an age range of(8. 19±4. 37) months and a body mass range of (7. 05±2. 39) kg. Results No statistical difference existed in age,body mass or preoperative developmental status of pulmonary vasculature between DGS group and NDGS group(P>0. 05). And the preoperative incidence of recurrent pneumonia was obviously higher in DGS group than that in NDGS group(P0. 05). And an inter-group comparison of T lymphocyte immunity defect had no statistical difference(P>0. 05). The duration of on-machine and intensive care unit stay was markedly longer in DGS group than that in NDGS group(P0. 05). And an inter-group comparison of T lymphocyte immunity defect had no statistical difference ( P>0. 05 ) . Conclusions With diverse clinical manifestations,DGS patients may have non-specific findings of cellular immunity defect,hypocalcemia or facial malformation. TOF children with concurrent thymic aplasia should raise an alert so that effective interventions may be adopted to boost their long-term quality of life.