Zeltser Ilana, Jarvik Gail P, Bernbaum Judy, Wernovsky Gil, Nord Alex S, Gerdes Marsha, Zackai Elaine, Clancy Robert, Nicolson Susan C, Spray Thomas L, Gaynor J William
Division of Cardiology, The Children's Medical Center at Dallas, Dallas, Tex 75235, USA.
J Thorac Cardiovasc Surg. 2008 Jan;135(1):91-7. doi: 10.1016/j.jtcvs.2007.04.074.
Adverse neurodevelopmental sequelae are common in children with congenital heart defects. Tetralogy of Fallot is part of the clinical phenotype of many genetic syndromes. We evaluated the determinants of neurodevelopmental outcome in patients with tetralogy of Fallot.
We performed a subgroup analysis of children with tetralogy of Fallot undergoing complete repair before 6 months of age who were enrolled in a trial assessing apolipoprotein E genotype as a predictor of neurodevelopmental outcome. Assessment included genetic evaluation, neurologic examination, and the Bayley Scales of Infant Development-II, yielding the Mental Developmental Index and Psychomotor Developmental Index.
Sixty children were tested at 1 year of age. A confirmed or suspected genetic syndrome was identified in 18.3%. The mean Mental Developmental Index was 89 +/- 13, and the mean Psychomotor Developmental Index was 81 +/- 17. Scores for the Mental Developmental Index (76 +/- 13 vs 92 +/- 11) and Psychomotor Developmental Index (63 +/- 13 vs 85 +/- 15) were significantly lower for patients with genetic syndromes. The presence of a genetic syndrome was a predictor of lower Mental Developmental Index and Psychomotor Developmental Index (P = .002 and P = .001). The presence of tetralogy of Fallot with pulmonary atresia and the apolipoprotein E epsilon2 allele were predictive of a lower Mental Developmental Index (P = .001 and P = .035). No other preoperative or operative variables were predictive of worse neurodevelopmental outcome.
At 1 year of age after repair of tetralogy of Fallot, most patients had neurodevelopmental scores within the normal range. Genetic syndromes and the apolipoprotein E epsilon2 allele were important risk factors for neurodevelopmental dysfunction and accounted for some interindividual differences in outcome.
先天性心脏病患儿常出现不良神经发育后遗症。法洛四联症是许多遗传综合征临床表型的一部分。我们评估了法洛四联症患者神经发育结局的决定因素。
我们对6个月龄前接受完全修复的法洛四联症患儿进行了亚组分析，这些患儿参加了一项评估载脂蛋白E基因型作为神经发育结局预测指标的试验。评估包括基因评估、神经学检查以及贝利婴儿发育量表第二版，得出心理发育指数和精神运动发育指数。
60名儿童在1岁时接受了测试。18.3%的患儿被确诊或疑似患有遗传综合征。心理发育指数的平均值为89±13，精神运动发育指数的平均值为81±17。患有遗传综合征的患者，其心理发育指数（76±13对92±11）和精神运动发育指数（63±13对85±15）得分显著更低。遗传综合征的存在是心理发育指数和精神运动发育指数较低的预测因素（P = 0.002和P = 0.001）。伴有肺动脉闭锁的法洛四联症以及载脂蛋白Eε2等位基因的存在可预测较低的心理发育指数（P = 0.001和P = 0.035）。没有其他术前或手术变量可预测更差的神经发育结局。
法洛四联症修复术后1年时，大多数患者的神经发育评分在正常范围内。遗传综合征和载脂蛋白Eε2等位基因是神经发育功能障碍的重要危险因素，并解释了部分个体间结局差异。
