Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot.
OBJECTIVE
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.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Zeltser
Ilana
I
Division of Cardiology, The Children's Medical Center at Dallas, Dallas, Tex 75235, USA. ilana.zeltser@childrens.com
Jarvik
Gail P
GP
Bernbaum
Judy
J
Wernovsky
Gil
G
Nord
Alex S
AS
Gerdes
Marsha
M
Zackai
Elaine
E
Clancy
Robert
R
Nicolson
Susan C
SC
Spray
Thomas L
TL
Gaynor
J William
JW
D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D013504:Cardiovascular Surgical Procedures / Q000009:adverse effects; D002658:Developmental Disabilities / Q000209:etiology / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009483:Neuropsychological Tests; D011110:Polymorphism, Genetic; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000150:complications / Q000601:surgery*
D001057:Apolipoproteins E