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

Ilana Zeltser, Gail P. Jarvik, Judy Bernbaum, Gil Wernovsky, Alexander Nord, Marsha Gerdes, Elaine Zackai, Robert Clancy, Susan C. Nicolson, Thomas L. Spray, J. William Gaynor

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

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 ε2 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 ε2 allele were important risk factors for neurodevelopmental dysfunction and accounted for some interindividual differences in outcome.

Original languageEnglish (US)
Pages (from-to)91-97
Number of pages7
JournalJournal of Thoracic and Cardiovascular Surgery
Volume135
Issue number1
DOIs
StatePublished - Jan 1 2008
Externally publishedYes

Fingerprint

Tetralogy of Fallot
Apolipoprotein E2
Alleles
Pulmonary Atresia
Congenital Heart Defects
Neurologic Examination
Apolipoproteins E
Child Development
Reference Values
Genotype
Phenotype

ASJC Scopus subject areas

  • Surgery
  • Pulmonary and Respiratory Medicine
  • Cardiology and Cardiovascular Medicine

Cite this

Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. / Zeltser, Ilana; Jarvik, Gail P.; Bernbaum, Judy; Wernovsky, Gil; Nord, Alexander; Gerdes, Marsha; Zackai, Elaine; Clancy, Robert; Nicolson, Susan C.; Spray, Thomas L.; Gaynor, J. William.

In: Journal of Thoracic and Cardiovascular Surgery, Vol. 135, No. 1, 01.01.2008, p. 91-97.

Research output: Contribution to journalArticle

Zeltser, I, Jarvik, GP, Bernbaum, J, Wernovsky, G, Nord, A, Gerdes, M, Zackai, E, Clancy, R, Nicolson, SC, Spray, TL & Gaynor, JW 2008, 'Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot', Journal of Thoracic and Cardiovascular Surgery, vol. 135, no. 1, pp. 91-97. https://doi.org/10.1016/j.jtcvs.2007.04.074
Zeltser, Ilana ; Jarvik, Gail P. ; Bernbaum, Judy ; Wernovsky, Gil ; Nord, Alexander ; Gerdes, Marsha ; Zackai, Elaine ; Clancy, Robert ; Nicolson, Susan C. ; Spray, Thomas L. ; Gaynor, J. William. / Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot. In: Journal of Thoracic and Cardiovascular Surgery. 2008 ; Vol. 135, No. 1. pp. 91-97.
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T1 - Genetic factors are important determinants of neurodevelopmental outcome after repair of tetralogy of Fallot

AU - Zeltser, Ilana

AU - Jarvik, Gail P.

AU - Bernbaum, Judy

AU - Wernovsky, Gil

AU - Nord, Alexander

AU - Gerdes, Marsha

AU - Zackai, Elaine

AU - Clancy, Robert

AU - Nicolson, Susan C.

AU - Spray, Thomas L.

AU - Gaynor, J. William

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N2 - 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 ε2 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 ε2 allele were important risk factors for neurodevelopmental dysfunction and accounted for some interindividual differences in outcome.

AB - 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 ε2 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 ε2 allele were important risk factors for neurodevelopmental dysfunction and accounted for some interindividual differences in outcome.

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