Public Release: 

Gene raises risk of neurodevelopmental problems after infant heart surgery

Children's Hospital of Philadelphia

Philadelphia, Pa - Children with heart conditions who require surgery as infants may be more vulnerable to neurologic problems if they have a particular variety of a gene.

The gene variant may decrease the ability of neurons to repair themselves following open heart surgery, with the result that children score lower on neurodevelopmental tests at age one. The researchers, from The Children's Hospital of Philadelphia, presented findings at the Scientific Sessions of the American Heart Association today in Orlando, Fla. Cardiothoracic surgeon J. William Gaynor, M.D., presented the research.

Based on a one-year evaluation of 329 children who underwent surgery to repair a congenital heart defect at less than six months of age, the researchers found that children carrying the apolipoprotein E2 (APOE2) gene variant were significantly more likely to have worse outcomes in a developmental evaluation of cognitive and motor skills compared to children who underwent heart surgery and did not have the APOE2 gene. APOE2 occurs in approximately 8 percent of the population.

Apolipoprotein genes, which help to regulate how the body transports cholesterol in the blood, also have incompletely understood effects on neurons in the brain. The apolipoprotein E4 gene(APOE4) , which is more common than APOE2, has been studied in adults, for whom it confers a higher risk of suffering Alzheimer's disease and of recovering after brain injury. However, the researchers did not find that APOE4 had an effect on neurodevelopment in children in the study.

The researchers found the association between APOE2 and lower neurodevelopmental scores was consistent, even after they controlled for variables such as gestational age, age at surgery, ethnicity, socioeconomic status, type of cardiac defect, and surgical techniques.

The Cardiac Center at The Children's Hospital of Philadelphia is a comprehensive center for the care of infants, children and young adults with congenital and acquired heart disease. It was recently ranked as the best pediatric cardiology program in the United States by Child magazine.


Founded in 1855 as the nation's first pediatric hospital, The Children's Hospital of Philadelphia is ranked today as the best pediatric hospital in the nation by U.S. News & World Report and Child magazine. Through its long-standing commitment to providing exceptional patient care, training new generations of pediatric healthcare professionals and pioneering major research initiatives, Children's Hospital has fostered many discoveries that have benefited children worldwide. Its pediatric research program is among the largest in the country, ranking second in National Institutes of Health funding. In addition, its unique family-centered care and public service programs have brought the 430-bed hospital recognition as a leading advocate for children and adolescents from before birth through age 19. For more information, visit .

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