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Infants with certain congenital defects, genetic variant show better postsurgical outcomes
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A minor allele of vascular endothelial growth factor A was associated with improved survival after surgery for congenital heart disease in infants, and the mechanism appears to be preservation of ventricular function.
Previous research demonstrated that the minor allele of vascular endothelial growth factor A (VEGFA) single nucleotide polymorphism rs833069 was linked to improved transplant-free survival in infants who underwent surgery for congenital heart disease, but the biological mechanism was not known.
Researchers hypothesized that the minor allele would be related to better systemic function after surgery. They analyzed 422 nonsyndromic patients with congenital heart disease who underwent cardiac surgery with cardiopulmonary bypass before age 6 months at The Children’s Hospital of Philadelphia. They presented the findings at Cardiology 2015: The 18th Annual Update on Pediatric and Congenital Cardiovascular Disease.
Constantine D. Mavroudis
Constantine D. Mavroudis, MD, MSc, and colleagues reviewed echocardiography reports and calculated change in ventricular function from preoperative study to last available study.
Genetic and echocardiographic data were available for 335 of the 422 patients, of whom 9.9% developed worse systemic ventricular function during a mean follow-up of 13.5 years.
After adjustment for covariates, the VEGFA single nucleotide polymorphism rs833069 was associated with preserved ventricular function (P = .011), and a decrease in systemic ventricular function was associated with subsequent heart transplantation or death (P < .01).
“This has the potential to completely change the way that we’re tailoring genetic counseling and surgical options for a pretty sizable group of patients who have critical congenital heart disease that requires operative intervention in the first 6 months of life,” said Mavroudis, cardiac surgical resident at the Hospital of the University of Pennsylvania. – by Erik Swain
References:
Kim DS, et al. Ann Thorac Surg. 2014;doi:10.1016/j.athoracsur.2014.03.017.
Mavroudis CD, et al. Abstract 923. Presented at: Cardiology 2015: The 18th Annual Update on Pediatric and Congenital Cardiovascular Disease; Feb. 11-15, 2015; Scottsdale, Ariz.
Disclosure: Mavroudis reports no relevant financial disclosures.
Perspective
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David Goldberg, MD
This abstract is really the tip of the iceberg in terms of genetic variation influencing long-term outcomes across a wide variety of diseases. We know that people’s genetic makeup influences the way they respond to medications, influences the way they recover from surgery, and can influence their long-term outcomes for a variety of other reasons. This is a first step toward trying to understand the way that people respond to congenital heart defects and congenital heart surgery with an understanding that different genetic substrates may lead to different responses.
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