Personalizing care for congenital heart disease through genetics

Published on February 26th, 2020 by Christina Echegaray.

With nearly $3 million in funding from the National Institutes of Health, researchers in the Division of Cardiology at Monroe Carell Jr. Children’s Hospital at Vanderbilt have embarked on a five-year journey to study how genes affect heart surgery outcomes in children with congenital heart disease (CHD) with a goal of improving care.

“The overall goal of our research center is to improve clinical outcomes by implementing personalized medicine, a key institutional strength,” said Prince Kannankeril, MD, MSCI, professor of Pediatrics in the Division of Cardiology and principal investigator for the study. “Our goal is to build an evidence base of actionable genetic variants that predispose children to serious postoperative complications to improve the care of patients with CHD.”

CHD is the most common human congenital malformation and is a leading cause of infant mortality in the United States. Roughly half of children with CHD require surgical repairs, placing them at risk for postoperative complications, such as arrhythmias.

By identifying genetic variants that affect adverse outcomes after CHD surgery, cardiologists can perform pre-operative genotyping and incorporate genetic and clinical risk factors into individualized treatment plans.

To achieve these goals, the research team established an ongoing cohort of more than 2,500 children undergoing surgical procedures for CHD with detailed phenotypic information and DNA samples. They hope to expand the consented biobank to more than 3,500 patients and more than 5,000 operations by the end of the funding cycle.

This research is supported by grant HD-084461.

– by Kelsey Herbers