Genetic Basis of Neurodevelopmental Outcomes in Congenital Heart Disease

• Applicant: Dr. Clara Sandmann
• Subject Area: Pediatric and Adolescent Medicine
• Term: since 2025
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 575054642

Congenital heart diseases are among the most common malformations in newborns. Thanks to modern medicine, significantly more children with congenital heart diseases survive today. However, despite improved survival rates, many affected children and adults show cognitive development anomalies throughout their lives. These include issues with language, motor skills, learning, attention, memory, and social behavior. Until recently, these difficulties have mainly been explained by the effects of heart surgeries or reduced oxygen supply to the brain. Recent findings, however, show that even before birth, the brain and heart of some affected children develop differently from those of healthy children, possibly due to genetic causes. There is evidence that certain genetic changes can lead to both heart diseases and developmental disorders of the brain. Some of these affected genes are particularly active in both the developing heart and brain. The goal of this project is to better understand how genetic changes influence the development of the brain and cognitive abilities in children with congenital heart diseases. A large, pre-existing data collection, built by leading pediatric heart centers in the USA, will be used for this purpose. This database contains genetic information, MRI brain images, as well as results from extensive intelligence and development tests of over 1,000 children with congenital heart diseases. The project has three main objectives: 1. Investigation of genetic risk variants: It will be analyzed whether certain genetic changes occur more frequently in children with congenital heart diseases and abnormal brain structures. 2. Linking with developmental trajectories: It will be examined whether these genetic variants have long-term effects on cognitive abilities, academic performance, and social development. 3. Identification of independent predictors: It will be determined whether genetic traits and brain structure anomalies can independently predict a child’s neurocognitive development and whether this allows for targeted prediction of risk groups. The long-term goal is to identify at-risk groups early and provide targeted support through specialized therapies or accompanying educational offerings.

• DFG Programme: WBP Fellowship
• International Connection: USA
• Host: Professorin Dr. Sarah Morton, Ph.D.