The genetic contribution to mild neurodevelopmental impairments in congenital heart disease: direct or indirect effect

Research project

Children with congenital heart defect have an increased risk of developmental disabilities. So far, it is largely unknown whether this is a secondary result of decreased blood flow due to the heart defect or if it is a primary genetic problem that may be linked to the etiology of the heart defect. At the University Children’s Hospital, Bea Latal established a unique longitudinal cohort of patients with congenital heart defects who have been followed since birth within the framework of the  Teenheart study and underwent repeated, extensive neurodevelopmental and behavioral assessments.  The aim of the Teenheart study is to determine the spectrum of executive function impairments and their neurostructural correlates in these children at adolescent age. 

Within the URPP project, we aim to identify potentially causative genetic variants in the cohort and to correlate them with the clinical data. Identifying these new genetic variants in children with congenital heart disease and development delay will then allow other members of the URPP AdaBD to develop animal models to test for the functional significance and affected pathways in these genetic alterations.

Research groups

Principal investigators: Bea Latal, Anita Rauch

Researcher: Nils Braun, Melanie Ehrler