Validation of Semi-quantitative Brain Dysmaturation Score in Congenital Heart Disease: Correlated with Executive Function and Ciliary Motion

Abstract

Motivation: Develop and validate point-of-care MRI-based evaluation method for scoring brain dysplasia/abnormality (BDS) in congenital heart disease (CHD) that incorporates morphological alterations and subcortical structures. Goal(s): Further develop our BDS system, previously validated in infants with CHD, in the older pediatric and young adult CHD population. Approach: Evaluate brain dysplasia from T1 and T2 structural MRI of CHD and control participants and compare differences. Correlate BDS with executive function outcomes and genetic ciliary motion (CM) abnormalities. Results: CHD group had higher total and subcortical dysplasia, especially single ventricle CHD group. Higher BDS (greater dysplasia) correlated with poorer executive function outcomes and greater CM abnormality. Impact: Our BDS method is sensitive to dysmaturational features in CHD and correlated with executive function outcomes and CM - genetic-basis of CHD pathogenesis. Since it employs common point-of-care MRI techniques, it could be adapted for wider application in CHD brain evaluation.