Improved Diagnosis and Therapy of Critical Congenital Heart Defects Using a Simplified Patient-Specific Computer Modelling and Circulating Biomarkers

Congenital heart defect (CHD) is the most common type of birth defect and the leading cause of infant death.

Approximately 1 in 4 patients with CHD have a complex, critical CHD (c-CHD), which typically needs surgical/transcatheter therapy during the first months of life and reinterventions throughout lifetime.

In these patients, early diagnosis and proper pre-interventional assessment are imperative to assure best clinical outcome.

Given the significant heterogeneity of c-CHD, personalized assessment is crucial to optimize therapy and prevent severe complications. 1.Our recent pilot study suggests that early markers of heart disease can be assessed from dried blood spot (DBS) samples via neonatal PKU screening.

We aim to assess whether the DBS-based assays from routine neonatal PKU screening combined with routine pulse oximetry (POX) screening can further improve neonatal diagnosis of c-CHD. 2.

We also aim to assess whether circulating biomarkers for adverse cardiac remodeling may improve selection of older children with c-CHD needing reintervention. 3.

We have recently proposed a simplified computational fluid dynamics (CFD) method to simulate reintervention in older children with single ventricle (SV), a c-CHD with significant morbidity risk.

We aim to assess whether this method may aid in planning interventions in younger children wih SV as well as in children with other c-CHD such as Tetralogy of Fallot (ToF) and neonatal coarctation (Coa).