A study to determine the prevalence of pulmonary arterial hypertension in children with Down syndrome and congenital heart disease

BackgroundDown syndrome (DS) is a common chromosomal abnormality associated with congenital heart disease (CHD). These cardiac abnormalities are known to be associated with pulmonary arterial hypertension (PAH).MethodsThe aim of this study was to assess the prevalence of PAH in DS children with CHD and to compare it with PAH prevalence in non-syndromic children with CHD. It was a cross-sectional study including all children presenting to Cardiology Department at a tertiary care center between Jan 2007 and Dec 2010.ResultsThirty-five DS children with CHD were compared with 38 non-syndromic children with CHD. Atrioventricular septal defect (AVSD, 13/35) was the commonest CHD among DS children while isolated VSD (26/38) accounted for maximum cases in non-syndromic CHD. PAH was more prevalent among DS children with CHD (18/42) than among the control group (7/38, p = 0.038). In addition, 14/19 patients with AVSD in the entire cohort developed PAH.ConclusionDS children with CHD have a higher predisposition to develop PAH, and the likelihood is highest with underlying AVSD.