Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome

Abstract

The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome (DS) and to assess its impact on neonatal factors. It was a prospective study of a birth cohort of children with DS born between 2003 and 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU). A CHD occurred in 43% of 482 children with trisomy 21. Atrioventricular septal defect was found in 54%, ventricular septal defect in 33.3% and patent ductus arteriosus in 5.8%. The incidence of PPHN in DS was 5.2%, which is significantly higher than the general population (p < 0.001). The reported mortality in newborns with DS was overall 3.3% and was still significant higher in children with a CHD versus no CHD (5.8% versus 1.5%) (p = 0.008). The presence of CHD in children with DS had no influence on their birth weight, mean gestational age and Apgar score. In neonates with DS, we found not only a 43% prevalence of CHD, but also a high incidence of PPHN at 5.2%. Early recognition of the cardiac condition of neonates with DS seems justified.

Trends in Congenital Heart Defects in Infants With Down Syndrome

“…In the Netherlands, AVSD constituted 54% of diagnosed congenital heart defects, 26 whereas in the United States, the corresponding rate was 39%. 27 However, the European Surveillance of Congenital Anomalies Central Register, including populationbased data from European countries including Sweden, recently reported an AVSD rate of 32%.…”

What people with Down Syndrome can teach us about cardiopulmonary disease

“…Infants with Down syndrome have a high rate of PAH that is disproportionate for their age [55][56][57], and ∼30% of adults with Down syndrome have septal defects and higher associated mortality compared to those without Down syndrome [58]. Persistent pulmonary hypertension of the newborn, another group 1 PAH disease, is quite prevalent in Down syndrome [59][60][61]. The combination of upper respiratory tract malformations, alveolar capillary dysplasia, hypoxia and hypercapnia may collectively promote development of pulmonary hypertension [62,63].…”

Clinical Syndromes and Associations with Persistent Pulmonary Hypertension of the Newborn

“…One study looked at the BMPR2 mutation, a gene mutation resulting in increase NO production and showed an increased occurrence in a subset of DS patients (Roberts et al, 2004). The mortality in DS overall is about 3.3% but is much higher (5.8% versus 1.5%) in infants with congenital heart disease compared to those who do not (Weijerman et al, 2010). In a subset of 58 patients with Down syndrome there were 7 who met criteria for PPHN of which 2 died (Cua, et al, 2007).…”