Increased Incidence of Idiopathic Persistent Pulmonary Hypertension in Down Syndrome Neonates

Abstract

Down syndrome (DS) patients have an increased risk of developing pulmonary hypertension later in life compared to age-matched controls. The goal of this study was to determine if the incidence of persistent pulmonary hypertension of the newborn (PPHN) is also higher in neonatal DS patients compared to the general population. A retrospective chart review of DS patients admitted during a 3-year period to the neonatal intensive care unit was performed. DS patients with meconium aspiration syndrome, pulmonary infections, or pulmonary space-occupying lesions were excluded. DS patients were divided into four groups based on treatment and consisted of no intervention (A), supplemental oxygen (B,) mechanical ventilation use (C), and inhaled nitric oxide administration (D). Group D was defined as having PPHN. z test of the difference between sample and known population, chi-square, t-test, and analysis of variance with Tukey adjusted post hoc test were used for analysis. p<0.05 was considered significant. A total of 58 patients met inclusion criteria. Twenty-four DS patients were in group A, 17 in group B, 10 in group C, and 7 in group D. There was no difference between the four groups for gender (males: 10, 5, 5, and 5, respectively), gestational age (36.4, 38.2, 36.4, and 36.4 weeks, respectively), weight (2.8, 3.0, 2.4, and 3.0 kg, respectively), or the presence of congenital heart defects (17, 10, 6, and 1, respectively). The estimated number of DS patients born in the state of Ohio during this period was 598; therefore, the incidence of PPHN in DS was 1.2%. The reported incidence of PPHN is 0.1%. The reported incidence of PPHN was significantly lower versus the incidence of PPHN in DS (z=2.7, p=0.007). It was concluded that DS patients have an increased incidence of PPHN compared to historical controls regardless of baseline demographics.

Serum Endostatin Is a Genetically Determined Predictor of Survival in Pulmonary Arterial Hypertension

“…Although not included in this study population, Down syndrome (trisomy 21) accounts for more than 10% of pediatric PAH (40,41) and appears to have an accelerated and more severe disease course than patients matched for similar congenital heart defects (42). Intriguingly, patients with Down syndrome have elevated circulating ES levels secondary to the duplication of Col18a1 encoded on chromosome 21 (43).…”

Simultaneous Transcatheter Device Closure of ASD, VSD and PDA in an Infant with Down Syndrome

“…Infants under one year of age are successfully treated with such procedures [5]. Increased incidence and rapid progression of pulmonary hypertension in children with Down syndrome has been well known [6]. Hence, we decided for simultaneous closure of three defects in our patient.…”

Clinical Syndromes and Associations with Persistent Pulmonary Hypertension of the Newborn

“…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). They did not have cardiac defects other than a PDA.…”

“…They have microgenia (a small chin), an unusually round face, macroglossia, and almond shape of they eye caused by an epicanthic fold of the eyelid, upslanting palpebral fissures, short ribs, a single transverse palmar crease, poor muscle tone, and a larger than normal space between the first and second toes. The incidence of pulmonary hypertension in the newborn has been reported in one retrospective series to be as high as 6 percent of all Down syndrome births over a 4-year period (Cua, Blankenship, North, Hayes, & Nelin, 2007). There have been a number of mechanisms to suggest how some neonates develop protracted pulmonary hypertension.…”