Mechanisms underlying early development of pulmonary vascular obstructive disease in Down syndrome: An imbalance in biosynthesis of thromboxane A2 and prostacyclin

Am J Med Genet A. 2010 Aug;152A(8):1919-24. doi: 10.1002/ajmg.a.33555.

Abstract

Patients with Down syndrome (DS) and a left-to-right shunt often develop early severe pulmonary hypertension (PH) and pulmonary vascular obstructive disease (PVOD); the pathophysiological mechanisms underlying the development of these complications are yet to be determined. To investigate the mechanisms, we evaluated the biosynthesis of thromboxane (TX) A(2) and prostacyclin (PGI(2)) in four groups of infants, cross-classified as shown below, by measuring the urinary excretion levels of 11-dehydro-TXB(2) and 2,3-dinor-6-keto-PGF(1alpha): DS infants with a left-to-right shunt and PH (D-PH, n = 18), DS infants without congenital heart defect (D-C, n = 8), non-DS infants with a left-to-right shunt and PH (ND-PH, n = 12), and non-DS infants without congenital heart defect (ND-C, n = 22). The urinary excretion ratios of 11-dehydro-TXB(2) to 2,3-dinor-6-keto-PGF(1alpha) in the D-PH, D-C, ND-PH, and ND-C groups were 7.69, 4.71, 2.10, and 2.27, respectively. The ratio of 11-dehydro-TXB(2) to 2,3-dinor-6-keto-PGF(1alpha) was higher in the presence of DS (P < 0.001), independently of the presence of PH (P = 0.297). The predominant biosynthesis of TXA(2) over PGI(2), leading to vasoconstriction, was observed in DS infants, irrespective of the presence/absence of PH. This imbalance in the biosynthesis of vasoactive eicosanoids may account for the rapid progression of PVOD in DS infants with a left-to-right shunt.

MeSH terms

  • 6-Ketoprostaglandin F1 alpha / analogs & derivatives
  • 6-Ketoprostaglandin F1 alpha / urine
  • Child, Preschool
  • Cross-Sectional Studies
  • Down Syndrome / complications
  • Down Syndrome / metabolism*
  • Epoprostenol / biosynthesis*
  • Female
  • Heart Defects, Congenital / etiology
  • Heart Defects, Congenital / metabolism*
  • Humans
  • Hypertension, Pulmonary / etiology
  • Hypertension, Pulmonary / metabolism*
  • Infant
  • Lung Diseases, Obstructive / etiology
  • Lung Diseases, Obstructive / metabolism*
  • Male
  • Prognosis
  • Pulmonary Heart Disease / etiology
  • Pulmonary Heart Disease / metabolism*
  • Radioimmunoassay
  • Thromboxane A2 / biosynthesis*
  • Thromboxane B2 / analogs & derivatives
  • Thromboxane B2 / urine

Substances

  • Thromboxane B2
  • Thromboxane A2
  • 6-Ketoprostaglandin F1 alpha
  • 2,3-dinor-6-ketoprostaglandin F1alpha
  • 11-dehydro-thromboxane B2
  • Epoprostenol