Pulmonary vascular disease in Down's syndrome with complete atrioventricular septal defect

Am J Cardiol. 2000 Aug 15;86(4):434-7. doi: 10.1016/s0002-9149(00)00960-7.

Abstract

We sought to determine the predisposing factors of pulmonary vascular disease (PVD) in complete atrioventricular septal defect. Down's syndrome is considered a risk factor for PVD, but the progression of PVD differs in each case. Morphometric analysis in autopsied hearts showed that Rastelli type A morphology had a narrower left ventricular outlet and a wider right ventricular outlet than did type C. In 81 consecutive patients with Down's syndrome who underwent cardiac catheterization, we estimated the following variables: Rastelli subtypes, pulmonary vascular resistance, pulmonary-to-systemic flow ratio, patients' age, and operative outcome. The hemodynamic variables in those <1 year old did not differ between the groups with type A and type C. However, all 5 patients with fatal pulmonary hypertension in early infancy had type A morphology. The lung histology revealed that 3 of these patients already had irreversible PVD. At >/=1 year old, those with type A showed a significantly higher pulmonary vascular resistance (p <0.001) and a lower pulmonary to systemic flow ratio (p <0.05) than did those <1 year old. In contrast, neither of these variables in the type C group differed between those >/=1 and <1 year old. Moreover, those with type A had a greater risk of being contraindicated for surgical repair (p <0.05). We suspect, therefore, that type A morphology is an independent risk factor for PVD in those with Down's syndrome associated with this anomaly. This hemodynamic influence could become obvious once patients are >/=1 year old. It may also sometimes result in irreversible PVD even in early infancy.

MeSH terms

  • Adolescent
  • Cardiac Catheterization
  • Child
  • Child, Preschool
  • Down Syndrome / complications*
  • Female
  • Heart Septal Defects, Ventricular / complications*
  • Heart Septal Defects, Ventricular / pathology
  • Heart Septal Defects, Ventricular / surgery
  • Hemodynamics
  • Humans
  • Hypertension, Pulmonary / classification
  • Hypertension, Pulmonary / etiology*
  • Hypertension, Pulmonary / mortality
  • Infant
  • Male
  • Pulmonary Circulation
  • Risk Factors
  • Vascular Resistance