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

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.