Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels

Genet Couns. 1996;7(4):249-55.

Abstract

The association of pelvi-ureteric junction obstruction (PUJO) and rapidly fatal persistent pulmonary hypertension of the newborn (PPHN) has been observed in two male siblings. PUJO was also observed in a maternal uncle, whose daughter suffered from vesico-ureteral reflux (VUR). In both patients, histopathologic study of the lungs showed misalignment of pulmonary veins (MAPV), which is a rare autosomal recessive condition leading to severe PPHN and death within the neonatal period. It has occasionally been described associated with PUJO. The authors point out that: i: MAPV has to be carefully searched in case of PPHN; ii: PUJO could be an important finding associated with MAPV, and the only prenatal indication of this lethal condition.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Hydronephrosis / complications*
  • Hypertension, Pulmonary / complications*
  • Hypertension, Pulmonary / physiopathology
  • Infant
  • Infant, Newborn
  • Lung / blood supply*
  • Lung / physiopathology
  • Male
  • Pulmonary Veins / physiopathology*
  • Pulmonary Veins / ultrastructure