Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: a new family with misalignment of pulmonary vessels
Manouvrier-Hanu, S.; Devisme, L.; Farre, I.; Hue, V.; Storme, L.; Kacet, N.; Boute-Benejean, O.; Farriaux, J.P.
Genetic Counseling 7(4): 249-255
1996
ISSN/ISBN: 1015-8146 PMID: 8985728 Document Number: 455676
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.