Hypoplastic Pulmonary Arteries and Aorta with Obstructive Uropathy in 2 Siblings

Abstract

Two sisters who presented with diffuse hypoplasia of pulmonary arteries, relative hypoplasia of ascending aorta, obstructive uropathy, bilateral ureteral reflux, and hydronephrosis, are described. The subsequent course was characterized by progressive and gradual onset of right heart failure, failure to thrive, chronic malabsorption and systemic hypertension. The syndrome which appears to be transmitted by autosomal recessive inheritance can possibly represent a generalized hypoplasia and growth failure of a part or the entire arterial system. Peripheral pulmonary stenosis can occur as an isolated lesion or in association with other congenital cardiac anomalies, as well as in rubella syndrome and the syndrome of supravalvular aortic stenosis. This communication reports two siblings with a hitherto unreported combination of hypoplastic pulmonary arteries, and aorta with identical genito-urinary tract abnormalities.