Polymalformative syndrome characterized by hypoplastic
pulmonary arteries and aorta and urinary tract malformations.
Hypoplastic Pulmonary Arteries and Aorta with Obstructive
Uropathy; Pulmonary and Aortic Stenosis with Obstructive Uropathy.
Two cases in siblings have been described.
Autosomal recessive inheritance.
Diffuse hypoplasia of the pulmonary arteries and the ascending aorta resulted
in progressive right heart failure, systemic hypertension, chronic malabsorption,
and failure to thrive.
Urinary tract abnormalities included
obstructive uropathy with reflux and hydronephrosis.
The authors characterized the
disease as possibly representing hypoplasia of the arterial vascular system.
Evaluate current cardiac status by
history, physical examination, and investigations (electrocardiogram,
echocardiogram). Consultation with cardiologist to evaluate and optimize
management, especially if cor pulmonale is present. Endocarditis prophylaxis
may be required. Evaluate renal function (creatinine, blood urea nitrogen
levels). Anesthetic techniques that minimize myocardial depression and
pulmonary vascular resistance may be tolerated best. Inotropic support may
be required if cor pulmonale is present.
Avoid drugs with predominantly
renal elimination in the presence of renal insufficiency.
Kashani IA, Strom CM, Utley JE, et al: Hypoplastic pulmonary arteries and
aorta with obstructive uropathy in 2 siblings. Angiology