A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.
In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.
Successful combined orthotopic liver transplant and transcatheter management of atrial septal defect, patent ductus arteriosus, and peripheral pulmonic stenosis in a small infant with Alagille syndrome.
Harris M, Cao QL, Waight D, Hijazi ZM. Pediatr Cardiol. 2002;23(6):650-4.
We report on a 4-kg infant with Alagille syndrome and congenital heart disease consisting of atrial septal defect (ASD), patent ductus arteriosus (PDA), and severe peripheral pulmonic stenosis.
