Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations

Peripheral pulmonary stenosis with or without intracardiac disease is described in 14 patients with intrahepatic biliary dysgenesis. Cardiovascular malformations were not present among a large group of patients with extrahepatic biliary dysgenesis. This association of intrahepatic biliary dysgenesis and vascular malformations is postulated to be a specific malformation syndrome resulting most probably from intrauterine infection. The cardiovascular disease is usually mild. The liver dysfunction varies in severity, and is accompanied by a notable hyperlipoproteinemia with secondary xanthomata which can be ameliorated by long-term treatment with cholestyramine resin and/or vegetable oil supplements.