Cavernous transformation of the portal vein associated to multiorgan developmental abnormalities

Initial diagnosis of cavernous transformation of the portal vein (portal cavernoma) is rarely made in adults. Its main clinical manifestation is upper gastrointestinal hemorrhage due to variceal bleeding. More rarely, diagnosis is made from obstructive jaundice. In children, this condition is frequently associated to prehepatic portal hypertension and congenital anomalies, the most frequent of which are atrial septal defects or malformations of the biliary tract or of the inferior vena cava. We describe here a case of a 23-year-old female presenting with massive hematemesis due to the presence of esophageal and small intestinal varices. She had a cavernous transformation of the portal vein with prehepatic portal hypertension associated with heretofore unreported malformations such as right pulmonary hypoplasia, cardiac dextroposition, and right renal ectopia. A unifying hypothesis (e.g. an intrauterine vascular insult) to explain the pathogenesis of these defects seems unlikely. Appropriate tests failed to identify specific functional abnormalities in these organs. Although she bled more than once, the combination of sclerotherapy and beta-blockers has been, thus far, able to control the major clinical consequences of this disease.