Hepatic manifestations of familial patent ductus venosus in adults

Background-The ductus venosus connects the umbilical vein to the inferior v ena cava during fetal life and subsequently closes rapidly after birth. It is known as patent ductus venosus when it remains patent in adulthood. Patients-A 43 year old man with a history of panhypopituitarism presented w ith recurrent bouts of pedal oedema associated with fatigue, hypoalbuminaem ia, and elevated prothrombin time. An ultrasound examination of his abdomen with Doppler revealed notable attenuation of the main portal vein with dim inished intrahepatic branches; a computed tomography scan with angiography revealed a large collateral vein within the liver consistent with a patent ductus venosus. Sequential liver biopsies showed a considerable reduction i n the calibre and number of the portal veins. His younger brother, who was diagnosed with alcohol related cirrhosis, suffered from intermittent bouts of encephalopathy and was found to have the same vascular lesion. A third b rother was found to have a patent ductus venosus as well as two large hepat ic masses consistent with focal nodular hyperplasia. Conclusion-The syndrome of familial patent ductus venosus has only previous ly been described in three infant brothers who presented with hepatic encep halopathy and fatty degeneration of the liver. This report documents three brothers with a patent ductus venosus presenting in adulthood with differen t manifestations of liver disease. The presence of the same vascular anomal y in three brothers is highly suggestive of a recessive genetic trait with an anatomical manifestation of patent ductus venosus.