@article {Jacob442, author = {S Jacob and G Farr and D De Vun and H Takiff and A Mason}, title = {Hepatic manifestations of familial patent ductus venosus in adults}, volume = {45}, number = {3}, pages = {442--445}, year = {1999}, doi = {10.1136/gut.45.3.442}, publisher = {BMJ Publishing Group}, abstract = {BACKGROUND The ductus venosus connects the umbilical vein to the inferior vena 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 with recurrent bouts of pedal oedema associated with fatigue, hypoalbuminaemia, and elevated prothrombin time. An ultrasound examination of his abdomen with Doppler revealed notable attenuation of the main portal vein with diminished 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 in 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 brother was found to have a patent ductus venosus as well as two large hepatic masses consistent with focal nodular hyperplasia.CONCLUSION The syndrome of familial patent ductus venosus has only previously been described in three infant brothers who presented with hepatic encephalopathy and fatty degeneration of the liver. This report documents three brothers with a patent ductus venosus presenting in adulthood with different manifestations of liver disease. The presence of the same vascular anomaly in three brothers is highly suggestive of a recessive genetic trait with an anatomical manifestation of patent ductus venosus.CTcomputed tomographyHFEhaemochromatosis geneMRImagnetic resonance imaging}, issn = {0017-5749}, URL = {https://gut.bmj.com/content/45/3/442}, eprint = {https://gut.bmj.com/content/45/3/442.full.pdf}, journal = {Gut} }