Hepatic manifestations of familial patent ductus venosus in adults

Jacob, S., Farr, G., De Vun, D., Takiff, H. and Mason, A. (1999) Hepatic manifestations of familial patent ductus venosus in adults. Gut, 45 3: 442-445. doi:10.1136/gut.45.3.442


Author Jacob, S.
Farr, G.
De Vun, D.
Takiff, H.
Mason, A.
Title Hepatic manifestations of familial patent ductus venosus in adults
Journal name Gut   Check publisher's open access policy
ISSN 0017-5749
1468-3288
Publication date 1999-09
Sub-type Article (original research)
DOI 10.1136/gut.45.3.442
Volume 45
Issue 3
Start page 442
End page 445
Total pages 4
Place of publication London, United Kingdom
Publisher B M J Group
Language eng
Formatted 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 fatigues 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.
Keyword Patent ductus venosus
Portal vein sclerosis
Familial
Hepatic synthetic dysfunction
Hepatic encephalopathy
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: School of Medicine Publications
 
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