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. 1999 Sep;45(3):442–445. doi: 10.1136/gut.45.3.442

Hepatic manifestations of familial patent ductus venosus in adults

S Jacob 1, G Farr 1, D De Vun 1, H Takiff 1, A Mason 1
PMCID: PMC1727628  PMID: 10446116

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.


Keywords: patent ductus venosus; portal vein sclerosis; familial; hepatic synthetic dysfunction; hepatic encephalopathy

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Figure 1  .

Figure 1  

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Microscopic section of the liver in patient 1, showing a sclerosed portal vein on the left of the portal triad (haematoxylin and eosin; original magnification × 100).

Figure 2  .

Figure 2  

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(A) Computed tomography of the abdomen of patient 1 during infusion of contrast into the superior mesenteric artery, showing the patent ductus venosus. The thin arrow points to the portal vein, the thick arrow to the patent ductus venosus, and the asterisk marks the inferior vena cava. (B) Selective angiogram of superior mesenteric artery of patient 1, showing the patent ductus venosus in the venous phase. The thin arrow points to the small residual right portal vein, the thick arrow to the patent ductus venosus, and the asterisk marks the right atrium.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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