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SNOMEDCT: 253330006;
The ductus venosus is a bypass between the umbilical vein and the inferior vena cava in the fetal circulation. Uchino et al. (1996) noted that functional closure of the ductus venosus starts immediately after birth when the blood pressure in the umbilical vein decreases. Complete functional closure of the ductus venosus occurs in 93% of infants at 2 weeks of age, and this is followed by anatomic closure. Congenital portosystemic venous shunt (PSVS) can result from patent ductus venosus (PDV).
Uchino et al. (1996) described 3 Japanese brothers with progressive deterioration of hepatic function and fatty degeneration of the liver eventually leading to hepatic encephalopathy. Each of them had a congenital intrahepatic portosystemic venous shunt due to a patent ductus venosus. Liver dysfunction and hepatic steatosis reverted to normal with surgical correction of the ductus venosus. These observations suggested that impairment of liver function occurs first in the presence of malnutrition related to a reduction of blood in the portal vein. Hepatic steatosis is a consequence of depleted metabolism of hepatocytes. Congenital portosystemic venous shunt due to a patent ductus venosus appeared to have a genetic background in this family. The parents were nonconsanguineous. Of the 3 brothers, the middle-aged one was first diagnosed. He was well until age 3 years, when his appetite decreased. At the age of 3 years he showed unconsciousness after a febrile episode. Hyperammonemia without hepatosplenomegaly was discovered. Surgical closure of the ductus venosus was performed at age 3 years. At the age of 5 years, the oldest of the 3 brothers had been noted to have transient stupor and nausea after eating meat. Surgical correction of the ductus venosus was performed at age 5.5 years. The youngest of the 3 brothers was found to have elevated serum acid levels at age 5 months. Ultrasonography detected a PDV anatomically similar to that of the 2 older brothers. The shunt ratio was estimated to be 77% by per-rectal portal scintigraphy. Microscopically the liver showed mild fatty degeneration. Uchino et al. (1996) reported that the youngest of the 3 sibs had a high level of blood galactose without enzyme deficiency. This was found on neonatal screening and was an important clue for the diagnosis of PSVS.
Gitzelmann et al. (1992) described hypergalactosemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii.
Jacob et al. (1999) reported 3 adult brothers with patent ductus venosus. The proband was a 43-year-old man with a history of panhypopituitarism who presented with recurrent bouts of pedal edema associated with fatigue, hypoalbuminemia, and elevated prothrombin time. Ultrasound demonstrated attenuation of the main portal vein with diminished intrahepatic branches; CT scan with angiography showed a large collateral vein within the liver consistent with patent ductus venosus. His younger brother, who had been 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 patent ductus venosus as well as 2 large hepatic masses consistent with focal nodular hyperplasia. Autosomal recessive or X-linked recessive inheritance was postulated.
PSVS is common in dogs where the clinical picture is similar to that in the sibs described by Uchino et al. (1996); the dogs develop encephalopathy at a young age and the liver is small with fatty infiltration. Once the shunt vessel is ligated, biochemical findings and fatty liver improve immediately and the liver grows to normal size (Whiting and Peterson, 1993). PSVS in dogs is known to be autosomal without sex predilection (Meyer and Rothuizen, 1991).
Gitzelmann, R., Arbenz, U. V., Willi, U. V. Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii. Europ. J. Pediat. 151: 564-568, 1992. [PubMed: 1505572] [Full Text: https://doi.org/10.1007/BF01957721]
Jacob, S., Farr, G., De Vun, D., Takiff, H., Mason, A. Hepatic manifestations of familial patent ductus venosus in adults. Gut 45: 442-445, 1999. [PubMed: 10446116] [Full Text: https://doi.org/10.1136/gut.45.3.442]
Meyer, H. P., Rothuizen, J. Congenital portosystemic shunts (PSS) in dogs are a genetic disorder. Tijdschr. Diergeneeskd. 116: 80S-81S, 1991. [PubMed: 2048089]
Uchino, T., Endo, F., Ikeda, S., Shiraki, K., Sera, Y., Matsuda, I. Three brothers with progressive hepatic dysfunction and severe hepatic steatosis due to a patent ductus venosus. Gastroenterology 110: 1964-1968, 1996. [PubMed: 8964424] [Full Text: https://doi.org/10.1053/gast.1996.v110.pm8964424]
Whiting, P. G., Peterson, S. L. Portosystemic shunt.:In: Slatter, D. (eds.) : Textbook of Small Animal Surgery. Philadelphia, Pa.: Saunders 1993. Pp. 660-667.