Preferred Label : Patent ductus venosus;
Symbol : PDV;
CISMeF acronym : PDV; PSVS;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Portosystemic venous shunt, congenital; PSVS;
Description : 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.;
Inheritance : ? Autosomal recessive;
Prefixed ID : 601466;
Origin ID : 601466;
UMLS CUI : C0344688;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
