Absent ductus venosus (ADV) is a rare vascular anomaly. We describe a fetus/neonate with ADV with a partial liver defect. A 41-year-old woman was referred to our institute because of fetal cardiomegaly detected by routine prenatal ultrasound, which revealed absence of ductus venosus with an umbilical vein directly draining into the right atrium, consistent with extrahepatic drainage type of ADV. She vaginally gave birth to a 3,096-gram male infant at 38 weeks of gestation. Detailed ultrasound examination revealed a defect of the hepatic rectangular leaf at half a month postnatally. He showed normal development at 1.5 years of age with the liver abnormality and a Morgagni hernia. Liver morphological abnormality should also be considered as a complication of ADV.
Absent ductus venous (ADV) occurs in 1/2,500 singleton pregnancies at a median gestation of 12+5 (range 11+0 to 13+6) weeks [
Here, we describe a fetus/neonate prenatally diagnosed with the extrahepatic drainage type of ADV with a partial liver defect. This is, to our knowledge, the first report on ADV with this congenital abnormality.
At the 30th gestational week, a 41-year-old (gravida 2, para 1 [normal vaginal delivery]) woman with no remarkable medical/family histories was referred to us because of fetal cardiomegaly detected on routine prenatal ultrasound. Fetal ultrasound revealed the absence of ductus venosus (DV) with the UV directly draining into the right atrium (Figure
Prenatal ultrasound findings of a patient with absent ductus venosus. (a) The umbilical vein (arrow) directly flows into the right atrium (arrowhead). (b) The cardiothoracic area ratio was 36.5%.
At 38+3 weeks, she showed the spontaneous onset of labor and vaginally gave birth to a 3,096-gram male infant (Apgar score 7/8 [1/5 min]). Neonatal cardiac ultrasound revealed mild aortic valve regurgitation and a slightly decreased ejection fraction, which were transient and disappeared on day 7. Detailed ultrasound examination revealed a defect of the hepatic rectangular leaf (S4: one of the largest liver leaves) at half a month postnatally. No findings indicative of liver dysfunction were observed throughout his course. Computed tomography at 1 year of age revealed atypical liver rotation with a Morgagni hernia in the liver (Figure
Abdominal computed tomography at 1 year of age. A Morgagni hernia (black star) can be seen, and the right atrium (asterisk) and inferior vena cava (arrowhead) are displaced on the ventral side.
This is, to our knowledge, the first report of a patient with ADV accompanied by a partial liver defect. Detailed imaging analyses revealed this rare liver abnormality.
ADV is often complicated by various congenital abnormalities, associated or unassociated with chromosomal abnormalities. Congenital cardiac abnormalities are the most common, including ventricular septal defect, valve abnormalities, double outlet right ventricle, or coarctation of the aorta [
We believe that the partial liver defect is not a mere coincidence in the presence of ADV. This is because the liver and DV development are closely related. In the early developmental stage, there were two UVs, the right and left UVs, which run on the right and left sides of the liver (Figure
Proposed model of development in a patient with absent ductus venosus. (a) Normal fetal abdominal development at 5 weeks of gestation. Situs (arrowhead), hepatoblast (double arrows), liver sinusoid (arrow), left umbilical vein (black star), and right umbilical vein (asterisk) were indicated. (b) Normal development at 8 weeks of gestation. The right umbilical vein had regressed. Ductus venosus (DV) (white star) formed following development of the left umbilical vein (black star). (c) Abdominal development in a patient with extrahepatic absent ductus venosus at 8 weeks of gestation. The right umbilical vein (asterisk) persists and, thus, the flow of the left umbilical vein has decreased. Consequently, DV has not formed.
Persistent right UV and possibly its associated ADV with the partial liver defect may well explain the present patient’s pathophysiology/etiology. However, patients with the persistence of right UV frequently have normal DV and some researchers considered this as statuses of normal anatomical variants [
Putting aside this discussion, previous reports emphasized cardiac anomaly and little attention may have been paid to liver anomaly, there may have been some liver defects associated with ADV, but these remained unrecognized and unreported [
Concerning its drainage route, ADV is divided into 2 types: intra- and extrahepatic drainage types, with the latter being in the present case. In the former intrahepatic type, the UV flow enters the liver, whereas in the latter extrahepatic type, it bypasses the liver and directly enters the inferior vena cava or right atrium. Extrahepatic ADV was correlated with a significantly poorer prognosis than intrahepatic ADV [
We report a patient with the extrahepatic drainage type of ADV with a partial liver defect. Although it remains unclear whether this liver abnormality will affect this patient in later life, physicians should perform periodic ultrasound examination of patients with ADV. Liver morphological abnormality should also be considered as a complication of ADV, although whether its prenatal/postnatal diagnosis may affect the treatment strategy is unclear. Data accumulation is needed to determine the clinical significance of this liver abnormality associated with ADV.
Informed consent was obtained.
The authors declare no conflicts of interest.
Kenji Horie and Hironori Takahashi are equally contributed.