Abnormalities of the umbilico‐portal venous system in Down syndrome: A report of two new patients

Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and c...

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Bibliographic Details
Published in:American journal of medical genetics 2003-08, Vol.120A (4), p.528-532
Main Authors: Pipitone, Salvatore, Garofalo, Caterina, Corsello, Giovanni, Mongiovì, Maurizio, Piccione, Maria, Maresi, Emiliano, Sperandeo, Velio
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnostic imaging
Abnormalities, Multiple - genetics
Adult
Biological and medical sciences
Child
Chromosome aberrations
Down syndrome
Down Syndrome - complications
Down Syndrome - genetics
Female
Humans
Infant
Male
Medical genetics
Medical sciences
Portal System - abnormalities
Portal System - diagnostic imaging
Portal Vein - abnormalities
Portal Vein - diagnostic imaging
portosystemic shunt
Pregnancy
trisomy 21
Ultrasonography, Prenatal
Umbilical Veins - abnormalities
Umbilical Veins - diagnostic imaging
vascular malformations
Vena Cava, Inferior - abnormalities
Vena Cava, Inferior - diagnostic imaging
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Summary:Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which are often associated with anomalies of the heart and gastrointestinal tract. Association with chromosomal disorders has been sporadically reported. We now report on two patients with trisomy 21 and congenital anomalies of the umbilico‐portal system. A male fetus showed absence of the intrahepatic portal vein (PV) and ductus venosus with a direct communication between portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth. A female infant showed absence of the intrahepatic PV and a total portocaval shunt. Both patients also had heart defects. As previously documented in other reports, our cases demonstrated that this association may be causally‐related to the chromosomal aberration. In addition, the umbilico‐portal venous system abnormalities seems to be the most frequent congenital vascular malformation in Down syndrome. A presumptive pathogenetic mechanism could be a trisomy 21‐related altered angiogenesis of the vitelloumbilical plexus. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4825
0148-7299
1552-4833
1096-8628
DOI:10.1002/ajmg.a.20081