title: Abnormalities of the umbilico-portal venous system in Down syndrome: a report of two new patients.
abstract: 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.
authors.affiliation: Division of Cardiology and Prenatal Heart Diagnosis Program, Casa del Sole Hospital, Palermo, Italy. spipiton@neomedia.it
authors.forename: Salvatore
authors.initials: S
authors.lastname: Pipitone
authors.forename: Caterina
authors.initials: C
authors.lastname: Garofalo
authors.forename: Giovanni
authors.initials: G
authors.lastname: Corsello
authors.forename: Maurizio
authors.initials: M
authors.lastname: Mongiovì
authors.forename: Maria
authors.initials: M
authors.lastname: Piccione
authors.forename: Emiliano
authors.initials: E
authors.lastname: Maresi
authors.forename: Velio
authors.initials: V
authors.lastname: Sperandeo
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D002648:Child; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011168:Portal System / Q000002:abnormalities / Q000000981:diagnostic imaging; D011169:Portal Vein / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011247:Pregnancy; D016216:Ultrasonography, Prenatal; D014471:Umbilical Veins / Q000002:abnormalities* / Q000000981:diagnostic imaging; D014682:Vena Cava, Inferior / Q000002:abnormalities / Q000000981:diagnostic imaging