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.

Postprandial Hyperinsulinaemic Hypoglycaemia Secondary to a Congenital Portosystemic Shunt

“…Congenital anomalies of the umbilical and portal venous system are rare vascular malformations which could be associated with anomalies of the heart and gastrointestinal tract [13]. It has been described in patients with Turner's syndrome, Noonan syndrome, trisomy 18, Goldenhar syndrome, Ellis Van Crevald syndrome, velocardiofacial syndrome and Down's syndrome [13,14].…”

“…It has been described in patients with Turner's syndrome, Noonan syndrome, trisomy 18, Goldenhar syndrome, Ellis Van Crevald syndrome, velocardiofacial syndrome and Down's syndrome [13,14]. Two patients with trisomy 21 have been reported with PSS possibly due to altered angiogenesis of the vitello-umbilical plexus [13].…”

“…It has been described in patients with Turner's syndrome, Noonan syndrome, trisomy 18, Goldenhar syndrome, Ellis Van Crevald syndrome, velocardiofacial syndrome and Down's syndrome [13,14]. Two patients with trisomy 21 have been reported with PSS possibly due to altered angiogenesis of the vitello-umbilical plexus [13]. A male fetus was noted with absence of the intrahepatic portal vein and ductus venosus with a direct communication between the portal sinus and inferior vena cava exhibiting an umbilicosystemic total shunt during the fetal life and a portosystemic total shunt after birth [13].…”

Adenosine Receptors in Health and Disease

“…A 2B AR is also involved in chorionic vasoconstriction,with pathophysiological implications for PE and vascular diseases (Donoso et al, 2005). Since TR21 placentae are known to feature trophoblastic hypoplasia and hypovascularity, we investigated the potential role played by ARs in NO and VEGF regulation in both TR21 and normal pregnancies (Pipitone et al, 2003); previously, the four ARs had been linked to the angiogenic actions of Ado in endothelial cells, smooth muscle, fibroblasts, monocytes, macrophages, mast and foam cells, all of which are recognized as important sources of proangiogenic factors (George et al, 2010;Wendler et al, 2007;Clark et al, 2007). We found slightly higher NO content in MCs from TR21 pregnancies than in E cells; A 1 followed by A 2A ARs were shown to increase NO production in an HIF-1-dependent fashion,with A 2B AR only playing a minor role, confirming previous reports (Lima et al, 2010;Vàsquez et al, 2004).…”

Insight into congenital absence of the portal vein: Is it rare?

“…The pathogenesis of CAPV may be attributed to excessive involution of the peri-intestinal vitelline venous loop [10,13,22,69] , or to total failure of the vitelline veins to establish the critical anastomosis with hepatic sinusoids [4] . Behind the abnormalities, the initiative event may be referred to genetic mutation or chromatosome variation as CAPV has been sometimes reported in conjunction with chromosomal disorders [70] , such as translocation (2,10) [21] and turner syndrome (45, XO) [6,71] . The associated extrahepatic portosystemic shunts may occur due to the persistent subcardinohepatic anastomosis with the vitelline veins.…”