Congenital Vascular Malformations of the Liver: An Association With Trisomy 21.
A link between congenital vascular malformation (CVM) of the liver and trisomy 21 has been suggested. We reviewed all children with trisomy 21 referred for investigation to a specialist pediatric hepatobiliary unit (1985-2015). Forty-five children with trisomy 21 were identified; 7 (15%) had a defined CVMs (4 girls). All such infants were also diagnosed with a range of cardiac defects. CVMs were divided according to the nature of the vascular connection. Group (i) (n = 3): Abnormal venovenous anomaly. This included portocaval shunt and patent ductus venosus (n = 2). Group (ii) (n = 4): Involvement of all 3 vascular systems. Two infants had arterioportal hypertension caused by hepatic arteries feeding into a left portal vein aneurysm within the umbilical fissure. Two infants had more complex hepatic artery to hepatic vein shunts developing early cardiorespiratory failure with progressive jaundice. Our series shows a clear association between cardiac anomalies and CVM in children with trisomy 21.
*Department of Paediatric Surgery †Department of Paediatric Hepatology ‡Department of Radiology, Kings College Hospital, London, UK.
Oliver C
OC
Burdall
Tassos
T
Grammatikopoulos
Maria
M
Sellars
Nedim
N
Hadzic
Mark
M
Davenport
D004314:Down Syndrome / Q000150:complications*; D005260:Female; D005865:Gestational Age; D006330:Heart Defects, Congenital / Q000150:complications*; D006503:Hepatic Veins / Q000002:abnormalities* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000098:blood supply*; D008107:Liver Diseases / Q000150:complications; D008279:Magnetic Resonance Imaging; D008297:Male; D011169:Portal Vein / Q000002:abnormalities / Q000000981:diagnostic imaging; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D054079:Vascular Malformations / Q000150:complications* / Q000175:diagnosis