Congenital Vascular Malformations of the Liver: An Association With Trisomy 21

J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):e141-e146. doi: 10.1097/MPG.0000000000001405.

Abstract

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.

MeSH terms

  • Down Syndrome / complications*
  • Female
  • Gestational Age
  • Heart Defects, Congenital / complications*
  • Hepatic Veins / abnormalities*
  • Hepatic Veins / diagnostic imaging
  • Humans
  • Infant
  • Infant, Newborn
  • Liver / blood supply*
  • Liver Diseases / complications
  • Magnetic Resonance Imaging
  • Male
  • Portal Vein / abnormalities
  • Portal Vein / diagnostic imaging
  • Retrospective Studies
  • Tomography, X-Ray Computed
  • Vascular Malformations / complications*
  • Vascular Malformations / diagnosis

Supplementary concepts

  • Patent Ductus Venosus