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Congenital Vascular Malformations of the Liver: An Association With Trisomy 21
Oliver C Burdall1, Tassos Grammatikopoulos, Maria Sellars
1*Department of Paediatric Surgery †Department of Paediatric Hepatology ‡Department of Radiology, Kings College Hospital, London, UK.
Insights
Children with trisomy 21 have a higher incidence of congenital vascular malformations (CVMs) in the liver, often associated with cardiac defects. This study highlights the importance of investigating these vascular anomalies in pediatric patients with Down syndrome.
Area of Science:
- Pediatric Hepatology
- Cardiology
- Genetics
Background:
- Congenital vascular malformations (CVMs) of the liver are rare.
- A potential link between CVMs and trisomy 21 (Down syndrome) has been proposed.
- Early diagnosis and management are crucial for affected infants.
Purpose of the Study:
- To investigate the association between congenital vascular malformations of the liver and trisomy 21.
- To characterize the types of CVMs found in children with trisomy 21.
- To determine the prevalence of CVMs in this population.
Main Methods:
- Retrospective review of pediatric patients with trisomy 21.
- Inclusion criteria: referral to a specialist pediatric hepatobiliary unit between 1985 and 2015.
- Classification of CVMs based on vascular involvement.
Main Results:
- Forty-five children with trisomy 21 were identified.
- Seven children (15.6%) were diagnosed with CVMs.
- All affected infants had associated cardiac defects. CVMs included venovenous anomalies (e.g., portocaval shunt) and complex shunts involving all three major vascular systems, leading to arterioportal hypertension and cardiorespiratory failure.
Conclusions:
- There is a significant association between congenital vascular malformations of the liver and trisomy 21.
- Cardiac anomalies are frequently present in children with trisomy 21 and co-existing CVMs.
- Further research is warranted to understand the underlying mechanisms and optimize clinical management.
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.
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