Presentation, Management, and Outcome of Congenital Portosystemic Shunts in Children: The Boston Children's Hospital Experience

Objectives: Congenital portosystemic shunts (CPSS) are rare vascular malformations. We describe presentations, complications, associations, and outcomes of CPSS at Boston Children's Hospital (BCH). Methods: This was a retrospective review of children with CPSS at BCH from 2000 to 2020. Results: Twenty-nine patients had CPSS (17 girls): 14 extrahepatic (EH) and 15 intrahepatic (IH). At diagnosis, 15 were <= 5 days, 7 <1 year, and 7 >1 year (range 1-19). Median follow-up duration was 5.2 years (interquartile range [IQR] 1.6-10.9) in EH and 2.2 years (0.2-4.2) in IH CPSS. The most common presentation was antenatal ultrasound 13 (45%) followed by hyperammonemia 10 (34%), whereas 6 (21%) were asymptomatic. Complications were noted in 17 (12/14 EH vs 6/15 IH, P = 0.008). Associated anomalies were present in 25 (14/14 EH vs 11/15 IH, P = 0.10). Spontaneous closure was observed in 8 (28%) patients with IH CPSS, all <12 months of age. Ten patients underwent shunt closure 3 (30%) by interventional radiology (IR) and 5 (50%) by surgery, whereas 2 (20%) required both. After therapeutic closure; 8 had improvement, 1 had portal hypertension, and 1 had sepsis and thrombosis. The remaining 11 patients, 8 (42%) were followed without closure: 6 of 8 (75%) EH versus 2 of 11 (18%) IH (P = 0.02), 2 lost follow-up and 1 with complicated EH CPSS died, unsuitable for therapeutic closure. Conclusions: CPSS may be asymptomatic or present with complications. Spontaneous closure of IH shunts may occur in infancy, thus therapeutic closure may be deferred until age >= 2 years. IR and surgical closure of CPSS are associated with improvement in the majority of cases.