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Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis
E M Sokal1, F Van Hoof, D Alberti
1Department of Paediatrics, Université Catholique de Louvain, Hôpital St. Luc, Brussels, Belgium.
Insights
Orthotopic liver transplantation (OLT) may not halt glycogenosis type IV progression. This case study shows cardiac amylopectinosis worsening after OLT, leading to fatal cardiac failure.
Area of Science:
- Hepatology
- Cardiology
- Genetics
Background:
- Type IV glycogenosis (GSD IV) causes progressive cirrhosis, often necessitating orthotopic liver transplantation (OLT).
- Previous reports suggested OLT could halt or reverse extrahepatic manifestations of GSD IV, including cardiac amylopectin infiltration.
Observation:
- A 15-month-old child with GSD IV underwent OLT without pre-existing extrahepatic disease.
- Nine months post-transplant, the patient exhibited progressive cardiac insufficiency.
Findings:
- The patient died from cardiac failure attributed to massive amylopectin deposits and myofibril damage in the heart.
- This outcome suggests cardiac amylopectinosis can progress even after successful OLT.
Implications:
- This case challenges the assumption that OLT prevents cardiac complications in GSD IV.
- Further research is needed to understand the long-term effects of OLT on cardiac involvement in GSD IV.
- Consideration of cardiac status post-OLT is crucial for managing patients with GSD IV.
Abstract:
Orthotopic liver transplantation (OLT) has been proposed to treat patients with type IV glycogenosis because of early progressive cirrhosis. Reports have shown absence of disease progression in other organs after OLT and even regression of cardiac amylopectin infiltration in one case. We describe a 15-month-old child in whom a liver transplant was performed for type IV glycogenosis. There were no clinical signs of extrahepatic disease before OLT. Nine months later, the patient developed progressive cardiac insufficiency and died from cardiac failure. Because of massive amylopectin deposits, decreased myofibrils in cardiac cells, and exclusion of other causes of cardiac failure, death was attributed to amylopectionosis. Our observation contrasts with the Pittsburgh experience and suggests that cardiac amylopectionosis may progress after OLT.