Progressive cardiac failure following orthotopic liver transplantation for type IV glycogenosis

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.

Polyglucosan storage myopathies

“…Since many patients will also develop extra-hepatic manifestations such as myopathy, the outcome after liver transplantation is not always favorable (Sokal et al, 1992).…”

Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation

“…14 Extrahepatic deposits of polyglucosan have been reported to be resorbed through the migration of donor cells (forming a microchimerism) from the liver allograft, 15 although one patient died from cardiopathy after liver transplantation. 16 Therefore, although liver transplantation was successful in our patient, long-term follow-up is necessary to guard against neuromuscular complications. Identification of the specific GBE1 mutations will facilitate genetic diagnosis of GSD-IV, and genetic counseling for this family, should there be future pregnancies.…”

Liver Transplantation in Children With Glycogen Storage Diseases: Risk Assessment and Necessity of This Procedure

“…С тех пор еще 17 детям (16 мальчикам и одной девочке) была проведена трансплантация печени ввиду развития цирроза и печеночной недостаточ-ности в исходе болезни Андерсена [2,7,14,35,36,48]. Двум пациентам потребовалась ретранс-плантация печени: в одном случае из-за дисфунк-ции трансплантата, во втором случае вследствие развития отторжения трансплантата после АВО-несовместимой родственной трансплантации.…”