title: Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.
abstract: Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention. Here, we present the reversal of a severe cardiomyopathy after liver transplantation in a patient with propionic acidemia and the long-term stability after ten years. Liver transplantation in patients with propionic acidemia may be considered a valid and long-lasting treatment when cardiomyopathy is progressive and unresponsive to medical therapy.
authors.affiliation: Department of Paediatrics, Inselspital, University Hospital Bern, Bern, Switzerland.|Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.
authors.forename: Chiara
authors.initials: C
authors.lastname: Arrizza
authors.affiliation: Clinic of Visceral Surgery and Medicine, Hepatology, Inselspital, University Hospital Bern, Bern, Switzerland.
authors.forename: Andrea
authors.identifier: http://orcid.org/0000-0002-4401-2340
authors.initials: A
authors.lastname: De Gottardi
authors.affiliation: MD Internal Medicine and Cardiology, Massagno, Switzerland.
authors.forename: Ezio
authors.initials: E
authors.lastname: Foglia
authors.affiliation: Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.|radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.
authors.forename: Matthias
authors.initials: M
authors.lastname: Baumgartner
authors.affiliation: Department of Paediatrics, Inselspital, University Hospital Bern, Bern, Switzerland.|Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.
authors.forename: Matthias
authors.initials: M
authors.lastname: Gautschi
authors.affiliation: Department of Paediatrics, Inselspital, University Hospital Bern, Bern, Switzerland.|Institute of Clinical Chemistry, Inselspital, University Hospital Bern, Bern, Switzerland.
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Nuoffer
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000209:etiology* / Q000503:physiopathology / Q000601:surgery*; D005500:Follow-Up Studies; D006801:Humans; D016031:Liver Transplantation; D008297:Male; D056693:Propionic Acidemia / Q000150:complications* / Q000601:surgery*; D016896:Treatment Outcome; D016277:Ventricular Function, Left
keywords: cardiomyopathy; metabolic decompensation; orthotopic liver transplantation; propionic acidemia