OBJECTIVE: To evauluate the relationship between propionic acidemia (PA) and cardiomyopathy. STUDY DESIGN: We retrospectively compared clinical and metabolic results of patients with PA with and without cardiomyopathy. RESULTS: Of 26 patients with PA who survived the first year of age, a dilated cardiomyopathy developed in 6 (group 1) at a median age of 7 years (range, 5-11 years). They were compared with 14 patients without cardiomyopathy for whom data were available (group 2). Their median age at the time of the study was 11 years (range, 3-21 years). PA was diagnosed in the neonatal period in 5 of 6 patients in group 1 and 11 of 14 patients in group 2. All patients received similar medical treatment. Two patients in group 1 died of cardiac arrest. In 2 patients, the cardiomyopathy was reversed during the year after orthotopic liver transplantation (OLT). In 2 other patients, OLT was contraindicated because of severe heart disease. The number of metabolic distress episodes was similar in both groups. Excretion of propionate metabolites in urine did not correlate with the occurrence of cardiomyopathy. CONCLUSION: Dilated cardiomyopathy, a frequent complication of PA, develops independent of any specific metabolic profile and is reversible after OLT.
OBJECTIVE: To evauluate the relationship between propionic acidemia (PA) and cardiomyopathy. STUDY DESIGN: We retrospectively compared clinical and metabolic results of patients with PA with and without cardiomyopathy. RESULTS: Of 26 patients with PA who survived the first year of age, a dilated cardiomyopathy developed in 6 (group 1) at a median age of 7 years (range, 5-11 years). They were compared with 14 patients without cardiomyopathy for whom data were available (group 2). Their median age at the time of the study was 11 years (range, 3-21 years). PA was diagnosed in the neonatal period in 5 of 6 patients in group 1 and 11 of 14 patients in group 2. All patients received similar medical treatment. Two patients in group 1 died of cardiac arrest. In 2 patients, the cardiomyopathy was reversed during the year after orthotopic liver transplantation (OLT). In 2 other patients, OLT was contraindicated because of severe heart disease. The number of metabolic distress episodes was similar in both groups. Excretion of propionate metabolites in urine did not correlate with the occurrence of cardiomyopathy. CONCLUSION:Dilated cardiomyopathy, a frequent complication of PA, develops independent of any specific metabolic profile and is reversible after OLT.
Authors: Stefan Kölker; Vassili Valayannopoulos; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; S P Nikolas Boy; Marlene Bøgehus Rasmussen; Peter Burgard; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Francesca Furlan; Florian Gleich; Maria Julieta González; Wanda Gradowska; Stephanie Grünewald; Tomas Honzik; Friederike Hörster; Hariklea Ioannou; Anil Jalan; Johannes Häberle; Gisela Haege; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Elaine Murphy; Hélène Ogier de Baulny; Carlos Ortez; Consuelo C Pedrón; Guillem Pintos-Morell; Luis Pena-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Allan M Lund; Angeles Garcia-Cazorla; Angeles Garcia Cazorla Journal: J Inherit Metab Dis Date: 2015-04-15 Impact factor: 4.982
Authors: Jana Heringer; Vassili Valayannopoulos; Allan M Lund; Frits A Wijburg; Peter Freisinger; Ivo Barić; Matthias R Baumgartner; Peter Burgard; Alberto B Burlina; Kimberly A Chapman; Elisenda Cortès I Saladelafont; Daniela Karall; Chris Mühlhausen; Victoria Riches; Manuel Schiff; Jolanta Sykut-Cegielska; John H Walter; Jiri Zeman; Brigitte Chabrol; Stefan Kölker Journal: J Inherit Metab Dis Date: 2015-12-21 Impact factor: 4.982
Authors: Kirkland A Wilson; Yong Han; Miaoqi Zhang; Jeremy P Hess; Kimberly A Chapman; Gary W Cline; Gregory P Tochtrop; Henri Brunengraber; Guo-Fang Zhang Journal: Am J Physiol Endocrinol Metab Date: 2017-06-20 Impact factor: 4.310
Authors: Moniek Riemersma; Mark R Hazebroek; Appolonia T J M Helderman-van den Enden; Gajja S Salomons; Sacha Ferdinandusse; Martijn C G J Brouwers; Liesbeth van der Ploeg; Stephane Heymans; Jan F C Glatz; Arthur van den Wijngaard; Ingrid P C Krapels; Jörgen Bierau; Han G Brunner Journal: Eur J Hum Genet Date: 2017-08-30 Impact factor: 4.246