Cardiomyopathies in Propionic Aciduria are Reversible After Liver Transplantation

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. (J Pediatr 2010; 156: 128-34).