CARDIOMYOPATHY IN PROPIONIC ACIDEMIA

Following the death of a patient with propionic acidaemia with a cardi omyopathy we reviewed 19 patients with the same disorder for evidence of cardiomyopathy. Six patients were found to meet the diagnostic crit eria. Three patients died and in the other three the cardiac disease r esolved completely. All patients were treated with standard therapy an d some received L-carnitine but this did not seem to influence the eve ntual outcome. Cardiomyopathy is an important complication of propioni c acidaemia and may be rapidly fatal.