Cardiovascular involvement in propionic acidemia and related mechanisms.

Propionic acidemia (PA) is an autosomal recessive disorder of organic acidemia. In addition to developmental delay and central nervous system damage, its most important mid- and long-term complications include dilated cardiomyopathy and arrhythmia (long Q-T syndrome and ventricular fibrillation, etc.), which are also major causes of mortality. The mechanisms of cardiovascular involvement include disorder of mitochondrial energy metabolism, oxidative stress and ion channel damage caused by excessive metabolites such as propionic acid. There are no recognized guidelines for the treatment of PA-related cardiomyopathy. Liver transplantation is recognized as a method to correct metabolic disorders and reverse cardiomyopathy. Antioxidants and drugs that increase myocardial energy supply are expected to become the future treatment options for PA-related cardiomyopathy. [ABSTRACT FROM AUTHOR]