Abstract
Metabolic cardiomyopathies represent a large heterogeneous group of diseases caused by inborn errors of metabolism (IEM). So far, more than 1000 distinct disorders of metabolism have been described.
Cardiac involvement is present in about 5% of these metabolic defects. While in some diseases, the cardiac involvement is representing the dominant and potentially fatal condition, in the others it may be only part of a complex multisystemic disease manifestation.