ABSTRACT
The heart requires large amounts of energy to maintain its normal function while in the resting or working states, as well as during the fed and fasted states. A small proportion of this energy is derived from anaerobic metabolism, but the myocardium depends primarily on aerobic metabolism within the mitochondria for the majority of its energy production, especially during periods requiring increased cardiac output. Fatty acids are the major fuel source for the myocardium, although it also utilizes glucose (or glycogen) and several amino acids. Hence, genetic and acquired defects that affect aerobic mitochondrial metabolism can be associated with clinically significant myocardial dysfunction. This chapter deals exclusively with genetic disorders, as opposed to acquired disorders, of mitochondrial function that produce cardiomyopathy and/or other forms of cardiac dysfunction.
