Cardiomyopathies Due to Left Ventricular Noncompaction, Mitochondrial and Storage Diseases, and Inborn Errors of Metabolism

The normal function of the human myocardium requires the proper generation and utilization of energy and relies on a series of complex metabolic processes to achieve this normal function. When metabolic processes fail to work properly or effectively, heart muscle dysfunction can occur with or without accompanying functional abnormalities of other organ systems, particularly skeletal muscle. These metabolic derangements can result in structural, functional, and infiltrative deficiencies of the heart muscle. Mitochondrial and enzyme defects predominate as disease-related etiologies. Disrupted mitochondrial function and metabolic abnormalities have a causal role as well. Treatments focus on improvement of cardiac efficiency and reduction of mechanical stress in those with systolic dysfunction in these diseases. Further, arrhythmia therapy and implantation of an automatic implantable cardioverter-defibrillator (ICD) for prevention of sudden death are mainstays of treatment when deemed necessary and appropriate. Herein, we describe the causes and treatment options for left ventricular noncompaction (LVNC) cardiomyopathy, mitochondrial, and storage forms of cardiomyopathy. Cardiomyopathy Compendium