Approach to the Patient with Cardiovascular Disease

Key Facts

• Metabolic disorders are associated with a wide variety of cardiovascular manifestations, including cardiomyopathy, dysrhythmias and conduction disturbances, valvular heart disease, vascular disorders, and pulmonary hypertension.

• Most metabolic cardiomyopathies result from disorders of energy production, mostly involving other organs, particularly skeletal muscle and liver.

• Taken as a group, the disorders of fatty acid oxidation and of oxidative phosphorylation are the most common causes of metabolic cardiomyopathies; another important group is disorders of glycogen metabolism, especially Pompe disease.

• In some metabolic disorders, the cardiac manifestations may be late, subtle, or secondary to metabolic derangements in other organs.

• Valvular dysfunction and infiltrative cardio-myopathy occur as a late complication in many lysosomal storage disorders.

• Myocardial dysfunction is common in hemo-chromatosis, a metabolic cardiomyopathy most easily prevented.

• Symptomatic coronary heart and cerebrovas-cular disease during childhood is restricted to severe defects of low-density lipoprotein metabolism.

• Peripheral vascular disease is prominent in homocystinuria. Disorders of lipoproteins metabolism possess a significant long-term, but modifiable burden of premature atherosclerosis to a large number of children.

• Pulmonary arterial hypertension may be a quite rare complication in a few metabolic diseases, especially glycogen storage disease I.