ABSTRACT
Cardiomyopathies are disorders of the myocardium that arise from a variety of etiologies
and culminate in hypertrophic or dilated remodeling of the heart. Over the past two
decades, there have been significant scientific advances in the study of primary
cardiomyopathies-disorders of cardiac myocytes that remodel the myocardium in the
absence of other underlying or contributing disease process. Inherited gene defects are
increasingly recognized as the most common cause of hypertrophic cardiomyopathy
(HCM) and a frequent cause of dilated cardiomyopathy. Elucidation of the molecular
pathways that lead from gene mutation to clinical phenotype will have profound effects
not only on our fundamental understanding of broader issues of basic myocyte structure
and function, but will also importantly influence our practical approach to the management
of disease.
