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Physiological Reviews, Vol. 82, No. 4, October 2002, pp. 945-980; 10.1152/physrev.00012.2002.
Copyright ©2002 by the American Physiological Society
Molecular Cardiology Unit, Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia
Fatkin, Diane and
Robert M. Graham.
Molecular Mechanisms of Inherited Cardiomyopathies. Physiol. Rev. 82: 945-980, 2002.
Cardiomyopathies are diseases of heart
muscle that may result from a diverse array of conditions that damage
the heart and other organs and impair myocardial function, including
infection, ischemia, and toxins. However, they may also occur as
primary diseases restricted to striated muscle. Over the past decade, the importance of inherited gene defects in the pathogenesis of primary
cardiomyopathies has been recognized, with mutations in some 18 genes
having been identified as causing hypertrophic cardiomyopathy (HCM)
and/or dilated cardiomyopathy (DCM). Defining the role of these genes
in cardiac function and the mechanisms by which mutations in these
genes lead to hypertrophy, dilation, and contractile failure are major
goals of ongoing research. Pathophysiological mechanisms that have been
implicated in HCM and DCM include the following: defective force
generation, due to mutations in sarcomeric protein genes; defective
force transmission, due to mutations in cytoskeletal protein genes;
myocardial energy deficits, due to mutations in ATP regulatory protein
genes; and abnormal Ca2+ homeostasis, due to altered
availability of Ca2+ and altered myofibrillar
Ca2+ sensitivity. Improved understanding that will result
from these studies should ultimately lead to new approaches for the
diagnosis, prognostic stratification, and treatment of patients with
heart failure.
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