Primary cardiomyopathy is defined as a cardiomyopathy caused by the intrinsic factor(s).
There are two major forms of primary cardiomyopathy, hypertrophic cardiomyopathy (HCM)
and dilated cardiomyopathy (DCM). Recent progress in genetic analyses during the past
three decades has revealed gene mutations are the cause of primary cardiomyopathy.
The most interesting issue is that there are many disease-associated genes for both
HCM and DCM, albeit that usually only one gene mutations could be found in a patient,
i.e. both HCM and DCM are genetically heterogeneous. In addition, the disease-associated
genes for HCM and DCM are overlapping, but functional alterations caused by the HCM-associated
mutations and DCM-associated mutations are quite different in nature. Another interesting
issue is a gender difference in phonotypes of primary cardiomyopathy, which may be
controlled in part by sex hormones. I will summarize our recent progresses in the
genetic analyses of primary cardiomyopathy and functional analyses of disease-associated
mutations to demonstrate how the pathogenesis of HCM and DCM could be explained by
the genetic causes.
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