Idiopathic cardiomyopathy (ICM) is by definition of unknown etiology. There are two major clinical formes of ICM; one is hypertrophic cardiomyopathy (HCM) and the other is dilated cardiomyopathy (DCM). The cause of ICM had not been elucidated for a long time, but recent research of molecular genetics has now revealed that a part of familial ICM is caused by a mutation in the human genome. It is now accepted that the abnormality in the regulation of muscle contraction cause HCM, whereas that in the cytoarchitecture or loss of cardiomyocytes may lead to DCM. In our Department, mutations in the HCM genes were identified in about half of patients with familial HCM, and those in the DCM genes were found in about 5-10% of patients with familial DCM. However, there are many patients in whom no mutation in the disease genes could be found, suggesting the presence of yet unidentified responsible disease-causing genes.

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