Cardiomyopathies (heart diseases) are the leading cause of death in the United States. Several variations of cardiomyopathy exist; many of them being hereditary. The types of cardiomyopathy that exist are known to exist are:
Familial (or inherited) hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States. Mutations in two genes, MYH7 and MYBPC3, account for ~70-80% of the cases of familial hypertrophic cardiomyopathy. Mutations in 4 other genes, TNNI3, TNNT2, TPM1, and MYL3, account for >10% of the cases of familial hypertrophic cardiomyopathy.
It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial. Mutations in 30 genes have been found to cause dilated cardiomyopathy or DCM.
Many other genes contribute to familial cardiomyopathy. Comprehensive genetic testing such as the Gx™ Cardiomyopathy Gene Panel is necessary to identify the underlying genetic cause(s).
The genetic causes for some cardiomyopathy patients remain unknown. Novel genetic causes for cardiomyopathy may be identified by a more comprehensive genetic test. Want to examine more genes for the diagnosis of novel genetic causes of rare diseases including cardiomyopathy? Click here to view our clinical whole exome sequencing.
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