Dilated cardiomyopathy screening: Difference between revisions
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{{Dilated cardiomyopathy}} | {{Dilated cardiomyopathy}} | ||
Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC). | |||
* FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized. | |||
* Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD. | |||
* About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included. | |||
* Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants. | |||
==References== | ==References== |
Revision as of 16:47, 4 December 2019
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Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC).
- FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized.
- Genetic studies have revealed an underlying genetic mutation in 30 to 40% of patients with FCD.
- About 40 genes are currently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
- Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.