Dilated cardiomyopathy screening
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Dilated cardiomyopathy Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Dilated cardiomyopathy screening On the Web |
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American Roentgen Ray Society Images of Dilated cardiomyopathy screening |
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Risk calculators and risk factors for Dilated cardiomyopathy screening |
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.
- Recent guidelines from the Cardiac Genetic Diseases Council recommend genetic screening for family members at risk of developing FDC.
- A cohort study by Haas et al. showed that the genetic mutations in FCD overlap with other cardiomyopathies, highlighting the value of genetic testing in different types of cardiomyopathy.
- Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.