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 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [[1]]; Associate Editor(s)-in-Chief: {{AIA}}
Overview
Screening
Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC).
- Screening of relatives, in particular first degree relatives, of primary DCM cases using electrocardiogram and echocardiography to measure left ventricle size and function allow the identification of FDC, where two or more family members are affected by cardiomyopathy.
- FDC can be identified in 20–35% of DCM cases, while the remaining are classified as ‘idiopathic’
- 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.