Dilated cardiomyopathy screening: Difference between revisions
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Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC). | Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC). | ||
* | * In case of 2 or 3 family members affected with primary DCM, reening of relatives, screenign of first degree relatives, using electrocardiogram and echocardiography allows the identification of FDC. | ||
*FDC can be identified in 20–35% of DCM cases, while the remaining are classified as ‘idiopathic’ | *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. | *FCD is primarily an autosomal dominant disease; however, cases with autosomal recessive or X-linked inheritance have been recognized. | ||
Revision as of 17:12, 4 December 2019
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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: Abdelrahman Ibrahim Abushouk, MD[2]
Overview
Screening
Screening is only recommended in individuals who have a family history of Familial Dilated Cardiomyopathy (FDC).
- In case of 2 or 3 family members affected with primary DCM, reening of relatives, screenign of first degree relatives, using electrocardiogram and echocardiography allows the identification of FDC.
- 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.