Dilated cardiomyopathy genetic testing
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdelrahman Ibrahim Abushouk, MD[2]
Overview
Overview
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.
Genetic Testing
Genetic Testing
- 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.[1]
- 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.
- A full list of the genes that have been associated with DCM can be found in the Pathophysiology section.
- 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.[2]
- Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.[3]
References
References
- ↑ McNally EM, Golbus JR, Puckelwartz MJ (2013). “Genetic mutations and mechanisms in dilated cardiomyopathy”. J Clin Invest. 123 (1): 19–26. doi:10.1172/JCI62862. PMC 3533274. PMID 23281406.
- ↑ McNally EM, Golbus JR, Puckelwartz MJ (2013). “Genetic mutations and mechanisms in dilated cardiomyopathy”. J Clin Invest. 123 (1): 19–26. doi:10.1172/JCI62862. PMC 3533274. PMID 23281406.
- ↑ Sweet M, Taylor MR, Mestroni L (2015). “Diagnosis, prevalence, and screening of familial dilated cardiomyopathy”. Expert Opin Orphan Drugs. 3 (8): 869–876. doi:10.1517/21678707.2015.1057498. PMC 4988677. PMID 27547593.
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