Difference between revisions of "Dilated cardiomyopathy genetic testing"

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==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.<ref name="pmid23281406">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=3533274 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406  }}</ref>
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* 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.<ref name="pmid232814062">{{cite journal| author=McNally EM, Golbus JR, Puckelwartz MJ| title=Genetic mutations and mechanisms in dilated cardiomyopathy. | journal=J Clin Invest | year= 2013 | volume= 123 | issue= 1 | pages= 19-26 | pmid=23281406 | doi=10.1172/JCI62862 | pmc=3533274 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23281406  }}</ref>
 +
* Current studies are focusing on the role of multiple mutations, enhancer region mutations, copy number variation, and intronic variants.<ref name="pmid27547593">{{cite journal| author=Sweet M, Taylor MR, Mestroni L| title=Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. | journal=Expert Opin Orphan Drugs | year= 2015 | volume= 3 | issue= 8 | pages= 869-876 | pmid=27547593 | doi=10.1517/21678707.2015.1057498 | pmc=4988677 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27547593  }}</ref>
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==References==
 
==References==
 
{{Reflist|2}}
 
{{Reflist|2}}
  
 
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Latest revision as of 17:54, 4 December 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdelrahman Ibrahim Abushouk, MD[2]

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

  • 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

  1. 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.
  2. 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.
  3. 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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