Dilated cardiomyopathy other diagnostic studies: Difference between revisions
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==Overview== | ==Overview== | ||
Endomyocardial [[biopsy]] has low sensitivy and the findings are also notoriously non-specific. | Endomyocardial [[biopsy]] has low sensitivy and the findings are also notoriously non-specific. The findings on biopsy usually involve findings of [[inflammation]] and specific [[pathogens]] are unlikely to be identified. There may be an increased yield to using MRI to target endomyocardial biopsy. Viral titiers (serologies) are often unhelpful and not routinely ordered in clinical practice. About 40 genes are c.urrently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included. | ||
==Genetic Testing== | ==Other Diagnostic Studies== | ||
===Genetic Testing=== | |||
* 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. | ||
* 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> | * 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> | ||
* 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. | * 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 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> | * 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> | * 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> | ||
=== Endometrial Biopsy === | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 21:37, 12 December 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Endomyocardial biopsy has low sensitivy and the findings are also notoriously non-specific. The findings on biopsy usually involve findings of inflammation and specific pathogens are unlikely to be identified. There may be an increased yield to using MRI to target endomyocardial biopsy. Viral titiers (serologies) are often unhelpful and not routinely ordered in clinical practice. About 40 genes are c.urrently included in genetic testing; however, mutations in >60 other genes have been linked to FCD, but are yet to be included.
Other Diagnostic Studies
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]
Endometrial Biopsy
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.