arrhythmogenic right ventricular cardiomyopathy

Summary
Synonym
  • ARVC
  • ARVC cardiomyopathy
  • ARVD
  • arrhythmogenic right ventricular dysplasia
  • arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • right ventricular ACM
Definition
An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle.
Super Class
intrinsic cardiomyopathy
External Links
Disease Ontology
DOID:0050431
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
2194 FASN fatty acid synthase
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
8809 IL18R1 interleukin 18 receptor 1
9200 HACD1 3-hydroxyacyl-CoA dehydratase 1
79158 GNPTAB N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024