familial isolated arrhythmogenic right ventricular dysplasia
Go to external page http://purl.obolibrary.org/obo/MONDO_0016342
Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. [ Orphanet:217656 ]
Synonyms: familial isolated arrhythmogenic right ventricular cardiomyopathy familial isolated arrhythmogenic ventricular dysplasia familial isolated ARVC familial isolated arrhythmogenic right ventricular dysplasia familial isolated ARVD familial isolated arrhythmogenic ventricular cardiomyopathy
Term information
- UMLS:C4274968 (MONDO:equivalentTo)
- GARD:17129 (MONDO:GARD)
- OMIMPS:107970 (MONDO:equivalentTo)
- MEDGEN:901869 (MONDO:equivalentTo)
- SCTID:715865008 (MONDO:equivalentTo)
- Orphanet:217656 (MONDO:equivalentTo)
ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare, clingen
http://linkedlifedata.com/resource/umls/id/C4274968
http://identifiers.org/snomedct/715865008
http://www.orpha.net/ORDO/Orphanet_217656
http://identifiers.org/medgen/901869
https://omim.org/phenotypicSeries/PS107970