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Familial isolated arrhythmogenic right ventricular dysplasia

MedGen UID:
901869
Concept ID:
C4274968
Disease or Syndrome
Synonyms: Familial isolated arrhythmogenic right ventricular cardiomyopathy; familial isolated arrhythmogenic right ventricular cardiomyopathy; familial isolated arrhythmogenic right ventricular dysplasia; Familial isolated arrhythmogenic ventricular cardiomyopathy; familial isolated arrhythmogenic ventricular cardiomyopathy; Familial isolated arrhythmogenic ventricular dysplasia; familial isolated arrhythmogenic ventricular dysplasia; Familial isolated ARVC; familial isolated ARVC; familial isolated ARVD; Familial isolated ARVD; Familial isolated ARVD (arrhythmogenic right ventricular dysplasia)
SNOMED CT: Familial isolated arrhythmogenic right ventricular dysplasia (715865008); Familial isolated ARVD (arrhythmogenic right ventricular dysplasia) (715865008); Familial isolated arrhythmogenic right ventricular cardiomyopathy (715865008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0016342
OMIM® Phenotypic series: PS107970
Orphanet: ORPHA217656

Definition

Familial autosomal dominant form of arrhythmogenic right ventricular dysplasia, a heart muscle disease with life-threatening ventricular arrhythmias and left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks. [from SNOMEDCT_US]

Professional guidelines

PubMed

Kubala M, Tschabrunn C, Marchlinski DF, Marchlinski FE
Kardiol Pol 2020 May 25;78(5):386-395. Epub 2020 May 19 doi: 10.33963/KP.15374. PMID: 32431133
Beckmann BM, Pfeufer A, Kääb S
Dtsch Arztebl Int 2011 Sep;108(37):623-33; quiz 634. Epub 2011 Sep 16 doi: 10.3238/arztebl.2011.0623. PMID: 21977220Free PMC Article
Sen-Chowdhry S, Syrris P, McKenna WJ
J Am Coll Cardiol 2007 Nov 6;50(19):1813-21. Epub 2007 Oct 24 doi: 10.1016/j.jacc.2007.08.008. PMID: 17980246

Recent clinical studies

Etiology

Cianci V, Forzese E, Sapienza D, Cianci A, Ieni A, Germanà A, Guerrera MC, Omero F, Speranza D, Cracò A, Asmundo A, Gualniera P, Mondello C
Int J Mol Sci 2024 Feb 20;25(5) doi: 10.3390/ijms25052467. PMID: 38473714Free PMC Article
Camors EM, Roth AH, Alef JR, Sullivan RD, Johnson JN, Purevjav E, Towbin JA
Circulation 2022 May 24;145(21):1609-1624. Epub 2022 Apr 19 doi: 10.1161/CIRCULATIONAHA.120.049261. PMID: 35437032Free PMC Article
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Rizzo S, Pilichou K, Thiene G, Basso C
Cell Tissue Res 2012 May;348(2):319-23. Epub 2012 Apr 4 doi: 10.1007/s00441-012-1402-z. PMID: 22476658
Sen-Chowdhry S, Syrris P, McKenna WJ
J Am Coll Cardiol 2007 Nov 6;50(19):1813-21. Epub 2007 Oct 24 doi: 10.1016/j.jacc.2007.08.008. PMID: 17980246

Diagnosis

Cianci V, Forzese E, Sapienza D, Cianci A, Ieni A, Germanà A, Guerrera MC, Omero F, Speranza D, Cracò A, Asmundo A, Gualniera P, Mondello C
Int J Mol Sci 2024 Feb 20;25(5) doi: 10.3390/ijms25052467. PMID: 38473714Free PMC Article
Kubala M, Tschabrunn C, Marchlinski DF, Marchlinski FE
Kardiol Pol 2020 May 25;78(5):386-395. Epub 2020 May 19 doi: 10.33963/KP.15374. PMID: 32431133
Perazzolo Marra M, Rizzo S, Bauce B, De Lazzari M, Pilichou K, Corrado D, Thiene G, Iliceto S, Basso C
Herz 2015 Jun;40(4):600-6. doi: 10.1007/s00059-015-4228-0. PMID: 26077775
Beckmann BM, Pfeufer A, Kääb S
Dtsch Arztebl Int 2011 Sep;108(37):623-33; quiz 634. Epub 2011 Sep 16 doi: 10.3238/arztebl.2011.0623. PMID: 21977220Free PMC Article
di Cesare E
Eur Radiol 2003 Jun;13(6):1387-93. Epub 2002 Dec 19 doi: 10.1007/s00330-002-1771-x. PMID: 12764656

Prognosis

Zinkovsky D, Sood MR
J Cardiovasc Electrophysiol 2023 Oct;34(10):2112-2121. Epub 2023 Sep 17 doi: 10.1111/jce.16044. PMID: 37717241
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Adesina GO, Hall SA, Mendez JC, Joseph SM, Gottlieb RL, Kale PP, Bindra AS
Rev Cardiovasc Med 2017;18(1):37-43. doi: 10.3909/ricm0855. PMID: 28509892
Merabet Y, Bontemps L, Chevalier P, Itti R
Int J Cardiovasc Imaging 2012 Jun;28(5):1267-77. Epub 2011 Jul 6 doi: 10.1007/s10554-011-9918-y. PMID: 21732029
Sen-Chowdhry S, Syrris P, McKenna WJ
J Am Coll Cardiol 2007 Nov 6;50(19):1813-21. Epub 2007 Oct 24 doi: 10.1016/j.jacc.2007.08.008. PMID: 17980246

Clinical prediction guides

Adesina GO, Hall SA, Mendez JC, Joseph SM, Gottlieb RL, Kale PP, Bindra AS
Rev Cardiovasc Med 2017;18(1):37-43. doi: 10.3909/ricm0855. PMID: 28509892
Merabet Y, Bontemps L, Chevalier P, Itti R
Int J Cardiovasc Imaging 2012 Jun;28(5):1267-77. Epub 2011 Jul 6 doi: 10.1007/s10554-011-9918-y. PMID: 21732029
Corrado D, Calkins H, Link MS, Leoni L, Favale S, Bevilacqua M, Basso C, Ward D, Boriani G, Ricci R, Piccini JP, Dalal D, Santini M, Buja G, Iliceto S, Estes NA 3rd, Wichter T, McKenna WJ, Thiene G, Marcus FI
Circulation 2010 Sep 21;122(12):1144-52. Epub 2010 Sep 7 doi: 10.1161/CIRCULATIONAHA.109.913871. PMID: 20823389
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL
Am J Hum Genet 2008 Apr;82(4):809-21. Epub 2008 Feb 28 doi: 10.1016/j.ajhg.2008.01.010. PMID: 18313022Free PMC Article
Munclinger MJ, Patel JJ, Mitha AS
S Afr Med J 2000 Jan;90(1):61-8. PMID: 10721396

Recent systematic reviews

Cianci V, Forzese E, Sapienza D, Cianci A, Ieni A, Germanà A, Guerrera MC, Omero F, Speranza D, Cracò A, Asmundo A, Gualniera P, Mondello C
Int J Mol Sci 2024 Feb 20;25(5) doi: 10.3390/ijms25052467. PMID: 38473714Free PMC Article

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