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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.
Autosomal dominant inheritance (Orphanet)
 
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

Overcoming challenges in the management of arrhythmogenic right ventricular cardiomyopathy.
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
Inherited cardiac arrhythmias: diagnosis, treatment, and prevention.
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
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.
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
Progressive Reduction in Right Ventricular Contractile Function Attributable to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy.
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
Atrial fibrillation in patients with inherited cardiomyopathies.
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathy.
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
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.
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
Overcoming challenges in the management of arrhythmogenic right ventricular cardiomyopathy.
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
Arrhythmogenic Right Ventricular Dysplasia: An Under-recognized Form of Inherited Cardiomyopathy.
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
Arrhythmogenic right ventricular cardiomyopathy. Contribution of cardiac magnetic resonance imaging to the diagnosis.
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
Cardiac conduction disorders in children.
Steffensen TS, Barness EG
Front Biosci (Elite Ed) 2009 Jun 1;1(2):519-27. doi: 10.2741/E48. PMID: 19482666

Prognosis

Isolated JUP plakoglobin gene mutation with left ventricular fibrosis in familial arrhythmogenic right ventricular cardiomyopathy.
Zinkovsky D, Sood MR
J Cardiovasc Electrophysiol 2023 Oct;34(10):2112-2121. Epub 2023 Sep 17 doi: 10.1111/jce.16044. PMID: 37717241
Atrial fibrillation in patients with inherited cardiomyopathies.
Yeung C, Enriquez A, Suarez-Fuster L, Baranchuk A
Europace 2019 Jan 1;21(1):22-32. doi: 10.1093/europace/euy064. PMID: 29684120
Arrhythmogenic Right Ventricular Dysplasia: An Under-recognized Form of Inherited Cardiomyopathy.
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
Inherited cardiac arrhythmias: diagnosis, treatment, and prevention.
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
Role of genetic analysis in the management of patients with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
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

Arrhythmogenic Right Ventricular Dysplasia: An Under-recognized Form of Inherited Cardiomyopathy.
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
Scintigraphic spectrum of a patient population with suspected arrhythmogenic right ventricular dysplasia.
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
Prophylactic implantable defibrillator in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia and no prior ventricular fibrillation or sustained ventricular tachycardia.
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
Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
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
Follow-up of patients with arrhythmogenic right ventricular cardiomyopathy dysplasia.
Munclinger MJ, Patel JJ, Mitha AS
S Afr Med J 2000 Jan;90(1):61-8. PMID: 10721396

Recent systematic reviews

Arrhythmogenic Right Ventricular Cardiomyopathy Post-Mortem Assessment: A Systematic Review.
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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