Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial isolated arrhythmogenic right ventricular dysplasia

Disorder by Site
- Disorder of cardiovascular system
  - Abnormality of the cardiovascular system
    - Abnormal cardiovascular system morphology
      - Abnormal heart morphology
        Arrhythmogenic right ventricular cardiomyopathy
        Familial isolated arrhythmogenic right ventricular dysplasia
        Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
        Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
        Familial isolated arrhythmogenic ventricular dysplasia, right dominant form

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: 21977220 Free 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

See all (3)

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: 38473714 Free 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

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

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

See all (15)

Diagnosis

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

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

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

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

See all (20)

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

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

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

See all (11)

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: 18313022 Free 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

See all (6)

Recent systematic reviews

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

See all (1)

MedGen

National Center for Biotechnology Information

Send to:

Familial isolated arrhythmogenic right ventricular dysplasia

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

Related information

Recent activity