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Arrhythmogenic right ventricular cardiomyopathy(ARVD)

MedGen UID:
87618
Concept ID:
C0349788
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular dysplasia; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy; ARVD; Cardiomyopathy, ARVC
SNOMED CT: Arrhythmogenic right ventricular dysplasia (253528005); Arrhythmogenic right ventricular cardiomyopathy (253528005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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.
 
Genes (locations): DSC2 (18q12.1); DSG2 (18q12.1); DSP (6p24.3); JUP (17q21.2); PKP2 (12p11.21); TMEM43 (3p25.1)
Related gene: TGFB3
 
Monarch Initiative: MONDO:0016587
Orphanet: ORPHA247

Definition

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a form of heart disease that usually appears in adulthood. ARVC is a disorder of the myocardium, which is the muscular wall of the heart. This condition causes part of the myocardium to break down over time, increasing the risk of an abnormal heartbeat (arrhythmia) and sudden death.

ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Corrado D, Anastasakis A, Basso C, Bauce B, Blomström-Lundqvist C, Bucciarelli-Ducci C, Cipriani A, De Asmundis C, Gandjbakhch E, Jiménez-Jáimez J, Kharlap M, McKenna WJ, Monserrat L, Moon J, Pantazis A, Pelliccia A, Perazzolo Marra M, Pillichou K, Schulz-Menger J, Jurcut R, Seferovic P, Sharma S, Tfelt-Hansen J, Thiene G, Wichter T, Wilde A, Zorzi A
Int J Cardiol 2024 Jan 15;395:131447. Epub 2023 Oct 14 doi: 10.1016/j.ijcard.2023.131447. PMID: 37844667
Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP; ESC Scientific Document Group
Eur Heart J 2023 Oct 1;44(37):3503-3626. doi: 10.1093/eurheartj/ehad194. PMID: 37622657
Corrado D, Zorzi A, Cipriani A, Bauce B, Bariani R, Beffagna G, De Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Perazzolo Marra M, Basso C
J Am Heart Assoc 2021 Sep 21;10(18):e021987. Epub 2021 Sep 17 doi: 10.1161/JAHA.121.021987. PMID: 34533054Free PMC Article

Recent clinical studies

Etiology

Al-Aidarous S, Protonotarios A, Elliott PM, Lambiase PD
Heart 2024 Jan 10;110(3):156-162. doi: 10.1136/heartjnl-2023-322612. PMID: 37433658
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
McKenna WJ, Judge DP
Nat Rev Cardiol 2021 Jan;18(1):22-36. Epub 2020 Sep 7 doi: 10.1038/s41569-020-0428-2. PMID: 32895535
Towbin JA, McKenna WJ, Abrams DJ, Ackerman MJ, Calkins H, Darrieux FCC, Daubert JP, de Chillou C, DePasquale EC, Desai MY, Estes NAM 3rd, Hua W, Indik JH, Ingles J, James CA, John RM, Judge DP, Keegan R, Krahn AD, Link MS, Marcus FI, McLeod CJ, Mestroni L, Priori SG, Saffitz JE, Sanatani S, Shimizu W, van Tintelen JP, Wilde AAM, Zareba W
Heart Rhythm 2019 Nov;16(11):e301-e372. Epub 2019 May 9 doi: 10.1016/j.hrthm.2019.05.007. PMID: 31078652
Basso C, Corrado D, Bauce B, Thiene G
Circ Arrhythm Electrophysiol 2012 Dec;5(6):1233-46. Epub 2012 Sep 27 doi: 10.1161/CIRCEP.111.962035. PMID: 23022706

Diagnosis

McCullough J, Perera RG
N Engl J Med 2022 Sep 8;387(10):e20. doi: 10.1056/NEJMicm2119255. PMID: 36069874
Cunningham SM, Dos Santos L
J Vet Cardiol 2022 Apr;40:156-169. Epub 2021 Jul 23 doi: 10.1016/j.jvc.2021.07.001. PMID: 34503916
McKenna WJ, Judge DP
Nat Rev Cardiol 2021 Jan;18(1):22-36. Epub 2020 Sep 7 doi: 10.1038/s41569-020-0428-2. PMID: 32895535
Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R
J Am Coll Cardiol 2018 Aug 14;72(7):784-804. doi: 10.1016/j.jacc.2018.05.065. PMID: 30092956
Basso C, Corrado D, Bauce B, Thiene G
Circ Arrhythm Electrophysiol 2012 Dec;5(6):1233-46. Epub 2012 Sep 27 doi: 10.1161/CIRCEP.111.962035. PMID: 23022706

Therapy

Al-Aidarous S, Protonotarios A, Elliott PM, Lambiase PD
Heart 2024 Jan 10;110(3):156-162. doi: 10.1136/heartjnl-2023-322612. PMID: 37433658
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183
Corrado D, Link MS, Calkins H
N Engl J Med 2017 Jan 5;376(1):61-72. doi: 10.1056/NEJMra1509267. PMID: 28052233
Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W
Eur Heart J 2010 Apr;31(7):806-14. Epub 2010 Feb 19 doi: 10.1093/eurheartj/ehq025. PMID: 20172912Free PMC Article

Prognosis

Polovina M, Tschöpe C, Rosano G, Metra M, Crea F, Mullens W, Bauersachs J, Sliwa K, de Boer RA, Farmakis D, Thum T, Corrado D, Bayes-Genis A, Bozkurt B, Filippatos G, Keren A, Skouri H, Moura B, Volterrani M, Abdelhamid M, Ašanin M, Krljanac G, Tomić M, Savarese G, Adamo M, Lopatin Y, Chioncel O, Coats AJS, Seferović PM
Eur J Heart Fail 2023 Dec;25(12):2144-2163. Epub 2023 Nov 14 doi: 10.1002/ejhf.3076. PMID: 37905371
Wang Y, Jia H, Song J
Curr Cardiol Rep 2023 Oct;25(10):1299-1317. Epub 2023 Sep 15 doi: 10.1007/s11886-023-01944-0. PMID: 37721634Free PMC Article
Cunningham SM, Dos Santos L
J Vet Cardiol 2022 Apr;40:156-169. Epub 2021 Jul 23 doi: 10.1016/j.jvc.2021.07.001. PMID: 34503916
Masarone D, Kaski JP, Pacileo G, Elliott PM, Bossone E, Day SM, Limongelli G
Heart Fail Clin 2018 Apr;14(2):119-128. doi: 10.1016/j.hfc.2017.12.007. PMID: 29525641
Corrado D, Link MS, Calkins H
N Engl J Med 2017 Jan 5;376(1):61-72. doi: 10.1056/NEJMra1509267. PMID: 28052233

Clinical prediction guides

Mohammed F, Chidgey M
J Struct Biol 2021 Sep;213(3):107749. Epub 2021 May 24 doi: 10.1016/j.jsb.2021.107749. PMID: 34033898
Schaufelberger M
Heart 2019 Oct;105(20):1543-1551. Epub 2019 Jul 15 doi: 10.1136/heartjnl-2018-313476. PMID: 31308064Free PMC Article
Corrado D, Basso C, Judge DP
Circ Res 2017 Sep 15;121(7):784-802. doi: 10.1161/CIRCRESAHA.117.309345. PMID: 28912183
Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH
Genet Med 2014 Aug;16(8):601-8. Epub 2014 Feb 6 doi: 10.1038/gim.2013.204. PMID: 24503780
Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, Sajadieh A, Haunsø S, Svendsen JH, Olesen MS
Eur J Hum Genet 2013 Sep;21(9):918-28. Epub 2013 Jan 9 doi: 10.1038/ejhg.2012.283. PMID: 23299917Free PMC Article

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
Sharma A, Bosman LP, Tichnell C, Nanavati J, Murray B, Nonyane BAS, Tandri H, Calkins H, James CA
Circ Genom Precis Med 2022 Jun;15(3):e003530. Epub 2022 May 17 doi: 10.1161/CIRCGEN.121.003530. PMID: 35579515
Rujirachun P, Wattanachayakul P, Charoenngam N, Winijkul A, Ungprasert P
J Cardiovasc Med (Hagerstown) 2020 May;21(5):368-376. doi: 10.2459/JCM.0000000000000962. PMID: 32243340
James CA, Calkins H
Annu Rev Med 2019 Jan 27;70:1-18. Epub 2018 Oct 24 doi: 10.1146/annurev-med-041217-010932. PMID: 30355260
Bosman LP, Sammani A, James CA, Cadrin-Tourigny J, Calkins H, van Tintelen JP, Hauer RNW, Asselbergs FW, Te Riele ASJM
Heart Rhythm 2018 Jul;15(7):1097-1107. Epub 2018 Feb 3 doi: 10.1016/j.hrthm.2018.01.031. PMID: 29408436

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