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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

Authors:
Elizabeth McNally  |  Heather MacLeod  |  Lisa Dellefave-Castillo   view full author information

Additional descriptions

From GeneReviews Overview
Arrhythmogenic right ventricular cardiomyopathy (ARVC) – previously referred to as arrhythmogenic right ventricular dysplasia (ARVD) – is characterized by progressive fibrofatty replacement of the myocardium that predisposes to ventricular tachycardia and sudden death in young individuals and athletes. It primarily affects the right ventricle, and it may also involve the left ventricle. The presentation of disease is highly variable even within families, and some affected individuals may not meet established clinical criteria. The mean age at diagnosis is 31 years (±13; range: 4-64 years).
From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

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
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

Recent clinical studies

Etiology

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
Bosman LP, Te Riele ASJM
Heart 2022 Jan;108(2):90-97. Epub 2021 May 14 doi: 10.1136/heartjnl-2021-319113. PMID: 33990412
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
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
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

Diagnosis

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
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
Ye JZ, Delmar M, Lundby A, Olesen MS
Clin Genet 2019 Dec;96(6):506-514. Epub 2019 Aug 19 doi: 10.1111/cge.13621. PMID: 31402444
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

Therapy

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
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE
Circ Res 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187Free 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
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

Welkie R
JAAPA 2023 May 1;36(5):1-6. doi: 10.1097/01.JAA.0000918764.35264.75. PMID: 37097786
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
Bosman LP, Te Riele ASJM
Heart 2022 Jan;108(2):90-97. Epub 2021 May 14 doi: 10.1136/heartjnl-2021-319113. PMID: 33990412
Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE
Circ Res 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. PMID: 28912187Free PMC Article
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

Paldino A, Dal Ferro M, Stolfo D, Gandin I, Medo K, Graw S, Gigli M, Gagno G, Zaffalon D, Castrichini M, Masè M, Cannatà A, Brun F, Storm G, Severini GM, Lenarduzzi S, Girotto G, Gasparini P, Bortolotti F, Giacca M, Zacchigna S, Merlo M, Taylor MRG, Mestroni L, Sinagra G
J Am Coll Cardiol 2022 Nov 22;80(21):1981-1994. doi: 10.1016/j.jacc.2022.08.804. PMID: 36396199Free PMC Article
Bosman LP, Te Riele ASJM
Heart 2022 Jan;108(2):90-97. Epub 2021 May 14 doi: 10.1136/heartjnl-2021-319113. PMID: 33990412
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

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
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
Femia G, Sy RW, Puranik R
Int J Cardiol 2017 Aug 15;241:311-317. Epub 2017 Mar 19 doi: 10.1016/j.ijcard.2017.03.069. PMID: 28342631

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