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Arrhythmogenic right ventricular dysplasia 10(ARVD10; ARVC10)

MedGen UID:
347543
Concept ID:
C1857777
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular cardiomyopathy, type 10; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
 
Gene (location): DSG2 (18q12.1)
 
Monarch Initiative: MONDO:0012434
OMIM®: 610193

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
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.

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.  https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

From HPO
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
Right bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
Premature ventricular contraction
MedGen UID:
56236
Concept ID:
C0151636
Disease or Syndrome
Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node.
Prolonged PR interval
MedGen UID:
154645
Concept ID:
C0600125
Finding
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
Right ventricular cardiomyopathy
MedGen UID:
384481
Concept ID:
C2063326
Disease or Syndrome
Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
Increased circulating troponin I concentration
MedGen UID:
1636885
Concept ID:
C4703660
Finding
An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
Epsilon wave
MedGen UID:
1815063
Concept ID:
C5706157
Finding
An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.
Increased circulating creatine kinase MB isoform
MedGen UID:
1690106
Concept ID:
C5139211
Finding
An increased concentration of the MB isoform of creatine kinase in the blood circulation.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Wanert C, El Louali F, Al Dybiat S, Nguyen K, Zaffran S, Ovaert C
Arch Cardiovasc Dis 2023 Jun-Jul;116(6-7):309-315. Epub 2023 May 16 doi: 10.1016/j.acvd.2023.04.008. PMID: 37246080
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
Sen-Chowdhry S, Morgan RD, Chambers JC, McKenna WJ
Annu Rev Med 2010;61:233-53. doi: 10.1146/annurev.med.052208.130419. PMID: 20059337

Recent clinical studies

Etiology

Fujino M, Miyazaki A, Furukawa O, Somura J, Yoshida Y, Hayama Y, Kamakura S, Negishi J, Wada M, Kusano K, Ohuchi H
Heart Vessels 2021 Jun;36(6):863-873. Epub 2021 Jan 29 doi: 10.1007/s00380-020-01754-2. PMID: 33511492
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
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Brieler J, Breeden MA, Tucker J
Am Fam Physician 2017 Nov 15;96(10):640-646. PMID: 29431384
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Diagnosis

McCullough J, Perera RG
N Engl J Med 2022 Sep 8;387(10):e20. doi: 10.1056/NEJMicm2119255. PMID: 36069874
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
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
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Brieler J, Breeden MA, Tucker J
Am Fam Physician 2017 Nov 15;96(10):640-646. PMID: 29431384

Therapy

Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003Free PMC Article
Christensen AH, Platonov PG, Svensson A, Jensen HK, Rootwelt-Norberg C, Dahlberg P, Madsen T, Frederiksen TC, Heliö T, Haugaa KH, Bundgaard H, Svendsen JH
Europace 2022 Feb 2;24(2):306-312. doi: 10.1093/europace/euab112. PMID: 34279601
Cappelletto C, Gregorio C, Barbati G, Romani S, De Luca A, Merlo M, Mestroni L, Stolfo D, Sinagra G
Int J Cardiol 2021 Jul 1;334:58-64. Epub 2021 May 5 doi: 10.1016/j.ijcard.2021.04.069. PMID: 33961942
Gandjbakhch E, Varlet E, Duthoit G, Fressart V, Charron P, Himbert C, Maupain C, Bordet C, Hidden-Lucet F, Nizard J
Int J Cardiol 2018 May 1;258:172-178. doi: 10.1016/j.ijcard.2017.11.067. PMID: 29544927
Caldwell J, Redfearn D, Chiale PA, Baranchuk A
Heart Rhythm 2013 Nov;10(11):1737-8. Epub 2012 Aug 29 doi: 10.1016/j.hrthm.2012.08.038. PMID: 23102627

Prognosis

Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003Free PMC Article
Roudijk RW, Verheul L, Bosman LP, Bourfiss M, Breur JMPJ, Slieker MG, Blank AC, Dooijes D, van der Heijden JF, van den Heuvel F, Clur SA, Udink Ten Cate FEA, van den Berg MP, Wilde AAM, Asselbergs FW, Peter van Tintelen J, Te Riele ASJM
JACC Clin Electrophysiol 2022 Mar;8(3):306-318. Epub 2021 Dec 22 doi: 10.1016/j.jacep.2021.09.001. PMID: 35331425
Fujino M, Miyazaki A, Furukawa O, Somura J, Yoshida Y, Hayama Y, Kamakura S, Negishi J, Wada M, Kusano K, Ohuchi H
Heart Vessels 2021 Jun;36(6):863-873. Epub 2021 Jan 29 doi: 10.1007/s00380-020-01754-2. PMID: 33511492
Liang E, Wu L, Fan S, Li X, Hu F, Zheng L, Fan X, Chen G, Ding L, Yao Y
Am J Cardiol 2019 May 15;123(10):1690-1695. Epub 2019 Feb 23 doi: 10.1016/j.amjcard.2019.02.032. PMID: 30885416
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363

Clinical prediction guides

Bermudez-Jimenez FJ, Protonotarios A, García-Hernández S, Pérez Asensio A, Rampazzo A, Zorio E, Brodehl A, Arias MA, Macías-Ruiz R, Fernández-Armenta J, Remior Perez P, Muñoz-Esparza C, Pilichou K, Bauce B, Merino JL, Moliner-Abós C, Ochoa JP, Barriales-Villa R, Garcia-Pavia P, Lopes LR, Syrris P, Corrado D, Elliott PM, McKenna WJ, Jimenez-Jaimez J
JACC Clin Electrophysiol 2024 Jun;10(6):1178-1190. Epub 2024 May 8 doi: 10.1016/j.jacep.2024.02.031. PMID: 38727660
Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003Free PMC Article
Roudijk RW, Verheul L, Bosman LP, Bourfiss M, Breur JMPJ, Slieker MG, Blank AC, Dooijes D, van der Heijden JF, van den Heuvel F, Clur SA, Udink Ten Cate FEA, van den Berg MP, Wilde AAM, Asselbergs FW, Peter van Tintelen J, Te Riele ASJM
JACC Clin Electrophysiol 2022 Mar;8(3):306-318. Epub 2021 Dec 22 doi: 10.1016/j.jacep.2021.09.001. PMID: 35331425
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Recent systematic reviews

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
Grondin S, Wazirian AC, Jorda P, Terrone DG, Gagnon J, Robb L, Amyot J, Rivard L, Pagé S, Talajic M, Cadrin-Tourigny J, Tadros R
Am J Med Genet A 2020 Oct;182(10):2359-2368. Epub 2020 Aug 18 doi: 10.1002/ajmg.a.61799. PMID: 32808748
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
Mu J, Zhang G, Xue D, Xi M, Qi J, Dong H
Medicine (Baltimore) 2017 Nov;96(47):e8808. doi: 10.1097/MD.0000000000008808. PMID: 29381985Free PMC Article

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