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Arrhythmogenic right ventricular dysplasia 10(ARVD10; ARVC10)

MedGen UID:
347543
Concept ID:
C1857777
Disease or Syndrome
Synonyms: 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

Definition

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. [from MedlinePlus Genetics]

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.
Complete 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.
Elevated circulating CK-MB concentration
MedGen UID:
1690106
Concept ID:
C5139211
Finding
The concentration of CK-MB (= creatine kinase MB) in the blood circulation is above the upper limit of normal.
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

Muller SA, Murray B, Tichnell C, Salavati A, Loh P, Carrick RT, Cox MGPJ, van der Harst P, Cramer MJ, Oerlemans MIFJ, Gasperetti A, Asatryan B, Zimmerman SL, van Tintelen JP, Calkins H, James CA, Te Riele ASJM
Circ Arrhythm Electrophysiol 2026 Aug;19(8):e014420. Epub 2026 Jul 2 doi: 10.1161/CIRCEP.125.014420. PMID: 42389803Free PMC Article
Iezzi L, Sorella A, Galanti K, Gallina S, Chahal AA, Bauce B, Cipriani A, Providencia R, Lopes LR, Ricci F, Khanji MY
Eur Heart J Qual Care Clin Outcomes 2025 Nov 4;11(7):1033-1069. doi: 10.1093/ehjqcco/qcaf029. PMID: 40386976Free PMC Article
Muller SA, Bertoli G, Wang J, Gasperetti A, Cox MGPJ, Calkins H, Riele ASJMT, Judge DP, Delmar M, Hauer RNW, Boink GJJ, Cerrone M, Tintelen JPV, James CA
J Cardiovasc Electrophysiol 2025 Oct;36(10):2662-2670. Epub 2024 Dec 2 doi: 10.1111/jce.16519. PMID: 39623588Free PMC Article

Recent clinical studies

Etiology

Mengozzi L, Sriskandarajah R, Minopoli C, Androulakis E, Maritsa D, Tardo D, Halim K, Casian M, Abioye D, Morris-Rosendhal D, Specterman M, Tome M, Papadakis M, Sharma S, Behr ER, Finocchiaro G
Heart 2026 Aug 7 doi: 10.1136/heartjnl-2026-328138. PMID: 42567694
Muller SA, Murray B, Tichnell C, Salavati A, Loh P, Carrick RT, Cox MGPJ, van der Harst P, Cramer MJ, Oerlemans MIFJ, Gasperetti A, Asatryan B, Zimmerman SL, van Tintelen JP, Calkins H, James CA, Te Riele ASJM
Circ Arrhythm Electrophysiol 2026 Aug;19(8):e014420. Epub 2026 Jul 2 doi: 10.1161/CIRCEP.125.014420. PMID: 42389803Free PMC Article
Coderre R, Martinez KA, Castrichini M, Bos JM, Giudicessi JR, Ackerman MJ
JACC Clin Electrophysiol 2026 Aug;12(8):1886-1895. Epub 2026 Apr 8 doi: 10.1016/j.jacep.2026.02.021. PMID: 41954551
Martini N, Pittorru R, Celeghin R, Civieri G, Bueno Marinas M, De Gaspari M, Cecere A, Rigato I, De Conti G, Corradin S, Lorenzoni G, De Lazzari M, Bauce B, Zorzi A, Gregori D, Basso C, Corrado D, Migliore F, Pilichou K, Cipriani A, Perazzolo Marra M
JACC Clin Electrophysiol 2026 Aug;12(8):1833-1842. Epub 2026 Mar 16 doi: 10.1016/j.jacep.2026.02.019. PMID: 41837920
Bialobroda J, Charpentier E, Duthoit G, Waintraub X, Badenco N, Cochet H, Gandjbakhch E, Redheuil A, Kachenoura N, Laredo M
Heart Rhythm 2026 Jun;23(6):1279-1288. Epub 2025 Sep 11 doi: 10.1016/j.hrthm.2025.09.009. PMID: 40945559

Diagnosis

Mengozzi L, Sriskandarajah R, Minopoli C, Androulakis E, Maritsa D, Tardo D, Halim K, Casian M, Abioye D, Morris-Rosendhal D, Specterman M, Tome M, Papadakis M, Sharma S, Behr ER, Finocchiaro G
Heart 2026 Aug 7 doi: 10.1136/heartjnl-2026-328138. PMID: 42567694
Muller SA, Murray B, Tichnell C, Salavati A, Loh P, Carrick RT, Cox MGPJ, van der Harst P, Cramer MJ, Oerlemans MIFJ, Gasperetti A, Asatryan B, Zimmerman SL, van Tintelen JP, Calkins H, James CA, Te Riele ASJM
Circ Arrhythm Electrophysiol 2026 Aug;19(8):e014420. Epub 2026 Jul 2 doi: 10.1161/CIRCEP.125.014420. PMID: 42389803Free PMC Article
Coderre R, Martinez KA, Castrichini M, Bos JM, Giudicessi JR, Ackerman MJ
JACC Clin Electrophysiol 2026 Aug;12(8):1886-1895. Epub 2026 Apr 8 doi: 10.1016/j.jacep.2026.02.021. PMID: 41954551
Martini N, Pittorru R, Celeghin R, Civieri G, Bueno Marinas M, De Gaspari M, Cecere A, Rigato I, De Conti G, Corradin S, Lorenzoni G, De Lazzari M, Bauce B, Zorzi A, Gregori D, Basso C, Corrado D, Migliore F, Pilichou K, Cipriani A, Perazzolo Marra M
JACC Clin Electrophysiol 2026 Aug;12(8):1833-1842. Epub 2026 Mar 16 doi: 10.1016/j.jacep.2026.02.019. PMID: 41837920
Bialobroda J, Charpentier E, Duthoit G, Waintraub X, Badenco N, Cochet H, Gandjbakhch E, Redheuil A, Kachenoura N, Laredo M
Heart Rhythm 2026 Jun;23(6):1279-1288. Epub 2025 Sep 11 doi: 10.1016/j.hrthm.2025.09.009. PMID: 40945559

Therapy

Stangner K, Dervishi O, Kuhnert J, Wendt C, Pathak S, Shoykhet M, Olivares-Florez S, Moztarzadeh S, Opsteen J, Wohlfarth NLCS, Biller R, Graf E, Westphal DS, Williams T, Gerull B, Šarić T, Yeruva S, Waschke J
Stem Cell Res Ther 2025 Nov 4;16(1):609. doi: 10.1186/s13287-025-04755-y. PMID: 41185038Free PMC Article
Gaine S, Rolland T, Asatryan B, Laredo M, Sampognaro J, Carrick RT, Peretto G, Muller S, Villatore A, Murray B, Tichnell C, Te Riele ASJM, Loh P, Compagnucci P, Casella M, Martini M, Schiavone M, Tondo C, Cappelletto C, Sinagra G, Merlo M, Jankelson L, Delmar M, Targetti M, Pieroni M, Olivotto I, Calò L, Graziosi M, Biagini E, Tandri H, Bauce B, James C, Cerrone M, Calkins H, Gandjbakhch E, Gasperetti A
JACC Clin Electrophysiol 2025 Jun;11(6):1159-1170. Epub 2025 Apr 16 doi: 10.1016/j.jacep.2025.02.023. PMID: 40243965
Jacobsen AP, Chiampas K, Muller SA, Gasperetti A, Yanek LR, Carrick RT, Gordon C, Tichnell C, Murray B, Calkins H, Barouch LA, James CA
Heart Rhythm 2025 Nov;22(11):2924-2931. Epub 2024 Dec 30 doi: 10.1016/j.hrthm.2024.12.035. PMID: 39742986
Muller SA, Bertoli G, Wang J, Gasperetti A, Cox MGPJ, Calkins H, Riele ASJMT, Judge DP, Delmar M, Hauer RNW, Boink GJJ, Cerrone M, Tintelen JPV, James CA
J Cardiovasc Electrophysiol 2025 Oct;36(10):2662-2670. Epub 2024 Dec 2 doi: 10.1111/jce.16519. PMID: 39623588Free PMC Article
Singh RP, Singh P, Kler TS, Sharma SM
Cureus 2024 Oct;16(10):e72675. Epub 2024 Oct 30 doi: 10.7759/cureus.72675. PMID: 39618582Free PMC Article

Prognosis

Mengozzi L, Sriskandarajah R, Minopoli C, Androulakis E, Maritsa D, Tardo D, Halim K, Casian M, Abioye D, Morris-Rosendhal D, Specterman M, Tome M, Papadakis M, Sharma S, Behr ER, Finocchiaro G
Heart 2026 Aug 7 doi: 10.1136/heartjnl-2026-328138. PMID: 42567694
Muller SA, Murray B, Tichnell C, Salavati A, Loh P, Carrick RT, Cox MGPJ, van der Harst P, Cramer MJ, Oerlemans MIFJ, Gasperetti A, Asatryan B, Zimmerman SL, van Tintelen JP, Calkins H, James CA, Te Riele ASJM
Circ Arrhythm Electrophysiol 2026 Aug;19(8):e014420. Epub 2026 Jul 2 doi: 10.1161/CIRCEP.125.014420. PMID: 42389803Free PMC Article
Martini N, Pittorru R, Celeghin R, Civieri G, Bueno Marinas M, De Gaspari M, Cecere A, Rigato I, De Conti G, Corradin S, Lorenzoni G, De Lazzari M, Bauce B, Zorzi A, Gregori D, Basso C, Corrado D, Migliore F, Pilichou K, Cipriani A, Perazzolo Marra M
JACC Clin Electrophysiol 2026 Aug;12(8):1833-1842. Epub 2026 Mar 16 doi: 10.1016/j.jacep.2026.02.019. PMID: 41837920
Donati TG, Ortelli F, Hebeisen M, Protonotarios A, Olsen PAS, Saguner AM, Duru F, Savvatis K, Elliott PM, Haugaa KH, Tanner FC
JACC Cardiovasc Imaging 2026 May;19(5):571-584. Epub 2025 Dec 4 doi: 10.1016/j.jcmg.2025.10.019. PMID: 41342822
Martini M, Brizzi LF, Pinci S, Rigato I, Corrado D, Pilichou K, Bauce B
Heart Rhythm 2026 Feb;23(2):e162-e171. Epub 2025 Oct 9 doi: 10.1016/j.hrthm.2025.09.046. PMID: 41067474

Clinical prediction guides

Mengozzi L, Sriskandarajah R, Minopoli C, Androulakis E, Maritsa D, Tardo D, Halim K, Casian M, Abioye D, Morris-Rosendhal D, Specterman M, Tome M, Papadakis M, Sharma S, Behr ER, Finocchiaro G
Heart 2026 Aug 7 doi: 10.1136/heartjnl-2026-328138. PMID: 42567694
Muller SA, Murray B, Tichnell C, Salavati A, Loh P, Carrick RT, Cox MGPJ, van der Harst P, Cramer MJ, Oerlemans MIFJ, Gasperetti A, Asatryan B, Zimmerman SL, van Tintelen JP, Calkins H, James CA, Te Riele ASJM
Circ Arrhythm Electrophysiol 2026 Aug;19(8):e014420. Epub 2026 Jul 2 doi: 10.1161/CIRCEP.125.014420. PMID: 42389803Free PMC Article
Ariyaratne GHDN, Villatore A, Peretto G, Chelko SP
Cells 2026 May 9;15(10) doi: 10.3390/cells15100868. PMID: 42193878Free PMC Article
Martini N, Pittorru R, Celeghin R, Civieri G, Bueno Marinas M, De Gaspari M, Cecere A, Rigato I, De Conti G, Corradin S, Lorenzoni G, De Lazzari M, Bauce B, Zorzi A, Gregori D, Basso C, Corrado D, Migliore F, Pilichou K, Cipriani A, Perazzolo Marra M
JACC Clin Electrophysiol 2026 Aug;12(8):1833-1842. Epub 2026 Mar 16 doi: 10.1016/j.jacep.2026.02.019. PMID: 41837920
Donati TG, Ortelli F, Hebeisen M, Protonotarios A, Olsen PAS, Saguner AM, Duru F, Savvatis K, Elliott PM, Haugaa KH, Tanner FC
JACC Cardiovasc Imaging 2026 May;19(5):571-584. Epub 2025 Dec 4 doi: 10.1016/j.jcmg.2025.10.019. PMID: 41342822

Recent systematic reviews

Iezzi L, Sorella A, Galanti K, Gallina S, Chahal AA, Bauce B, Cipriani A, Providencia R, Lopes LR, Ricci F, Khanji MY
Eur Heart J Qual Care Clin Outcomes 2025 Nov 4;11(7):1033-1069. doi: 10.1093/ehjqcco/qcaf029. PMID: 40386976Free 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
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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