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Arrhythmogenic right ventricular dysplasia 12(ARVD12; ARVC12)

MedGen UID:
409749
•Concept ID:
C1969081
•
Disease or Syndrome
Synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12
 
Gene (location): JUP (17q21.2)
 
Monarch Initiative: MONDO:0012684
OMIM®: 611528

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]

Clinical features

From HPO
Palmoplantar keratoderma
MedGen UID:
1635750
•Concept ID:
C4551675
•
Disease or Syndrome
Abnormal thickening of the skin of the palms of the hands and the soles of the feet.
See: Feature record | Search on this feature
Syncope
MedGen UID:
21443
•Concept ID:
C0039070
•
Sign or Symptom
A transient loss of consciousness (i.e., characterized by a rapid onset, a short duration, and a spontaneous and complete recovery) due to cerebral hypoperfusion.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Prolonged QRS complex
MedGen UID:
489828
•Concept ID:
C0235475
•
Finding
Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec.
See: Feature record | Search on this feature
T-wave inversion
MedGen UID:
105467
•Concept ID:
C0520888
•
Finding
An inversion of the T-wave (which is normally positive).
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Genotype-Specific Outcomes of Desmosomal Cardiomyopathies.
Pergola V, Trancuccio A, Kukavica D, Mazzanti A, Napolitano C, Scilabra GG, Steele K, Memmi M, Gambelli P, Sugamiele A, Latini AC, Pisani N, Mazzotta G, Bloise R, Morini M, Marino M, Priori SG
Circulation 2025 Jul 29;152(4):233-245. Epub 2025 May 23 doi: 10.1161/CIRCULATIONAHA.124.073475. PMID: 40406876
ECG-based techniques to enhance clinical practice in cardiac genetic disease management.
Boonstra M, Kloosterman M, van der Schaaf I, Roudijk R, van Dam P, Loh P
J Electrocardiol 2023 Jan-Feb;76:55-60. Epub 2022 Nov 14 doi: 10.1016/j.jelectrocard.2022.10.013. PMID: 36436475
Diagnosis and treatment of idiopathic ventricular tachycardia.
Chiu C, Sequeira IB
AACN Clin Issues 2004 Jul-Sep;15(3):449-61. doi: 10.1097/00044067-200407000-00011. PMID: 15475817

Recent clinical studies

Etiology

Genotype-Specific Outcomes of Desmosomal Cardiomyopathies.
Pergola V, Trancuccio A, Kukavica D, Mazzanti A, Napolitano C, Scilabra GG, Steele K, Memmi M, Gambelli P, Sugamiele A, Latini AC, Pisani N, Mazzotta G, Bloise R, Morini M, Marino M, Priori SG
Circulation 2025 Jul 29;152(4):233-245. Epub 2025 May 23 doi: 10.1161/CIRCULATIONAHA.124.073475. PMID: 40406876
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
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
Role of plakophilin-2 expression on exercise-related progression of arrhythmogenic right ventricular cardiomyopathy: a translational study.
Cerrone M, Marrón-Liñares GM, van Opbergen CJM, Costa S, Bourfiss M, Pérez-Hernández M, Schlamp F, Sanchis-Gomar F, Malkani K, Drenkova K, Zhang M, Lin X, Heguy A, Velthuis BK, Prakken NHJ, LaGerche A, Calkins H, James CA, Te Riele ASJM, Delmar M
Eur Heart J 2022 Mar 21;43(12):1251-1264. doi: 10.1093/eurheartj/ehab772. PMID: 34932122Free PMC Article
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: an electrocardiogram-based review.
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
Genetics of arrhythmogenic right ventricular cardiomyopathy.
Campuzano O, Alcalde M, Allegue C, Iglesias A, García-Pavía P, Partemi S, Oliva A, Pascali VL, Berne P, Sarquella-Brugada G, Brugada J, Brugada P, Brugada R
J Med Genet 2013 May;50(5):280-9. Epub 2013 Mar 6 doi: 10.1136/jmedgenet-2013-101523. PMID: 23468208

Diagnosis

Epicardial Ablation of Ventricular Tachycardia in Arrhythmogenic Right Ventricular Cardiomyopathy.
Assis FR, Tandri H
Card Electrophysiol Clin 2020 Sep;12(3):329-343. Epub 2020 Jul 8 doi: 10.1016/j.ccep.2020.05.005. PMID: 32771187
Collapse in the scrum.
Donnelly D, Patrick D, Weir RA
Emerg Med J 2018 Dec;35(12):764-772. Epub 2018 Mar 5 doi: 10.1136/emermed-2017-207434. PMID: 29507049
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: an electrocardiogram-based review.
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
Cardiac Imaging In Athletes.
Khan AA, Safi L, Wood M
Methodist Debakey Cardiovasc J 2016 Apr-Jun;12(2):86-92. doi: 10.14797/mdcj-12-2-86. PMID: 27486490Free PMC Article
Calcium Ions in Inherited Cardiomyopathies.
Deftereos S, Papoutsidakis N, Giannopoulos G, Angelidis C, Raisakis K, Bouras G, Davlouros P, Panagopoulou V, Goudevenos J, Cleman MW, Lekakis J
Med Chem 2016;12(2):139-50. doi: 10.2174/157340641202160209093713. PMID: 26411603

Therapy

Exercise Prescription in Arrhythmogenic Cardiomyopathy: Finding the Right Balance Between Risks and Benefits.
Dei LL, Han J, Romano S, Sciarra L, Asimaki A, Papadakis M, Sharma S, Finocchiaro G
J Am Heart Assoc 2025 Jun 17;14(12):e039125. Epub 2025 Jun 5 doi: 10.1161/JAHA.124.039125. PMID: 40470644Free PMC Article
Incidence and predictors of sudden cardiac death in arrhythmogenic right ventricular cardiomyopathy: a pooled analysis.
Agbaedeng TA, Roberts KA, Colley L, Noubiap JJ, Oxborough D
Europace 2022 Oct 13;24(10):1665-1674. doi: 10.1093/europace/euac014. PMID: 35298614Free PMC Article
Implantable cardiac defibrillator events in patients with arrhythmogenic right ventricular cardiomyopathy.
Woźniak O, Borowiec K, Konka M, Cicha-Mikołajczyk A, Przybylski A, Szumowski Ł, Hoffman P, Poślednik K, Biernacka EK
Heart 2022 Jan;108(1):22-28. Epub 2021 Mar 4 doi: 10.1136/heartjnl-2020-318415. PMID: 33674353
Electrocardiographic features of arrhythmogenic right ventricular dysplasia.
Jain R, Dalal D, Daly A, Tichnell C, James C, Evenson A, Jain R, Abraham T, Tan BY, Tandri H, Russell SD, Judge D, Calkins H
Circulation 2009 Aug 11;120(6):477-87. Epub 2009 Jul 27 doi: 10.1161/CIRCULATIONAHA.108.838821. PMID: 19635971Free PMC Article
Arrhythmogenic right ventricular dysplasia:clinical study.
Markiewicz-Łoskot G, Moric-Janiszewska E, Loskot M, Szydłowski L, Hollek A, Weglarz L
Ann Noninvasive Electrocardiol 2007 Apr;12(2):181-4. doi: 10.1111/j.1542-474X.2007.00158.x. PMID: 17593188Free PMC Article

Prognosis

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
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
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: an electrocardiogram-based review.
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
Fibroblasts and the extracellular matrix in right ventricular disease.
Frangogiannis NG
Cardiovasc Res 2017 Oct 1;113(12):1453-1464. doi: 10.1093/cvr/cvx146. PMID: 28957531Free PMC Article
Traditional vs. genetic pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Que D, Yang P, Song X, Liu L
Europace 2015 Dec;17(12):1770-6. Epub 2015 Apr 28 doi: 10.1093/europace/euv042. PMID: 25921558
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update.
Azaouagh A, Churzidse S, Konorza T, Erbel R
Clin Res Cardiol 2011 May;100(5):383-94. Epub 2011 Mar 1 doi: 10.1007/s00392-011-0295-2. PMID: 21360243

Clinical prediction guides

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
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
Collapse in the scrum.
Donnelly D, Patrick D, Weir RA
Emerg Med J 2018 Dec;35(12):764-772. Epub 2018 Mar 5 doi: 10.1136/emermed-2017-207434. PMID: 29507049
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: an electrocardiogram-based review.
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
Fibroblasts and the extracellular matrix in right ventricular disease.
Frangogiannis NG
Cardiovasc Res 2017 Oct 1;113(12):1453-1464. doi: 10.1093/cvr/cvx146. PMID: 28957531Free PMC Article
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update.
Azaouagh A, Churzidse S, Konorza T, Erbel R
Clin Res Cardiol 2011 May;100(5):383-94. Epub 2011 Mar 1 doi: 10.1007/s00392-011-0295-2. PMID: 21360243

Recent systematic reviews

Arrhythmogenic cardiomyopathy diagnosis and management: a systematic review of clinical practice guidelines and recommendations with insights for future research.
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
Myocarditis-like Episodes in Patients with Arrhythmogenic Cardiomyopathy: A Systematic Review on the So-Called Hot-Phase of the Disease.
Bariani R, Rigato I, Cipriani A, Bueno Marinas M, Celeghin R, Basso C, Corrado D, Pilichou K, Bauce B
Biomolecules 2022 Sep 19;12(9) doi: 10.3390/biom12091324. PMID: 36139162Free PMC Article
Prevalence of atrial arrhythmia in patients with arrhythmogenic right ventricular cardiomyopathy: a systematic review and meta-analysis.
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
Sudden cardiac death owing to arrhythmogenic right ventricular cardiomyopathy: Two case reports and systematic literature review.
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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