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Arrhythmogenic right ventricular dysplasia 2(ARVD2)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular dysplasia, familial, 2; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 2; ARVD2
Monarch Initiative: MONDO:0010975
OMIM®: 180902; 600996

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).
Arrhythmogenic right ventricular dysplasia-2 (ARVD2) is characterized by exercise-induced polymorphic ventricular arrhythmias, resulting in syncope or even sudden death in the second or third decades of life. Heart size and standard ECG are normal, but postmortem examinations have shown localized fibrofatty replacement at the apical anterior wall of the right ventricle (Rampazzo et al., 1995; Bauce et al., 2000). For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970).  http://www.omim.org/entry/600996
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
Sudden death
MedGen UID:
Concept ID:
Pathologic Function
Rapid and unexpected death.
Right ventricular cardiomyopathy
MedGen UID:
Concept ID:
Disease or Syndrome
Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease.
Effort-induced polymorphic ventricular tachycardia
MedGen UID:
Concept ID:
Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration.
Dilatation of the ventricular cavity
MedGen UID:
Concept ID:
Anatomical Abnormality
A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines


Protonotarios A, Bariani R, Cappelletto C, Pavlou M, García-García A, Cipriani A, Protonotarios I, Rivas A, Wittenberg R, Graziosi M, Xylouri Z, Larrañaga-Moreira JM, de Luca A, Celeghin R, Pilichou K, Bakalakos A, Lopes LR, Savvatis K, Stolfo D, Dal Ferro M, Merlo M, Basso C, Freire JL, Rodriguez-Palomares JF, Kubo T, Ripoll-Vera T, Barriales-Villa R, Antoniades L, Mogensen J, Garcia-Pavia P, Wahbi K, Biagini E, Anastasakis A, Tsatsopoulou A, Zorio E, Gimeno JR, Garcia-Pinilla JM, Syrris P, Sinagra G, Bauce B, Elliott PM
Eur Heart J 2022 Aug 21;43(32):3053-3067. doi: 10.1093/eurheartj/ehac235. PMID: 35766183Free PMC Article
Cipriani A, Perazzolo Marra M, Bariani R, Mattesi G, Vio R, Bettella N, DE Lazzari M, Motta R, Bauce B, Zorzi A, Corrado D
Minerva Med 2021 Apr;112(2):269-280. Epub 2020 Jul 22 doi: 10.23736/S0026-4806.20.06782-8. PMID: 32700864
Corrado D, van Tintelen PJ, McKenna WJ, Hauer RNW, Anastastakis A, Asimaki A, Basso C, Bauce B, Brunckhorst C, Bucciarelli-Ducci C, Duru F, Elliott P, Hamilton RM, Haugaa KH, James CA, Judge D, Link MS, Marchlinski FE, Mazzanti A, Mestroni L, Pantazis A, Pelliccia A, Marra MP, Pilichou K, Platonov PGA, Protonotarios A, Rampazzo A, Saffitz JE, Saguner AM, Schmied C, Sharma S, Tandri H, Te Riele ASJM, Thiene G, Tsatsopoulou A, Zareba W, Zorzi A, Wichter T, Marcus FI, Calkins H; International Experts
Eur Heart J 2020 Apr 7;41(14):1414-1429. doi: 10.1093/eurheartj/ehz669. PMID: 31637441Free PMC Article

Recent clinical studies


Fabre A, Sheppard MN
Heart 2006 Mar;92(3):316-20. Epub 2005 May 27 doi: 10.1136/hrt.2004.045518. PMID: 15923280Free PMC Article

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