U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Arrhythmogenic right ventricular dysplasia, familial, 14(ARVD14; ARVC14)

MedGen UID:
1712001
•Concept ID:
C5394505
•
Disease or Syndrome
Synonym: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 14
 
Gene (location): CDH2 (18q12.1)
 
Monarch Initiative: MONDO:0030062
OMIM®: 618920

Definition

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017). For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). [from OMIM]

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.
See: Feature record | Search on this feature
Left bundle branch block
MedGen UID:
7286
•Concept ID:
C0023211
•
Disease or Syndrome
A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG.
See: Feature record | Search on this feature
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.
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
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.
See: Feature record | Search on this feature
Right ventricular dilatation
MedGen UID:
138012
•Concept ID:
C0344893
•
Congenital Abnormality
Enlargement of the chamber of the right ventricle, which can be defined echocardiographically as a right ventricular to left ventricular ratio greater than 1:1.
See: Feature record | Search on this feature
Presyncope
MedGen UID:
148578
•Concept ID:
C0700200
•
Sign or Symptom
Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause.
See: Feature record | Search on this feature
Show allHide all

Professional guidelines

PubMed

Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis.
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
Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.
Protonotarios A, Elliott PM
Heart 2019 Jul;105(14):1117-1128. Epub 2019 Feb 21 doi: 10.1136/heartjnl-2017-311160. PMID: 30792239

Recent clinical studies

Etiology

Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA
Eur Heart J 2025 Jan 21;46(4):362-376. doi: 10.1093/eurheartj/ehae571. PMID: 39288222Free PMC Article
Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy.
Smedsrud MK, Chivulescu M, Forså MI, Castrini I, Aabel EW, Rootwelt-Norberg C, Bogsrud MP, Edvardsen T, Hasselberg NE, Früh A, Haugaa KH
Eur Heart J 2022 Dec 1;43(45):4694-4703. doi: 10.1093/eurheartj/ehac485. PMID: 36036653Free PMC Article
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.
Protonotarios A, Elliott PM
Heart 2019 Jul;105(14):1117-1128. Epub 2019 Feb 21 doi: 10.1136/heartjnl-2017-311160. PMID: 30792239
Diagnostic Criteria, Genetics, and Molecular Basis of Arrhythmogenic Cardiomyopathy.
Basso C, Pilichou K, Bauce B, Corrado D, Thiene G
Heart Fail Clin 2018 Apr;14(2):201-213. doi: 10.1016/j.hfc.2018.01.002. PMID: 29525648

Diagnosis

Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA
Eur Heart J 2025 Jan 21;46(4):362-376. doi: 10.1093/eurheartj/ehae571. PMID: 39288222Free PMC Article
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory.
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Right Ventricular Functional Abnormalities in Arrhythmogenic Cardiomyopathy: Association With Life-Threatening Ventricular Arrhythmias.
Kirkels FP, Lie ØH, Cramer MJ, Chivulescu M, Rootwelt-Norberg C, Asselbergs FW, Teske AJ, Haugaa KH
JACC Cardiovasc Imaging 2021 May;14(5):900-910. Epub 2021 Feb 10 doi: 10.1016/j.jcmg.2020.12.028. PMID: 33582062
Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis.
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
Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.
Protonotarios A, Elliott PM
Heart 2019 Jul;105(14):1117-1128. Epub 2019 Feb 21 doi: 10.1136/heartjnl-2017-311160. PMID: 30792239

Therapy

Subcutaneous and Transvenous Defibrillators in Arrhythmogenic Right Ventricular Cardiomyopathy: A Comparison of Clinical and Quality-of-Life Outcomes.
Wang W, Gasperetti A, Sears SF, Tichnell C, Murray B, Tandri H, James CA, Calkins H
JACC Clin Electrophysiol 2023 Mar;9(3):394-402. Epub 2022 Oct 31 doi: 10.1016/j.jacep.2022.09.020. PMID: 36328892
Deadly proposal: a case of catecholaminergic polymorphic ventricular tachycardia.
Heiner JD, Bullard-Berent JH, Inbar S
Pediatr Emerg Care 2011 Nov;27(11):1065-8. doi: 10.1097/PEC.0b013e3182360606. PMID: 22068070
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
Bauce B, Basso C, Rampazzo A, Beffagna G, Daliento L, Frigo G, Malacrida S, Settimo L, Danieli G, Thiene G, Nava A
Eur Heart J 2005 Aug;26(16):1666-75. Epub 2005 Jun 7 doi: 10.1093/eurheartj/ehi341. PMID: 15941723
Histologic findings in patients with clinical and instrumental diagnosis of sporadic arrhythmogenic right ventricular dysplasia.
Chimenti C, Pieroni M, Maseri A, Frustaci A
J Am Coll Cardiol 2004 Jun 16;43(12):2305-13. doi: 10.1016/j.jacc.2003.12.056. PMID: 15193698
Value of intracardiac ultrasound in the diagnosis of arrhythmogenic right ventricular dysplasia-cardiomyopathy.
Peters S, Brattström A, Götting B, Trümmel M
Int J Cardiol 2002 May;83(2):111-7. doi: 10.1016/s0167-5273(02)00005-0. PMID: 12007682

Prognosis

Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA
Eur Heart J 2025 Jan 21;46(4):362-376. doi: 10.1093/eurheartj/ehae571. PMID: 39288222Free PMC Article
Right Ventricular Functional Abnormalities in Arrhythmogenic Cardiomyopathy: Association With Life-Threatening Ventricular Arrhythmias.
Kirkels FP, Lie ØH, Cramer MJ, Chivulescu M, Rootwelt-Norberg C, Asselbergs FW, Teske AJ, Haugaa KH
JACC Cardiovasc Imaging 2021 May;14(5):900-910. Epub 2021 Feb 10 doi: 10.1016/j.jcmg.2020.12.028. PMID: 33582062
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
James CA, Syrris P, van Tintelen JP, Calkins H
Eur Heart J 2020 Apr 7;41(14):1393-1400. doi: 10.1093/eurheartj/ehaa141. PMID: 32191298
Arrhythmogenic Right Ventricular Cardiomyopathy: A Review of Living and Deceased Probands.
Blusztein DI, Zentner D, Thompson T, Jayadeva P, Liang D, Wang R, Winship I, James PA, Trainer AH, Kalman JM, Vohra J
Heart Lung Circ 2019 Jul;28(7):1034-1041. Epub 2018 Aug 11 doi: 10.1016/j.hlc.2018.07.017. PMID: 30126789
Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation.
Bhonsale A, Te Riele ASJM, Sawant AC, Groeneweg JA, James CA, Murray B, Tichnell C, Mast TP, van der Pols MJ, Cramer MJM, Dooijes D, van der Heijden JF, Tandri H, van Tintelen JP, Judge DP, Hauer RNW, Calkins H
Heart Rhythm 2017 Jun;14(6):883-891. Epub 2017 Feb 12 doi: 10.1016/j.hrthm.2017.02.013. PMID: 28215569

Clinical prediction guides

Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Gasperetti A, Carrick RT, Protonotarios A, Murray B, Laredo M, van der Schaaf I, Lekanne RH, Syrris P, Cannie D, Tichnell C, Cappelletto C, Gigli M, Medo K, Saguner AM, Duru F, Gilotra NA, Zimmerman S, Hylind R, Abrams DJ, Lakdawala NK, Cadrin-Tourigny J, Targetti M, Olivotto I, Graziosi M, Cox M, Biagini E, Charron P, Casella M, Tondo C, Yazdani M, Ware JS, Prasad SK, Calò L, Smith ED, Helms AS, Hespe S, Ingles J, Tandri H, Ader F, Peretto G, Peters S, Horton A, Yao J, Dittmann S, Schulze-Bahr E, Qureshi M, Young K, Carruth ED, Haggerty C, Parikh VN, Taylor M, Mestroni L, Wilde A, Sinagra G, Merlo M, Gandjbakhch E, van Tintelen JP, Te Riele ASJM, Elliott PM, Calkins H, James CA
Eur Heart J 2025 Jan 21;46(4):362-376. doi: 10.1093/eurheartj/ehae571. PMID: 39288222Free PMC Article
Catheter Ablation for Ventricular Tachycardia in Patients With Desmoplakin Cardiomyopathy.
Gasperetti A, Peretto G, Muller SA, Hasegawa K, Compagnucci P, Casella M, Murray B, Tichnell C, Carrick RT, Cadrin-Tourigny J, Schiavone M, James C, Amin AS, Saguner AM, Dello Russo A, Tondo C, Stevenson W, Della Bella P, Calkins H, Tandri H
JACC Clin Electrophysiol 2024 Mar;10(3):487-498. Epub 2024 Jan 10 doi: 10.1016/j.jacep.2023.11.017. PMID: 38206263
Right Ventricular Functional Abnormalities in Arrhythmogenic Cardiomyopathy: Association With Life-Threatening Ventricular Arrhythmias.
Kirkels FP, Lie ØH, Cramer MJ, Chivulescu M, Rootwelt-Norberg C, Asselbergs FW, Teske AJ, Haugaa KH
JACC Cardiovasc Imaging 2021 May;14(5):900-910. Epub 2021 Feb 10 doi: 10.1016/j.jcmg.2020.12.028. PMID: 33582062
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
James CA, Syrris P, van Tintelen JP, Calkins H
Eur Heart J 2020 Apr 7;41(14):1393-1400. doi: 10.1093/eurheartj/ehaa141. PMID: 32191298
The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24.
Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G, Scognamiglio R, Corrado D, Thiene G
Hum Mol Genet 1994 Jun;3(6):959-62. doi: 10.1093/hmg/3.6.959. PMID: 7951245

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...