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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.
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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
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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
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

Recent clinical studies

Etiology

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
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
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
Pathology and pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
Thiene G, Basso C, Calabrese F, Angelini A, Valente M
Herz 2000 May;25(3):210-5. doi: 10.1007/s000590050008. PMID: 10904840

Diagnosis

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
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

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

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
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B, Russell SD, Abraham T, Tandri H, Judge DP, Calkins H
Circ Arrhythm Electrophysiol 2013 Jun;6(3):569-78. Epub 2013 May 13 doi: 10.1161/CIRCEP.113.000233. PMID: 23671136

Clinical prediction guides

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
Diagnosing arrhythmogenic right ventricular cardiomyopathy by 2010 Task Force Criteria: clinical performance and simplified practical implementation.
Bosman LP, Cadrin-Tourigny J, Bourfiss M, Aliyari Ghasabeh M, Sharma A, Tichnell C, Roudijk RW, Murray B, Tandri H, Khairy P, Kamel IR, Zimmerman SL, Reitsma JB, Asselbergs FW, van Tintelen JP, van der Heijden JF, Hauer RNW, Calkins H, James CA, Te Riele ASJM
Europace 2020 May 1;22(5):787-796. doi: 10.1093/europace/euaa039. PMID: 32294163Free PMC Article
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
Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers.
Bhonsale A, James CA, Tichnell C, Murray B, Madhavan S, Philips B, Russell SD, Abraham T, Tandri H, Judge DP, Calkins H
Circ Arrhythm Electrophysiol 2013 Jun;6(3):569-78. Epub 2013 May 13 doi: 10.1161/CIRCEP.113.000233. PMID: 23671136

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