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Arrhythmogenic right ventricular dysplasia 13(ARVC13; ARVD13)

MedGen UID:
816468
Concept ID:
C3810138
Disease or Syndrome
Synonyms: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 13; Arrhythmogenic right ventricular dysplasia, familial, 13
 
Gene (location): CTNNA3 (10q21.3)
 
Monarch Initiative: MONDO:0000908
OMIM®: 615616

Definition

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-13 (ARVD13) is characterized by progressive fibrofatty myocardial replacement, primarily of the right ventricle. The main clinical features are structural and functional abnormalities of the ventricles, electrocardiographic depolarization/repolarization changes, reentrant arrhythmias, and sudden death (summary by van Hengel et al., 2013). [from OMIM]

Additional description

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
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.
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).
First degree atrioventricular block
MedGen UID:
43215
Concept ID:
C0085614
Disease or Syndrome
Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles.
Right ventricular dilatation
MedGen UID:
138012
Concept ID:
C0344893
Congenital Abnormality
Enlargement of the chamber of the right ventricle.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVArrhythmogenic right ventricular dysplasia 13

Professional guidelines

PubMed

Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Christensen AH, Platonov PG, Jensen HK, Chivulescu M, Svensson A, Dahlberg P, Madsen T, Frederiksen TC, Heliö T, Lie ØH, Haugaa KH, Hastrup Svendsen J, Bundgaard H
J Med Genet 2022 Sep;59(9):858-864. Epub 2021 Aug 16 doi: 10.1136/jmedgenet-2021-107911. PMID: 34400560
Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D, Duru F, Green KJ, Judge DP, Kelsell D, Lambiase PD, McKenna WJ, Pilichou K, Protonotarios A, Saffitz JE, Syrris P, Tandri H, Te Riele A, Thiene G, Tsatsopoulou A, van Tintelen JP
Eur J Heart Fail 2019 Aug;21(8):955-964. Epub 2019 Jun 18 doi: 10.1002/ejhf.1534. PMID: 31210398Free PMC Article

Recent clinical studies

Etiology

Muller SA, Gasperetti A, Bosman LP, Schmidt AF, Baas AF, Amin AS, Houweling AC, Wilde AAM, Compagnucci P, Targetti M, Casella M, Calò L, Tondo C, van der Harst P, Asselbergs FW, van Tintelen JP, Oerlemans MIFJ, Te Riele ASJM
J Am Coll Cardiol 2023 Jul 18;82(3):214-225. Epub 2023 May 18 doi: 10.1016/j.jacc.2023.05.005. PMID: 37210036
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Ye JZ, Delmar M, Lundby A, Olesen MS
Clin Genet 2019 Dec;96(6):506-514. Epub 2019 Aug 19 doi: 10.1111/cge.13621. PMID: 31402444
Chivulescu M, Haugaa K, Lie ØH, Edvardsen T, Ginghină C, Popescu BA, Jurcut R
Scand Cardiovasc J 2018 Feb;52(1):13-19. Epub 2017 Dec 19 doi: 10.1080/14017431.2017.1416158. PMID: 29254378
Müssigbrodt A, Bertagnolli L, Efimova E, Kosiuk J, Dinov B, Bode K, Kircher S, Dagres N, Döring M, Richter S, Sommer P, Husser D, Bollmann A, Hindricks G, Arya A
Herzschrittmacherther Elektrophysiol 2017 Jun;28(2):219-224. Epub 2017 May 23 doi: 10.1007/s00399-017-0508-0. PMID: 28536891

Diagnosis

Muller SA, Gasperetti A, Bosman LP, Schmidt AF, Baas AF, Amin AS, Houweling AC, Wilde AAM, Compagnucci P, Targetti M, Casella M, Calò L, Tondo C, van der Harst P, Asselbergs FW, van Tintelen JP, Oerlemans MIFJ, Te Riele ASJM
J Am Coll Cardiol 2023 Jul 18;82(3):214-225. Epub 2023 May 18 doi: 10.1016/j.jacc.2023.05.005. PMID: 37210036
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Zorzi A, Cipriani A, Mattesi G, Vio R, Bettella N, Corrado D
J Cardiovasc Transl Res 2020 Jun;13(3):274-283. Epub 2020 Apr 16 doi: 10.1007/s12265-020-09995-2. PMID: 32300932
Ye JZ, Delmar M, Lundby A, Olesen MS
Clin Genet 2019 Dec;96(6):506-514. Epub 2019 Aug 19 doi: 10.1111/cge.13621. PMID: 31402444
Müssigbrodt A, Bertagnolli L, Efimova E, Kosiuk J, Dinov B, Bode K, Kircher S, Dagres N, Döring M, Richter S, Sommer P, Husser D, Bollmann A, Hindricks G, Arya A
Herzschrittmacherther Elektrophysiol 2017 Jun;28(2):219-224. Epub 2017 May 23 doi: 10.1007/s00399-017-0508-0. PMID: 28536891

Therapy

Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003
Sharma AK, Singh S, Bhat M, Gill K, Zaid M, Kumar S, Shakya A, Tantray J, Jose D, Gupta R, Yangzom T, Sharma RK, Sahu SK, Rathore G, Chandolia P, Singh M, Mishra A, Raj S, Gupta A, Agarwal M, Kifayat S, Gupta A, Gupta P, Vashist A, Vaibhav P, Kathuria N, Yadav V, Singh RP, Garg A
Sci Rep 2023 Sep 29;13(1):16420. doi: 10.1038/s41598-023-41942-4. PMID: 37775650Free PMC Article
Elliott PM, Anastasakis A, Asimaki A, Basso C, Bauce B, Brooke MA, Calkins H, Corrado D, Duru F, Green KJ, Judge DP, Kelsell D, Lambiase PD, McKenna WJ, Pilichou K, Protonotarios A, Saffitz JE, Syrris P, Tandri H, Te Riele A, Thiene G, Tsatsopoulou A, van Tintelen JP
Eur J Heart Fail 2019 Aug;21(8):955-964. Epub 2019 Jun 18 doi: 10.1002/ejhf.1534. PMID: 31210398Free PMC Article
Gandjbakhch E, Varlet E, Duthoit G, Fressart V, Charron P, Himbert C, Maupain C, Bordet C, Hidden-Lucet F, Nizard J
Int J Cardiol 2018 May 1;258:172-178. doi: 10.1016/j.ijcard.2017.11.067. PMID: 29544927
Cadrin-Tourigny J, Tadros R, Talajic M, Rivard L, Abadir S, Khairy P
Expert Rev Cardiovasc Ther 2015 Jun;13(6):653-64. Epub 2015 May 6 doi: 10.1586/14779072.2015.1043891. PMID: 25947965

Prognosis

Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003
Muller SA, Gasperetti A, Bosman LP, Schmidt AF, Baas AF, Amin AS, Houweling AC, Wilde AAM, Compagnucci P, Targetti M, Casella M, Calò L, Tondo C, van der Harst P, Asselbergs FW, van Tintelen JP, Oerlemans MIFJ, Te Riele ASJM
J Am Coll Cardiol 2023 Jul 18;82(3):214-225. Epub 2023 May 18 doi: 10.1016/j.jacc.2023.05.005. PMID: 37210036
Roudijk RW, Verheul L, Bosman LP, Bourfiss M, Breur JMPJ, Slieker MG, Blank AC, Dooijes D, van der Heijden JF, van den Heuvel F, Clur SA, Udink Ten Cate FEA, van den Berg MP, Wilde AAM, Asselbergs FW, Peter van Tintelen J, Te Riele ASJM
JACC Clin Electrophysiol 2022 Mar;8(3):306-318. Epub 2021 Dec 22 doi: 10.1016/j.jacep.2021.09.001. PMID: 35331425
Zorzi A, Cipriani A, Mattesi G, Vio R, Bettella N, Corrado D
J Cardiovasc Transl Res 2020 Jun;13(3):274-283. Epub 2020 Apr 16 doi: 10.1007/s12265-020-09995-2. PMID: 32300932
Müssigbrodt A, Bertagnolli L, Efimova E, Kosiuk J, Dinov B, Bode K, Kircher S, Dagres N, Döring M, Richter S, Sommer P, Husser D, Bollmann A, Hindricks G, Arya A
Herzschrittmacherther Elektrophysiol 2017 Jun;28(2):219-224. Epub 2017 May 23 doi: 10.1007/s00399-017-0508-0. PMID: 28536891

Clinical prediction guides

Carrick RT, De Marco C, Gasperetti A, Bosman LP, Gourraud JB, Trancuccio A, Mazzanti A, Murray B, Pendleton C, Tichnell C, Tandri H, Zeppenfeld K, Wilde AAM, Davies B, Seifer C, Roberts JD, Healey JS, MacIntyre C, Alqarawi W, Tadros R, Cutler MJ, Targetti M, Calò L, Vitali F, Bertini M, Compagnucci P, Casella M, Dello Russo A, Cappelletto C, De Luca A, Stolfo D, Duru F, Jensen HK, Svensson A, Dahlberg P, Hasselberg NE, Di Marco A, Jordà P, Arbelo E, Moreno Weidmann Z, Borowiec K, Delinière A, Biernacka EK, van Tintelen JP, Platonov PG, Olivotto I, Saguner AM, Haugaa KH, Cox M, Tondo C, Merlo M, Krahn AD, Te Riele ASJM, Wu KC, Calkins H, James CA, Cadrin-Tourigny J
Eur Heart J 2024 Feb 16;45(7):538-548. doi: 10.1093/eurheartj/ehad799. PMID: 38195003
Muller SA, Gasperetti A, Bosman LP, Schmidt AF, Baas AF, Amin AS, Houweling AC, Wilde AAM, Compagnucci P, Targetti M, Casella M, Calò L, Tondo C, van der Harst P, Asselbergs FW, van Tintelen JP, Oerlemans MIFJ, Te Riele ASJM
J Am Coll Cardiol 2023 Jul 18;82(3):214-225. Epub 2023 May 18 doi: 10.1016/j.jacc.2023.05.005. PMID: 37210036
Carrick RT, Te Riele ASJM, Gasperetti A, Bosman L, Muller SA, Pendleton C, Tichnell C, Murray B, Yap SC, van den Berg MP, Wilde A, Zeppenfeld K, Hays A, Zimmerman SL, Tandri H, Cadrin-Tourigny J, van Tintelen P, Calkins H, James CA, Wu KC
Circ Arrhythm Electrophysiol 2022 Nov;15(11):e011207. Epub 2022 Oct 31 doi: 10.1161/CIRCEP.122.011207. PMID: 36315818Free PMC Article
Roudijk RW, Verheul L, Bosman LP, Bourfiss M, Breur JMPJ, Slieker MG, Blank AC, Dooijes D, van der Heijden JF, van den Heuvel F, Clur SA, Udink Ten Cate FEA, van den Berg MP, Wilde AAM, Asselbergs FW, Peter van Tintelen J, Te Riele ASJM
JACC Clin Electrophysiol 2022 Mar;8(3):306-318. Epub 2021 Dec 22 doi: 10.1016/j.jacep.2021.09.001. PMID: 35331425
Gandjbakhch E, Varlet E, Duthoit G, Fressart V, Charron P, Himbert C, Maupain C, Bordet C, Hidden-Lucet F, Nizard J
Int J Cardiol 2018 May 1;258:172-178. doi: 10.1016/j.ijcard.2017.11.067. PMID: 29544927

Recent systematic reviews

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
Romero J, Patel K, Briceno D, Alviz I, Gabr M, Diaz JC, Trivedi C, Mohanty S, Della Rocca D, Al-Ahmad A, Yang R, Rios S, Cerna L, Du X, Tarantino N, Zhang XD, Lakkireddy D, Natale A, Di Biase L
J Cardiovasc Electrophysiol 2020 Aug;31(8):2022-2031. Epub 2020 Jun 18 doi: 10.1111/jce.14593. PMID: 32478430
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
Xu Z, Zhu W, Wang C, Huang L, Zhou Q, Hu J, Cheng X, Hong K
Sci Rep 2017 Jan 25;7:41387. doi: 10.1038/srep41387. PMID: 28120905Free PMC Article
Olde Nordkamp LR, Postema PG, Knops RE, van Dijk N, Limpens J, Wilde AA, de Groot JR
Heart Rhythm 2016 Feb;13(2):443-54. Epub 2015 Sep 15 doi: 10.1016/j.hrthm.2015.09.010. PMID: 26385533

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