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Arrhythmogenic right ventricular dysplasia 9(ARVD9)

MedGen UID:
373205
Concept ID:
C1836906
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular cardiomyopathy, type 9; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 9; ARVD9
 
Gene (location): PKP2 (12p11.21)
 
Monarch Initiative: MONDO:0012180
OMIM®: 609040

Authors:
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).
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 cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
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.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
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).
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.
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.
Fibrofatty replacement of right ventricular myocardium
MedGen UID:
369873
Concept ID:
C1968863
Pathologic Function
Replacement of the myocardium of the right ventricular free wall by fat and fibrous tissue.
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.
Dilatation of the ventricular cavity
MedGen UID:
1393082
Concept ID:
C4476545
Anatomical Abnormality
A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole.
Epsilon wave
MedGen UID:
1815063
Concept ID:
C5706157
Finding
An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.
Dyspnea
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223

Recent clinical studies

Etiology

de la Guía-Galipienso F, Ugedo-Alzaga K, Grazioli G, Quesada-Ocete FJ, Feliu-Rey E, Perez MV, Quesada-Dorador A, Sanchis-Gomar F
Curr Probl Cardiol 2023 Sep;48(9):101799. Epub 2023 May 11 doi: 10.1016/j.cpcardiol.2023.101799. PMID: 37172878
Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP, Tayal U, Verdonschot J, Meena D, Owen R, de Marvao A, Iacob A, Yazdani M, Hammersley DJ, Jones RE, Wage R, Buchan R, Vivian F, Hafouda Y, Noseda M, Gregson J, Mittal T, Wong J, Robertus JL, Baksi AJ, Vassiliou V, Tzoulaki I, Pantazis A, Cleland JGF, Barton PJR, Cook SA, Pennell DJ, Garcia-Pavia P, Cooper LT Jr, Heymans S, Ware JS, Prasad SK
Circulation 2022 Oct 11;146(15):1123-1134. Epub 2022 Sep 26 doi: 10.1161/CIRCULATIONAHA.121.058457. PMID: 36154167Free PMC Article
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Wang W, James CA, Calkins H
Europace 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063. PMID: 29688316Free PMC Article
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Diagnosis

de la Guía-Galipienso F, Ugedo-Alzaga K, Grazioli G, Quesada-Ocete FJ, Feliu-Rey E, Perez MV, Quesada-Dorador A, Sanchis-Gomar F
Curr Probl Cardiol 2023 Sep;48(9):101799. Epub 2023 May 11 doi: 10.1016/j.cpcardiol.2023.101799. PMID: 37172878
Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP, Tayal U, Verdonschot J, Meena D, Owen R, de Marvao A, Iacob A, Yazdani M, Hammersley DJ, Jones RE, Wage R, Buchan R, Vivian F, Hafouda Y, Noseda M, Gregson J, Mittal T, Wong J, Robertus JL, Baksi AJ, Vassiliou V, Tzoulaki I, Pantazis A, Cleland JGF, Barton PJR, Cook SA, Pennell DJ, Garcia-Pavia P, Cooper LT Jr, Heymans S, Ware JS, Prasad SK
Circulation 2022 Oct 11;146(15):1123-1134. Epub 2022 Sep 26 doi: 10.1161/CIRCULATIONAHA.121.058457. PMID: 36154167Free PMC Article
Stava TT, Leren TP, Bogsrud MP
Eur J Prev Cardiol 2022 Oct 18;29(13):1789-1799. doi: 10.1093/eurjpc/zwac102. PMID: 35653365
Corrado D, Basso C
Heart 2022 May;108(9):733-743. Epub 2021 Jul 13 doi: 10.1136/heartjnl-2020-316944. PMID: 34257076Free PMC Article
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223

Therapy

Christensen AH, Platonov PG, Svensson A, Jensen HK, Rootwelt-Norberg C, Dahlberg P, Madsen T, Frederiksen TC, Heliö T, Haugaa KH, Bundgaard H, Svendsen JH
Europace 2022 Feb 2;24(2):306-312. doi: 10.1093/europace/euab112. PMID: 34279601
Wang W, James CA, Calkins H
Europace 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063. PMID: 29688316Free 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
Romero J, Grushko M, Briceño DF, Natale A, Di Biase L
Curr Cardiol Rep 2017 Sep;19(9):82. doi: 10.1007/s11886-017-0893-3. PMID: 28779285
Buja G, Estes NA 3rd, Wichter T, Corrado D, Marcus F, Thiene G
Prog Cardiovasc Dis 2008 Jan-Feb;50(4):282-93. doi: 10.1016/j.pcad.2007.10.004. PMID: 18156007Free PMC Article

Prognosis

de la Guía-Galipienso F, Ugedo-Alzaga K, Grazioli G, Quesada-Ocete FJ, Feliu-Rey E, Perez MV, Quesada-Dorador A, Sanchis-Gomar F
Curr Probl Cardiol 2023 Sep;48(9):101799. Epub 2023 May 11 doi: 10.1016/j.cpcardiol.2023.101799. PMID: 37172878
Cadrin-Tourigny J, Bosman LP, Nozza A, Wang W, Tadros R, Bhonsale A, Bourfiss M, Fortier A, Lie ØH, Saguner AM, Svensson A, Andorin A, Tichnell C, Murray B, Zeppenfeld K, van den Berg MP, Asselbergs FW, Wilde AAM, Krahn AD, Talajic M, Rivard L, Chelko S, Zimmerman SL, Kamel IR, Crosson JE, Judge DP, Yap SC, van der Heijden JF, Tandri H, Jongbloed JDH, Guertin MC, van Tintelen JP, Platonov PG, Duru F, Haugaa KH, Khairy P, Hauer RNW, Calkins H, Te Riele ASJM, James CA
Eur Heart J 2022 Aug 21;43(32):e1-e9. doi: 10.1093/eurheartj/ehac180. PMID: 35441664Free PMC Article
Liang E, Wu L, Fan S, Li X, Hu F, Zheng L, Fan X, Chen G, Ding L, Yao Y
Am J Cardiol 2019 May 15;123(10):1690-1695. Epub 2019 Feb 23 doi: 10.1016/j.amjcard.2019.02.032. PMID: 30885416
Wang W, James CA, Calkins H
Europace 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063. PMID: 29688316Free PMC Article
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

Monaco C, Galli A, Pannone L, Bisignani A, Miraglia V, Gauthey A, Al Housari M, Mojica J, Del Monte A, Lipartiti F, Rizzi S, Mouram S, Calburean PA, Ramark R, Pappaert G, Eltsov I, Bala G, Sorgente A, Overeinder I, Almorad A, Stroker E, Sieira J, Brugada P, Chierchia GB, La Meir M, de Asmundis C
Am J Cardiol 2022 Oct 15;181:45-54. Epub 2022 Aug 13 doi: 10.1016/j.amjcard.2022.07.011. PMID: 35973836
Cadrin-Tourigny J, Bosman LP, Nozza A, Wang W, Tadros R, Bhonsale A, Bourfiss M, Fortier A, Lie ØH, Saguner AM, Svensson A, Andorin A, Tichnell C, Murray B, Zeppenfeld K, van den Berg MP, Asselbergs FW, Wilde AAM, Krahn AD, Talajic M, Rivard L, Chelko S, Zimmerman SL, Kamel IR, Crosson JE, Judge DP, Yap SC, van der Heijden JF, Tandri H, Jongbloed JDH, Guertin MC, van Tintelen JP, Platonov PG, Duru F, Haugaa KH, Khairy P, Hauer RNW, Calkins H, Te Riele ASJM, James CA
Eur Heart J 2022 Aug 21;43(32):e1-e9. doi: 10.1093/eurheartj/ehac180. PMID: 35441664Free PMC Article
Paul M, Schulze-Bahr E
Herz 2020 May;45(3):243-251. doi: 10.1007/s00059-020-04907-1. PMID: 32170341
Wang W, James CA, Calkins H
Europace 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063. PMID: 29688316Free PMC Article
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Recent systematic reviews

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
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
Vaidya VR, Abudan AA, Vasudevan K, Shantha G, Cooper LT, Kapa S, Noseworthy PA, Cha YM, Asirvatham SJ, Deshmukh AJ
J Interv Card Electrophysiol 2018 Oct;53(1):63-71. Epub 2018 Jul 12 doi: 10.1007/s10840-018-0410-7. PMID: 30003460
Femia G, Sy RW, Puranik R
Int J Cardiol 2017 Aug 15;241:311-317. Epub 2017 Mar 19 doi: 10.1016/j.ijcard.2017.03.069. PMID: 28342631
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

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