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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

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
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
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

Etiology

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
Pérez-Riera AR, Barbosa-Barros R, Shenasa M
Card Electrophysiol Clin 2017 Dec;9(4):605-629. doi: 10.1016/j.ccep.2017.07.011. PMID: 29173405
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
Corrado D, Basso C, Thiene G
Heart 2009 May;95(9):766-73. doi: 10.1136/hrt.2008.149823. PMID: 19366719

Diagnosis

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
McGregor SM, Husain AN
Arch Pathol Lab Med 2015 Sep;139(9):1181-6. doi: 10.5858/arpa.2014-0114-RS. PMID: 26317457

Therapy

Gomes AC, Lopes LR, Cruz I, Almeida AR, Miranda R, Almeida S, Brandão L, Pereira H
Circ Cardiovasc Imaging 2020 Sep;13(9):e010243. Epub 2020 Sep 2 doi: 10.1161/CIRCIMAGING.119.010243. PMID: 32873069
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
Link MS, Homoud MK, Wang PJ, Estes NA 3rd
Cardiol Rev 2001 Jan-Feb;9(1):21-30. doi: 10.1097/00045415-200101000-00006. PMID: 11174912

Prognosis

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
Wang W, James CA, Calkins H
Europace 2019 Jan 1;21(1):9-21. doi: 10.1093/europace/euy063. PMID: 29688316Free PMC Article
Sioma A, Mazurkiewicz Ł, Marczak M, Kucharczyk-Petryka E, Grzybowski J
Kardiol Pol 2017;75(9):935. doi: 10.5603/KP.2017.0173. PMID: 28895994
McGregor SM, Husain AN
Arch Pathol Lab Med 2015 Sep;139(9):1181-6. doi: 10.5858/arpa.2014-0114-RS. PMID: 26317457
John AS, Mohiaddin RH, Sheppard MN
Heart 2004 Sep;90(9):1102. doi: 10.1136/hrt.2003.030841. PMID: 15310718Free PMC Article

Clinical prediction guides

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
Bermudez-Jimenez FJ, Protonotarios A, García-Hernández S, Pérez Asensio A, Rampazzo A, Zorio E, Brodehl A, Arias MA, Macías-Ruiz R, Fernández-Armenta J, Remior Perez P, Muñoz-Esparza C, Pilichou K, Bauce B, Merino JL, Moliner-Abós C, Ochoa JP, Barriales-Villa R, Garcia-Pavia P, Lopes LR, Syrris P, Corrado D, Elliott PM, McKenna WJ, Jimenez-Jaimez J
JACC Clin Electrophysiol 2024 Jun;10(6):1178-1190. Epub 2024 May 8 doi: 10.1016/j.jacep.2024.02.031. PMID: 38727660
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
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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