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Arrhythmogenic right ventricular dysplasia 8(ARVD8)

MedGen UID:
336069
Concept ID:
C1843896
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular cardiomyopathy, type 8; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8; ARVD8
 
Gene (location): DSP (6p24.3)
 
Monarch Initiative: MONDO:0011831
OMIM®: 607450

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 OMIM
ARVD8 is characterized by progressive degeneration of the right ventricular myocardium. Patients may experience life-threatening cardiac arrhythmias and show depolarization, conduction, and repolarization defects on electrocardiography (Rampazzo et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of ARVD, see 107970.  http://www.omim.org/entry/607450
From MedlinePlus Genetics
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.

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.  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).
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
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.
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.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Wanert C, El Louali F, Al Dybiat S, Nguyen K, Zaffran S, Ovaert C
Arch Cardiovasc Dis 2023 Jun-Jul;116(6-7):309-315. Epub 2023 May 16 doi: 10.1016/j.acvd.2023.04.008. PMID: 37246080
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
Vatta M, Spoonamore KG
Trends Cardiovasc Med 2015 Nov;25(8):738-48. Epub 2015 Mar 12 doi: 10.1016/j.tcm.2015.03.007. PMID: 25864170

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
Szentandrássy N, Magyar ZÉ, Hevesi J, Bányász T, Nánási PP, Almássy J
Int J Mol Sci 2022 Apr 18;23(8) doi: 10.3390/ijms23084435. PMID: 35457253Free PMC Article
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
Anderson EL
Am Fam Physician 2006 Apr 15;73(8):1391-8. PMID: 16669561

Diagnosis

Tini G, Graziosi M, Musumeci B, Targetti M, Russo D, Parisi V, Argirò A, Ditaranto R, Leone O, Autore C, Olivotto I, Biagini E
Eur J Prev Cardiol 2023 Sep 20;30(13):1315-1322. doi: 10.1093/eurjpc/zwad058. PMID: 36848329
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
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS
Circulation 2020 Jun 9;141(23):1872-1884. Epub 2020 May 6 doi: 10.1161/CIRCULATIONAHA.119.044934. PMID: 32372669Free PMC Article
Anderson EL
Am Fam Physician 2006 Apr 15;73(8):1391-8. PMID: 16669561

Therapy

Molitor N, Hofer D, Çimen T, Gasperetti A, Akdis D, Costa S, Jenni R, Breitenstein A, Wolber T, Winnik S, Fokstuen S, Fu G, Medeiros-Domingo A, Ruschitzka F, Brunckhorst C, Duru F, Saguner AM
Heart 2023 Jul 12;109(15):1146-1152. doi: 10.1136/heartjnl-2022-321739. PMID: 36889907
Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, Han HC
JACC Clin Electrophysiol 2022 Apr;8(4):533-553. doi: 10.1016/j.jacep.2021.12.002. PMID: 35450611
Scheel PJ 3rd, Florido R, Hsu S, Murray B, Tichnell C, James CA, Agafonova J, Tandri H, Judge DP, Russell SD, Tedford RJ, Calkins H, Gilotra NA
J Am Heart Assoc 2020 Feb 4;9(3):e013695. Epub 2020 Feb 3 doi: 10.1161/JAHA.119.013695. PMID: 32009524Free 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
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

Tini G, Graziosi M, Musumeci B, Targetti M, Russo D, Parisi V, Argirò A, Ditaranto R, Leone O, Autore C, Olivotto I, Biagini E
Eur J Prev Cardiol 2023 Sep 20;30(13):1315-1322. doi: 10.1093/eurjpc/zwad058. PMID: 36848329
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
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
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
Anderson EL
Am Fam Physician 2006 Apr 15;73(8):1391-8. PMID: 16669561

Clinical prediction guides

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
Cadrin-Tourigny J, Bosman LP, Wang W, Tadros R, Bhonsale A, Bourfiss M, 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, van Tintelen JP, Platonov PG, Duru F, Haugaa KH, Khairy P, Hauer RNW, Calkins H, Te Riele ASJM, James CA
Circ Arrhythm Electrophysiol 2021 Jan;14(1):e008509. Epub 2020 Dec 9 doi: 10.1161/CIRCEP.120.008509. PMID: 33296238Free PMC Article
Te Riele ASJM, Tandri H, Sanborn DM, Bluemke DA
JACC Cardiovasc Imaging 2015 May;8(5):597-611. doi: 10.1016/j.jcmg.2015.02.007. PMID: 25937197Free PMC Article
Sallam K, Kodo K, Wu JC
Circ J 2014;78(4):784-94. Epub 2014 Mar 17 doi: 10.1253/circj.cj-14-0182. PMID: 24632794Free PMC Article

Recent systematic reviews

Zoppo F, Gagno G, Perazza L, Cocciolo A, Mugnai G, Vaccari D, Calzolari V
Pacing Clin Electrophysiol 2021 Aug;44(8):1432-1448. Epub 2021 Jun 23 doi: 10.1111/pace.14288. PMID: 34096635
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
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
Nasir K, Rutberg J, Tandri H, Berger R, Tomaselli G, Calkins H
Ann Noninvasive Electrocardiol 2003 Apr;8(2):112-20. doi: 10.1046/j.1542-474x.2003.08204.x. PMID: 12848791Free PMC Article

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