Format

Send to:

Choose Destination

Arrhythmogenic right ventricular dysplasia, familial, 3(ARVD3)

MedGen UID:
356108
Concept ID:
C1865882
Disease or Syndrome
Synonyms: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 3; Arrhythmogenic right ventricular dysplasia, type 3; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 3; ARVD3
Modes of inheritance:
Heterogeneous
MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
Source: HPO
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 602086

Definition

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 GTR]

Additional descriptions

From GeneReviews
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).  https://www.ncbi.nlm.nih.gov/books/NBK1131
From GHR
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://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of an atypical cardiac rhythm resulting from a pathologic process in the cardiac ventricles.
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.
T-wave inversion in the right precordial leads
MedGen UID:
871172
Concept ID:
C4025646
Finding
Focal necrosis of right ventricular muscle cells
MedGen UID:
446487
Concept ID:
CN003012
Finding

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

te Riele AS, James CA, Groeneweg JA, Sawant AC, Kammers K, Murray B, Tichnell C, van der Heijden JF, Judge DP, Dooijes D, van Tintelen JP, Hauer RN, Calkins H, Tandri H
Eur Heart J 2016 Mar 1;37(9):755-63. Epub 2015 Aug 27 doi: 10.1093/eurheartj/ehv387. PMID: 26314686
Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H
Circ Cardiovasc Genet 2015 Jun;8(3):437-46. Epub 2015 Mar 27 doi: 10.1161/CIRCGENETICS.114.001003. PMID: 25820315
Lopez-Ayala JM, Pastor-Quirante F, Gonzalez-Carrillo J, Lopez-Cuenca D, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Gimeno JR
Heart Rhythm 2015 Apr;12(4):766-73. Epub 2015 Jan 20 doi: 10.1016/j.hrthm.2015.01.001. PMID: 25616123
Te Riele AS, Hauer RN
Trends Cardiovasc Med 2015 Apr;25(3):191-8. Epub 2014 Nov 15 doi: 10.1016/j.tcm.2014.11.003. PMID: 25601034
Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN
Circulation 2011 Jun 14;123(23):2690-700. Epub 2011 May 23 doi: 10.1161/CIRCULATIONAHA.110.988287. PMID: 21606396

Diagnosis

te Riele AS, James CA, Groeneweg JA, Sawant AC, Kammers K, Murray B, Tichnell C, van der Heijden JF, Judge DP, Dooijes D, van Tintelen JP, Hauer RN, Calkins H, Tandri H
Eur Heart J 2016 Mar 1;37(9):755-63. Epub 2015 Aug 27 doi: 10.1093/eurheartj/ehv387. PMID: 26314686
Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H
Circ Cardiovasc Genet 2015 Jun;8(3):437-46. Epub 2015 Mar 27 doi: 10.1161/CIRCGENETICS.114.001003. PMID: 25820315
Lopez-Ayala JM, Pastor-Quirante F, Gonzalez-Carrillo J, Lopez-Cuenca D, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Gimeno JR
Heart Rhythm 2015 Apr;12(4):766-73. Epub 2015 Jan 20 doi: 10.1016/j.hrthm.2015.01.001. PMID: 25616123
Te Riele AS, Hauer RN
Trends Cardiovasc Med 2015 Apr;25(3):191-8. Epub 2014 Nov 15 doi: 10.1016/j.tcm.2014.11.003. PMID: 25601034
Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN
Circulation 2011 Jun 14;123(23):2690-700. Epub 2011 May 23 doi: 10.1161/CIRCULATIONAHA.110.988287. PMID: 21606396

Therapy

Mayosi BM, Fish M, Shaboodien G, Mastantuono E, Kraus S, Wieland T, Kotta MC, Chin A, Laing N, Ntusi NB, Chong M, Horsfall C, Pimstone SN, Gentilini D, Parati G, Strom TM, Meitinger T, Pare G, Schwartz PJ, Crotti L
Circ Cardiovasc Genet 2017 Apr;10(2) doi: 10.1161/CIRCGENETICS.116.001605. PMID: 28280076
Letsas KP, Efremidis M, Weber R, Korantzopoulos P, Protonotarios N, Prappa E, Kounas SP, Evagelidou EN, Xydonas S, Kalusche D, Sideris A, Arentz T
Heart Rhythm 2011 Jun;8(6):874-8. Epub 2011 Apr 11 doi: 10.1016/j.hrthm.2011.01.043. PMID: 21315837
Taur Y, Frishman WH
Cardiol Rev 2005 May-Jun;13(3):142-6. doi: 10.1097/01.crd.0000128709.84812.86. PMID: 15831148
Peters S, Brattström A, Götting B, Trümmel M
Int J Cardiol 2002 May;83(2):111-7. PMID: 12007682
Coumbe A, Perez-Martinez AL, Fegan AW, Hill IR
Med Sci Law 1997 Jul;37(3):262-5. doi: 10.1177/002580249703700314. PMID: 9264236

Prognosis

Gupta R, Tichnell C, Murray B, Rizzo S, Te Riele A, Tandri H, Judge DP, Thiene G, Basso C, Calkins H, James CA
Am J Cardiol 2017 Jul 1;120(1):111-117. Epub 2017 Apr 13 doi: 10.1016/j.amjcard.2017.03.251. PMID: 28506445
te Riele AS, James CA, Groeneweg JA, Sawant AC, Kammers K, Murray B, Tichnell C, van der Heijden JF, Judge DP, Dooijes D, van Tintelen JP, Hauer RN, Calkins H, Tandri H
Eur Heart J 2016 Mar 1;37(9):755-63. Epub 2015 Aug 27 doi: 10.1093/eurheartj/ehv387. PMID: 26314686
Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H
Circ Cardiovasc Genet 2015 Jun;8(3):437-46. Epub 2015 Mar 27 doi: 10.1161/CIRCGENETICS.114.001003. PMID: 25820315
Lopez-Ayala JM, Pastor-Quirante F, Gonzalez-Carrillo J, Lopez-Cuenca D, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Gimeno JR
Heart Rhythm 2015 Apr;12(4):766-73. Epub 2015 Jan 20 doi: 10.1016/j.hrthm.2015.01.001. PMID: 25616123
Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN
Circulation 2011 Jun 14;123(23):2690-700. Epub 2011 May 23 doi: 10.1161/CIRCULATIONAHA.110.988287. PMID: 21606396

Clinical prediction guides

Hodgkinson KA, Howes AJ, Boland P, Shen XS, Stuckless S, Young TL, Curtis F, Collier A, Parfrey PS, Connors SP
Circ Arrhythm Electrophysiol 2016 Mar;9(3) doi: 10.1161/CIRCEP.115.003589. PMID: 26966288
te Riele AS, James CA, Groeneweg JA, Sawant AC, Kammers K, Murray B, Tichnell C, van der Heijden JF, Judge DP, Dooijes D, van Tintelen JP, Hauer RN, Calkins H, Tandri H
Eur Heart J 2016 Mar 1;37(9):755-63. Epub 2015 Aug 27 doi: 10.1093/eurheartj/ehv387. PMID: 26314686
Merabet Y, Bontemps L, Chevalier P, Itti R
Int J Cardiovasc Imaging 2012 Jun;28(5):1267-77. Epub 2011 Jul 6 doi: 10.1007/s10554-011-9918-y. PMID: 21732029
Cox MG, van der Zwaag PA, van der Werf C, van der Smagt JJ, Noorman M, Bhuiyan ZA, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, van den Wijngaard A, Houweling AC, Jongbloed JD, Jordaens L, Cramer MJ, Doevendans PA, de Bakker JM, Wilde AA, van Tintelen JP, Hauer RN
Circulation 2011 Jun 14;123(23):2690-700. Epub 2011 May 23 doi: 10.1161/CIRCULATIONAHA.110.988287. PMID: 21606396
Dalal D, Tandri H, Judge DP, Amat N, Macedo R, Jain R, Tichnell C, Daly A, James C, Russell SD, Abraham T, Bluemke DA, Calkins H
J Am Coll Cardiol 2009 Apr 14;53(15):1289-99. doi: 10.1016/j.jacc.2008.12.045. PMID: 19358943

Recent systematic reviews

Mestroni L, Milasin J, Vatta M, Pinamonti B, Sinagra G, Rocco C, Matulic M, Falaschi A, Giacca M, Camerini F
Arch Mal Coeur Vaiss 1996 Jul;89 Spec No 2:15-20. PMID: 8881501

Supplemental Content

Table of contents

    Clinical resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center