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Arrhythmogenic right ventricular dysplasia, familial, 4(ARVD4)

MedGen UID:
356107
Concept ID:
C1865881
Disease or Syndrome
Synonyms: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 4; ARVD4
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®: 602087

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

Rastegar N, Te Riele AS, James CA, Bhonsale A, Murray B, Tichnell C, Calkins H, Tandri H, Bluemke DA, Kamel IR, Zimmerman SL
Radiology 2016 Aug;280(2):405-12. Epub 2016 Mar 11 doi: 10.1148/radiol.2016150988. PMID: 26967143Free PMC Article
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
Mast TP, Teske AJ, Doevendans PA, Cramer MJ
Cardiol J 2015;22(4):362-74. Epub 2015 Mar 19 doi: 10.5603/CJ.a2015.0018. PMID: 25786767
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
Murray B
J Genet Couns 2012 Aug;21(4):494-504. Epub 2012 Mar 17 doi: 10.1007/s10897-012-9497-7. PMID: 22426942

Diagnosis

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
Mast TP, Teske AJ, Doevendans PA, Cramer MJ
Cardiol J 2015;22(4):362-74. Epub 2015 Mar 19 doi: 10.5603/CJ.a2015.0018. PMID: 25786767
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
Murray B
J Genet Couns 2012 Aug;21(4):494-504. Epub 2012 Mar 17 doi: 10.1007/s10897-012-9497-7. PMID: 22426942
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

Therapy

Donaldson EE, Ko JM, Gonzalez-Stawinski G, Hall SA, Roberts WC
Am J Cardiol 2014 Sep 1;114(5):806-9. Epub 2014 Jun 18 doi: 10.1016/j.amjcard.2014.05.053. PMID: 25037673
Olde Nordkamp LR, Wilde AA, Tijssen JG, Knops RE, van Dessel PF, de Groot JR
Circ Arrhythm Electrophysiol 2013 Feb;6(1):91-100. Epub 2012 Dec 29 doi: 10.1161/CIRCEP.112.975268. PMID: 23275262
Corrado D, Basso C, Leoni L, Tokajuk B, Bauce B, Frigo G, Tarantini G, Napodano M, Turrini P, Ramondo A, Daliento L, Nava A, Buja G, Iliceto S, Thiene G
Circulation 2005 Jun 14;111(23):3042-50. Epub 2005 Jun 6 doi: 10.1161/CIRCULATIONAHA.104.486977. PMID: 15939822
Peters S, Brattström A, Götting B, Trümmel M
Int J Cardiol 2002 May;83(2):111-7. PMID: 12007682
van der Wall EE, Kayser HW, Bootsma MM, de Roos A, Schalij MJ
Herz 2000 Jun;25(4):356-64. PMID: 10948772

Prognosis

Rastegar N, Te Riele AS, James CA, Bhonsale A, Murray B, Tichnell C, Calkins H, Tandri H, Bluemke DA, Kamel IR, Zimmerman SL
Radiology 2016 Aug;280(2):405-12. Epub 2016 Mar 11 doi: 10.1148/radiol.2016150988. PMID: 26967143Free PMC Article
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
Mast TP, Teske AJ, Doevendans PA, Cramer MJ
Cardiol J 2015;22(4):362-74. Epub 2015 Mar 19 doi: 10.5603/CJ.a2015.0018. PMID: 25786767
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
Yu J, Hu J, Dai X, Cao Q, Xiong Q, Liu X, Liu X, Shen Y, Chen Q, Hua W, Hong K
Herz 2014 Mar;39(2):271-5. Epub 2013 Dec 8 doi: 10.1007/s00059-013-3998-5. PMID: 24317018

Clinical prediction guides

Silvano M, Mastella G, Zorzi A, Migliore F, Pilichou K, Bauce B, Rigato I, Perazzolo Marra M, Iliceto S, Thiene G, Basso C, Corrado D
Minerva Med 2016 Aug;107(4):194-216. Epub 2016 May 17 PMID: 27186923
Mast TP, Teske AJ, Doevendans PA, Cramer MJ
Cardiol J 2015;22(4):362-74. Epub 2015 Mar 19 doi: 10.5603/CJ.a2015.0018. PMID: 25786767
Yu J, Hu J, Dai X, Cao Q, Xiong Q, Liu X, Liu X, Shen Y, Chen Q, Hua W, Hong K
Herz 2014 Mar;39(2):271-5. Epub 2013 Dec 8 doi: 10.1007/s00059-013-3998-5. PMID: 24317018
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
Calkins H
Trans Am Clin Climatol Assoc 2008;119:273-86; discussion 287-8. PMID: 18596851Free PMC Article

Recent systematic reviews

Nasir K, Rutberg J, Tandri H, Berger R, Tomaselli G, Calkins H
Ann Noninvasive Electrocardiol 2003 Apr;8(2):112-20. PMID: 12848791

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