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Arrhythmogenic right ventricular cardiomyopathy, type 8(ARVD8)

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

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

Heart failure
MedGen UID:
6749
Concept ID:
C0018801
Disease or Syndrome
A heterogeneous condition in which the heart is unable to pump out sufficient blood to meet the metabolic need of the body. Heart failure can be caused by structural defects, functional abnormalities (VENTRICULAR DYSFUNCTION), or a sudden overload beyond its capacity. Chronic heart failure is more common than acute heart failure which results from sudden insult to cardiac function, such as MYOCARDIAL INFARCTION.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of a rapid grossly irregular ventricular rhythm with marked variability in QRS cycle length, morphology, and amplitude. The rate is typically greater than 300 bpm. (CDISC)
Ventricular tachycardia
MedGen UID:
12068
Concept ID:
C0042514
Finding
A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.(NICHD)
Ventricular extrasystoles
MedGen UID:
56236
Concept ID:
C0151636
Pathologic Function
A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

ACMG Board of Directors.
Genet Med 2015 Jan;17(1):68-9. Epub 2014 Nov 13 doi: 10.1038/gim.2014.151. PMID: 25356965
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics.
Genet Med 2013 Jul;15(7):565-74. Epub 2013 Jun 20 doi: 10.1038/gim.2013.73. PMID: 23788249Free PMC Article

External

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Recent clinical studies

Etiology

Lahtinen AM, Lehtonen E, Marjamaa A, Kaartinen M, Heliö T, Porthan K, Oikarinen L, Toivonen L, Swan H, Jula A, Peltonen L, Palotie A, Salomaa V, Kontula K
Heart Rhythm 2011 Aug;8(8):1214-21. Epub 2011 Mar 10 doi: 10.1016/j.hrthm.2011.03.015. PMID: 21397041
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
Chu AF, Zado E, Marchlinski FE
Am J Cardiol 2010 Sep 1;106(5):720-2. Epub 2010 Jul 23 doi: 10.1016/j.amjcard.2010.04.031. PMID: 20723652
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL
Am J Hum Genet 2008 Apr;82(4):809-21. Epub 2008 Feb 28 doi: 10.1016/j.ajhg.2008.01.010. PMID: 18313022Free PMC Article
Nava A, Folino AF, Bauce B, Turrini P, Buja GF, Daliento L, Thiene G
Eur Heart J 2000 Jan;21(1):58-65. doi: 10.1053/euhj.1999.1733. PMID: 10610745

Diagnosis

Taylor M, Graw S, Sinagra G, Barnes C, Slavov D, Brun F, Pinamonti B, Salcedo EE, Sauer W, Pyxaras S, Anderson B, Simon B, Bogomolovas J, Labeit S, Granzier H, Mestroni L
Circulation 2011 Aug 23;124(8):876-85. Epub 2011 Aug 1 doi: 10.1161/CIRCULATIONAHA.110.005405. PMID: 21810661Free PMC Article
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
Chu AF, Zado E, Marchlinski FE
Am J Cardiol 2010 Sep 1;106(5):720-2. Epub 2010 Jul 23 doi: 10.1016/j.amjcard.2010.04.031. PMID: 20723652
Beffagna G, De Bortoli M, Nava A, Salamon M, Lorenzon A, Zaccolo M, Mancuso L, Sigalotti L, Bauce B, Occhi G, Basso C, Lanfranchi G, Towbin JA, Thiene G, Danieli GA, Rampazzo A
BMC Med Genet 2007 Oct 26;8:65. doi: 10.1186/1471-2350-8-65. PMID: 17963498Free PMC Article
Nava A, Folino AF, Bauce B, Turrini P, Buja GF, Daliento L, Thiene G
Eur Heart J 2000 Jan;21(1):58-65. doi: 10.1053/euhj.1999.1733. PMID: 10610745

Therapy

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
Sato K, Shiga T, Matsuda N, Onoda N, Takano K, Hagiwara N, Kasanuki H
Endocr J 2006 Aug;53(4):531-8. Epub 2006 Jul 10 PMID: 16829703
Furlanello F, Bertoldi A, Dallago M, Galassi A, Fernando F, Biffi A, Mazzone P, Pappone C, Chierchia S
J Cardiovasc Electrophysiol 1998 Aug;9(8 Suppl):S63-8. PMID: 9727678

Prognosis

Xu J, Liu Y, Xie Y, Zhao C, Wang H
Biomed Res Int 2017;2017:2850659. Epub 2017 Feb 14 doi: 10.1155/2017/2850659. PMID: 28286759Free PMC Article
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
Chu AF, Zado E, Marchlinski FE
Am J Cardiol 2010 Sep 1;106(5):720-2. Epub 2010 Jul 23 doi: 10.1016/j.amjcard.2010.04.031. PMID: 20723652
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL
Am J Hum Genet 2008 Apr;82(4):809-21. Epub 2008 Feb 28 doi: 10.1016/j.ajhg.2008.01.010. PMID: 18313022Free PMC Article
Nava A, Folino AF, Bauce B, Turrini P, Buja GF, Daliento L, Thiene G
Eur Heart J 2000 Jan;21(1):58-65. doi: 10.1053/euhj.1999.1733. PMID: 10610745

Clinical prediction guides

Xu J, Liu Y, Xie Y, Zhao C, Wang H
Biomed Res Int 2017;2017:2850659. Epub 2017 Feb 14 doi: 10.1155/2017/2850659. PMID: 28286759Free PMC Article
Utomi V, Oxborough D, Ashley E, Lord R, Fletcher S, Stembridge M, Shave R, Hoffman MD, Whyte G, Somauroo J, Sharma S, George K
Eur J Appl Physiol 2015 Aug;115(8):1673-82. Epub 2015 Mar 17 doi: 10.1007/s00421-015-3147-3. PMID: 25779702
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
Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL
Am J Hum Genet 2008 Apr;82(4):809-21. Epub 2008 Feb 28 doi: 10.1016/j.ajhg.2008.01.010. PMID: 18313022Free PMC Article
Nava A, Folino AF, Bauce B, Turrini P, Buja GF, Daliento L, Thiene G
Eur Heart J 2000 Jan;21(1):58-65. doi: 10.1053/euhj.1999.1733. PMID: 10610745

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