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Arrhythmogenic right ventricular cardiomyopathy, type 10(ARVD10)

MedGen UID:
347543
Concept ID:
C1857777
Disease or Syndrome
Synonyms: Arrhythmogenic right ventricular dysplasia type 10; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10; ARVD10
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
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.
 
Gene (location): DSG2 (18q12.1)
 
Monarch Initiative: MONDO:0012434
OMIM®: 610193

Disease characteristics

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 GeneReviews]
Authors:
Elizabeth McNally  |  Heather MacLeod  |  Lisa Dellefave-Castillo   view full author information

Additional description

From MedlinePlus Genetics
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.\n\nArrhythmogenic 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.  https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

From HPO
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.
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.
Ventricular extrasystoles
MedGen UID:
56236
Concept ID:
C0151636
Disease or Syndrome
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.

ACMG SF v3.0, 2021

Recent clinical studies

Etiology

Chen P, Xiao Y, Wang Y, Zheng Z, Chen L, Yang X, Li J, Wu W, Zhang S
Theranostics 2020;10(24):11215-11229. Epub 2020 Sep 14 doi: 10.7150/thno.45172. PMID: 33042279Free PMC Article
Dominguez F, Zorio E, Jimenez-Jaimez J, Salguero-Bodes R, Zwart R, Gonzalez-Lopez E, Molina P, Bermúdez-Jiménez F, Delgado JF, Braza-Boïls A, Bornstein B, Toquero J, Segovia J, Van Tintelen JP, Lara-Pezzi E, Garcia-Pavia P
Heart Rhythm 2020 Jun;17(6):945-954. Epub 2020 Feb 13 doi: 10.1016/j.hrthm.2020.01.035. PMID: 32062046
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
Chen LT, Jiang CY
Mol Med Rep 2019 Mar;19(3):2238-2244. Epub 2019 Jan 17 doi: 10.3892/mmr.2019.9873. PMID: 30664203Free PMC Article
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

Diagnosis

Chen P, Xiao Y, Wang Y, Zheng Z, Chen L, Yang X, Li J, Wu W, Zhang S
Theranostics 2020;10(24):11215-11229. Epub 2020 Sep 14 doi: 10.7150/thno.45172. PMID: 33042279Free PMC Article
Christensen AH, Andersen CB, Wassilew K, Svendsen JH, Bundgaard H, Brand SM, Schmitz B
J Mol Cell Cardiol 2019 Jun;131:164-170. Epub 2019 Apr 30 doi: 10.1016/j.yjmcc.2019.04.029. PMID: 31051180
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
Gehmlich K, Asimaki A, Cahill TJ, Ehler E, Syrris P, Zachara E, Re F, Avella A, Monserrat L, Saffitz JE, McKenna WJ
Heart Rhythm 2010 Oct;7(10):1446-53. Epub 2010 Aug 11 doi: 10.1016/j.hrthm.2010.08.007. PMID: 20708101Free PMC Article
Matolweni LO, Bardien S, Rebello G, Oppon E, Munclinger M, Ramesar R, Watkins H, Mayosi BM
BMC Med Genet 2006 Mar 28;7:29. doi: 10.1186/1471-2350-7-29. PMID: 16569242Free PMC Article

Therapy

Heidbuchel H, Willems R, Jordaens L, Olshansky B, Carre F, Lozano IF, Wilhelm M, Müssigbrodt A, Huybrechts W, Morgan J, Anfinsen OG, Prior D, Mont L, Mairesse GH, Boveda S, Duru F, Kautzner J, Viskin S, Geelen P, Cygankiewicz I, Hoffmann E, Vandenberghe K, Cannom D, Lampert R
Eur J Prev Cardiol 2019 May;26(7):764-775. Epub 2019 Feb 27 doi: 10.1177/2047487319834852. PMID: 30813818
Winkelmann ZK, Crossway AK
J Athl Train 2017 Dec;52(12):1168-1170. Epub 2017 Nov 20 doi: 10.4085/1062-6050-52.11.24. PMID: 29154691Free 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
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 doi: 10.1507/endocrj.k06-027. PMID: 16829703
Haissaguerre M, Warin JF, Lemétayer P, Guillem JP, Blanchot P
Pacing Clin Electrophysiol 1989 Jan;12(1 Pt 2):245-51. doi: 10.1111/j.1540-8159.1989.tb02653.x. PMID: 2466259

Prognosis

Dominguez F, Zorio E, Jimenez-Jaimez J, Salguero-Bodes R, Zwart R, Gonzalez-Lopez E, Molina P, Bermúdez-Jiménez F, Delgado JF, Braza-Boïls A, Bornstein B, Toquero J, Segovia J, Van Tintelen JP, Lara-Pezzi E, Garcia-Pavia P
Heart Rhythm 2020 Jun;17(6):945-954. Epub 2020 Feb 13 doi: 10.1016/j.hrthm.2020.01.035. PMID: 32062046
Christensen AH, Andersen CB, Wassilew K, Svendsen JH, Bundgaard H, Brand SM, Schmitz B
J Mol Cell Cardiol 2019 Jun;131:164-170. Epub 2019 Apr 30 doi: 10.1016/j.yjmcc.2019.04.029. PMID: 31051180
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
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
Peters S
Europace 2008 Jul;10(7):816-20. Epub 2008 Feb 27 doi: 10.1093/europace/eun030. PMID: 18304999

Clinical prediction guides

Chen P, Xiao Y, Wang Y, Zheng Z, Chen L, Yang X, Li J, Wu W, Zhang S
Theranostics 2020;10(24):11215-11229. Epub 2020 Sep 14 doi: 10.7150/thno.45172. PMID: 33042279Free PMC Article
Christensen AH, Andersen CB, Wassilew K, Svendsen JH, Bundgaard H, Brand SM, Schmitz B
J Mol Cell Cardiol 2019 Jun;131:164-170. Epub 2019 Apr 30 doi: 10.1016/j.yjmcc.2019.04.029. PMID: 31051180
Siragam V, Cui X, Masse S, Ackerley C, Aafaqi S, Strandberg L, Tropak M, Fridman MD, Nanthakumar K, Liu J, Sun Y, Su B, Wang C, Liu X, Yan Y, Mendlowitz A, Hamilton RM
PLoS One 2014;9(10):e109128. Epub 2014 Oct 24 doi: 10.1371/journal.pone.0109128. PMID: 25343256Free PMC Article
Gehmlich K, Asimaki A, Cahill TJ, Ehler E, Syrris P, Zachara E, Re F, Avella A, Monserrat L, Saffitz JE, McKenna WJ
Heart Rhythm 2010 Oct;7(10):1446-53. Epub 2010 Aug 11 doi: 10.1016/j.hrthm.2010.08.007. PMID: 20708101Free PMC Article
Peters S
Europace 2008 Jul;10(7):816-20. Epub 2008 Feb 27 doi: 10.1093/europace/eun030. PMID: 18304999

Recent systematic reviews

Winkelmann ZK, Crossway AK
J Athl Train 2017 Dec;52(12):1168-1170. Epub 2017 Nov 20 doi: 10.4085/1062-6050-52.11.24. PMID: 29154691Free PMC Article

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