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Arrhythmogenic right ventricular dysplasia 10(ARVD10; ARVC10)

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

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 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.

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.  https://medlineplus.gov/genetics/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

From HPO
Chest pain
MedGen UID:
2992
Concept ID:
C0008031
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest.
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).
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 tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms).
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 bundle branch block
MedGen UID:
88445
Concept ID:
C0085615
Disease or Syndrome
A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG.
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.
Prolonged PR interval
MedGen UID:
154645
Concept ID:
C0600125
Finding
Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex).
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.
Increased circulating troponin I concentration
MedGen UID:
1636885
Concept ID:
C4703660
Finding
An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction.
Epsilon wave
MedGen UID:
1815063
Concept ID:
C5706157
Finding
An electric signal of depolarization observed between the end of the QRS complex and the beginning of the T wave.
Increased circulating creatine kinase MB isoform
MedGen UID:
1690106
Concept ID:
C5139211
Finding
An increased concentration of the MB isoform of creatine kinase in the blood circulation.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term wooly 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

Corrado D, Zorzi A, Cipriani A, Bauce B, Bariani R, Beffagna G, De Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Perazzolo Marra M, Basso C
J Am Heart Assoc 2021 Sep 21;10(18):e021987. Epub 2021 Sep 17 doi: 10.1161/JAHA.121.021987. PMID: 34533054Free PMC Article
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Recent clinical studies

Etiology

Ye JZ, Delmar M, Lundby A, Olesen MS
Clin Genet 2019 Dec;96(6):506-514. Epub 2019 Aug 19 doi: 10.1111/cge.13621. PMID: 31402444
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Brieler J, Breeden MA, Tucker J
Am Fam Physician 2017 Nov 15;96(10):640-646. PMID: 29431384
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
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355

Diagnosis

Corrado D, Zorzi A, Cipriani A, Bauce B, Bariani R, Beffagna G, De Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Perazzolo Marra M, Basso C
J Am Heart Assoc 2021 Sep 21;10(18):e021987. Epub 2021 Sep 17 doi: 10.1161/JAHA.121.021987. PMID: 34533054Free PMC Article
Ye JZ, Delmar M, Lundby A, Olesen MS
Clin Genet 2019 Dec;96(6):506-514. Epub 2019 Aug 19 doi: 10.1111/cge.13621. PMID: 31402444
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Brieler J, Breeden MA, Tucker J
Am Fam Physician 2017 Nov 15;96(10):640-646. PMID: 29431384
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

Therapy

Cappelletto C, Gregorio C, Barbati G, Romani S, De Luca A, Merlo M, Mestroni L, Stolfo D, Sinagra G
Int J Cardiol 2021 Jul 1;334:58-64. Epub 2021 May 5 doi: 10.1016/j.ijcard.2021.04.069. PMID: 33961942
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Hodes AR, Tichnell C, Te Riele AS, Murray B, Groeneweg JA, Sawant AC, Russell SD, van Spaendonck-Zwarts KY, van den Berg MP, Wilde AA, Tandri H, Judge DP, Hauer RN, Calkins H, van Tintelen JP, James CA
Heart 2016 Feb 15;102(4):303-12. Epub 2015 Dec 30 doi: 10.1136/heartjnl-2015-308624. PMID: 26719359Free PMC Article
Caldwell J, Redfearn D, Chiale PA, Baranchuk A
Heart Rhythm 2013 Nov;10(11):1737-8. Epub 2012 Aug 29 doi: 10.1016/j.hrthm.2012.08.038. PMID: 23102627
Pinamonti B, Dragos AM, Pyxaras SA, Merlo M, Pivetta A, Barbati G, Di Lenarda A, Morgera T, Mestroni L, Sinagra G
Eur Heart J 2011 May;32(9):1105-13. Epub 2011 Feb 28 doi: 10.1093/eurheartj/ehr040. PMID: 21362707

Prognosis

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
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
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
Avramides D, Protonotarios N, Asimaki A, Matsakas E
Hellenic J Cardiol 2011 Sep-Oct;52(5):452-61. PMID: 21940295
Anderson EL
Am Fam Physician 2006 Apr 15;73(8):1391-8. PMID: 16669561

Clinical prediction guides

Fujino M, Miyazaki A, Furukawa O, Somura J, Yoshida Y, Hayama Y, Kamakura S, Negishi J, Wada M, Kusano K, Ohuchi H
Heart Vessels 2021 Jun;36(6):863-873. Epub 2021 Jan 29 doi: 10.1007/s00380-020-01754-2. PMID: 33511492
Nunes de Alencar Neto J, Baranchuk A, Bayés-Genís A, Bayés de Luna A
Europace 2018 Jun 1;20(FI1):f3-f12. doi: 10.1093/europace/eux202. PMID: 29272363
Hershberger RE, Hedges DJ, Morales A
Nat Rev Cardiol 2013 Sep;10(9):531-47. Epub 2013 Jul 30 doi: 10.1038/nrcardio.2013.105. PMID: 23900355
Marcus FI, Abidov A
J Cardiovasc Electrophysiol 2012 Oct;23(10):1149-53. Epub 2012 Aug 21 doi: 10.1111/j.1540-8167.2012.02412.x. PMID: 22909229
Al-Mallah M, Kwong RY
Rev Cardiovasc Med 2009 Summer;10(3):134-41. doi: 10.3909/ricm0462. PMID: 19898290

Recent systematic reviews

Sharma A, Bosman LP, Tichnell C, Nanavati J, Murray B, Nonyane BAS, Tandri H, Calkins H, James CA
Circ Genom Precis Med 2022 Jun;15(3):e003530. Epub 2022 May 17 doi: 10.1161/CIRCGEN.121.003530. PMID: 35579515
Grondin S, Wazirian AC, Jorda P, Terrone DG, Gagnon J, Robb L, Amyot J, Rivard L, Pagé S, Talajic M, Cadrin-Tourigny J, Tadros R
Am J Med Genet A 2020 Oct;182(10):2359-2368. Epub 2020 Aug 18 doi: 10.1002/ajmg.a.61799. PMID: 32808748
Bosman LP, Sammani A, James CA, Cadrin-Tourigny J, Calkins H, van Tintelen JP, Hauer RNW, Asselbergs FW, Te Riele ASJM
Heart Rhythm 2018 Jul;15(7):1097-1107. Epub 2018 Feb 3 doi: 10.1016/j.hrthm.2018.01.031. PMID: 29408436
Mu J, Zhang G, Xue D, Xi M, Qi J, Dong H
Medicine (Baltimore) 2017 Nov;96(47):e8808. doi: 10.1097/MD.0000000000008808. PMID: 29381985Free PMC Article

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