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Arrhythmogenic right ventricular cardiomyopathy, type 4(ARVD4)

MedGen UID:
356107
Concept ID:
C1865881
Disease or Syndrome
Synonyms: ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 4; ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 4; ARVD4
Modes of inheritance:
Heterogeneous
MedGen UID:
5539
Concept ID:
C0019409
Qualitative Concept
Made up of elements or ingredients that are not alike.
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
OMIM: 602087

Disease characteristics

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) 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; with time, 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]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Elizabeth McNally  |  Heather MacLeod  |  Lisa Dellefave-Castillo   view full author information

Additional description

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.  http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy

Clinical features

Right ventricular cardiomyopathy
MedGen UID:
506599
Concept ID:
CN167391
Finding
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

Recent clinical studies

Etiology

Friedrich FW, Dilanian G, Khattar P, Juhr D, Gueneau L, Charron P, Fressart V, Vilquin JT, Isnard R, Gouya L, Richard P, Hammoudi N, Komajda M, Bonne G, Eschenhagen T, Dubourg O, Villard E, Carrier L
Eur J Heart Fail 2013 Mar;15(3):267-76. Epub 2012 Nov 14 doi: 10.1093/eurjhf/hfs178. [Epub ahead of print] PMID: 23152444
Campuzano O, Alcalde M, Berne P, Castro V, Guzzo G, Iglesias A, Alonso-Pulpon L, Garcia-Pavia P, Brugada J, Brugada R
Eur J Med Genet 2012 Apr;55(4):225-34. Epub 2012 Feb 22 doi: 10.1016/j.ejmg.2012.02.007. [Epub ahead of print] PMID: 22421524
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. [Epub ahead of print] PMID: 20723652
Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP
Circ Cardiovasc Genet 2009 Oct;2(5):418-27. Epub 2009 Aug 1 doi: 10.1161/CIRCGENETICS.108.839829. [Epub ahead of print] PMID: 20031616
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. [Epub ahead of print] PMID: 18313022Free PMC Article

Diagnosis

Campuzano O, Alcalde M, Berne P, Castro V, Guzzo G, Iglesias A, Alonso-Pulpon L, Garcia-Pavia P, Brugada J, Brugada R
Eur J Med Genet 2012 Apr;55(4):225-34. Epub 2012 Feb 22 doi: 10.1016/j.ejmg.2012.02.007. [Epub ahead of print] PMID: 22421524
Quarta G, Syrris P, Ashworth M, Jenkins S, Zuborne Alapi K, Morgan J, Muir A, Pantazis A, McKenna WJ, Elliott PM
Eur Heart J 2012 May;33(9):1128-36. Epub 2011 Dec 23 doi: 10.1093/eurheartj/ehr451. [Epub ahead of print] PMID: 22199124
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. [Epub ahead of print] PMID: 20723652
Haapalahti P, Viitasalo M, Kaartinen M, Väänänen H, Oikarinen L, Heliö T, Toivonen L
Scand Cardiovasc J 2008 Dec;42(6):375-82. doi: 10.1080/14017430802192337. PMID: 18615356
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. [Epub ahead of print] PMID: 21315837
Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP
Circ Cardiovasc Genet 2009 Oct;2(5):418-27. Epub 2009 Aug 1 doi: 10.1161/CIRCGENETICS.108.839829. [Epub ahead of print] PMID: 20031616
Seixo F, Rossi R, Adração P, Cavaco D, Santos KR, Morgado FB, Martins FM
Rev Port Cardiol 2008 Nov;27(11):1419-26. PMID: 19227809
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 [Epub ahead of print] 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

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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
Leclercq JF, Coumel P
Eur Heart J 1993 Sep;14 Suppl E:80-3. PMID: 8223760

Clinical prediction guides

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. [Epub ahead of print] PMID: 21315837
Bhuiyan ZA, Jongbloed JD, van der Smagt J, Lombardi PM, Wiesfeld AC, Nelen M, Schouten M, Jongbloed R, Cox MG, van Wolferen M, Rodriguez LM, van Gelder IC, Bikker H, Suurmeijer AJ, van den Berg MP, Mannens MM, Hauer RN, Wilde AA, van Tintelen JP
Circ Cardiovasc Genet 2009 Oct;2(5):418-27. Epub 2009 Aug 1 doi: 10.1161/CIRCGENETICS.108.839829. [Epub ahead of print] PMID: 20031616
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. [Epub ahead of print] 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
Coonar AS, Protonotarios N, Tsatsopoulou A, Needham EW, Houlston RS, Cliff S, Otter MI, Murday VA, Mattu RK, McKenna WJ
Circulation 1998 May 26;97(20):2049-58. PMID: 9610536

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