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Arrhythmogenic right ventricular cardiomyopathy, type 11(ARVD11)

MedGen UID:
351237
Concept ID:
C1864850
Disease or Syndrome
Synonyms: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy11; ARVD11
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
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).
 
Gene (location): DSC2 (18q12.1)
OMIM®: 610476

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

Clinical features

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.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Fainting is a temporary loss of consciousness. If you're about to faint, you'll feel dizzy, lightheaded, or nauseous. Your field of vision may white out or black out. Your skin may be cold and clammy. You lose muscle control at the same time, and may fall down. Fainting usually happens when your blood pressure drops suddenly, causing a decrease in blood flow to your brain. It is more common in older people. Some causes of fainting include. -Heat or dehydration . -Emotional distress . -Standing up too quickly . -Certain medicines . -Drop in blood sugar . -Heart problems . When someone faints, make sure that the airway is clear and check for breathing. The person should stay lying down for 10-15 minutes. Most people recover completely. Fainting is usually nothing to worry about, but it can sometimes be a sign of a serious problem. If you faint, it's important to see your health care provider and find out why it happened. .
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).
Ventricular arrhythmia
MedGen UID:
39082
Concept ID:
C0085612
Disease or Syndrome
Irregular heart beat 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.
Respiratory difficulties
MedGen UID:
3938
Concept ID:
C0013404
Sign or Symptom
Difficult or labored breathing.
Hereditary palmoplantar keratoderma
MedGen UID:
44017
Concept ID:
C0022596
Disease or Syndrome
Hyperkeratosis affecting the palm of the hand and the sole of the foot.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding

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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 23788249Free PMC Article

Recent clinical studies

Etiology

Asimaki A, Kleber AG, Saffitz JE
Can J Cardiol 2015 Nov;31(11):1313-24. Epub 2015 Apr 24 doi: 10.1016/j.cjca.2015.04.012. [Epub ahead of print] PMID: 26199027Free PMC Article
Milting H, Klauke B, Christensen AH, Müsebeck J, Walhorn V, Grannemann S, Münnich T, Šarić T, Rasmussen TB, Jensen HK, Mogensen J, Baecker C, Romaker E, Laser KT, zu Knyphausen E, Kassner A, Gummert J, Judge DP, Connors S, Hodgkinson K, Young TL, van der Zwaag PA, van Tintelen JP, Anselmetti D
Eur Heart J 2015 Apr 7;36(14):872-81. Epub 2014 Mar 4 doi: 10.1093/eurheartj/ehu077. [Epub ahead of print] PMID: 24598986
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
Rampazzo A, Beffagna G, Nava A, Occhi G, Bauce B, Noiato M, Basso C, Frigo G, Thiene G, Towbin J, Danieli GA
Eur J Hum Genet 2003 Jan;11(1):69-76. doi: 10.1038/sj.ejhg.5200914. PMID: 12529708

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
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. [Epub ahead of print] PMID: 21810661Free PMC Article
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
Jiang D, Wang R, Xiao B, Kong H, Hunt DJ, Choi P, Zhang L, Chen SR
Circ Res 2005 Nov 25;97(11):1173-81. Epub 2005 Oct 20 doi: 10.1161/01.RES.0000192146.85173.4b. [Epub ahead of print] PMID: 16239587
Toda G, Iliev II, Kawahara F, Hayano M, Yano K
Intern Med 2000 Jul;39(7):531-6. PMID: 10888207

Therapy

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
Nogami A, Sugiyasu A, Tada H, Kurosaki K, Sakamaki M, Kowase S, Oginosawa Y, Kubota S, Usui T, Naito S
J Cardiovasc Electrophysiol 2008 Jul;19(7):681-8. Epub 2008 Feb 13 doi: 10.1111/j.1540-8167.2008.01104.x. [Epub ahead of print] PMID: 18284499
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
Proclemer A, Ciani R, Feruglio GA
Pacing Clin Electrophysiol 1989 Jun;12(6):977-89. PMID: 2472625
Haissaguerre M, Warin JF, Lemétayer P, Guillem JP, Blanchot P
Pacing Clin Electrophysiol 1989 Jan;12(1 Pt 2):245-51. PMID: 2466259

Prognosis

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
Gilljam T, Bergh CH
Eur J Heart Fail 2009 Jan;11(1):106-9. doi: 10.1093/eurjhf/hfn014. PMID: 19147464
Nogami A, Sugiyasu A, Tada H, Kurosaki K, Sakamaki M, Kowase S, Oginosawa Y, Kubota S, Usui T, Naito S
J Cardiovasc Electrophysiol 2008 Jul;19(7):681-8. Epub 2008 Feb 13 doi: 10.1111/j.1540-8167.2008.01104.x. [Epub ahead of print] PMID: 18284499
Proclemer A, Ciani R, Feruglio GA
Pacing Clin Electrophysiol 1989 Jun;12(6):977-89. PMID: 2472625
Haissaguerre M, Warin JF, Lemétayer P, Guillem JP, Blanchot P
Pacing Clin Electrophysiol 1989 Jan;12(1 Pt 2):245-51. PMID: 2466259

Clinical prediction guides

Nogami A, Sugiyasu A, Tada H, Kurosaki K, Sakamaki M, Kowase S, Oginosawa Y, Kubota S, Usui T, Naito S
J Cardiovasc Electrophysiol 2008 Jul;19(7):681-8. Epub 2008 Feb 13 doi: 10.1111/j.1540-8167.2008.01104.x. [Epub ahead of print] PMID: 18284499
Proclemer A, Ciani R, Feruglio GA
Pacing Clin Electrophysiol 1989 Jun;12(6):977-89. PMID: 2472625

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