ARVC
MCID: ARR001
MIFTS: 50

Arrhythmogenic Right Ventricular Dysplasia (ARVC) malady

Genetic diseases, Rare diseases, Cardiovascular diseases categories
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Summaries for Arrhythmogenic Right Ventricular Dysplasia

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Arrhythmogenic right ventricular dysplasia (arvd) is an inherited heart condition in which the muscle of the right ventricle of the heart is replaced by fat and/or scar tissue. the condition is progressive and over time the right ventricle loses the ability to pump blood. individuals with arvd often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. other symptoms of arvd include chest palpitations, dizziness, fainting and shortness of breath. often, sudden cardiac death can be the first sign of arvd. arvd is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. there is also some evidence that arvd could be caused by an infection of the heart muscle. treatment options can vary by patient and may include anti-arrhythmogenic medication, implantable cardioverter defibrillators and catheter ablation. last updated: 1/30/2013

MalaCards: Arrhythmogenic Right Ventricular Dysplasia, also known as arrhythmogenic right ventricular cardiomyopathy, is related to naxos disease and right bundle branch block. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia is TMEM43 (transmembrane protein 43), and among its related pathways is Hypertrophic cardiomyopathy (HCM). Affiliated tissues include heart, testes and brain.

Genetics Home Reference:21 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.

Wikipedia:65 Arrhythmogenic right ventricular dysplasia (ARVD), also called arrhythmogenic right ventricular... more...

Description from OMIM:47 611528, 107970, 610193, 609040, 607450 600996, 610476, 604400 more

GeneReviews summary for arvd

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia

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8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 22GTR, 20GeneTests, 47OMIM, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

49
arrhythmogenic right ventricular dysplasia:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000; Age of onset: Adulthood


Aliases & Descriptions:

arrhythmogenic right ventricular dysplasia 8 19 43 21 10 45 49 62
arrhythmogenic right ventricular cardiomyopathy 19 43 22 21 49
arvd 8 19 43 21 49
arrhythmogenic right ventricular dysplasia/cardiomyopathy 8 19 20 21
arvc 19 43 21 49
arrhythmogenic right ventricular cardiomyopathy 1 8 22
arrhythmogenic right ventricular cardiomyopathy-dysplasia 21
arrhythmogenic right ventricular dysplasia, familial, 1 62
ventricular dysplasia, right, arrhythmogenic 21
right ventricular dysplasia, arrhythmogenic 21
arvd/c 21


External Ids:

Disease Ontology8 DOID:0050431
MeSH35 D019571
MESH via Orphanet36 D019571
ICD10 via Orphanet26 I42.8
SNOMED-CT via Orphanet59 253528005, 281170005
UMLS via Orphanet63 C0349788

Related Diseases for Arrhythmogenic Right Ventricular Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Arrhythmogenic Right Ventricular Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 73)
idRelated DiseaseScoreTop Affiliating Genes
1naxos disease10.8
2right bundle branch block10.7
3keratoderma10.7
4cardiac sarcoidosis10.6
5myocarditis10.6
6sarcoidosis10.6
7syncope10.6
8arrhythmogenic right ventricular dysplasia 110.6
9myopathy10.6
10myofibrillar myopathy10.6
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.6
12arrhythmogenic right ventricular dysplasia/cardiomyopathy 110.6
13arrhythmogenic right ventricular dysplasia/cardiomyopathy 310.6
14arrhythmogenic right ventricular dysplasia/cardiomyopathy 410.6
15arrhythmogenic right ventricular dysplasia/cardiomyopathy 510.6
16arrhythmogenic right ventricular dysplasia/cardiomyopathy 610.6
17arrhythmogenic right ventricular dysplasia/cardiomyopathy 710.6
18arrhythmogenic right ventricular dysplasia/cardiomyopathy 810.6
19arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.6
20arrhythmogenic right ventricular dysplasia 1210.6
21dilated cardiomyopathy10.5
22myocardial infarction10.5
23arrhythmogenic right ventricular dysplasia 210.5
24arrhythmogenic right ventricular dysplasia 410.5
25arrhythmogenic right ventricular dysplasia 510.5
26arrhythmogenic right ventricular dysplasia 810.5
27arrhythmogenic right ventricular dysplasia 610.5
28arrhythmogenic right ventricular dysplasia, familial, 1310.5
29arrhythmogenic right ventricular dysplasia 910.5
30arrhythmogenic right ventricular dysplasia 310.5
31arrhythmogenic right ventricular dysplasia 1110.5
32arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair10.5
33arrhythmogenic right ventricular dysplasia 1010.5
34mitral valve prolapse10.3
35mixed ductal-endocrine carcinoma10.3
36tetralogy of fallot10.3
37nonepidermolytic palmoplantar keratoderma10.3
38ectodermal dysplasia10.3
39kocher-debre-semelaigne syndrome10.3
40autonomic dysfunction10.3
41atrioventricular block10.3
42wolff-parkinson-white syndrome10.3
43transsexualism10.3
44protein-losing enteropathy10.3
45peripartum cardiomyopathy10.3
46hypertrophic cardiomyopathy10.3
47constrictive pericarditis10.3
48patent foramen ovale10.3
49brugada syndrome10.3
50arts syndrome10.3

Graphical network of the top 20 diseases related to Arrhythmogenic Right Ventricular Dysplasia:



Diseases related to arrhythmogenic right ventricular dysplasia

Symptoms for Arrhythmogenic Right Ventricular Dysplasia

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47OMIM
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Clinical features from OMIM:

611528,107970,610193,609040,607450,600996,610476,604400

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Arrhythmogenic Right Ventricular Dysplasia

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia

Genetic Tests for Arrhythmogenic Right Ventricular Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Arrhythmogenic Right Ventricular Dysplasia:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy Multi-Gene Panels20
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy20 TMEM43
3 Arrhythmogenic Right Ventricular Cardiomyopathy22
4 Arrhythmogenic Right Ventricular Cardiomyopathy, Type 122

Anatomical Context for Arrhythmogenic Right Ventricular Dysplasia

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33MalaCards
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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia:

33
Heart, Testes, Brain, Skin

Animal Models for Arrhythmogenic Right Ventricular Dysplasia or affiliated genes

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Publications for Arrhythmogenic Right Ventricular Dysplasia

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52PubMed
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Articles related to Arrhythmogenic Right Ventricular Dysplasia:

(show top 50)    (show all 433)
idTitleAuthorsYear
1
An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. (23347029)
2013
2
Eliminating ventricular tachycardia by targeting premature ventricular contractions in arrhythmogenic right ventricular dysplasia/cardiomyopathy: innocent bystander or heart of the matter? (23424221)
2013
3
Mega-epsilon waves on 12-lead ECG--just another case of arrhythmogenic right ventricular dysplasia/cardiomyopathy? (24016846)
2013
4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. (23871674)
2013
5
Cardiac sarcoidosis mimicking arrhythmogenic right ventricular dysplasia with high defibrillation threshold requiring subcutaneous shocking coil implantation. (21982156)
2012
6
Combined endocardial and epicardial catheter ablation in arrhythmogenic right ventricular dysplasia incorporating scar dechanneling technique. (22205683)
2012
7
Prevalence of left ventricular regional dysfunction in arrhythmogenic right ventricular dysplasia: a tagged MRI study. (20197508)
2010
8
Ablation of ventricular arrhythmias in arrhythmogenic right ventricular dysplasia. (20132399)
2010
9
Arrhythmogenic right ventricular dysplasia. (19147049)
2009
10
A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. (19569224)
2009
11
Case report: echocardiographic deformation imaging detects left ventricular involvement in a young boy with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (18585802)
2009
12
Arrhythmogenic right ventricular dysplasia/cardiomyopathy. (18248278)
2008
13
Quantitative assessment of angiographic right ventricular wall motion in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C). (17900252)
2008
14
Bundle branch reentry ventricular tachycardia in arrhythmogenic right ventricular dysplasia. (18246417)
2008
15
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (18382419)
2008
16
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: clinical profile of four patients and review. (18364664)
2008
17
Newly diagnosed arrhythmogenic right ventricular dysplasia in an octogenarian. (18631265)
2008
18
Images in cardiovascular medicine. Intracardiac correlate of the epsilon wave in a patient with arrhythmogenic right ventricular dysplasia. (17533186)
2007
19
Magnetic resonance imaging findings in suspected arrhythmogenic right ventricular dysplasia. (17549982)
2007
20
Arrhythmogenic right ventricular dysplasia. (16669561)
2006
21
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. (17010805)
2006
22
Could the C677T mutation in the MTHFR gene be another genetic cause of arrhythmogenic right ventricular dysplasia? (16680746)
2006
23
Advances in the diagnostic management of arrhythmogenic right ventricular dysplasia-cardiomyopathy. (16737750)
2006
24
Postoperative death in a patient with unrecognized arrhythmogenic right ventricular dysplasia syndrome. (15271703)
2004
25
Pronounced epsilon waves in arrhythmogenic right ventricular dysplasia. (15028061)
2004
26
Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (15451782)
2004
27
Arrhythmogenic right ventricular dysplasia presenting as acute coronary syndrome: a case report. (15341876)
2004
28
Results of ajmaline testing in patients with arrhythmogenic right ventricular dysplasia-cardiomyopathy. (15193821)
2004
29
Controversial role of magnetic resonance imaging in the diagnosis of arrhythmogenic right ventricular dysplasia. (12943901)
2003
30
A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. (12875771)
2003
31
Magnetic resonance imaging findings in patients meeting task force criteria for arrhythmogenic right ventricular dysplasia. (12776863)
2003
32
Arrhythmogenic right ventricular dysplasia in the elderly. (12358179)
2002
33
Electrophysiological characteristics and outcome in patients with idiopathic right ventricular arrhythmia compared with arrhythmogenic right ventricular dysplasia. (11751663)
2002
34
Postoperative sudden death in two adolescents with myelomeningocele and unrecognized arrhythmogenic right ventricular dysplasia. (11465566)
2001
35
Genetics of brugada, long QT, and arrhythmogenic right ventricular dysplasia syndromes. (11265709)
2000
36
The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14. (10631146)
2000
37
Right ventricular thrombosis in arrhythmogenic right ventricular dysplasia. (11447470)
2000
38
Increased dispersion of repolarization in patients with arrhythmogenic right ventricular dysplasia--a major electrophysiological factor responsible for malignant ventricular arrhythmias. (10329062)
1999
39
QT dispersion in patients with arrhythmogenic right ventricular dysplasia. (10329068)
1999
40
Diagnostic value of plasma levels of brain natriuretic peptide in arrhythmogenic right ventricular dysplasia. (9832489)
1998
41
Arrhythmogenic right ventricular dysplasia (ARVD) in childhood: Case report with a review of the literature. (17369740)
1997
42
Catastrophic global heart failure in a patient with non-arrhythmogenic right ventricular dysplasia. (9496466)
1997
43
MR features of arrhythmogenic right ventricular dysplasia. (8140995)
1994
44
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant (20301310)
1993
45
Two cases of chronic myocarditis mimicking arrhythmogenic right ventricular dysplasia. (2093713)
1990
46
Electrode catheter ablation of resistant ventricular tachycardia in arrhythmogenic right ventricular dysplasia: experience of 13 patients with a mean follow-up of 45 months. (2806308)
1989
47
Electrovectorcardiographic study of negative T waves on precordial leads in arrhythmogenic right ventricular dysplasia: relationship with right ventricular volumes. (3171457)
1988
48
Familial form of arrhythmogenic right ventricular dysplasia. (3825875)
1987
49
Arrhythmogenic right ventricular dysplasia. Clinical, electrophysiological, and pathological features. (3867340)
1985
50
Long-term management of arrhythmogenic right ventricular dysplasia. (6217885)
1983

Variations for Arrhythmogenic Right Ventricular Dysplasia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Dysplasia:

1 (show all 11)
id Gene Name Type Significance SNP ID Assembly Location
1TGFB3TGFB3: c.*495C> Tsingle nucleotide variantPathogenicrs387906514GRCh37Chr 14, 76425035: 76425035
2DSG2NM_001943.3(DSG2): c.146G> A (p.Arg49His)single nucleotide variantLikely pathogenic, Pathogenicrs121913006GRCh37Chr 18, 29099830: 29099830
3DSG2NM_001943.3(DSG2): c.137G> A (p.Arg46Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121913008GRCh37Chr 18, 29099821: 29099821
4NM_001943.3(DSG2): c.2434G> T (p.Gly812Cys)single nucleotide variantLikely pathogenic, Pathogenicrs121913010GRCh37Chr 18, 29125783: 29125783
5DSG2NM_001943.3(DSG2): c.991G> A (p.Glu331Lys)single nucleotide variantLikely pathogenic, Pathogenicrs121913012GRCh37Chr 18, 29104828: 29104828
6DSG2NM_001943.3(DSG2): c.1880-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs397514038GRCh37Chr 18, 29121154: 29121154
7DSPNM_004415.2(DSP): c.88G> A (p.Val30Met)single nucleotide variantLikely benign, Likely pathogenic, Pathogenicrs121912998GRCh37Chr 6, 7542236: 7542236
8DSC2NM_004949.3(DSC2): c.631-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs397514042GRCh37Chr 18, 28667778: 28667778
9PKP2NM_004572.3(PKP2): c.235C> T (p.Arg79Ter)single nucleotide variantPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
10PKP2NM_004572.3(PKP2): c.2146-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
11TMEM43NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu)single nucleotide variantPathogenicrs63750743GRCh37Chr 3, 14183165: 14183165

Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

Search GEO for disease gene expression data for Arrhythmogenic Right Ventricular Dysplasia.

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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50PathCards, 30KEGG, 38NCBI BioSystems Database
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Pathways related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy38
8.0RYR2, DSG2, DSC2, TGFB3

Compounds for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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16Gene Ontology
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Cellular components related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:0300578.8DSG2, DSC2
2plasma membraneGO:0058868.0RYR2, DSG2, DSC2, TGFB3

Biological processes related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to progesteroneGO:0325709.3DSG2, TGFB3
2response to hypoxiaGO:0016669.3RYR2, TGFB3
3bundle of His cell to Purkinje myocyte communicationGO:0860699.2DSG2, DSC2
4regulation of heart rate by cardiac conductionGO:0860919.1DSC2, DSG2
5homophilic cell adhesionGO:0071568.8DSG2, DSC2
6ventricular cardiac muscle cell action potentialGO:0860058.6RYR2, DSG2, DSC2

Molecular functions related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055098.5RYR2, DSG2, DSC2

Products for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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Sources for Arrhythmogenic Right Ventricular Dysplasia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet