ARVC
MCID: ARR001
MIFTS: 59

Arrhythmogenic Right Ventricular Dysplasia (ARVC) malady

Cardiovascular diseases, Genetic diseases categories

Summaries for Arrhythmogenic Right Ventricular Dysplasia

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 arrhythmogenic right ventricular dysplasia 1 and dilated cardiomyopathy. An important gene associated with Arrhythmogenic Right Ventricular Dysplasia is RYR2 (ryanodine receptor 2 (cardiac)), and among its related pathways are Apoptotic cleavage of cell adhesion proteins and Antiarrhythmic Pathway, Pharmacodynamics. The compounds 4-chloro-m-cresol and cyclic adp-ribose have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and brain, and related mouse phenotype mortality/aging.

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

Description from OMIM:46 607450, 609040, 107970, 600996, 610193 611528, 610476, 604400 more

GeneReviews summary for arvd

Aliases & Classifications for Arrhythmogenic Right Ventricular Dysplasia

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 22GTR, 20GeneTests, 46OMIM, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 42 21 10 44 48 60
arrhythmogenic right ventricular cardiomyopathy 19 42 22 21 48
arvd 8 19 42 21 48
arrhythmogenic right ventricular dysplasia/cardiomyopathy 8 19 20 21
arvc 19 42 21 48
arrhythmogenic right ventricular cardiomyopathy 1 8 22
arrhythmogenic right ventricular cardiomyopathy-dysplasia 21
arrhythmogenic right ventricular dysplasia, familial, 1 60
ventricular dysplasia, right, arrhythmogenic 21
right ventricular dysplasia, arrhythmogenic 21
arvd/c 21


External Ids:

Disease Ontology8 DOID:0050431
MeSH34 D019571
MESH via Orphanet35 D019571
ICD10 via Orphanet26 I42.8
SNOMED-CT via Orphanet57 253528005, 281170005
UMLS via Orphanet61 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 80)
idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 130.9TGFB3
2dilated cardiomyopathy30.9SCN5A, DSP, RYR2, RYR1
3arrhythmogenic right ventricular dysplasia/cardiomyopathy 530.8TMEM43, ARVD5
4arrhythmogenic right ventricular dysplasia 530.6RPSA
5naxos disease30.4JUP, PKP2, DSP
6right bundle branch block10.7
7cardiac sarcoidosis10.6
8myocarditis10.6
9sarcoidosis10.6
10myopathy10.5
11myofibrillar myopathy10.5
12arrhythmogenic right ventricular dysplasia/cardiomyopathy 210.5
13arrhythmogenic right ventricular dysplasia/cardiomyopathy 110.5
14arrhythmogenic right ventricular dysplasia/cardiomyopathy 310.5
15arrhythmogenic right ventricular dysplasia/cardiomyopathy 410.5
16arrhythmogenic right ventricular dysplasia/cardiomyopathy 610.5
17arrhythmogenic right ventricular dysplasia/cardiomyopathy 710.5
18arrhythmogenic right ventricular dysplasia/cardiomyopathy 810.5
19arrhythmogenic right ventricular dysplasia/cardiomyopathy 910.5
20arrhythmogenic right ventricular dysplasia 1210.5
21hair disease10.5
22brugada syndrome10.4
23hypertrophic cardiomyopathy10.4
24long qt syndrome10.4
25myocardial infarction10.4
26arrhythmogenic right ventricular dysplasia 210.4
27arrhythmogenic right ventricular dysplasia 410.4
28arrhythmogenic right ventricular dysplasia 810.4
29arrhythmogenic right ventricular dysplasia 610.4
30arrhythmogenic right ventricular dysplasia 910.4
31arrhythmogenic right ventricular dysplasia 310.4
32arrhythmogenic right ventricular dysplasia 1110.4
33arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair10.4
34arrhythmogenic right ventricular dysplasia 1010.4
35mitral valve prolapse10.3
36nonepidermolytic palmoplantar keratoderma10.3
37mixed ductal-endocrine carcinoma10.3
38tetralogy of fallot10.3
39autosomal recessive disease10.3
40atrioventricular block10.3
41transsexualism10.3
42pulmonary systemic sclerosis10.3
43wolff-parkinson-white syndrome10.3
44patent foramen ovale10.3
45arts syndrome10.3
46protein-losing enteropathy10.3
47peripartum cardiomyopathy10.3
48sick sinus syndrome10.3
49constrictive pericarditis10.3
50acute myocardial infarction10.3

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



Diseases related to arrhythmogenic right ventricular dysplasia

Clinical Features for Arrhythmogenic Right Ventricular Dysplasia

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46OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Dysplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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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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32MalaCards
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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Dysplasia:

32
Heart, Testes, Brain, Skin

Animal Models for Arrhythmogenic Right Ventricular Dysplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Dysplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107688.8TGFB3, JUP, SCN5A, PKP2, DSP, DSC3

Publications for Arrhythmogenic Right Ventricular Dysplasia

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50PubMed
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Articles related to Arrhythmogenic Right Ventricular Dysplasia:

(show top 50)    (show all 447)
idTitleAuthorsYear
1
An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. (23347029)
2013
2
Reply: Pregnancy in arrhythmogenic right ventricular dysplasia/cardiomyopathy. (23994404)
2013
3
Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. (23889974)
2013
4
Arrhythmogenic right ventricular cardiomyopathy/dysplasia and troponin release. Myocarditis or the "hot phase" of the disease? (21962611)
2012
5
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) presenting as congestive heart failure, ventricular tachycardia, and right atrial mass in a young male: role of echocardiography in connecting the missing link. (21395671)
2011
6
A new approach for the comparison of conduction abnormality between arrhythmogenic right ventricular cardiomyopathy/dysplasia and Brugada syndrome. (21762254)
2011
7
Guy Fontaine and arrhythmogenic right ventricular dysplasia. (21692229)
2011
8
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. (21606396)
2011
9
Altered two-dimensional strain measures of the right ventricle in patients with Brugada syndrome and arrhythmogenic right ventricular dysplasia/cardiomyopathy. (21865227)
2011
10
The role of cardiac magnetic resonance imaging in the evaluation of arrhythmogenic right ventricular dysplasia. (21197278)
2010
11
Some previously neglected examples of arrhythmogenic right ventricular dysplasia/cardiomyopathy and frequency of its various reported manifestations. (20599014)
2010
12
Prevalence and pathophysiologic attributes of ventricular dyssynchrony in arrhythmogenic right ventricular dysplasia/cardiomyopathy. (19628120)
2009
13
New ECG criteria in arrhythmogenic right ventricular dysplasia/cardiomyopathy. (19843920)
2009
14
A case of mistaken identity of arrhythmogenic right ventricular dysplasia in a 75-year-old patient. (21991294)
2009
15
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (18382419)
2008
16
Arrhythmogenic right ventricular dysplasia-cardiomyopathy and provocable coved-type ST-segment elevation in right precordial leads: clues from long-term follow-up. (18304999)
2008
17
Early repolarization phenomenon in arrhythmogenic right ventricular dysplasia-cardiomyopathy and sudden cardiac arrest due to ventricular fibrillation. (18945711)
2008
18
The challenge of early diagnosis in arrhythmogenic right ventricular dysplasia/cardiomyopathy. (18662177)
2008
19
Coming full circle: contouring the right ventricle in arrhythmogenic right ventricular dysplasia/cardiomyopathy. (17916144)
2008
20
Angiotensin-converting enzyme gene polymorphism in arrhythmogenic right ventricular dysplasia: is DD genotype helpful in predicting syncope risk? (19126662)
2008
21
Evolving role of multidetector computed tomography in evaluation of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (17599449)
2007
22
Mechanisms of syncopes in arrhythmogenic right ventricular dysplasia-cardiomyopathy beyond monomorphic ventricular tachycardia. (16321666)
2006
23
Improved diagnosis of arrhythmogenic right ventricular dysplasia. (16524532)
2006
24
Arrhythmogenic right ventricular dysplasia/cardiomyopathy. (16283974)
2005
25
Cardiac lipoma in a patient with proven arrhythmogenic right ventricular dysplasia: a case report. A huge intramyocardial lipoma. (16047131)
2005
26
Arrhythmogenic right ventricular dysplasia. (16259215)
2005
27
Postoperative death in a patient with unrecognized arrhythmogenic right ventricular dysplasia syndrome. (15271703)
2004
28
Natural history and risk stratification of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (15451782)
2004
29
Arrhythmogenic right ventricular dysplasia/cardiomyopathy. (12569915)
2003
30
Usefulness of magnetic resonance imaging in diagnosis of arrhythmogenic right ventricular dysplasia and agreement with electrocardiographic criteria. (12565103)
2003
31
Prediction rule for diagnosis of arrhythmogenic right ventricular dysplasia based on wall thickness measured on MR imaging. (12821029)
2003
32
Update of arrhythmogenic right ventricular dysplasia. (11984018)
2002
33
Arrhythmogenic right ventricular dysplasia/cardiomyopathy. (11465564)
2001
34
Arrhythmogenic right ventricular dysplasia: cardiomyopathy current opinions on diagnostic and therapeutic aspects. (11124713)
2001
35
QT dispersion in patients with arrhythmogenic right ventricular dysplasia. (10329068)
1999
36
Arrhythmogenic right ventricular dysplasia masquerading as dilated cardiomyopathy. (10569693)
1999
37
Arrhythmogenic right ventricular dysplasia. (10073261)
1999
38
Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. (9860777)
1998
39
Catastrophic global heart failure in a patient with non-arrhythmogenic right ventricular dysplasia. (9496466)
1997
40
About the histology of arrhythmogenic right ventricular dysplasia. (9323112)
1997
41
Arrhythmogenic right ventricular dysplasia. (7787258)
1995
42
Characteristics and outcome in arrhythmogenic right ventricular dysplasia. (7856543)
1995
43
Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. (8142187)
1994
44
Late potentials in arrhythmogenic right ventricular dysplasia. Prevalence, diagnostic and prognostic values. (8223760)
1993
45
Arrhythmogenic right ventricular dysplasia: an uncommon cause of ventricular tachycardia in young and old? (8435242)
1993
46
Arrhythmogenic right ventricular dysplasia in brother and sister: is it related to myocarditis? (2140890)
1990
47
Arrhythmogenic right ventricular dysplasia--clinical features. (2806307)
1989
48
Histological evidence of left ventricular involvement in arrhythmogenic right ventricular dysplasia. (2632822)
1989
49
Noninvasive recognition of the parchment right ventricle (Uhl's anomaly arrhythmogenic right ventricular dysplasia) syndrome. (6851283)
1983
50
Two-dimensional echocardiographic detection of arrhythmogenic right ventricular dysplasia. (7081018)
1982

Genetic Variations for Arrhythmogenic Right Ventricular Dysplasia

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Expression for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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1BioGPS, 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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53Reactome, 49PharmGKB, 29KEGG, 37NCBI 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
110.2DSG2, DSP
29.8RYR2, DSP, SCN5A, JUP
3
Hide members
9.4TGFB3, JUP, PKP2, DSP, DSC2, DSG2

Compounds for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 24HMDB
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Compounds related to Arrhythmogenic Right Ventricular Dysplasia according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
14-chloro-m-cresol4410.3RYR1, RYR2
2cyclic adp-ribose4410.3RYR2, RYR1
3procaine44 28 1112.3RYR1, RYR2
4ruthenium red2810.2RYR2, RYR1
5dantrolene44 28 1112.2RYR2, RYR1
6mg2+2810.1RYR1, RYR2
7ryanodine44 28 5912.0RYR1, RYR2, DSP, JUP
8ruthenium449.9RYR1, RYR2
9calcium44 49 11 2412.2SCN5A, DSP, DSC2, DSC3, DSG2, RYR2

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
1intermediate filamentGO:00588210.0DSP, PKP2, JUP
2intercalated discGO:0147049.9JUP, SCN5A, PKP2, DSP
3T-tubuleGO:0303159.9TGFB3, RYR1, SCN5A
4junctional sarcoplasmic reticulum membraneGO:0147019.9RYR2, RYR1
5cell-cell junctionGO:0059119.8JUP, PKP2, DSC3, DSG2
6desmosomeGO:0300579.7DSG2, DSC3, DSC2, DSP, PKP2, JUP
7plasma membraneGO:0058868.5RPSA, JUP, MRGPRE, SCN5A, PKP2, DSP

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1cell communication by electrical coupling involved in cardiac conductionGO:08606410.4PKP2, RYR2
2desmosome assemblyGO:00215910.4PKP2, JUP
3release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:01480810.4RYR1, RYR2
4cellular response to caffeineGO:07131310.4RYR2, RYR1
5response to caffeineGO:03100010.4RYR1, RYR2
6regulation of cardiac muscle cell action potential involved in contractionGO:08600210.3PKP2, SCN5A
7cytosolic calcium ion homeostasisGO:05148010.3RYR1, RYR2
8positive regulation of sodium ion transportGO:01076510.2SCN5A, PKP2
9release of sequestered calcium ion into cytosolGO:05120910.2RYR1, RYR2
10cell-cell adhesionGO:01633710.1JUP, PKP2, DSP
11homophilic cell adhesionGO:00715610.0DSG2, DSC3, DSC2
12response to hypoxiaGO:0016669.9RYR2, RYR1, TGFB3
13regulation of heart rateGO:0020279.9RYR2, SCN5A
14bundle of His cell to Purkinje myocyte communicationGO:0860699.8JUP, SCN5A, PKP2, DSP, DSC2, DSG2
15regulation of heart rate by cardiac conductionGO:0860919.8JUP, SCN5A, PKP2, DSP, DSC2, DSG2
16regulation of ventricular cardiac muscle cell action potentialGO:0860059.7RYR2, JUP, SCN5A, PKP2, DSP, DSC2

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

idNameGO IDScoreTop Affiliating Genes
1ryanodine-sensitive calcium-release channel activityGO:00521910.2RYR1, RYR2
2calcium-release channel activityGO:01527810.2RYR1, RYR2
3scaffold protein bindingGO:09711010.1DSP, SCN5A
4ion channel bindingGO:0443259.9RYR2, PKP2, SCN5A
5calcium ion bindingGO:0055099.4DSC2, DSC3, DSG2, RYR2, RYR1

Products for genes affiliated with Arrhythmogenic Right Ventricular Dysplasia

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Sources for Arrhythmogenic Right Ventricular Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet