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 skin, 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, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 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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Sources:
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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Search NIH Clinical Center for Arrhythmogenic Right Ventricular Dysplasia

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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, Skin, Brain

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
Eliminating ventricular tachycardia by targeting premature ventricular contractions in arrhythmogenic right ventricular dysplasia/cardiomyopathy: innocent bystander or heart of the matter? (23424221)
2013
2
The presence of epsilon waves in all precordial leads (V1 -V6 ) in a 13-year-old boy with arrhythmogenic right ventricular dysplasia (ARVD). (24047494)
2013
3
Clinico-radiological profile of arrhythmogenic right ventricular dysplasia at a tertiary care center: Two year experience. (24174851)
2013
4
Scintigraphic spectrum of a patient population with suspected arrhythmogenic right ventricular dysplasia. (21732029)
2012
5
Ablation of ventricular arrhythmias in arrhythmogenic right ventricular dysplasia. (20132399)
2010
6
C-reactive protein in arrhythmogenic right ventricular dysplasia/cardiomyopathy and relationship with ventricular tachycardia. (20885777)
2010
7
'Stack of coins' indicative of arrhythmogenic right-ventricular dysplasia. (20736194)
2010
8
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. (20031616)
2009
9
Prospective study of cardiac sarcoid mimicking arrhythmogenic right ventricular dysplasia. (19017339)
2009
10
Catheter ablation of ventricular tachycardia in arrhythmogenic right ventricular dysplasia. (18975068)
2009
11
Anaesthetic implications of arrhythmogenic right ventricular dysplasia/cardiomyopathy. (19087010)
2009
12
Newly diagnosed arrhythmogenic right ventricular dysplasia in an octogenarian. (18631265)
2008
13
Sixty-four-multislice computed tomography in a patient with arrhythmogenic right ventricular dysplasia. (19083946)
2008
14
Multidetector computed tomography findings of arrhythmogenic right ventricular dysplasia: a case report. (18297780)
2008
15
Substrate-based catheter ablation in previously undiagnosed arrhythmogenic right ventricular dysplasia by means of an electroanatomic mapping system using cutaneous patches. (19039764)
2008
16
A novel treatment strategy for therapy refractory ventricular arrhythmias in the setting of arrhythmogenic right ventricular dysplasia. (17363427)
2007
17
Arrhythmogenic right ventricular dysplasia masquerading as an abdominal episode. (18029331)
2007
18
Arrhythmogenic right ventricular dysplasia. (16669561)
2006
19
Evaluation and course of an unusual case of arrhythmogenic right ventricular dysplasia. (16240170)
2006
20
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. (16917092)
2006
21
Echocardiographic findings and the search for a gold standard in patients with arrhythmogenic right ventricular dysplasia. (15766821)
2005
22
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C): a multidisciplinary study: design and protocol. (12814984)
2003
23
Ventricular tachycardia associated with bidirectional reentrant circuit around the tricuspid annulus in arrhythmogenic right ventricular dysplasia. (14516352)
2003
24
Utility of a combined signal-averaged electrocardiogram and QT dispersion algorithm in identifying arrhythmogenic right ventricular dysplasia in patients with tachycardia of right ventricular origin. (12842263)
2003
25
The molecular genetics of arrhythmogenic right ventricular dysplasia-cardiomyopathy. (12934820)
2003
26
Arrhythmogenic right ventricular dysplasia in the elderly. (14633315)
2003
27
Characterizing abnormal regional longitudinal function in arrhythmogenic right ventricular dysplasia. The potential clinical role of ultrasonic myocardial deformation imaging. (12749871)
2003
28
Perioperative management of Fontan operation for two patients with arrhythmogenic right ventricular dysplasia. (14517671)
2002
29
Pericardial effusion, arrhythmogenic right ventricular dysplasia and apical diverticulum: an uncommon association. (12365178)
2002
30
Ethnic differences in arrhythmogenic right ventricular dysplasia/cardiomyopathy. (12036541)
2002
31
Postoperative sudden death in two adolescents with myelomeningocele and unrecognized arrhythmogenic right ventricular dysplasia. (11465566)
2001
32
Arrhythmogenic right ventricular dysplasia/cardiomyopathy in a Siberian husky. (11303856)
2001
33
Electroanatomic mapping of arrhythmogenic right ventricular dysplasia. (11738310)
2001
34
Genetics of brugada, long QT, and arrhythmogenic right ventricular dysplasia syndromes. (11265709)
2000
35
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: need for an international registry. Study Group on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy of the Working Groups on Myocardial and Pericardial Disease and Arrhythmias of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the World Heart Federation. (10725299)
2000
36
Exercise-induced ST elevation in patients with arrhythmogenic right ventricular dysplasia. (10037083)
1999
37
Ventricular tachycardia in an adolescent with arrhythmogenic right ventricular dysplasia. (10577413)
1999
38
Arrhythmogenic right ventricular dysplasia (ARVD): an overlooked and underdiagnosed condition? (9264236)
1997
39
Usefulness of Biplanar Transesophageal Echocardiography in Arrhythmogenic Right Ventricular Dysplasia: Clinical Experience with Seven Cases. (11442898)
1996
40
Identical twins with arrhythmogenic right ventricular dysplasia. (7484876)
1995
41
Time- and frequency-domain analyses of the signal-averaged ECG in patients with arrhythmogenic right ventricular dysplasia. (7828298)
1995
42
Potential role of endomyocardial biopsy in the clinical characterization of patients with idiopathic ventricular fibrillation: arrhythmogenic right ventricular dysplasia--an undervalued cause. (8172077)
1994
43
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant (20301310)
1993
44
A casual spontaneous mutation as possible cause of the familial form of arrhythmogenic right ventricular cardiomyopathy (arrhythmogenic right ventricular dysplasia). (1551270)
1992
45
Arrhythmogenic right ventricular dysplasia. (1953536)
1991
46
Detection of fatty tissue in the myocardium by using computerized tomography in a patient with arrhythmogenic right ventricular dysplasia. (2093715)
1990
47
Two-dimensional echocardiography in arrhythmogenic right ventricular dysplasia. (2806298)
1989
48
A polymorphic form of familial arrhythmogenic right ventricular dysplasia. (3591698)
1987
49
Arrhythmogenic right ventricular dysplasia in a family. (4061306)
1985
50
Arrhythmogenic right ventricular dysplasia: clinical features, diagnostic techniques, and current management. (7064774)
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