MCID: ARR042
MIFTS: 55

Arrhythmogenic Right Ventricular Cardiomyopathy malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

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Aliases & Descriptions for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 11 23 47 24 25 26 13
Arrhythmogenic Right Ventricular Dysplasia 11 23 47 24 25 49 38 67
Arvc 11 23 47 24 25
Arvd 11 23 47 24 25
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 11 23 24 25
 
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 25 26
Ventricular Dysplasia, Right, Arrhythmogenic 25
Right Ventricular Dysplasia, Arrhythmogenic 25
Arvc Cardiomyopathy 11
Arvd/c 25

Characteristics:

GeneReviews:

23
Penetrance: in the single family with a pathogenic variant in dsp reported by rampazzo et al [2002], penetrance was estimated at 50%. other estimates of penetrance in kindreds with autosomal dominant arvd/c are as low as 20%-30% [sen-chowdhry et al 2005]...


Classifications:



External Ids:

Disease Ontology11 DOID:0050431
MeSH38 D019571
NCIt44 C84571

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section
Genetics Home Reference:25 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.

MalaCards based summary: Arrhythmogenic Right Ventricular Cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is related to arrhythmogenic right ventricular dysplasia 8 and ectodermal dysplasia. An important gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy is TMEM43 (Transmembrane Protein 43), and among its related pathways are Cytoskeleton remodeling Neurofilaments and Corticotropin-releasing hormone. Affiliated tissues include heart, testes and pancreas, and related mouse phenotypes are limbs/digits/tail and craniofacial.

Disease Ontology:11 An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.

Wikipedia:70 Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited heart disease. more...

GeneReviews for NBK1131

Related Diseases for Arrhythmogenic Right Ventricular Cardiomyopathy

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Diseases related to Arrhythmogenic Right Ventricular Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 79)
idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 832.9DSP, JUP
2ectodermal dysplasia29.8DES, DMD, DSP, LMNA, RYR2, TTN
3arrhythmogenic right ventricular dysplasia/cardiomyopathy 912.3
4arrhythmogenic right ventricular dysplasia/cardiomyopathy 112.3
5arrhythmogenic right ventricular dysplasia/cardiomyopathy 212.3
6arrhythmogenic right ventricular dysplasia/cardiomyopathy 312.3
7arrhythmogenic right ventricular dysplasia/cardiomyopathy 412.3
8arrhythmogenic right ventricular dysplasia/cardiomyopathy 512.3
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 612.3
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 712.3
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 812.3
12naxos disease12.0
13arrhythmogenic right ventricular dysplasia, familial, 1311.8
14myopathy, myofibrillar, 111.4
15arrhythmogenic right ventricular dysplasia 511.4
16arrhythmogenic right ventricular dysplasia 911.4
17arrhythmogenic right ventricular dysplasia 1211.4
18arrhythmogenic right ventricular dysplasia 1111.4
19arrhythmogenic right ventricular dysplasia 1011.4
20arrhythmogenic right ventricular dysplasia 211.3
21arrhythmogenic right ventricular dysplasia 111.3
22arrhythmogenic right ventricular dysplasia 311.2
23arrhythmogenic right ventricular dysplasia 411.2
24arrhythmogenic right ventricular dysplasia 611.2
25arrhythmogenic right ventricular dysplasia/cardiomyopathy1311.2
26familial isolated arrhythmogenic right ventricular dysplasia11.2
27cardiomyopathy11.1
28dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.6DSP, JUP
29growth hormone deficiency10.6DSP, JUP
30codas syndrome10.6DSC2, DSP, JUP
31ectodermal dysplasia/skin fragility syndrome10.6DSC2, DSP, JUP
32d ercole syndrome10.5DES, DMD
33ventricular tachycardia, catecholaminergic polymorphic, 110.5DSG2, RYR2
34lipoma10.5DSC2, DSP, JUP
35sed, maroteaux type10.5DSC2, DSP, JUP
36cirrhotic cardiomyopathy10.5DSC2, DSG2, DSP
37klippel-feil syndrome 210.5DSC2, DSP, JUP, PKP2
38emery-dreifuss muscular dystrophy 2, ad10.4LMNA, TMEM43
39cerebral cavernous malformation, familial10.4DSG2, RYR1, RYR2
40right bundle branch block10.3
41cardiac sarcoidosis10.3
42odontoclasia10.3DES, LMNA, TMEM43
43brugada syndrome10.2
44vallecula cancer10.2DMD, RYR1, RYR2
45myelodysplastic myeloproliferative cancer10.2RYR1, RYR2, TTN
46microcephaly and chorioretinopathy 110.2DMD, LMNA, RYR1
47tetralogy of fallot10.2
48palmoplantar keratoderma and woolly hair10.2
49myopathy10.2
50myocarditis10.2

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



Diseases related to arrhythmogenic right ventricular cardiomyopathy

Symptoms for Arrhythmogenic Right Ventricular Cardiomyopathy

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Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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Drugs for Arrhythmogenic Right Ventricular Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SpironolactoneapprovedPhase 32221952-01-7, 52-01-75833
Synonyms:
4-18-00-01601 (Beilstein Handbook Reference)
4-Pregnen-21-oic acid-17alpha-ol-3-one-7alpha-thiol gamma-lactone 7-acetate
496916-40-6
52-01-7
7-alpha-Acetylthio-3-oxo-17-alpha-pregn-4-ene-21,17-beta-carbolactone
7alpha-(acetylsulfanyl)-3-oxo-17alpha-pregn-4-ene-21,17-carbolactone
AB00513806
AC-4214
AC1L1L8Q
Abbolactone
Acelat
Aldace
Aldactazide
Aldactide
Aldactone
Aldactone (TN)
Aldactone A
Alderon
Aldopur
Almatol
Alphapharm Brand of Spironolactone
Alpharma Brand of Spironolactone
Alter Brand of Spironolactone
Altex
Aquareduct
Ashbourne Brand of Spironolactone
Azupharma Brand of Spironolactone
BIDD:PXR0071
BPBio1_000194
BRD-K90027355-001-03-4
BRN 0057767
BSPBio_000176
C07310
C24H32O4S
CHEBI:428201
CHEBI:45692
CHEBI:9241
CHEMBL1393
CID5833
CPD000471892
Cardel Brand of Spironolactone
D00443
D013148
DB00421
Deverol
Dexo Brand of Spironolactone
Diatensec
Dira
Duraspiron
EINECS 200-133-6
Espironolactona
Espironolactona Alter
Espironolactona Mundogen
Espironolactona [INN-Spanish]
Euteberol
Flumach
Frumikal
Generosan Brand of Spironolactone
HMS1568I18
HMS2090N21
HSDB 3184
Hormosan Brand of Spironolactone
I06-1970
Jenapharm Brand of Spironolactone
Jenaspiron
LS-118614
LT00772287
Lacalmin
Lacdene
Laractone
MLS001074672
MLS001333253
MLS001333254
MLS002153245
MLS002207058
Mayoly-Spindler Brand of Spironolactone
Melarcon
Merck dura Brand of Spironolactone
Mundogen Brand of Spironolactone
NCGC00164397-01
 
NCGC00164397-02
NSC 150399
NSC150399
Nefurofan
Novo Spiroton
Novo-Spiroton
NovoSpiroton
Novopharm Brand of Spironolactone
Osyrol
Pfizer Brand of Spironolactone
Pharmafrid Brand of Spironolactone
Practon
Prestwick0_000128
Prestwick1_000128
Prestwick2_000128
Prestwick3_000128
Roche Brand of Spironolactone
S0260
S3378_SIGMA
SAM002264648
SC 9420
SC-9420
SC9420
SMR000471892
SNL
SPBio_002115
Sagisal
Searle Brand of Spironolactone
Sincomen
Spiractin
Spiresis
Spiretic
Spiridon
Spiro L.U.T.
Spiro(17H-cyclopenta(a)phenauthrene-17,2'-(3'H)-furan)
Spiro-Tablinen
Spiro[17H-cyclopenta[a]phenauthrene-17,2'-(3'H)-furan]
Spirobeta
Spiroctan
Spiroctanie
Spiroderm
Spirogamma
Spirolactone
Spirolakton
Spirolang
Spirolone
Spirone
Spirono Isis
Spirono-Isis
Spironocompren
Spironolactone
Spironolactone (JP15/USP/INN)
Spironolactone A
Spironolactone [BAN:INN:JAN]
Spironolactone [INN:BAN:JAN]
Spironolactonum
Spironolactonum [INN-Latin]
Spironolattone
Spironolattone [DCIT]
Spironone
Spirospare
Sprioderm
Supra-puren
Suracton
UNII-27O7W4T232
Uractone
Urusonin
Veroshpiron
Verospiron
Verospirone
Verospirone Opianin
WLN: L E5 B666 FX OV MUTJ A1 E1 KSV1 F-& CT5VOXTJ
Worwag Brand of Spironolactone
Xenalon
ZINC03861599
betapharm Brand of Spironolactone
ct Arzneimittel Brand of Spironolactone
ct-Arzneimittel Brand of Spironolactone
spiro von ct
spironolactone
spironolattone
von ct, spiro
2
EplerenoneapprovedPhase 394107724-20-9150310, 443872
Synonyms:
107724-20-9
7alpha-methoxycarbonyl-3-oxo-9,11alpha-epoxy-17alpha-pregn-4-ene-21,17-carbolactone
AC-4213
AC1L9FDC
C12512
CGP-30083
CHEBI:31547
CHEBI:726453
CHEMBL1095097
CID443872
D01115
Eplerenone
 
Eplerenone (JAN/USAN/INN)
Epoxymexrenone
Inspra
Inspra (TN)
Inspra, Epoxymexrenone, CGP30083, SC-66110,Eplerenone
MolPort-003-986-216
NCGC00159559-01
NCGC00159559-02
S1707_Selleck
SC-66110
Selara
TL8000270
ZINC03985982
3MineralocorticoidsPhase 3352
4Natriuretic AgentsPhase 31645
5Mineralocorticoid Receptor AntagonistsPhase 3333
6HormonesPhase 313979
7Diuretics, Potassium SparingPhase 3, Phase 1, Phase 21827
8Hormone AntagonistsPhase 312778
9diureticsPhase 31372
10Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 312767
11Sodium Channel BlockersPhase 1, Phase 21515
12Anti-Arrhythmia AgentsPhase 1, Phase 22969
13
Isoproterenolapproved217683-59-23779
Synonyms:
(+)-Isoprenaline
(+)-Isoproterenol
(+-)-Isoprenaline
(+-)-Isoproterenol
(-)-Isoproterenol hydrochloride
(S)-(+)-Isoproterenol
(S)-Isoprenaline
(S)-Isoproterenol
(±)-isoprenaline
(±)-isoproterenol
.alpha.-(Isopropylaminomoethyl)protocatechuyl alcohol
1,2-Benzenediol, 4-(1-hydroxy-2-((1-methylethyl)amino)ethyl)- (9CI)
1,2-Benzenediol, 4-(1-hydroxy-2-((1-methylethyl)amino)ethyl)-, (S)- (9CI)
1-(3,4-Dihydroxyphenyl)-2-(isopropylamino)ethanol
1-(3,4-Dihydroxyphenyl)-2-isopropylaminoethanol
149-53-1
2964-04-7
3,4-Dihydroxy-.alpha.-(isopropylaminomethyl)-benzyl alcohol
3,4-Dihydroxy-.alpha.-[(isopropylamino)methyl]benzyl alcohol
3,4-Dihydroxy-alpha-((isopropylamino)methyl)benzyl alcohol
3,4-Dihydroxy-alpha-[(isopropylamino)methyl]benzyl alcohol
3-13-00-02387 (Beilstein Handbook Reference)
4-(1-Hydroxy-2(isopropylamino)ethyl)-benzene 1,2-diol
4-(1-Hydroxy-2-((1-methylethyl)amino)ethyl)-1,2-benzenediol
4-{1-hydroxy-2-[(1-methylethyl)amino]ethyl}benzene-1,2-diol
46388-38-9
7683-59-2
AC1L1GOZ
AC1Q1QBS
Aerolone
Aleudrin
Aleudrine
Aludrin
Aludrine
Asiprenol
Asmalar
Assiprenol
BRN 2213857
BSPBio_002208
Bellasthman
Bronkephrine
C07056
CCRIS 3081
CHEMBL434
CID3779
D08090
DB01064
DL(+-)-Isoproterenol
DL-Isopropylnorepinephrine
Dihydroxyphenylethanolisopropylamine
DivK1c_000894
EINECS 231-687-7
Epinephrine Isopropyl Homolog
Epinephrine isopropyl homolog
Euspiran
HMS2089A12
ICI 46399
IDI1_000894
IPA
ISOPROP
Isadrin
Isadrine
Isonorene
Isonorin
Isoprenalin
Isoprenalina
Isoprenalina [INN-Spanish]
Isoprenaline
Isoprenaline (INN)
Isoprenaline hydrochloride
Isoprenalinum
Isoprenalinum [INN-Latin]
Isopropydrin
Isopropyl noradrenaline
Isopropyladrenaline
Isopropylaminomethyl(3,4-dihydroxyphenyl)carbinol
Isopropylaminomethyl-3,4-dihydroxyphenyl carbinol
Isopropylarterenol
Isopropylnoradrenaline
Isopropylnorepinephrine
Isoproterenol
Isoproterenol Chloride
Isoproterenol HCl
Isoproterenol [JAN]
 
Isoproterenolum
Isorenin
Isuprel
Isuprel Mistometer
Isupren
Izadrin
KBio1_000894
KBio2_001429
KBio2_003997
KBio2_006565
KBio3_001428
KBioGR_000427
KBioSS_001429
L-Isopropylnoradrenaline
L-Isoproterenol
L000936
LS-42866
LS-42868
LS-42869
Lomupren
Lopac0_000711
Medihaler-ISO
Medihaler-Iso
MolPort-001-783-449
N-Isopropyl-beta-dihydroxyphenyl-beta-hydroxyethylamine
N-Isopropylnoradrenaline
N-Isopropylnorepinephrine
N-isopropyl-β-dihydroxyphenyl-β-hydroxyethylamine
NCGC00015558-08
NCGC00025274-03
NCGC00025274-04
NCGC00162220-01
NINDS_000894
NSC 33791
NSC 9975
NSC33791
NSC9975
Neo-Epinine
Neodrenal
Norisodrine
Norisodrine Aerotrol
Novodrin
Oprea1_009434
PDSP1_001425
PDSP2_001409
Prestwick0_001097
Prestwick1_001097
Prestwick2_001097
Proternol
Racemic isoprenaline
Racemic isoproterenol
Respifral
SGCUT00015
SPBio_001042
SPBio_003057
STOCK1N-00740
Saventrine
Spectrum2_001061
Spectrum3_000474
Spectrum4_000024
Spectrum5_000880
Spectrum_000949
UNII-L628TT009W
Vapo-Iso
Vapo-N-iso
WIN 5162
WLN: QR BQ DYQ1MY1&1
alpha-(Isopropylaminomethyl)protocatechuyl alcohol
d-Isoprenaline
d-Isopropylarterenol
d-Isoproterenol
d-N-Isopropylnorepinephrine
dl-Ipr
dl-Isadrine
dl-Isopropylnoradrenaline
dl-N-Isopropylnoradrenaline
isoproterenol
l-Isopropylnoradrenaline
l-Isoproterenol
nchembio.307-comp1
nchembio801-comp2
nchembio882-comp6
neo-Epinine
to_000062
α-(isopropylaminomethyl)protocatechuyl alcohol
14Neurotransmitter Agents17734
15Protective Agents7190
16Respiratory System Agents4818
17Peripheral Nervous System Agents22776
18Autonomic Agents9774
19Adrenergic Agents5140
20Adrenergic Agonists2877
21Adrenergic beta-Agonists1640
22Anti-Asthmatic Agents3369
23Bronchodilator Agents2856

Interventional clinical trials:

(show all 17)
idNameStatusNCT IDPhase
1PHOspholamban RElated CArdiomyopathy STudy - InterventionRecruitingNCT01857856Phase 3
2Registry of Unexplained Cardiac ArrestRecruitingNCT00292032Phase 3
3Diagnostic Value and Safety of Flecainide Infusion Test in Brugada SyndromeRecruitingNCT02302274Phase 1, Phase 2
4Renal Nerve Stimulation and Renal Denervation in Patients With Sympathetic Ventricular ArrhythmiasRecruitingNCT02856373Phase 2
5Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesUnknown statusNCT00221832
6Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac DiseaseUnknown statusNCT01767220
7Arrhythmogenic Right Ventricular Dysplasia/CardiomyopathyCompletedNCT00999947
8Multidisciplinary Study of Right Ventricular DysplasiaCompletedNCT00024505
9The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)CompletedNCT02291393
10Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular CardiomyopathyCompletedNCT00083395
11PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVCRecruitingNCT02989480
12Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency DepartmentRecruitingNCT02781207
13Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
14German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
15T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
16National ARVC DATA Registry and Bio BankEnrolling by invitationNCT01804699
17Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) PatientsTerminatedNCT01271816

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Cardiomyopathy


Cochrane evidence based reviews: arrhythmogenic right ventricular dysplasia

Genetic Tests for Arrhythmogenic Right Ventricular Cardiomyopathy

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Genetic tests related to Arrhythmogenic Right Ventricular Cardiomyopathy:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy26
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy26 24 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

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MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

35
Heart, Testes, Pancreas, Brain

Animal Models for Arrhythmogenic Right Ventricular Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy:

40 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.7CTNNB1, DMD, GJA1, LMNA, RYR1, TGFB3
2MP:00053829.4CTNNB1, DSP, GJA1, LMNA, RYR1, TGFB3
3MP:00053809.4CDH2, CTNNB1, DSP, GJA1, JUP, RYR2
4MP:00053868.4BAG3, CTNNB1, DES, DMD, GJA1, LMNA
5MP:00053888.3BAG3, CTNNB1, DMD, GJA1, JUP, LMNA
6MP:00053788.2BAG3, CDH2, CTNNB1, DMD, DSP, GJA1
7MP:00053848.0BAG3, CDH2, CTNNB1, DES, DMD, DSG2
8MP:00053768.0BAG3, CDH2, CTNNB1, DES, DMD, GJA1
9MP:00053697.8BAG3, CDH2, CTNNA3, CTNNB1, DES, DMD
10MP:00053857.6BAG3, CDH2, CTNNA3, CTNNB1, DES, DMD
11MP:00107687.3BAG3, CDH2, CTNNA3, CTNNB1, DES, DMD

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

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Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50)    (show all 244)
idTitleAuthorsYear
1
Arrhythmogenic Right Ventricular Cardiomyopathy. (28052233)
2017
2
Lethal heart failure with anti-mitochondrial antibody: an arrhythmogenic right ventricular cardiomyopathy mimetic. (27651439)
2016
3
Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right Ventricular Cardiomyopathy. (27855808)
2016
4
Atrial Remodeling and Atrial Tachyarrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy. (27378141)
2016
5
Utility of speckle tracking echocardiography imaging in patients with asymptomatic and symptomatic arrhythmogenic right ventricular cardiomyopathy. (27599902)
2016
6
Evaluation of Tp-e Interval, Tp-e/QT Ratio, and Tp-e/QTc Ratio in Patients with Asymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy. (27610610)
2016
7
Survival after Heart Transplantation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. (27154489)
2016
8
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk. (27931611)
2016
9
Unusual Serial Electrocardiographic Changes which Progressed to Arrhythmogenic Right Ventricular Cardiomyopathy. (27150862)
2016
10
New Features of Electrocardiogram in a Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy: A Care-Compliant Article. (27100441)
2016
11
Profiling of differentially expressed microRNAs in arrhythmogenic right ventricular cardiomyopathy. (27307080)
2016
12
Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis. (26498164)
2015
13
Comparison of radionuclide angiographic synchrony analysis to echocardiography and magnetic resonance imaging for the diagnosis of arrhythmogenic right ventricular cardiomyopathy. (25744613)
2015
14
Arrhythmogenic right ventricular cardiomyopathy in monozygotic twin sisters, and persistent left superior vena cava in one complicating implantation of ICD. (26536991)
2015
15
Plakoglobin: a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy in forensic pathology? (25549959)
2015
16
A unique case of systemic thromboembolism in a patient with arrhythmogenic right ventricular cardiomyopathy. (25848377)
2015
17
Long-Term Outcome with Catheter Ablation of Ventricular Tachycardia in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. (26546346)
2015
18
Right Ventricular Strain and Dyssynchrony Assessment in Arrhythmogenic Right Ventricular Cardiomyopathy: Cardiac Magnetic Resonance Feature-Tracking Study. (26534932)
2015
19
Electrocardiographic features of disease progression in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (25599583)
2015
20
iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death. (25691752)
2015
21
Epsilon wave uncovered by exercise test in a patient with desmoplakin-positive arrhythmogenic right ventricular cardiomyopathy. (25936878)
2015
22
Cardiac MR Findings and Potential Diagnostic Pitfalls in Patients Evaluated for Arrhythmogenic Right Ventricular Cardiomyopathy. (25310417)
2014
23
Fulminant variant of Loeffler disease mimicking arrhythmogenic right ventricular cardiomyopathy in the course of enterobiasis. (25246480)
2014
24
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. (25157032)
2014
25
Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy. (25398255)
2014
26
Successful Obstetric Management of Arrhythmogenic Right Ventricular Cardiomyopathy. (25402595)
2014
27
Dizziness and syncope in young people: keep yourmind open! Case report of the challenging differentiation between arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) and catecholaminergic polymorphic ventricular tachycardia (CPVT). (24897975)
2014
28
Clinical usefulness of immunohistochemistry for plakoglobin, N-cadherin, and connexin-43 in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. (24294380)
2013
29
Mutations in the area composita protein I+T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. (23136403)
2013
30
Arrhythmogenic right ventricular cardiomyopathy/dysplasia and troponin release. Myocarditis or the "hot phase" of the disease? (21962611)
2012
31
Special features of right bundle branch block in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. (22036093)
2012
32
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. (22820313)
2012
33
Cardiac sarcoidosis masquerading as arrhythmogenic right ventricular cardiomyopathy. (21937273)
2012
34
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. (22572432)
2012
35
Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. (22240500)
2012
36
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (19863551)
2010
37
Cardiac sarcoidosis mimicking arrhythmogenic right ventricular cardiomyopathy/dysplasia: the renaissance of endomyocardial biopsy? (19207751)
2009
38
Electrical storm in a patient with arrhythmogenic right ventricular cardiomyopathy and SCN5A mutation. (18375968)
2008
39
Arrhythmogenic right ventricular cardiomyopathy/dysplasia. (18001465)
2007
40
Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: an electron microscopy investigation on endomyocardial biopsies. (16774985)
2006
41
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. (16415378)
2006
42
Differential expression of the cardiac ryanodine receptor in normal and arrhythmogenic right ventricular cardiomyopathy canine hearts. (16733711)
2006
43
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: is there a role for viruses? (16414451)
2006
44
Desmoplakin disease in arrhythmogenic right ventricular cardiomyopathy: early genotype-phenotype studies. (15941722)
2005
45
Arrhythmogenic right ventricular cardiomyopathy (Naxos disease): report of a Turkish boy. (14675023)
2003
46
Mutation in human desmoplakin domain binding to plakoglobin causes a dominant form of arrhythmogenic right ventricular cardiomyopathy. (12373648)
2002
47
Genetics of arrhythmogenic right ventricular cardiomyopathy. (12015469)
2002
48
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). (11159936)
2001
49
Mixed ductal-endocrine carcinoma of the pancreas: a possible pathogenic mechanism for arrhythmogenic right ventricular cardiomyopathy. (10656740)
2000
50
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. (10970245)
1999

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

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Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

5 (show all 46)
id Gene Variation Type Significance SNP ID Assembly Location
1DSC2NM_024422.4(DSC2): c.663T> A (p.Tyr221Ter)SNVLikely pathogenic, Pathogenicrs145476705GRCh37Chr 18, 28667744: 28667744
2DSPNM_004415.3(DSP): c.4180C> T (p.Gln1394Ter)SNVLikely pathogenic, Pathogenicrs140474226GRCh37Chr 6, 7580603: 7580603
3DSG2NM_001943.4(DSG2): c.146G> A (p.Arg49His)SNVLikely pathogenic, Pathogenicrs121913006GRCh37Chr 18, 29099830: 29099830
4DSG2NM_001943.4(DSG2): c.137G> A (p.Arg46Gln)SNVLikely pathogenic, Pathogenicrs121913008GRCh37Chr 18, 29099821: 29099821
5DSG2NM_001943.4(DSG2): c.2434G> T (p.Gly812Cys)SNVLikely pathogenic, Pathogenicrs121913010GRCh37Chr 18, 29125783: 29125783
6DSG2NM_001943.4(DSG2): c.991G> A (p.Glu331Lys)SNVPathogenicrs121913012GRCh37Chr 18, 29104828: 29104828
7DSG2NM_001943.4(DSG2): c.1880-2A> GSNVLikely pathogenic, Pathogenicrs397514038GRCh37Chr 18, 29121154: 29121154
8DSG2NM_001943.4(DSG2): c.166G> A (p.Val56Met)SNVPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
9DSC2NM_024422.4(DSC2): c.631-2A> GSNVLikely pathogenic, Pathogenicrs397514042GRCh37Chr 18, 28667778: 28667778
10PKP2NM_004572.3(PKP2): c.772A> T (p.Lys258Ter)SNVLikely pathogenic, Pathogenicrs727504430GRCh37Chr 12, 33031042: 33031042
11PKP2NM_004572.3(PKP2): c.2509delA (p.Ser837Valfs)deletionLikely pathogenic, Pathogenicrs727504432GRCh37Chr 12, 32945646: 32945646
12DSPNM_004415.3(DSP): c.939+1G> ASNVLikely pathogenic, Pathogenicrs727504443GRCh37Chr 6, 7565754: 7565754
13DSPNM_004415.3(DSP): c.2821C> T (p.Arg941Ter)SNVLikely pathogenic, Pathogenicrs730880082GRCh38Chr 6, 7576986: 7576986
14DSPNM_004415.3(DSP): c.1292dupA (p.Tyr431Terfs)duplicationLikely pathogenic, Pathogenicrs786204293GRCh37Chr 6, 7568695: 7568695
15PKP2NM_004572.3(PKP2): c.253_256delGAGT (p.Glu85Metfs)deletionPathogenicrs786204388GRCh38Chr 12, 32879000: 32879003
16PKP2NM_004572.3(PKP2): c.337-2A> TSNVLikely pathogenic, Pathogenicrs786204389GRCh38Chr 12, 32878545: 32878545
17PKP2NM_004572.3(PKP2): c.1170+1G> ASNVLikely pathogenic, Pathogenicrs786204392GRCh37Chr 12, 33021860: 33021860
18PKP2NM_004572.3(PKP2): c.2329_2334delATCATTinsG (p.Ile777Alafs)indelPathogenicrs786204394GRCh37Chr 12, 32949198: 32949203
19PKP2NM_004572.3(PKP2): c.1162C> T (p.Arg388Trp)SNVPathogenicrs766209297GRCh37Chr 12, 33021869: 33021869
20PKP2NM_004572.3(PKP2): c.1643delG (p.Gly548Valfs)deletionLikely pathogenic, Pathogenicrs794729137GRCh38Chr 12, 32841073: 32841073
21CALR3NM_145046.4(CALR3): c.245A> G (p.Lys82Arg)SNVPathogenicrs142951029GRCh37Chr 19, 16601330: 16601330
22PKP2NM_004572.3(PKP2): c.1613G> A (p.Trp538Ter)SNVLikely pathogenic, Pathogenicrs193922672GRCh37Chr 12, 32994037: 32994037
23BAG3NM_004281.3(BAG3): c.652C> T (p.Arg218Trp)SNVLikely pathogenic, Pathogenicrs397514506GRCh37Chr 10, 121431911: 121431911
24DSG2NM_001943.4(DSG2): c.1773_1774delTG (p.Cys591Terfs)deletionLikely pathogenic, Pathogenicrs397516703GRCh37Chr 18, 29118835: 29118836
25DSG2NM_001943.4(DSG2): c.523+2T> CSNVLikely pathogenic, Pathogenicrs397516709GRCh37Chr 18, 29101208: 29101208
26DSPNM_004415.3(DSP): c.4531C> T (p.Gln1511Ter)SNVLikely pathogenic, Pathogenicrs397516940GRCh37Chr 6, 7580954: 7580954
27DSPNM_004415.3(DSP): c.478C> T (p.Arg160Ter)SNVLikely pathogenic, Pathogenicrs397516943GRCh37Chr 6, 7559514: 7559514
28PKP2NM_004572.3(PKP2): c.1132C> T (p.Gln378Ter)SNVLikely pathogenic, Pathogenicrs397516986GRCh37Chr 12, 33021899: 33021899
29PKP2NM_004572.3(PKP2): c.1170+2T> ASNVLikely pathogenic, Pathogenicrs397516987GRCh37Chr 12, 33021859: 33021859
30PKP2NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter)SNVLikely pathogenic, Pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
31PKP2NM_004572.3(PKP2): c.1378+1G> CSNVLikely pathogenic, Pathogenicrs397516994GRCh37Chr 12, 33003699: 33003699
32PKP2NM_004572.3(PKP2): c.14delG (p.Gly5Alafs)deletionLikely pathogenic, Pathogenicrs397516996GRCh37Chr 12, 33049652: 33049652
33PKP2NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs)deletionLikely pathogenic, Pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
34PKP2NM_004572.3(PKP2): c.1688+1G> ASNVLikely pathogenic, Pathogenicrs397517003GRCh37Chr 12, 32993961: 32993961
35PKP2NM_004572.3(PKP2): c.1760delT (p.Val587Alafs)deletionLikely pathogenic, Pathogenicrs397517009GRCh37Chr 12, 32977025: 32977025
36PKP2NM_004572.3(PKP2): c.1821dupT (p.Val608Cysfs)duplicationLikely pathogenic, Pathogenicrs397517010GRCh37Chr 12, 32975551: 32975551
37PKP2NM_004572.3(PKP2): c.1912C> T (p.Gln638Ter)SNVPathogenicrs397517012GRCh37Chr 12, 32975460: 32975460
38PKP2NM_004572.3(PKP2): c.1999G> T (p.Glu667Ter)SNVPathogenicrs397517015GRCh37Chr 12, 32974436: 32974436
39PKP2NM_004572.3(PKP2): c.2197_2202delCACACCinsG (p.His733Alafs)indelPathogenicrs397517021GRCh37Chr 12, 32955434: 32955439
40PKP2NM_004572.3(PKP2): c.2489+1G> TSNVLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
41DSC2NM_024422.4(DSC2): c.846C> G (p.Tyr282Ter)SNVLikely pathogenic, Pathogenicrs397517406GRCh37Chr 18, 28666635: 28666635
42PKP2NM_004572.3(PKP2): c.235C> T (p.Arg79Ter)SNVPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
43PKP2NM_004572.3(PKP2): c.2203C> T (p.Arg735Ter)SNVLikely pathogenic, Pathogenicrs121434421GRCh37Chr 12, 32955433: 32955433
44PKP2NM_004572.3(PKP2): c.2146-1G> CSNVLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
45PKP2NM_004572.3(PKP2): c.2489+1G> ASNVLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
46TMEM43NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu)SNVPathogenicrs63750743GRCh37Chr 3, 14183165: 14183165

Copy number variations for Arrhythmogenic Right Ventricular Cardiomyopathy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1298281236600000243700000GainRYR2Arrhythmogenic right ventricular cardiomyopathy

Expression for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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Pathways related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.9DES, DSP, PKP2
29.8CTNNB1, GJA1, JUP
39.8CDH2, CTNNB1, GJA1
49.7ACTN2, CTNNA3, CTNNB1
59.6CDH2, CTNNA3, CTNNB1, JUP
69.5CDH2, DES, GJA1, TGFB3
7
Show member pathways
9.5CTNNA3, CTNNB1, JUP, TGFB3
89.5CDH2, CTNNB1, RYR1, RYR2
99.5DSP, GJA1, JUP, LMNA, RYR2
109.5DES, DSG2, GJA1, JUP, LMNA
119.4CDH2, CTNNB1, DSP, GJA1, JUP
129.3ACTN2, CDH2, CTNNA3, CTNNB1, JUP
139.3ACTN2, DES, DMD, TTN
14
Show member pathways
9.0ACTN2, CDH2, CTNNA3, CTNNB1, JUP, TGFB3
158.9ACTN2, CDH2, CTNNA3, CTNNB1, DSP, GJA1
16
Show member pathways
8.8ACTN2, DES, DMD, RYR1, RYR2, TTN

GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

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Cellular components related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1junctional sarcoplasmic reticulum membraneGO:001470110.7RYR1, RYR2
2contractile fiberGO:004329210.6DES, GJA1
3catenin complexGO:001634210.4CDH2, CTNNB1, JUP
4adherens junctionGO:000591210.2CDH2, CTNNA3, CTNNB1, PKP2
5intermediate filamentGO:000588210.1DES, DSP, GJA1, JUP, PKP2
6extracellular matrixGO:003101210.0DSP, JUP, LMNA, TGFB3
7desmosomeGO:00300579.7DSC2, DSG2, DSP, JUP, PKP2
8cytoskeletonGO:00058569.6ACTN2, CTNNA3, DES, DMD, JUP
9cell-cell junctionGO:00059119.6CDH2, CTNNB1, DSG2, DSP, GJA1, JUP
10focal adhesionGO:00059259.6ACTN2, CDH2, CTNNB1, GJA1, JUP
11fascia adherensGO:00059169.6CDH2, CTNNA3, CTNNB1, DES, DSP, GJA1
12cell-cell adherens junctionGO:00059139.1BAG3, CDH2, CTNNB1, DSC2, JUP, PKP2
13lateral plasma membraneGO:00163289.1CTNNB1, DMD, DSG2, GJA1, JUP
14intercalated discGO:00147048.9CDH2, CTNNB1, DES, DSC2, DSG2, DSP
15Z discGO:00300188.7ACTN2, BAG3, CTNNB1, DES, DMD, JUP
16extracellular exosomeGO:00700627.8ACTN2, CDH2, CTNNB1, DES, DSC2, DSG2
17plasma membraneGO:00058867.2ACTN2, BAG3, CDH2, CTNNB1, DMD, DSC2

Biological processes related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:000215910.8JUP, PKP2
2desmosome organizationGO:000293410.8DSG2, DSP
3regulation of bicellular tight junction assemblyGO:200081010.8GJA1, PKP2
4ventricular cardiac muscle cell action potentialGO:008600510.7PKP2, RYR2
5gap junction assemblyGO:001626410.6GJA1, PKP2
6cellular response to caffeineGO:007131310.6RYR1, RYR2
7release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.6RYR1, RYR2
8cell communication by electrical coupling involved in cardiac conductionGO:008606410.5GJA1, PKP2, RYR2
9cellular response to indole-3-methanolGO:007168110.5CTNNB1, JUP
10adherens junction assemblyGO:003433310.5CTNNB1, JUP
11cardiac muscle hypertrophyGO:000330010.4RYR2, TTN
12regulation of myelinationGO:003164110.4CDH2, CTNNB1
13intermediate filament organizationGO:004510910.3DES, DSP
14regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:001088110.3DMD, RYR2
15cardiac muscle cell action potentialGO:008600110.3DMD, PKP2
16response to muscle stretchGO:003599410.3DMD, RYR2
17protein heterooligomerizationGO:005129110.3CDH2, CTNNB1, JUP
18establishment of protein localization to plasma membraneGO:009000210.2ACTN2, CDH2, JUP, PKP2
19response to caffeineGO:003100010.2RYR1, RYR2
20positive regulation of osteoblast differentiationGO:004566910.2CTNNB1, GJA1, LMNA
21cellular response to mechanical stimulusGO:007126010.1BAG3, CTNNB1, GJA1
22adherens junction organizationGO:003433210.1CDH2, CTNNB1, DSP, JUP
23platelet degranulationGO:000257610.0ACTN2, TGFB3, TTN
24skin developmentGO:00435889.9CTNNB1, DSP, JUP, RYR1
25cardiac muscle contractionGO:00600489.8DMD, RYR2, TTN
26single organismal cell-cell adhesionGO:00163379.8CTNNA3, CTNNB1, DSP, JUP, PKP2
27regulation of heart rateGO:00020279.8DMD, GJA1, RYR2
28muscle filament slidingGO:00300499.6ACTN2, DES, DMD, TTN
29bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.5CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
30muscle contractionGO:00069369.2ACTN2, DES, GJA1, RYR1, TTN
31cell adhesionGO:00071559.2ACTN2, CDH2, CTNNB1, DSC2, DSG2, JUP
32regulation of ventricular cardiac muscle cell action potentialGO:00989119.1CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
33regulation of heart rate by cardiac conductionGO:00860919.1CTNNA3, DSC2, DSG2, DSP, JUP, PKP2

Molecular functions related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1ryanodine-sensitive calcium-release channel activityGO:000521910.7RYR1, RYR2
2calcium-release channel activityGO:001527810.7RYR1, RYR2
3cell adhesion molecule bindingGO:005083910.6DSG2, DSP, JUP
4cadherin bindingGO:004529610.4CTNNA3, CTNNB1, JUP
5protein phosphatase bindingGO:001990310.4CDH2, CTNNB1, JUP
6structural constituent of cytoskeletonGO:000520010.3DES, DMD, DSP
7alpha-catenin bindingGO:004529410.3CDH2, CTNNB1, JUP, PKP2
8protein self-associationGO:004362110.2RYR2, TMEM43, TTN
9nitric-oxide synthase bindingGO:005099810.2CDH2, CTNNB1, DMD
10ion channel bindingGO:004432510.1ACTN2, CTNNB1, PKP2, RYR2
11cadherin binding involved in cell-cell adhesionGO:009864110.0BAG3, CTNNB1, JUP, PKP2
12structural constituent of muscleGO:000830710.0ACTN2, DMD, TTN
13protein complex bindingGO:00324039.8BAG3, CDH2, CTNNB1, DMD
14protein kinase bindingGO:00199019.5CDH2, CTNNB1, JUP, RYR2, TTN
15cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860839.5CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
16enzyme bindingGO:00198999.3CDH2, CTNNB1, RYR1, RYR2, TTN
17calcium ion bindingGO:00055098.4ACTN2, CALR3, CDH2, DSC2, DSG2, RYR1
18protein bindingGO:00055155.8ACTN2, BAG3, CALR3, CDH2, CTNNA3, CTNNB1

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet