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 48 24 25 27 13
Arrhythmogenic Right Ventricular Dysplasia 11 23 48 24 25 50 39 68
Arvc 11 23 48 24 25
Arvd 11 23 48 24 25
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 11 23 24 25
 
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 25 27
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
MeSH39 D019571
NCIt45 C84571

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

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NIH Rare Diseases:48 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 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.

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.

Wikipedia:71 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 & Phenotypes for Arrhythmogenic Right Ventricular Cardiomyopathy

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MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy according to GeneCards Suite gene sharing:

41 (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

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 Cardiomyopathy27
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy27 24 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

36
Heart, Testes, Pancreas, Brain

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
Soluble ST2 is associated with disease severity in arrhythmogenic right ventricular cardiomyopathy. (28067540)
2017
3
Lethal heart failure with anti-mitochondrial antibody: an arrhythmogenic right ventricular cardiomyopathy mimetic. (27651439)
2016
4
Right Ventricular Imaging and Computer Simulation for Electromechanical Substrate Characterization in Arrhythmogenic Right Ventricular Cardiomyopathy. (27855808)
2016
5
Atrial Remodeling and Atrial Tachyarrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy. (27378141)
2016
6
Utility of speckle tracking echocardiography imaging in patients with asymptomatic and symptomatic arrhythmogenic right ventricular cardiomyopathy. (27599902)
2016
7
Evaluation of Tp-e Interval, Tp-e/QT Ratio, and Tp-e/QTc Ratio in Patients with Asymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy. (27610610)
2016
8
Survival after Heart Transplantation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. (27154489)
2016
9
Arrhythmogenic Right Ventricular Cardiomyopathy: Clinical Course and Predictors of Arrhythmic Risk. (27931611)
2016
10
Unusual Serial Electrocardiographic Changes which Progressed to Arrhythmogenic Right Ventricular Cardiomyopathy. (27150862)
2016
11
New Features of Electrocardiogram in a Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy: A Care-Compliant Article. (27100441)
2016
12
Profiling of differentially expressed microRNAs in arrhythmogenic right ventricular cardiomyopathy. (27307080)
2016
13
MY APPROCH to the Diagnosis and Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D)(a88). (27553816)
2016
14
Electrocardiographic differentiation of idiopathic right ventricular outflow tract ectopy from early arrhythmogenic right ventricular cardiomyopathy. (27338494)
2016
15
Whole-exome sequencing identifies a novel mutation of DSG2 (Y198C) in a Chinese arrhythmogenic right ventricular cardiomyopathy patient. (27055156)
2016
16
Response to Letter Regarding Article, "Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement". (26976921)
2016
17
Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy. (27531918)
2016
18
Quantitative analysis of PKP2 and neighbouring genes in a patient with arrhythmogenic right ventricular cardiomyopathy caused by heterozygous PKP2 deletion. (27009185)
2016
19
Successful epicardial ablation of ventricular tachycardia in a patient with arrhythmogenic right ventricular cardiomyopathy. (26970960)
2016
20
Arrhythmogenic right ventricular cardiomyopathy: implications of next-generation sequencing in appropriate diagnosis. (27194543)
2016
21
Exome sequencing in arrhythmogenic right ventricular cardiomyopathy: a new diagnostic tool? (27256415)
2016
22
Exercise testing for long-term follow-up in arrhythmogenic right ventricular cardiomyopathy. (28012557)
2016
23
The Canadian Arrhythmogenic Right Ventricular Cardiomyopathy Registry: Rationale, Design, and Preliminary Recruitment. (27474350)
2016
24
Relationship Between Arrhythmogenic Right Ventricular Cardiomyopathy and Brugada Syndrome: New Insights From Molecular Biology and Clinical Implications. (26987567)
2016
25
Evolution of the electrocardiogram in a patient with arrhythmogenic right ventricular cardiomyopathy. (27712909)
2016
26
Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant. (27335691)
2016
27
Clinical Profile of Arrhythmogenic Right Ventricular Cardiomyopathy With Left Ventricular Involvement. (27402491)
2016
28
Catheter ablation reduces ventricular tachycardia burden in patients with arrhythmogenic right ventricular cardiomyopathy: insights from a north-western French multicentre registry. (28017936)
2016
29
Massive Right Atrial Thrombus Formation Followed by an Atrial Flutter with 1:1 Atrioventricular Conduction in a Patient with Arrhythmogenic Right Ventricular Cardiomyopathy. (27522997)
2016
30
Structural and molecular pathology ofA theA atrium in boxer arrhythmogenic right ventricular cardiomyopathy. (27769725)
2016
31
The genetic background of arrhythmogenic right ventricular cardiomyopathy. (27761164)
2016
32
Fat in the right heart: the role of cardiac magnetic resonance imaging in differentiating diffuse lipomatous hypertrophy of the right ventricle from arrhythmogenic right ventricular cardiomyopathy. (27160111)
2016
33
Arrhythmogenic Right Ventricular Cardiomyopathy: Risk Stratification and Indications for Defibrillator Therapy. (27147509)
2016
34
Use of flecainide in combination antiarrhythmic therapy in patients with arrhythmogenic right ventricular cardiomyopathy. (27939893)
2016
35
Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing. (26990921)
2016
36
Usefulness of Combined Functional Assessment by Cardiac Magnetic Resonance and Tissue Characterization Versus Task Force Criteria for Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy. (27825581)
2016
37
Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies. (26917049)
2016
38
Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy. (26966288)
2016
39
Stratified analysis using three-dimensional fusion imaging of delayed-enhancement magnetic resonance and 128-slice multi-detector computed tomography to identify an epicardial focus of ventricular tachycardia in a patient with arrhythmogenic right ventricular cardiomyopathy. (27325810)
2016
40
Left Ventricular Function in Children and Adolescents With Arrhythmogenic Right Ventricular Cardiomyopathy. (28040191)
2016
41
Electrocardiographic morphology in right precordial T waves in arrhythmogenic right ventricular cardiomyopathy. (27074197)
2016
42
Electrical storm might be the initial presentation of arrhythmogenic right ventricular cardiomyopathy. (27067562)
2016
43
Arrhythmogenic Right Ventricular Cardiomyopathy: Better Tools for Detecting Early Disease and Progression. (27855809)
2016
44
Arrhythmogenic right ventricular cardiomyopathy: ECG progression over time and correlation with long-term follow-up. (27119598)
2016
45
Cardiac Sarcoidosis and Arrhythmogenic Right Ventricular Cardiomyopathy -Potential Differential Diagnoses for Arrhythmogenic Ventricular Cardiomyopathy. (27150851)
2016
46
LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis. (27405450)
2016
47
Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking. (26676851)
2016
48
The ventricular ectopic QRS interval (VEQSI): Diagnosis of arrhythmogenic right ventricular cardiomyopathy in patients with incomplete disease expression. (27016477)
2016
49
Management of arrhythmogenic right ventricular cardiomyopathy. (27186923)
2016
50
Letter by Barison et al Regarding Article, "Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement". (26976920)
2016

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
1contractile fiberGO:004329210.9DES, GJA1
2junctional sarcoplasmic reticulum membraneGO:001470110.7RYR1, RYR2
3catenin complexGO:001634210.6CDH2, CTNNB1, JUP
4adherens junctionGO:000591210.4CDH2, CTNNA3, CTNNB1, PKP2
5desmosomeGO:003005710.4DSC2, DSG2, DSP, JUP, PKP2
6extracellular matrixGO:003101210.4DSP, JUP, LMNA, TGFB3
7intermediate filamentGO:000588210.3DES, DSP, GJA1, JUP, PKP2
8lateral plasma membraneGO:001632810.2CTNNB1, DMD, DSG2, GJA1, JUP
9cytoskeletonGO:000585610.1ACTN2, CTNNA3, DES, DMD, JUP
10focal adhesionGO:000592510.1ACTN2, CDH2, CTNNB1, GJA1, JUP
11cell-cell adherens junctionGO:000591310.0BAG3, CDH2, CTNNB1, DSC2, JUP, PKP2
12cell-cell junctionGO:00059119.9CDH2, CTNNB1, DSG2, DSP, GJA1, JUP
13fascia adherensGO:00059169.8CDH2, CTNNA3, CTNNB1, DES, DSP, GJA1
14intercalated discGO:00147049.5CDH2, CTNNB1, DES, DSC2, DSG2, DSP
15extracellular exosomeGO:00700628.5ACTN2, CDH2, CTNNB1, DES, DSC2, DSG2
16Z discGO:00300188.3ACTN2, BAG3, CTNNB1, DES, DMD, JUP
17plasma membraneGO:00058867.8ACTN2, 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 organizationGO:000293410.8DSG2, DSP
2desmosome assemblyGO:000215910.8JUP, PKP2
3gap junction assemblyGO:001626410.8GJA1, PKP2
4intermediate filament organizationGO:004510910.8DES, DSP
5adherens junction assemblyGO:003433310.8CTNNB1, JUP
6cardiac muscle cell action potentialGO:008600110.8DMD, PKP2
7cellular response to indole-3-methanolGO:007168110.7CTNNB1, JUP
8regulation of bicellular tight junction assemblyGO:200081010.7GJA1, PKP2
9cellular response to caffeineGO:007131310.7RYR1, RYR2
10regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:001088110.6DMD, RYR2
11cell communication by electrical coupling involved in cardiac conductionGO:008606410.6GJA1, PKP2, RYR2
12regulation of myelinationGO:003164110.6CDH2, CTNNB1
13cardiac muscle hypertrophyGO:000330010.6RYR2, TTN
14response to muscle stretchGO:003599410.6DMD, RYR2
15release of sequestered calcium ion into cytosol by sarcoplasmic reticulumGO:001480810.5RYR1, RYR2
16response to caffeineGO:003100010.5RYR1, RYR2
17protein heterooligomerizationGO:005129110.4CDH2, CTNNB1, JUP
18regulation of heart rateGO:000202710.4DMD, GJA1, RYR2
19positive regulation of osteoblast differentiationGO:004566910.4CTNNB1, GJA1, LMNA
20adherens junction organizationGO:003433210.4CDH2, CTNNB1, DSP, JUP
21cellular response to mechanical stimulusGO:007126010.4BAG3, CTNNB1, GJA1
22cardiac muscle contractionGO:006004810.3DMD, RYR2, TTN
23establishment of protein localization to plasma membraneGO:009000210.3ACTN2, CDH2, JUP, PKP2
24platelet degranulationGO:000257610.1ACTN2, TGFB3, TTN
25ventricular cardiac muscle cell action potentialGO:008600510.1PKP2, RYR2
26bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:008607310.1CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
27regulation of heart rate by cardiac conductionGO:008609110.0CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
28muscle filament slidingGO:003004910.0ACTN2, DES, DMD, TTN
29single organismal cell-cell adhesionGO:001633710.0CTNNA3, CTNNB1, DSP, JUP, PKP2
30cell adhesionGO:00071559.9ACTN2, CDH2, CTNNB1, DSC2, DSG2, JUP
31skin developmentGO:00435889.9CTNNB1, DSP, JUP, RYR1
32regulation of ventricular cardiac muscle cell action potentialGO:00989119.8CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
33muscle contractionGO:00069369.7ACTN2, DES, GJA1, RYR1, TTN

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1calcium-release channel activityGO:001527810.8RYR1, RYR2
2cell adhesion molecule bindingGO:005083910.8DSG2, DSP, JUP
3cadherin bindingGO:004529610.7CTNNA3, CTNNB1, JUP
4nitric-oxide synthase bindingGO:005099810.6CDH2, CTNNB1, DMD
5ryanodine-sensitive calcium-release channel activityGO:000521910.5RYR1, RYR2
6alpha-catenin bindingGO:004529410.5CDH2, CTNNB1, JUP, PKP2
7ion channel bindingGO:004432510.4ACTN2, CTNNB1, PKP2, RYR2
8protein phosphatase bindingGO:001990310.4CDH2, CTNNB1, JUP
9cadherin binding involved in cell-cell adhesionGO:009864110.4BAG3, CTNNB1, JUP, PKP2
10protein self-associationGO:004362110.3RYR2, TMEM43, TTN
11structural constituent of cytoskeletonGO:000520010.3DES, DMD, DSP
12cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:008608310.2CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
13protein complex bindingGO:003240310.1BAG3, CDH2, CTNNB1, DMD
14enzyme bindingGO:00198999.9CDH2, CTNNB1, RYR1, RYR2, TTN
15protein kinase bindingGO:00199019.8CDH2, CTNNB1, JUP, RYR2, TTN
16structural constituent of muscleGO:00083079.5ACTN2, DMD, TTN
17calcium ion bindingGO:00055099.1ACTN2, CALR3, CDH2, DSC2, DSG2, RYR1
18protein bindingGO:00055156.5ACTN2, BAG3, CALR3, CDH2, CTNNA3, CTNNB1

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet