MCID: ARR042
MIFTS: 55

Arrhythmogenic Right Ventricular Cardiomyopathy malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

Aliases & Descriptions for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 11 22 46 23 24 13 25
Arrhythmogenic Right Ventricular Dysplasia 11 22 46 23 24 48 37 66
Arvc 11 22 46 23 24
Arvd 11 22 46 23 24
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 11 22 23 24
 
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 24 25
Ventricular Dysplasia, Right, Arrhythmogenic 24
Right Ventricular Dysplasia, Arrhythmogenic 24
Arvc Cardiomyopathy 11
Arvd/c 24

Classifications:



External Ids:

Disease Ontology11 DOID:0050431
MeSH37 D019571
NCIt43 C84571

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section
NIH Rare Diseases:46 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 craniofacial and embryo.

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:24 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:69 Arrhythmogenic right ventricular dysplasia (ARVD) is an inherited heart disease. more...

GeneReviews summary for NBK1131

Related Diseases for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

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

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1arrhythmogenic right ventricular dysplasia 833.1DSP, JUP
2ectodermal dysplasia28.0DES, DMD, DSP, KCNH2, LMNA, RYR2
3arrhythmogenic right ventricular dysplasia/cardiomyopathy 112.4
4arrhythmogenic right ventricular dysplasia/cardiomyopathy 212.4
5arrhythmogenic right ventricular dysplasia/cardiomyopathy 312.4
6arrhythmogenic right ventricular dysplasia/cardiomyopathy 412.4
7arrhythmogenic right ventricular dysplasia/cardiomyopathy 512.4
8arrhythmogenic right ventricular dysplasia/cardiomyopathy 612.4
9arrhythmogenic right ventricular dysplasia/cardiomyopathy 712.4
10arrhythmogenic right ventricular dysplasia/cardiomyopathy 812.4
11arrhythmogenic right ventricular dysplasia/cardiomyopathy 912.4
12naxos disease11.9
13arrhythmogenic right ventricular dysplasia, familial, 1311.6
14myopathy, myofibrillar, 111.5
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/cardiomyopathy1311.3
23familial isolated arrhythmogenic right ventricular dysplasia11.3
24cardiomyopathy11.2
25dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis10.7DSP, JUP
26growth hormone deficiency10.7DSP, JUP
27ventricular tachycardia, catecholaminergic polymorphic, 110.6DSG2, RYR2
28codas syndrome10.6DSC2, DSP, JUP
29ectodermal dysplasia/skin fragility syndrome10.6DSC2, DSP, JUP
30lipoma10.6DSC2, DSP, JUP
31cirrhotic cardiomyopathy10.6DSC2, DSG2, DSP
32sed, maroteaux type10.6DSC2, DSP, JUP
33d ercole syndrome10.5DES, DMD
34right bundle branch block10.4
35cardiac sarcoidosis10.4
36klippel-feil syndrome 210.4DSC2, DSP, JUP, PKP2
37emery-dreifuss muscular dystrophy 2, ad10.4LMNA, TMEM43
38brugada syndrome10.3
39epilepsy, generalized, with febrile seizures plus, type 110.3DES, DMD, RYR2
40tetralogy of fallot10.3
41palmoplantar keratoderma and woolly hair10.3
42myopathy10.3
43myocarditis10.3
44myofibrillar myopathy10.3
45odontoclasia10.2DES, LMNA, TMEM43
46dilated cardiomyopathy10.2
47myostatin-related muscle hypertrophy10.1DES, DMD
48occupational dermatitis10.1DES, DMD, TTN
49protein-losing enteropathy10.0
50hypertrophic cardiomyopathy10.0

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

About this section

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1diureticsPhase 31338
2
SpironolactonePhase 32171952-01-7, 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
3
EplerenonePhase 392107724-20-9150310, 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
4
FlecainidePhase 1, Phase 24154143-55-43356
Synonyms:
(+-)-Flecainide
54143-55-4
54143-56-5 (monoacetate)
99495-87-1
AB00513907
AC-16019
AC1L1FQZ
BCBcMAP01_000189
BPBio1_000760
BRD-A09472452-001-02-8
BRD-A09472452-015-03-6
BSPBio_000690
BSPBio_001317
Bio1_000375
Bio1_000864
Bio1_001353
Bio2_000037
Bio2_000517
C07001
C17H20F6N2O3
CCRIS 313
CHEBI:127588
CHEMBL652
CID3356
D07962
DB01195
Flecaine
Flecainida
Flecainida [INN-Spanish]
Flecainide (INN)
Flecainide [INN:BAN]
Flecainide acetate
Flecainidum
 
Flecainidum [INN-Latin]
HMS1791B19
HMS1989B19
HMS2089E17
IDI1_033787
KBio2_000037
KBio2_002605
KBio2_005173
KBio3_000073
KBio3_000074
KBioGR_000037
KBioSS_000037
LS-27388
Lopac0_000546
MolPort-003-847-380
N-(2-Piperidinylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis(2,2,2-trifluoroethoxy)benzamide
N-(piperidin-2-ylmethyl)-2,5-bis[(2,2,2-trifluoroethyl)oxy]benzamide
NCGC00025175-03
NCGC00025175-04
NCGC00025175-05
NCGC00025175-06
NSC719273
Prestwick0_000735
Prestwick1_000735
Prestwick2_000735
Prestwick3_000735
R818
SMP1_000074
SPBio_002629
TL80090300
Tambocor
UNII-K94FTS1806
flecainide
5
isoproterenol197683-59-23779
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

Interventional clinical trials:

(show all 16)
idNameStatusNCT IDPhase
1Registry of Unexplained Cardiac ArrestRecruitingNCT00292032Phase 3
2PHOspholamban RElated CArdiomyopathy STudy - InterventionRecruitingNCT01857856Phase 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
5Arrhythmogenic Right Ventricular Dysplasia/CardiomyopathyCompletedNCT00999947
6Multidisciplinary Study of Right Ventricular DysplasiaCompletedNCT00024505
7The Role of High Density Surface ECG in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)CompletedNCT02291393
8Isoproterenol Challenge to Detect Arrhythmogenic Right Ventricular CardiomyopathyCompletedNCT00083395
9Molecular Genetic Screening and Identification of Congenital Arrhythmogenic DiseasesRecruitingNCT00221832
10Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
11German Centre for Cardiovascular Research Cardiomyopathy RegisterRecruitingNCT02187263
12Endo- and Epicardial vs. Endocardial Ablation of Ventricular Tachycardia in Patients With Cardiac DiseaseRecruitingNCT01767220
13Comparison Between Standard and Ultrasound Integrated Approach for Risk Stratification of Syncope in the Emergency DepartmentRecruitingNCT02781207
14T1 Mapping of Diffuse Myocardial Fibrosis in Congenital Heart DiseaseRecruitingNCT02350829
15Canadian National ARVC RegistryEnrolling by invitationNCT01804699
16Prolonged 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

About this section

Genetic tests related to Arrhythmogenic Right Ventricular Cardiomyopathy:

id Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy25
2 Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy25 23 TMEM43

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

34
Heart, Testes, Pancreas, Brain

Animal Models for Arrhythmogenic Right Ventricular Cardiomyopathy or affiliated genes

About this section

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.3CTNNB1, DSP, GJA1, KCNH2, LMNA, TGFB3
2MP:00053807.7CDH2, CTNNB1, DSP, GJA1, JUP, KCNH2
3MP:00053847.3CDH2, CTNNB1, DES, DMD, DSG2, DSP
4MP:00053696.8CDH2, CTNNA3, CTNNB1, DES, DMD, DSP
5MP:00053766.6CDH2, CTNNB1, DES, DMD, GJA1, JUP
6MP:00053786.5CDH2, CTNNB1, DMD, DSP, GJA1, JUP
7MP:00053856.0CDH2, CTNNA3, CTNNB1, DES, DMD, DSP
8MP:00107685.9CDH2, CTNNA3, CTNNB1, DES, DMD, DSG2

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50)    (show all 230)
idTitleAuthorsYear
1
Lethal heart failure with anti-mitochondrial antibody: an arrhythmogenic right ventricular cardiomyopathy mimetic. (27651439)
2016
2
Atrial Remodeling and Atrial Tachyarrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy. (27378141)
2016
3
Utility of speckle tracking echocardiography imaging in patients with asymptomatic and symptomatic arrhythmogenic right ventricular cardiomyopathy. (27599902)
2016
4
Evaluation of Tp-e Interval, Tp-e/QT Ratio, and Tp-e/QTc Ratio in Patients with Asymptomatic Arrhythmogenic Right Ventricular Cardiomyopathy. (27610610)
2016
5
Survival after Heart Transplantation in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. (27154489)
2016
6
Unusual Serial Electrocardiographic Changes which Progressed to Arrhythmogenic Right Ventricular Cardiomyopathy. (27150862)
2016
7
New Features of Electrocardiogram in a Case Report of Arrhythmogenic Right Ventricular Cardiomyopathy: A Care-Compliant Article. (27100441)
2016
8
Profiling of differentially expressed microRNAs in arrhythmogenic right ventricular cardiomyopathy. (27307080)
2016
9
MY APPROCH to the Diagnosis and Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D)(a88). (27553816)
2016
10
Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis. (26498164)
2015
11
Comparison of radionuclide angiographic synchrony analysis to echocardiography and magnetic resonance imaging for the diagnosis of arrhythmogenic right ventricular cardiomyopathy. (25744613)
2015
12
Arrhythmogenic right ventricular cardiomyopathy in monozygotic twin sisters, and persistent left superior vena cava in one complicating implantation of ICD. (26536991)
2015
13
Plakoglobin: a diagnostic marker of arrhythmogenic right ventricular cardiomyopathy in forensic pathology? (25549959)
2015
14
A unique case of systemic thromboembolism in a patient with arrhythmogenic right ventricular cardiomyopathy. (25848377)
2015
15
Long-Term Outcome with Catheter Ablation of Ventricular Tachycardia in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy. (26546346)
2015
16
Right Ventricular Strain and Dyssynchrony Assessment in Arrhythmogenic Right Ventricular Cardiomyopathy: Cardiac Magnetic Resonance Feature-Tracking Study. (26534932)
2015
17
Electrocardiographic features of disease progression in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (25599583)
2015
18
iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death. (25691752)
2015
19
Epsilon wave uncovered by exercise test in a patient with desmoplakin-positive arrhythmogenic right ventricular cardiomyopathy. (25936878)
2015
20
Arrhythmogenic right ventricular cardiomyopathy with left ventricular involvement: a novel splice site mutation in the DSG2 gene. (25660657)
2015
21
Cardiac MR Findings and Potential Diagnostic Pitfalls in Patients Evaluated for Arrhythmogenic Right Ventricular Cardiomyopathy. (25310417)
2014
22
Fulminant variant of Loeffler disease mimicking arrhythmogenic right ventricular cardiomyopathy in the course of enterobiasis. (25246480)
2014
23
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. (25157032)
2014
24
Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy. (25398255)
2014
25
Successful Obstetric Management of Arrhythmogenic Right Ventricular Cardiomyopathy. (25402595)
2014
26
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
27
Clinical usefulness of immunohistochemistry for plakoglobin, N-cadherin, and connexin-43 in the diagnosis of arrhythmogenic right ventricular cardiomyopathy. (24294380)
2013
28
Mutations in the area composita protein I+T-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. (23136403)
2013
29
Arrhythmogenic right ventricular cardiomyopathy/dysplasia and troponin release. Myocarditis or the "hot phase" of the disease? (21962611)
2012
30
Special features of right bundle branch block in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. (22036093)
2012
31
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. (22820313)
2012
32
Cardiac sarcoidosis masquerading as arrhythmogenic right ventricular cardiomyopathy. (21937273)
2012
33
A case of arrhythmogenic right ventricular cardiomyopathy-Naxos disease. (22572432)
2012
34
Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study. (22240500)
2012
35
Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (19863551)
2010
36
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. (20152563)
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

About this section

Clinvar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1DSG2NM_001943.4(DSG2): c.146G> A (p.Arg49His)single nucleotide variantLikely pathogenic, Pathogenicrs121913006GRCh37Chr 18, 29099830: 29099830
2DSG2NM_001943.4(DSG2): c.137G> A (p.Arg46Gln)single nucleotide variantLikely pathogenic, Pathogenicrs121913008GRCh37Chr 18, 29099821: 29099821
3DSG2NM_001943.4(DSG2): c.1880-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs397514038GRCh37Chr 18, 29121154: 29121154
4DSG2NM_001943.4(DSG2): c.166G> A (p.Val56Met)single nucleotide variantPathogenic, risk factorrs121913013GRCh37Chr 18, 29099850: 29099850
5DSC2NM_024422.4(DSC2): c.631-2A> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs397514042GRCh37Chr 18, 28667778: 28667778
6PKP2NM_004572.3(PKP2): c.1643delG (p.Gly548Valfs)deletionLikely pathogenic, Pathogenicrs794729137GRCh38Chr 12, 32841073: 32841073
7CALR3NM_145046.4(CALR3): c.245A> G (p.Lys82Arg)single nucleotide variantPathogenicrs142951029GRCh37Chr 19, 16601330: 16601330
8DSG2NM_001943.4(DSG2): c.523+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs397516709GRCh37Chr 18, 29101208: 29101208
9PKP2NM_004572.3(PKP2): c.1132C> T (p.Gln378Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397516986GRCh37Chr 12, 33021899: 33021899
10PKP2NM_004572.3(PKP2): c.1237C> T (p.Arg413Ter)single nucleotide variantLikely pathogenic, Pathogenicrs372827156GRCh37Chr 12, 33003841: 33003841
11PKP2NM_004572.3(PKP2): c.148_151delACAG (p.Thr50Serfs)deletionLikely pathogenic, Pathogenicrs397516997GRCh37Chr 12, 33049515: 33049518
12PKP2NM_004572.3(PKP2): c.1912C> T (p.Gln638Ter)single nucleotide variantPathogenicrs397517012GRCh37Chr 12, 32975460: 32975460
13PKP2NM_004572.3(PKP2): c.2197_2202delCACACCinsG (p.His733Alafs)indelPathogenicrs397517021GRCh37Chr 12, 32955434: 32955439
14KCNH2NM_000238.3(KCNH2): c.3133C> T (p.Leu1045Phe)single nucleotide variantPathogenicrs199473025GRCh37Chr 7, 150644435: 150644435
15PKP2NM_004572.3(PKP2): c.235C> T (p.Arg79Ter)single nucleotide variantPathogenicrs121434420GRCh37Chr 12, 33031955: 33031955
16PKP2NM_004572.3(PKP2): c.2146-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs193922674GRCh37Chr 12, 32955491: 32955491
17PKP2NM_004572.3(PKP2): c.2489+1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs111517471GRCh37Chr 12, 32949042: 32949042
18TMEM43NM_024334.2(TMEM43): c.1073C> T (p.Ser358Leu)single nucleotide variantPathogenicrs63750743GRCh37Chr 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

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

Pathways for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

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

(show all 17)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.8DES, DSP, PKP2
29.7CTNNB1, GJA1, JUP
39.6CDH2, CTNNB1, GJA1
49.6ACTN2, CTNNA3, CTNNB1
59.4CDH2, CTNNA3, CTNNB1, JUP
69.3DES, DSG2, GJA1, JUP, LMNA
79.3CDH2, DES, GJA1, TGFB3
89.3CTNNB1, GJA1, KCNH2, RYR2
9
Show member pathways
9.2CTNNA3, CTNNB1, JUP, TGFB3
109.2CDH2, CTNNB1, DSP, GJA1, JUP
119.1ACTN2, CDH2, CTNNA3, CTNNB1, JUP
128.9ACTN2, DES, DMD, TTN
138.8DSP, GJA1, JUP, KCNH2, LMNA, RYR2
14
Show member pathways
8.6ACTN2, CDH2, CTNNA3, CTNNB1, JUP, TGFB3
158.6ACTN2, CDH2, CTNNA3, CTNNB1, DSP, GJA1
16
Show member pathways
8.3ACTN2, DES, DMD, KCNH2, RYR2, TTN
17
Show member pathways
5.8ACTN2, CDH2, CTNNA3, CTNNB1, DES, DMD

GO Terms for genes affiliated with Arrhythmogenic Right Ventricular Cardiomyopathy

About this section

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1contractile fiberGO:004329210.6DES, GJA1
2catenin complexGO:001634210.3CDH2, CTNNB1, JUP
3adherens junctionGO:000591210.0CDH2, CTNNA3, CTNNB1, PKP2
4intermediate filamentGO:00058829.9DES, DSP, GJA1, JUP, PKP2
5desmosomeGO:00300579.8DSC2, DSG2, DSP, JUP, PKP2
6extracellular matrixGO:00310129.7DSP, JUP, LMNA, TGFB3
7cell-cell adherens junctionGO:00059139.6CDH2, CTNNB1, DSC2, JUP, PKP2
8focal adhesionGO:00059259.5ACTN2, CDH2, CTNNB1, GJA1, JUP
9cytoskeletonGO:00058569.3ACTN2, CTNNA3, DES, DMD, JUP
10fascia adherensGO:00059169.3CDH2, CTNNA3, CTNNB1, DES, DSP, GJA1
11cell-cell junctionGO:00059119.1CDH2, CTNNB1, DSG2, DSP, GJA1, JUP
12lateral plasma membraneGO:00163289.1CTNNB1, DMD, DSG2, GJA1, JUP
13intercalated discGO:00147048.8CDH2, CTNNB1, DES, DSC2, DSG2, DSP
14Z discGO:00300188.7ACTN2, CTNNB1, DES, DMD, JUP, RYR2
15extracellular exosomeGO:00700627.5ACTN2, CDH2, CTNNB1, DES, DSC2, DSG2
16plasma membraneGO:00058866.8ACTN2, CDH2, CTNNB1, DMD, DSC2, DSG2

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1desmosome assemblyGO:000215910.8JUP, PKP2
2regulation of bicellular tight junction assemblyGO:200081010.7GJA1, PKP2
3gap junction assemblyGO:001626410.5GJA1, PKP2
4cellular response to indole-3-methanolGO:007168110.4CTNNB1, JUP
5regulation of ventricular cardiac muscle cell membrane repolarizationGO:006030710.4GJA1, KCNH2
6adherens junction assemblyGO:003433310.4CTNNB1, JUP
7cell communication by electrical coupling involved in cardiac conductionGO:008606410.4GJA1, PKP2, RYR2
8intermediate filament organizationGO:004510910.4DES, DSP
9embryonic heart tube developmentGO:003505010.4CTNNB1, GJA1
10desmosome organizationGO:000293410.3DSG2, DSP
11regulation of myelinationGO:003164110.3CDH2, CTNNB1
12ventricular cardiac muscle cell action potentialGO:008600510.2KCNH2, PKP2, RYR2
13cardiac muscle cell action potentialGO:008600110.2DMD, PKP2
14regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionGO:001088110.2DMD, RYR2
15response to muscle stretchGO:003599410.2DMD, RYR2
16skin developmentGO:004358810.1CTNNB1, DSP, JUP
17protein heterooligomerizationGO:005129110.1CDH2, CTNNB1, JUP
18cardiac muscle hypertrophyGO:000330010.1RYR2, TTN
19establishment of protein localization to plasma membraneGO:009000210.0ACTN2, CDH2, JUP, PKP2
20positive regulation of osteoblast differentiationGO:00456699.9CTNNB1, GJA1, LMNA
21adherens junction organizationGO:00343329.9CDH2, CTNNB1, DSP, JUP
22regulation of membrane potentialGO:00423919.7ACTN2, DMD, KCNH2
23regulation of heart rateGO:00020279.6DMD, GJA1, RYR2
24single organismal cell-cell adhesionGO:00163379.6CTNNA3, CTNNB1, DSP, JUP, PKP2
25platelet degranulationGO:00025769.5ACTN2, TGFB3, TTN
26bundle of His cell-Purkinje myocyte adhesion involved in cell communicationGO:00860739.4CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
27muscle filament slidingGO:00300499.3ACTN2, DES, DMD, TTN
28cardiac muscle contractionGO:00600489.2DMD, KCNH2, RYR2, TTN
29regulation of ventricular cardiac muscle cell action potentialGO:00989119.0CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
30muscle contractionGO:00069369.0ACTN2, DES, GJA1, TTN
31regulation of heart rate by cardiac conductionGO:00860918.8CTNNA3, DSC2, DSG2, DSP, JUP, KCNH2
32cell adhesionGO:00071558.6ACTN2, CDH2, CTNNB1, DSC2, DSG2, JUP

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1cadherin bindingGO:004529610.3CTNNA3, CTNNB1, JUP
2cell adhesion molecule bindingGO:005083910.3DSG2, DSP, JUP
3structural constituent of cytoskeletonGO:000520010.2DES, DMD, DSP
4scaffold protein bindingGO:009711010.2DSP, GJA1, KCNH2
5alpha-catenin bindingGO:004529410.1CDH2, CTNNB1, JUP, PKP2
6protein phosphatase bindingGO:001990310.1CDH2, CTNNB1, JUP
7protein self-associationGO:004362110.1RYR2, TMEM43, TTN
8nitric-oxide synthase bindingGO:005099810.0CDH2, CTNNB1, DMD
9ion channel bindingGO:004432510.0ACTN2, CTNNB1, PKP2, RYR2
10structural constituent of muscleGO:00083079.7ACTN2, DMD, TTN
11cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communicationGO:00860839.6CTNNA3, DSC2, DSG2, DSP, JUP, PKP2
12protein kinase bindingGO:00199019.2CDH2, CTNNB1, JUP, RYR2, TTN
13calcium ion bindingGO:00055098.3ACTN2, CALR3, CDH2, DSC2, DSG2, RYR2
14identical protein bindingGO:00428028.1ACTN2, DES, KCNH2, RYR2, TGFB3, TTN
15protein bindingGO:00055154.8ACTN2, CALR3, CDH2, CTNNA3, CTNNB1, DES

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet