ARVC
MCID: ARR042
MIFTS: 61

Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Categories: Cardiovascular diseases, Muscle diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards integrated aliases for Arrhythmogenic Right Ventricular Cardiomyopathy:

Name: Arrhythmogenic Right Ventricular Cardiomyopathy 12 74 25 20 43 58 36 29 6 15
Arrhythmogenic Right Ventricular Dysplasia 12 74 20 43 58 54 44 71
Arvc 12 25 20 43 58
Arvd 12 25 20 43 58
Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy 12 43 6
Arrhythmogenic Right Ventricular Cardiomyopathy-Dysplasia 43
Cardiomyopathy, Ventricular, Right, Arrhythmogenic 39
Ventricular Dysplasia, Right, Arrhythmogenic 43
Right Ventricular Dysplasia, Arrhythmogenic 43
Dysplasia, Arrhythmogenic Right Ventricular 39
Arvc Cardiomyopathy 12
Arvd/c 43

Characteristics:

Orphanet epidemiological data:

58
arrhythmogenic right ventricular cardiomyopathy
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-5/10000 (Italy),1-5/10000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: adolescent,young Adult;

GeneReviews:

25
Penetrance Probands are more likely to have ventricular arrhythmias than their family members [groeneweg et al 2015]. of family members with a pathogenic variant, 324 of 385 were asymptomatic, and of these 324 asymptomatic subjects, 221 (68%) did not meet task force criteria. therefore, penetrance for ventricular arrhythmias appears to be relatively low in this disorder.

Classifications:



External Ids:

Disease Ontology 12 DOID:0050431
KEGG 36 H00293
MeSH 44 D019571
NCIt 50 C84571
SNOMED-CT 67 281170005
MESH via Orphanet 45 D019571
ICD10 via Orphanet 33 I42.8
UMLS via Orphanet 72 C0349788
Orphanet 58 ORPHA247
UMLS 71 C0349788

Summaries for Arrhythmogenic Right Ventricular Cardiomyopathy

KEGG : 36 Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are progressive myocyte loss and fibrofatty replacement, with a predilection for the right ventricle. A number of genetic studies have identified mutations in various components of the cardiac desmosome that have important roles in the pathogenesis of ARVC. Disruption of desmosomal function by defective proteins might lead to death of myocytes under mechanical stress. The myocardial injury may be accompanied by inflammation. Since regeneration of cardiac myocytes is limited, repair by fibrofatty replacement occurs. Several studies have implicated that desmosome dysfunction results in the delocalization and nuclear translocation of plakoglobin. As a result, competition between plakoglobin and beta-catenin will lead to the inhibition of Wnt/beta-catenin signaling, resulting in a shift from a myocyte fate towards an adipocyte fate of cells. The ryanodine receptor plays a crucial part in electromechanical coupling by control of release of calcium from the sarcoplasmic reticulum into the cytosol. Therefore, defects in this receptor could result in an imbalance of calcium homeostasis that might trigger cell death.

MalaCards based summary : Arrhythmogenic Right Ventricular Cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is related to arrhythmogenic right ventricular dysplasia, familial, 13 and naxos disease. An important gene associated with Arrhythmogenic Right Ventricular Cardiomyopathy is PKP2 (Plakophilin 2), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy and Developmental Biology. The drugs Ramipril and Angiotensin-Converting Enzyme Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include heart, cardiac myocytes and adipocyte, and related phenotypes are cardiovascular system and behavior/neurological

Disease Ontology : 12 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.

MedlinePlus Genetics : 43 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.ARVC may not cause any symptoms in its early stages. However, affected individuals may still be at risk of sudden death, especially during strenuous exercise. When symptoms occur, they most commonly include a sensation of fluttering or pounding in the chest (palpitations), light-headedness, and fainting (syncope). Over time, ARVC can also cause shortness of breath and abnormal swelling in the legs or abdomen. If the myocardium becomes severely damaged in the later stages of the disease, it can lead to heart failure.

GARD : 20 Arrhythmogenic right ventricular cardiomyopathy (ARVC) 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 ARVC often develop abnormal heart rhythms known as arrhythmias, which can increase the risk of sudden cardiac arrest or death. Other symptoms of ARVC include chest palpitations, dizziness, fainting and shortness of breath. Often, sudden cardiac death can be the first sign of ARVC. ARVC is caused by genetic mutations in genes that instruct proteins to link one heart cell to the next. There is also some evidence that ARVC 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.

Wikipedia : 74 Arrhythmogenic cardiomyopathy (ACM), arrhythmogenic right ventricular dysplasia (ARVD), or... more...

GeneReviews: NBK1131

Related Diseases for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show top 50) (show all 240)
# Related Disease Score Top Affiliating Genes
1 arrhythmogenic right ventricular dysplasia, familial, 13 33.6 TGFB3 RYR2 PKP2 DSP CTNNA3
2 naxos disease 33.6 TMEM43 TGFB3 RYR2 PKP2 JUP GJA1
3 myopathy, myofibrillar, 1 33.6 TTN LMNA DMD DES
4 arrhythmogenic right ventricular dysplasia, familial, 12 33.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSG2
5 arrhythmogenic right ventricular dysplasia, familial, 5 33.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
6 arrhythmogenic right ventricular dysplasia, familial, 11 33.6 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
7 arrhythmogenic right ventricular dysplasia, familial, 10 33.5 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
8 arrhythmogenic right ventricular dysplasia, familial, 1 33.5 TTN TGFB3 RYR2 PKP2 DSP DSG2
9 arrhythmogenic right ventricular dysplasia, familial, 2 33.5 TMEM43 TGFB3 RYR2 PKP2 DSP DSG2
10 arrhythmogenic right ventricular dysplasia, familial, 8 33.4 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
11 arrhythmogenic right ventricular dysplasia, familial, 9 33.4 TMEM43 TGFB3 RYR2 PKP2 LMNA JUP
12 arrhythmogenic right ventricular dysplasia, familial, 3 33.3 TGFB3 RYR2 PKP2 DSP DSG2 DSC2
13 arrhythmogenic right ventricular dysplasia, familial, 4 33.3 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
14 arrhythmogenic right ventricular dysplasia, familial, 6 33.3 TMEM43 TGFB3 RYR2 PKP2 JUP DSP
15 atrial standstill 1 33.1 TTN TMEM43 SCN5A RYR2 PKP2 LMNA
16 familial isolated arrhythmogenic right ventricular dysplasia 32.9 TMEM43 SCN5A PKP2 DSP DSC2
17 familial woolly hair syndrome 32.9 TMEM43 TGFB3 RYR2 PKP2 JUP GJA1
18 cardiac conduction defect 32.7 SCN5A RYR2 LMNA DSP CACNA1C
19 syncope 32.5 TTN SCN5A RYR2 ACTN2
20 ventricular fibrillation, paroxysmal familial, 1 32.3 SCN5A RYR2 DSP CACNA1C
21 left bundle branch hemiblock 32.1 TMEM43 SCN5A RYR2 PKP2 LMNA DSP
22 cardiac arrest 32.1 TTN SCN5A RYR2 DSP DSG2
23 congestive heart failure 32.0 TTN SCN5A RYR2 CACNA1C ACTN2
24 progressive familial heart block, type ia 32.0 SCN5A DSP
25 right bundle branch block 32.0 SCN5A PKP2 DSG2 CACNA1C
26 palmoplantar keratosis 31.9 PKP2 JUP GJA1 DSP DSG2 DSC2
27 dilated cardiomyopathy 31.8 TTN TMEM43 TGFB3 SCN5A RYR2 PKP2
28 brugada syndrome 31.7 TTN TMEM43 TGFB3 SCN5A RYR2 PKP2
29 myopathy 31.7 TTN TMEM43 RYR2 LMNA DMD DES
30 hypertrophic cardiomyopathy 31.7 TTN TMEM43 TGFB3 SCN5A RYR2 PKP2
31 palmoplantar keratoderma and woolly hair 31.7 JUP DSP DSC2
32 heart disease 31.6 TTN TGFB3 SCN5A RYR2 PKP2 LMNA
33 myocarditis 31.6 TTN DSP DMD
34 atrioventricular block 31.6 TTN SCN5A RYR2 LMNA GJA1 DES
35 keratosis 31.5 GJA1 DSP DSG2
36 cardiomyopathy, dilated, with woolly hair and keratoderma 31.4 TMEM43 TGFB3 RYR2 PKP2 JUP GJA1
37 atrial heart septal defect 31.4 SCN5A GJA1 DMD
38 myofibrillar myopathy 31.4 TTN LMNA DMD DES ACTN2
39 atrial fibrillation 31.3 TTN SCN5A RYR2 LMNA GJA1
40 sick sinus syndrome 31.3 TTN SCN5A LMNA CACNA1C
41 lmna-related dilated cardiomyopathy 31.3 TTN LMNA DSP DSC2
42 catecholaminergic polymorphic ventricular tachycardia 31.3 TMEM43 SCN5A RYR2 PKP2 LMNA DSP
43 long qt syndrome 31.3 TTN TMEM43 SCN5A RYR2 PKP2 LMNA
44 tetralogy of fallot 31.3 SCN5A RYR2 GJA1 ACTN2
45 restrictive cardiomyopathy 31.2 TTN LMNA DSP DSG2-AS1 DSG2 DMD
46 cardiac arrhythmia 31.2 SCN5A RYR2 PKP2 JUP DSP CACNA1C
47 pemphigus 31.0 JUP DSP DSG2 DSC2
48 palmoplantar keratoderma, nonepidermolytic 31.0 TMEM43 RYR2 PKP2 JUP GJA1 DSP
49 hair disease 31.0 LMNA DSP DSC2 CTNNB1
50 emery-dreifuss muscular dystrophy 31.0 TTN TMEM43 LMNA DMD DES

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

MGI Mouse Phenotypes related to Arrhythmogenic Right Ventricular Cardiomyopathy:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.45 CACNA1C CDH2 CTNNA3 CTNNB1 DES DMD
2 behavior/neurological MP:0005386 10.29 CACNA1C CTNNB1 DES DMD GJA1 JUP
3 cellular MP:0005384 10.29 CACNA1C CDH2 CTNNB1 DES DMD DSG2
4 mortality/aging MP:0010768 10.25 CACNA1C CDH2 CTNNA3 CTNNB1 DES DMD
5 embryo MP:0005380 10.17 CACNA1C CDH2 CTNNB1 DSP GJA1 JUP
6 immune system MP:0005387 10.14 CACNA1C CTNNB1 DMD DSG2 DSP GJA1
7 muscle MP:0005369 10.13 CACNA1C CDH2 CTNNA3 CTNNB1 DES DMD
8 craniofacial MP:0005382 10.06 CACNA1C CTNNB1 DSP GJA1 JUP LMNA
9 limbs/digits/tail MP:0005371 9.91 CTNNB1 DMD GJA1 JUP LMNA TGFB3
10 nervous system MP:0003631 9.9 CACNA1C CDH2 CTNNB1 DMD DSP GJA1
11 normal MP:0002873 9.61 CTNNB1 DMD GJA1 JUP LMNA RYR2
12 vision/eye MP:0005391 9.28 CTNNB1 DMD DSC2 DSG2 DSP GJA1

Drugs & Therapeutics for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ramipril Approved Phase 3 87333-19-5 5362129
2 Angiotensin-Converting Enzyme Inhibitors Phase 3
3 Antihypertensive Agents Phase 3
4 HIV Protease Inhibitors Phase 3
5
protease inhibitors Phase 3
6 Diuretics, Potassium Sparing Phase 2
7 Anti-Arrhythmia Agents Phase 2
8 Sodium Channel Blockers Phase 2
9
Isoproterenol Approved, Investigational 7683-59-2 3779

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD: a Double-blind Multicentre Prospective Randomized Study. Not yet recruiting NCT03593317 Phase 3 Ramipril;Placebo
2 Pilot Randomized Trial With Flecainide in ARVC Patients Recruiting NCT03685149 Phase 2 Flecainide Pill;Placebo
3 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
4 PET-detected Myocardial Inflammation is a Characteristic of Cardiac Sarcoid But Not of ARVC - a Feasibility Study Unknown status NCT02989480
5 Risk Stratification in Children and Adolescents With Primary Cardiomyopathy Unknown status NCT03572569
6 DZHK TranslatiOnal Registry for CardiomyopatHies Deutsches Zentrum für Herz- Und Kreislauf-Forschung (DZHK) Unknown status NCT02187263
7 Metabolomic Study of Patients With Cardiomyopathy in China Unknown status NCT03061994
8 The Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia From Real World Autoptic Data: Diagnosis in the Absence of Clinical Criteria Completed NCT03900208
9 Genetic Study of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Completed NCT00999947
10 Canadian National Arrhythmogenic Right Ventricular Cardiomyopathy Completed NCT01804699
11 The Role of High Density Surface Cardiac Electrographic Mapping in the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy :A Pilot Study Completed NCT02291393
12 Utility of Isoproterenol Challenge Test to Detect Disease in Patients With Incomplete Diagnostic Criteria for Arrhythmogenic Right Ventricular Cardiomyopathy Completed NCT00083395
13 Multidisciplinary Study of Right Ventricular Dysplasia Completed NCT00024505
14 Cardiac Arrest Survivors With Preserved Ejection Fraction Registry (CASPER) Completed NCT00292032
15 Long Term Monitoring to Detect Risk of Sudden Death in Inherited Arrhythmia Patients Completed NCT04124237
16 Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome Completed NCT02302274 flecainide iv
17 MRI Assessment of the Effect of Preload on Ventricular Volumes and Function in Healthy Adult Volunteers Completed NCT01678040
18 China Structural Ventricular Arrhythmias Registry, a Multicenter,Observational and Prospective Study. Recruiting NCT03821051
19 Feasibility of DNA Analysis From Isolated Cardiomyocytes in the Molecular Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Recruiting NCT03177018
20 The Mayo Clinic Arrhythmogenic Ventricular Cardiomyopathy Registry and Biobank Recruiting NCT03049254
21 TranslatiOnal Registry for CardiomyopatHies (TORCH) - Plus as Part of the German Centre for Cardiovascular Research (DZHK) Recruiting NCT04265040
22 An Integrative-omics Study to Identify New Biomarkers of Cardiomyopathy Patients in China Recruiting NCT03076580
23 Pediatric Cardiomyopathy Mutation Analysis Recruiting NCT02432092
24 Analysis of Distribution of Cell-cell Junction Proteins in Buccal Smear Samples From Patients With Arrhythmic Disorders and Family Members at Risk as a Means for Diagnosis Active, not recruiting NCT04257994
25 Sahlgrenska University Hospital Cardiomyopathy Project: Mapping and Diagnosis of Cardiomyopathies to Enable Early and Specific Treatment Enrolling by invitation NCT03527342
26 Hearts in Rhythm Organization (HiRO)National Registry and Bio Bank: Improving Detection and Treatment of Inherited Heart Rhythm Disorders to Prevent Sudden Death Enrolling by invitation NCT04189822
27 Healthy-related Quality of Life and Physical Activity of Children With Inherited Cardiac Arrhythmia or Inherited Cardiomyopathies: the Prospective Multicentre Controlled QUALIMYORYTHM Study Not yet recruiting NCT04712136
28 Prolonged Monitoring to Detect Ventricular Arrhythmias in Presymptomatic ARVC Patients Terminated NCT01271816

Search NIH Clinical Center for Arrhythmogenic Right Ventricular Cardiomyopathy

Cochrane evidence based reviews: arrhythmogenic right ventricular dysplasia

Genetic Tests for Arrhythmogenic Right Ventricular Cardiomyopathy

Genetic tests related to Arrhythmogenic Right Ventricular Cardiomyopathy:

# Genetic test Affiliating Genes
1 Arrhythmogenic Right Ventricular Cardiomyopathy 29

Anatomical Context for Arrhythmogenic Right Ventricular Cardiomyopathy

MalaCards organs/tissues related to Arrhythmogenic Right Ventricular Cardiomyopathy:

40
Heart, Cardiac Myocytes, Adipocyte, Skin, Brain, Eye, Skeletal Muscle

Publications for Arrhythmogenic Right Ventricular Cardiomyopathy

Articles related to Arrhythmogenic Right Ventricular Cardiomyopathy:

(show top 50) (show all 2854)
# Title Authors PMID Year
1
Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 61 25 6 54
17010805 2006
2
Arrhythmogenic right ventricular dysplasia/cardiomyopathy: pathogenic desmosome mutations in index-patients predict outcome of family screening: Dutch arrhythmogenic right ventricular dysplasia/cardiomyopathy genotype-phenotype follow-up study. 25 61 6
21606396 2011
3
Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 61 25 6
20152563 2010
4
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia. 61 6 25
20129281 2010
5
Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 6 61 54
16549640 2006
6
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. 6 54 61
16567567 2006
7
Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy. 6 61 54
16415378 2006
8
Multilevel analyses of SCN5A mutations in arrhythmogenic right ventricular dysplasia/cardiomyopathy suggest non-canonical mechanisms for disease pathogenesis. 61 6
28069705 2017
9
Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. 61 6
24585727 2014
10
Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. 6 61
23810883 2013
11
An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. 61 6
23347029 2013
12
Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. 61 6
20400443 2010
13
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. 25 61 54
20031616 2009
14
Mutation of plakophilin-2 gene in arrhythmogenic right ventricular cardiomyopathy. 6 61
19302745 2009
15
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. 25 61 54
18957847 2009
16
A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. 61 54 25
17924338 2007
17
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy. 61 54 25
16917092 2006
18
Regulatory mutations in transforming growth factor-beta3 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. 54 25 61
15639475 2005
19
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 61 6
15489853 2004
20
Genotype-phenotype assessment in autosomal recessive arrhythmogenic right ventricular cardiomyopathy (Naxos disease) caused by a deletion in plakoglobin. 54 61 25
11691526 2001
21
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). 61 54 25
10902626 2000
22
Arrhythmogenic Right Ventricular Cardiomyopathy: Risk Stratification and Indications for Defibrillator Therapy. 61 25
27147509 2016
23
Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy. 61 25
25825460 2016
24
2015 update on the diagnosis and management of arrhythmogenic right ventricular cardiomyopathy. 25 61
26569086 2016
25
Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement. 61 25
26216213 2015
26
Association of competitive and recreational sport participation with cardiac events in patients with arrhythmogenic right ventricular cardiomyopathy: results from the North American multidisciplinary study of arrhythmogenic right ventricular cardiomyopathy. 61 25
25896080 2015
27
Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 61 25
25820315 2015
28
Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. 61 25
25616645 2015
29
The ARVD/C genetic variants database: 2014 update. 25 61
25676813 2015
30
Importance of CMR within the Task Force Criteria for the diagnosis of ARVC in children and adolescents. 61 25
25766945 2015
31
Clinical and functional characterization of a novel mutation in lamin a/c gene in a multigenerational family with arrhythmogenic cardiac laminopathy. 25 61
25837155 2015
32
Desmoplakin truncations and arrhythmogenic left ventricular cardiomyopathy: characterizing a phenotype. 25 61
24938629 2014
33
Phenotypic analysis of arrhythmogenic cardiomyopathy in the Hutterite population: role of electrocardiogram in identifying high-risk desmocollin-2 carriers. 61 25
25497880 2014
34
Titin and desmosomal genes in the natural history of arrhythmogenic right ventricular cardiomyopathy. 61 25
25157032 2014
35
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 61 25
24503780 2014
36
Successful obstetric management of arrhythmogenic right ventricular cardiomyopathy. 25 61
25402595 2014
37
TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy. 61 25
25343256 2014
38
Arrhythmogenic right ventricular cardiomyopathy in pregnancy. 61 25
24898597 2014
39
Correlation of ventricular arrhythmias with genotype in arrhythmogenic right ventricular cardiomyopathy. 25 61
24125834 2013
40
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 61 25
24070718 2013
41
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. 25 61
23486541 2013
42
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 25 61
23812740 2013
43
Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 61 25
23871885 2013
44
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 25 61
23299917 2013
45
Detection of genomic deletions of PKP2 in arrhythmogenic right ventricular cardiomyopathy. 61 25
22889254 2013
46
Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. 25 61
23168288 2013
47
Electrophysiological characteristics of ventricular tachyarrhythmias in cardiac sarcoidosis versus arrhythmogenic right ventricular cardiomyopathy. 61 25
23070261 2013
48
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. 61 25
23136403 2013
49
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. 25 61
22820313 2012
50
Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. 25 61
22395865 2012

Variations for Arrhythmogenic Right Ventricular Cardiomyopathy

ClinVar genetic disease variations for Arrhythmogenic Right Ventricular Cardiomyopathy:

6 (show top 50) (show all 524)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DSP NM_004415.4(DSP):c.1146del (p.Phe382fs) Deletion Pathogenic 44852 rs397516913 6:7568014-7568014 6:7567781-7567781
2 DSG2 NM_001943.5(DSG2):c.1771_1772TG[1] (p.Cys591_Glu592delinsTer) Microsatellite Pathogenic 44286 rs397516703 18:29118833-29118834 18:31538870-31538871
3 PKP2 NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) SNV Pathogenic 36680 rs193922672 12:32994037-32994037 12:32841103-32841103
4 DSP NM_004415.4(DSP):c.699G>A (p.Trp233Ter) SNV Pathogenic 44946 rs397516955 6:7562986-7562986 6:7562753-7562753
5 PKP2 NM_001005242.3(PKP2):c.1211dup (p.Val406fs) Duplication Pathogenic 45015 rs397516989 12:33003866-33003867 12:32850932-32850933
6 PKP2 NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) SNV Pathogenic 45016 rs372827156 12:33003841-33003841 12:32850907-32850907
7 PKP2 NM_001005242.3(PKP2):c.1556+1G>A SNV Pathogenic 45038 rs397517003 12:32993961-32993961 12:32841027-32841027
8 TMEM43 NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) SNV Pathogenic 734 rs63750743 3:14183165-14183165 3:14141665-14141665
9 PKP2 NM_001005242.3(PKP2):c.2014-1G>C SNV Pathogenic 6756 rs193922674 12:32955491-32955491 12:32802557-32802557
10 PKP2 NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) SNV Pathogenic 45054 rs397517015 12:32974436-32974436 12:32821502-32821502
11 DSP NM_004415.4(DSP):c.3474dup (p.Glu1159fs) Duplication Pathogenic 517147 rs727503000 6:7579896-7579897 6:7579663-7579664
12 PKP2 NM_001005242.3(PKP2):c.2357+1G>A SNV Pathogenic 6757 rs111517471 12:32949042-32949042 12:32796108-32796108
13 PKP2 NM_001005242.2(PKP2):c.148_151del (p.Thr50fs) Deletion Pathogenic 45028 rs397516997 12:33049515-33049518 12:32896581-32896584
14 PKP2 NM_004572.3(PKP2):c.1162C>T (p.Arg388Trp) SNV Pathogenic 201979 rs766209297 12:33021869-33021869 12:32868935-32868935
15 PKP2 NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) SNV Pathogenic 45010 rs397516986 12:33021899-33021899 12:32868965-32868965
16 PKP2 NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) SNV Pathogenic 45049 rs397517012 12:32975460-32975460 12:32822526-32822526
17 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) Indel Pathogenic 45063 rs397517021 12:32955434-32955439 12:32802500-32802505
18 PKP2 NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) SNV Pathogenic 6754 rs121434420 12:33031955-33031955 12:32879021-32879021
19 SCN5A NM_198056.2(SCN5A):c.2184_2186del (p.Leu729del) Deletion Pathogenic 403732 rs1060499940 3:38639296-38639298 3:38597805-38597807
20 SCN5A NM_198056.2(SCN5A):c.6048G>A (p.Val2016=) SNV Pathogenic 403733 rs1060499941 3:38591815-38591815 3:38550324-38550324
21 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 3:38592996-38592996 3:38551505-38551505
22 SCN5A NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) SNV Pathogenic 207974 rs370694515 3:38592170-38592170 3:38550679-38550679
23 SCN5A NM_198056.2(SCN5A):c.1247A>G (p.Tyr416Cys) SNV Pathogenic 201449 rs372395294 3:38647533-38647533 3:38606042-38606042
24 CTNNA3 NM_013266.4(CTNNA3):c.2293_2295TTG[1] (p.Leu766del) Microsatellite Pathogenic 100657 rs587777135 10:67726472-67726474 10:65966714-65966716
25 TMEM43 NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) SNV Pathogenic 734 rs63750743 3:14183165-14183165 3:14141665-14141665
26 PKP2 NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) SNV Pathogenic 45016 rs372827156 12:33003841-33003841 12:32850907-32850907
27 PKP2 NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) Indel Pathogenic 45063 rs397517021 12:32955434-32955439 12:32802500-32802505
28 DSP NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) Duplication Pathogenic 199923 rs1554108152 6:7580155-7580156 6:7579922-7579923
29 PKP2 NM_004572.3(PKP2):c.273_277del (p.His91_Leu92insTer) Deletion Pathogenic 523702 rs1555148259 12:33031913-33031917 12:32878979-32878983
30 DSP NM_004415.4(DSP):c.939+1G>A SNV Pathogenic 178282 rs727504443 6:7565754-7565754 6:7565521-7565521
31 DSP NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) SNV Pathogenic 658277 rs1581805658 6:7571676-7571676 6:7571443-7571443
32 PKP2 NM_004572.3(PKP2):c.256dup (p.Tyr86fs) Duplication Pathogenic 202010 rs794729120 12:33031933-33031934 12:32878999-32879000
33 PKP2 NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) SNV Pathogenic 45049 rs397517012 12:32975460-32975460 12:32822526-32822526
34 PKP2 NM_004572.3(PKP2):c.397C>T (p.Gln133Ter) SNV Pathogenic 202027 rs794729132 12:33031417-33031417 12:32878483-32878483
35 PKP2 NM_004572.3(PKP2):c.1579del (p.Thr526_Leu527insTer) Deletion Pathogenic 202018 rs794729126 12:32994071-32994071 12:32841137-32841137
36 DSG2 NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) SNV Pathogenic 16812 rs121913008 18:29099821-29099821 18:31519858-31519858
37 PKP2 NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) SNV Pathogenic 6755 rs121434421 12:32955433-32955433 12:32802499-32802499
38 PKP2 NM_004572.3(PKP2):c.1643del (p.Gly548fs) Deletion Pathogenic 202035 rs794729137 12:32994007-32994007 12:32841073-32841073
39 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 1:156105758-156105758 1:156135967-156135967
40 SCN5A NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) SNV Pathogenic 67988 rs199473316 3:38592503-38592503 3:38551012-38551012
41 PKP2 NM_004572.3(PKP2):c.1643del (p.Gly548fs) Deletion Pathogenic 202035 rs794729137 12:32994007-32994007 12:32841073-32841073
42 PKP2 NM_001005242.2(PKP2):c.2377del (p.Ser793fs) Deletion Pathogenic/Likely pathogenic 177995 rs727504432 12:32945646-32945646 12:32792712-32792712
43 PKP2 NM_004572.3(PKP2):c.2551del (p.Thr851fs) Deletion Likely pathogenic 179315 rs727504786 12:32945604-32945604 12:32792670-32792670
44 DSP NM_004415.4(DSP):c.2920del (p.Thr974fs) Deletion Likely pathogenic 179980 rs727505260 6:7578052-7578052 6:7577819-7577819
45 DSP NM_004415.4(DSP):c.3526del (p.Val1176fs) Deletion Likely pathogenic 179994 rs727505271 6:7579947-7579947 6:7579714-7579714
46 DSP NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) SNV Likely pathogenic 163265 rs727503001 6:7580053-7580053 6:7579820-7579820
47 DSP NM_004415.4(DSP):c.4824dup (p.Ala1609fs) Duplication Likely pathogenic 163276 rs727503003 6:7581245-7581246 6:7581012-7581013
48 PKP2 NM_004572.3(PKP2):c.(?_1689)_(1806_?)del Deletion Likely pathogenic 164945 12:32976979-32977096 12:32824045-32824162
49 PKP2 NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) SNV Likely pathogenic 177984 rs727504430 12:33031042-33031042 12:32878108-32878108
50 DSC2 NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) SNV Likely pathogenic 162504 rs145476705 18:28667744-28667744 18:31087781-31087781

Copy number variations for Arrhythmogenic Right Ventricular Cardiomyopathy from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 29828 1 236600000 243700000 Gain RYR2 Arrhythmogenic right ventricular cardiomyopathy

Expression for Arrhythmogenic Right Ventricular Cardiomyopathy

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

Pathways for Arrhythmogenic Right Ventricular Cardiomyopathy

Pathways related to Arrhythmogenic Right Ventricular Cardiomyopathy according to KEGG:

36
# Name Kegg Source Accession
1 Arrhythmogenic right ventricular cardiomyopathy hsa05412

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 SCN5A PKP2 JUP DSP DSG2 DSC2
2
Show member pathways
12.82 TGFB3 JUP CTNNB1 CTNNA3 CDH2 ACTN2
3
Show member pathways
12.73 TTN SCN5A RYR2 DMD DES CACNA1C
4 12.38 LMNA JUP GJA1 DES
5
Show member pathways
12.38 PKP2 JUP DSP DSG2 DSC2
6 12.08 SCN5A RYR2 GJA1 CTNNB1
7
Show member pathways
12.07 TTN TGFB3 RYR2 LMNA DMD DES
8 12 RYR2 CTNNB1 CDH2 CACNA1C
9 11.89 JUP GJA1 DSP CTNNB1 CDH2
10
Show member pathways
11.88 LMNA DSP DSG2 CTNNB1
11
Show member pathways
11.79 PKP2 DSP DES
12 11.77 TGFB3 GJA1 DES CDH2
13 11.72 JUP GJA1 CTNNB1
14 11.68 RYR2 PKP2 LMNA JUP GJA1 DSP
15 11.64 TTN DMD DES ACTN2
16 11.45 SCN5A RYR2 LMNA JUP GJA1 DSP
17 11.32 JUP CTNNB1 CTNNA3 CDH2 ACTN2
18 11.27 JUP CTNNB1 CTNNA3 CDH2
19 11.23 GJA1 CTNNB1 CDH2
20 11 JUP GJA1 DSP CTNNB1 CTNNA3 CDH2

GO Terms for Arrhythmogenic Right Ventricular Cardiomyopathy

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.43 TTN TGFB3 SCN5A PKP2 JUP GJA1
2 plasma membrane GO:0005886 10.4 TTN TGFB3 SCN5A RYR2 PKP2 JUP
3 cell junction GO:0030054 10.13 PKP2 JUP GJA1 DSP DSG2 DSC2
4 cytoskeleton GO:0005856 10.12 JUP DSP DMD DES CTNNB1 CTNNA3
5 cell surface GO:0009986 10 TGFB3 SCN5A DSG2 DMD CDH2
6 focal adhesion GO:0005925 9.97 JUP GJA1 CTNNB1 CDH2 ACTN2
7 adherens junction GO:0005912 9.95 PKP2 JUP DSC2 CTNNB1 CTNNA3 CDH2
8 intermediate filament GO:0005882 9.91 PKP2 LMNA JUP DSP DES
9 lamellipodium GO:0030027 9.86 DMD CTNNB1 CTNNA3 CDH2
10 cell-cell junction GO:0005911 9.86 PKP2 JUP DSP DSG2 DSC2 DES
11 lateral plasma membrane GO:0016328 9.85 SCN5A JUP DSG2 DMD CTNNB1
12 sarcolemma GO:0042383 9.85 SCN5A RYR2 DMD DES CDH2 CACNA1C
13 Z disc GO:0030018 9.81 TTN SCN5A RYR2 JUP DMD DES
14 cornified envelope GO:0001533 9.8 PKP2 JUP DSP DSG2 DSC2
15 T-tubule GO:0030315 9.72 TGFB3 SCN5A CACNA1C
16 desmosome GO:0030057 9.72 PKP2 JUP DSP DSG2 DSC2
17 catenin complex GO:0016342 9.71 JUP CTNNB1 CDH2
18 apicolateral plasma membrane GO:0016327 9.7 JUP CTNNB1 CDH2
19 postsynaptic density, intracellular component GO:0099092 9.59 CTNNB1 ACTN2
20 fascia adherens GO:0005916 9.5 JUP GJA1 DSP DES CTNNB1 CTNNA3
21 intercalated disc GO:0014704 9.32 SCN5A PKP2 JUP GJA1 DSP DSG2

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.01 PKP2 JUP DSG2 DSC2 CTNNB1 CTNNA3
2 keratinization GO:0031424 9.96 PKP2 JUP DSP DSG2 DSC2
3 heart development GO:0007507 9.93 PKP2 GJA1 CTNNB1 CACNA1C
4 protein localization to plasma membrane GO:0072659 9.9 PKP2 JUP CDH2 ACTN2
5 cell-cell adhesion GO:0098609 9.86 PKP2 JUP DSP DSG2 DSC2 CTNNB1
6 cornification GO:0070268 9.85 PKP2 JUP DSP DSG2 DSC2
7 cellular protein localization GO:0034613 9.84 LMNA GJA1 DMD CTNNB1
8 muscle contraction GO:0006936 9.83 TTN DES ACTN2
9 adherens junction organization GO:0034332 9.81 JUP DSP CTNNB1 CDH2
10 cardiac muscle contraction GO:0060048 9.8 TTN SCN5A RYR2 DMD
11 skin development GO:0043588 9.78 JUP DSP CTNNB1
12 regulation of heart rate GO:0002027 9.75 SCN5A RYR2 DMD
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.74 RYR2 DMD CACNA1C
14 muscle filament sliding GO:0030049 9.73 TTN DMD DES ACTN2
15 ventricular cardiac muscle cell action potential GO:0086005 9.72 SCN5A RYR2 PKP2
16 cardiac muscle cell action potential involved in contraction GO:0086002 9.7 SCN5A PKP2 CACNA1C
17 response to muscle stretch GO:0035994 9.66 RYR2 DMD
18 positive regulation of sodium ion transport GO:0010765 9.65 SCN5A PKP2
19 calcium ion transport into cytosol GO:0060402 9.65 RYR2 CACNA1C
20 epithelial cell-cell adhesion GO:0090136 9.65 DSP CTNNA3
21 detection of muscle stretch GO:0035995 9.65 TTN CTNNB1 CDH2
22 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.64 SCN5A CACNA1C
23 response to denervation involved in regulation of muscle adaptation GO:0014894 9.64 SCN5A DMD
24 cardiac muscle hypertrophy GO:0003300 9.63 TTN RYR2
25 bundle of His cell-Purkinje myocyte adhesion involved in cell communication GO:0086073 9.63 PKP2 JUP DSP DSG2 DSC2 CTNNA3
26 atrial cardiac muscle cell action potential GO:0086014 9.62 SCN5A GJA1
27 membrane depolarization during AV node cell action potential GO:0086045 9.62 SCN5A CACNA1C
28 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.62 RYR2 PKP2 GJA1 CACNA1C
29 cellular response to indole-3-methanol GO:0071681 9.61 JUP CTNNB1
30 desmosome assembly GO:0002159 9.59 PKP2 JUP
31 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.58 SCN5A CACNA1C
32 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.56 RYR2 PKP2 JUP DSP DSG2 DSC2
33 desmosome organization GO:0002934 9.54 PKP2 DSP DSG2
34 regulation of heart rate by cardiac conduction GO:0086091 9.23 SCN5A PKP2 JUP DSP DSG2 DSC2

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.08 TTN TMEM43 TGFB3 RYR2 LMNA DES
2 calcium ion binding GO:0005509 9.93 TTN RYR2 DSG2 DSC2 CDH2 ACTN2
3 enzyme binding GO:0019899 9.83 TTN SCN5A RYR2 CTNNB1 CDH2
4 actin filament binding GO:0051015 9.81 TTN DMD CTNNA3 ACTN2
5 calmodulin binding GO:0005516 9.8 TTN SCN5A RYR2 CACNA1C
6 protein kinase binding GO:0019901 9.8 TTN SCN5A RYR2 JUP CTNNB1 CDH2
7 cadherin binding GO:0045296 9.77 PKP2 JUP CTNNB1 CTNNA3 CDH2
8 structural constituent of cytoskeleton GO:0005200 9.73 DSP DMD DES
9 protein phosphatase binding GO:0019903 9.71 JUP CTNNB1 CDH2
10 cell adhesion molecule binding GO:0050839 9.7 JUP DSP DSG2
11 structural constituent of muscle GO:0008307 9.58 TTN DMD ACTN2
12 beta-catenin binding GO:0008013 9.56 GJA1 CTNNB1 CTNNA3 CDH2
13 nitric-oxide synthase binding GO:0050998 9.55 SCN5A DMD
14 ion channel binding GO:0044325 9.55 SCN5A RYR2 PKP2 CTNNB1 ACTN2
15 alpha-catenin binding GO:0045294 9.26 PKP2 JUP CTNNB1 CDH2
16 cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication GO:0086083 9.02 PKP2 JUP DSP DSG2 DSC2

Sources for Arrhythmogenic Right Ventricular Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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