Details of Disease

General Information of Disease (ID: DIS3V2BE)

Disease Name Arrhythmogenic right ventricular cardiomyopathy
Synonyms
arrhythmogenic right ventricular dysplasia/cardiomyopathy; ARVC cardiomyopathy; ARVD; right ventricular dysplasia; arrhythmogenic right ventricular cardiomyopathy; ARVC; arrhythmogenic right ventricular dysplasia; arrhythmogenic RVD
Definition
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that consists in progressive dystrophy of primarily the right ventricular myocardium with fibro-fatty replacement and ventricular dilation, and that is clinically characterized by ventricular arrhythmias and a risk of sudden cardiac death.
Disease Hierarchy
DISYBB39: Intrinsic cardiomyopathy
DIS3V2BE: Arrhythmogenic right ventricular cardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0016587
MESH ID
D019571
UMLS CUI
C0349788
MedGen ID
87618
Orphanet ID
247
SNOMED CT ID
253528005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 19 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TNNC1 TT8RDXP No Known Autosomal dominant [1]
TNNI3 TTNLDK6 No Known Autosomal dominant [1]
TNNT2 TTWAS18 No Known Autosomal dominant [1]
CDH2 TT1WS0T Limited Autosomal dominant [1]
JUP TTREN0G Limited Biomarker [2]
MYBPC3 TT9WOBN Limited Autosomal dominant [1]
MYH7 TTNIMDP Limited Autosomal dominant [1]
SCN5A TTZOVE0 Limited Autosomal dominant [1]
TGFB3 TTWOMY8 Limited Autosomal dominant [1]
PLN TTMCVJF Moderate Autosomal dominant [1]
CDH2 TT1WS0T Strong Biomarker [3]
GJA5 TTFQKZ7 Strong Altered Expression [4]
GJC1 TTEP7OC Strong Altered Expression [4]
HCN4 TTQP04A Strong Genetic Variation [5]
KDM5A TTIG67W Strong Biomarker [6]
MYH7 TTNIMDP Strong Genetic Variation [7]
PLN TTMCVJF Strong Genetic Variation [8]
PRKG1 TT7IZSA Strong Altered Expression [9]
TGFB3 TTWOMY8 Strong Biomarker [10]
------------------------------------------------------------------------------------
⏷ Show the Full List of 19 DTT(s)
This Disease Is Related to 39 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACTC1 OTJU04B1 No Known Autosomal dominant [1]
MYL2 OT78PC0C No Known Autosomal dominant [1]
TNNC1 OT9A0FL4 No Known Autosomal dominant [1]
TNNI3 OT65E12V No Known Autosomal dominant [1]
TNNT2 OT80NN7R No Known Autosomal dominant [1]
TPM1 OTD73X6R No Known Autosomal dominant [1]
RYR2 OT0PF19E Refuted Autosomal dominant [1]
CDH2 OTH0Y56P Limited Autosomal dominant [1]
CTNNA3 OT9Z0P1E Limited Autosomal dominant [1]
LMNA OT3SG7ZR Limited Autosomal dominant [1]
MYBPC3 OT8IG00B Limited Autosomal dominant [1]
MYH7 OT4Z9T8N Limited Autosomal dominant [1]
MYL3 OTKD3RSX Limited Autosomal dominant [1]
SCN5A OTGYZWR6 Limited Autosomal dominant [1]
TGFB3 OT2LOUQ1 Limited Autosomal dominant [1]
TJP1 OTBDCUPK Limited Autosomal dominant [1]
TTN OT0LZ058 Limited Autosomal dominant [1]
DSC2 OTODVH8K Disputed Genetic Variation [11]
DSP OTB2MOP8 Disputed Genetic Variation [12]
LDB3 OTGQL1AM Disputed Autosomal dominant [1]
TMEM43 OTM9RS9G Disputed Genetic Variation [13]
DES OTI09KBW Moderate Autosomal dominant [1]
PLN OTT3RRJN Moderate Autosomal dominant [1]
AKAP6 OTN59BZS Strong Biomarker [14]
ANKRD1 OTHJ7JV9 Strong Biomarker [15]
CELF1 OT6JQ5RS Strong Genetic Variation [16]
CELF2 OTLJJ4VT Strong Genetic Variation [16]
FLNC OT3F8J6Y Strong Genetic Variation [17]
GNPTAB OT2Z03OB Strong Altered Expression [18]
ISL1 OTVNVKAX Strong Genetic Variation [19]
ISM2 OT4K7KON Strong Altered Expression [20]
OBSCN OTT14OVX Strong Genetic Variation [21]
PERP OTP0YL53 Strong Biomarker [22]
PPP1R13L OTNCPLWE Strong Biomarker [23]
PRB1 OTV0SYMD Strong Genetic Variation [24]
PRKAG2 OTHTAM54 Strong Genetic Variation [25]
STRN OTLOZL5I Strong Genetic Variation [26]
DSG2 OTJPB2TO Definitive Autosomal dominant [1]
PKP2 OTJOVF68 Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 39 DOT(s)

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.Circ Genom Precis Med. 2019 Aug;12(8):e002467. doi: 10.1161/CIRCGEN.119.002467. Epub 2019 Aug 6.
3 An autoantibody identifies arrhythmogenic right ventricular cardiomyopathy and participates in its pathogenesis.Eur Heart J. 2018 Nov 21;39(44):3932-3944. doi: 10.1093/eurheartj/ehy567.
4 Connexin expression patterns in arrhythmogenic right ventricular cardiomyopathy.Am J Cardiol. 2013 May 15;111(10):1488-95. doi: 10.1016/j.amjcard.2013.01.299. Epub 2013 Mar 29.
5 A fast and cost-effective molecular diagnostic tool for genetic diseases involved in sudden cardiac death.Clin Chim Acta. 2016 Jan 30;453:80-5. doi: 10.1016/j.cca.2015.12.011. Epub 2015 Dec 10.
6 Comprehensive Myocardial Proteogenomics Profiling Reveals C/EBP as the Key Factor in the Lipid Storage of ARVC.J Proteome Res. 2017 Aug 4;16(8):2863-2876. doi: 10.1021/acs.jproteome.7b00165. Epub 2017 Jul 13.
7 Distal myopathy induced arrhythmogenic right ventricular cardiomyopathy in a pedigree carrying novel DSG2 null variant.Int J Cardiol. 2020 Jan 1;298:25-31. doi: 10.1016/j.ijcard.2019.10.007. Epub 2019 Oct 7.
8 Leducq Transatlantic Network of Excellence to Cure Phospholamban-Induced Cardiomyopathy (CURE-PLaN).Circ Res. 2019 Sep 13;125(7):720-724. doi: 10.1161/CIRCRESAHA.119.315077. Epub 2019 Sep 12.
9 Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications.Int J Legal Med. 2015 Jan;129(1):1-10. doi: 10.1007/s00414-014-0996-y. Epub 2014 May 16.
10 Molecular genetics and pathogenesis of arrhythmogenic right ventricular cardiomyopathy: a disease of cardiac stem cells.Pediatr Cardiol. 2011 Mar;32(3):360-5. doi: 10.1007/s00246-011-9890-2. Epub 2011 Jan 26.
11 Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.Clin Genet. 2019 Dec;96(6):549-559. doi: 10.1111/cge.13645. Epub 2019 Oct 22.
12 How ARVC-Related Mutations Destabilize Desmoplakin: An MD Study.Biophys J. 2019 Mar 5;116(5):831-835. doi: 10.1016/j.bpj.2019.01.023. Epub 2019 Jan 30.
13 TMEM43-S358L mutation enhances NF-B-TGF signal cascade in arrhythmogenic right ventricular dysplasia/cardiomyopathy.Protein Cell. 2019 Feb;10(2):104-119. doi: 10.1007/s13238-018-0563-2. Epub 2018 Jul 6.
14 Predicting disease genes using protein-protein interactions.J Med Genet. 2006 Aug;43(8):691-8. doi: 10.1136/jmg.2006.041376. Epub 2006 Apr 12.
15 Upregulated expression of cardiac ankyrin repeat protein in human failing hearts due to arrhythmogenic right ventricular cardiomyopathy.Eur J Heart Fail. 2009 Jun;11(6):559-66. doi: 10.1093/eurjhf/hfp049. Epub 2009 Apr 9.
16 Genomic organization and isoform-specific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arrhythmogenic right ventricular dysplasia.Genomics. 2001 Jun 15;74(3):396-401. doi: 10.1006/geno.2001.6558.
17 RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.Int J Cardiol. 2020 Mar 1;302:124-130. doi: 10.1016/j.ijcard.2019.12.002. Epub 2019 Dec 6.
18 Intercalated discs: cellular adhesion and signaling in heart health and diseases.Heart Fail Rev. 2019 Jan;24(1):115-132. doi: 10.1007/s10741-018-9743-7.
19 A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.Eur J Heart Fail. 2013 Mar;15(3):267-76. doi: 10.1093/eurjhf/hfs178. Epub 2012 Nov 14.
20 TAIL1: an isthmin-like gene, containing type 1 thrombospondin-repeat and AMOP domain, mapped to ARVD1 critical region.Gene. 2004 Jun 23;335:101-8. doi: 10.1016/j.gene.2004.03.008.
21 Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.PLoS One. 2017 Jul 27;12(7):e0181842. doi: 10.1371/journal.pone.0181842. eCollection 2017.
22 Screening of three novel candidate genes in arrhythmogenic right ventricular cardiomyopathy. Genet Test Mol Biomarkers. 2011 Apr;15(4):267-71. doi: 10.1089/gtmb.2010.0151. Epub 2011 Jan 22.
23 iASPP, a previously unidentified regulator of desmosomes, prevents arrhythmogenic right ventricular cardiomyopathy (ARVC)-induced sudden death.Proc Natl Acad Sci U S A. 2015 Mar 3;112(9):E973-81. doi: 10.1073/pnas.1408111112. Epub 2015 Feb 17.
24 Primary Myocardial Fibrosis as an Alternative Phenotype Pathway of Inherited Cardiac Structural Disorders.Circulation. 2018 Jun 19;137(25):2716-2726. doi: 10.1161/CIRCULATIONAHA.117.032175.
25 Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy.Cardiovasc Pathol. 2010 Sep-Oct;19(5):316-20. doi: 10.1016/j.carpath.2009.06.003. Epub 2009 Jul 24.
26 Genome-wide association identifies a deletion in the 3' untranslated region of striatin in a canine model of arrhythmogenic right ventricular cardiomyopathy.Hum Genet. 2010 Sep;128(3):315-24. doi: 10.1007/s00439-010-0855-y. Epub 2010 Jul 2.