KEGG   DISEASE: Arrhythmogenic right ventricular cardiomyopathyHelp
H00293                      Disease                                

Arrhythmogenic right ventricular cardiomyopathy
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.
Cardiovascular disease
Human diseases [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00293  Arrhythmogenic right ventricular cardiomyopathy
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Diseases of the myocardium or cardiac chambers
   BC43  Cardiomyopathy
    H00293  Arrhythmogenic right ventricular cardiomyopathy
BRITE hierarchy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
JUP (mutation) [HSA:3728] [KO:K10056]
RYR2 (mutation) [HSA:6262] [KO:K04962]
DSP (mutation) [HSA:1832] [KO:K10381]
PKP2 (mutation) [HSA:5318] [KO:K12642]
TGF-beta 3 (mutation) [HSA:7043] [KO:K13377]
DSG2 (mutation) [HSA:1829] [KO:K07597]
DSC2 (mutation) [HSA:1824] [KO:K07601]
TMEM43 (mutation) [HSA:79188]
Other DBs
ICD-11: BC43.6
ICD-10: I42
OMIM: 611528 600996 607450 609040 107970 610193 610476 604400
PMID:18001465 (gene, drug)
Thiene G, Corrado D, Basso C
Arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Orphanet J Rare Dis 2:45 (2007)
van Tintelen JP, Hofstra RM, Wiesfeld AC, van den Berg MP, Hauer RN, Jongbloed JD
Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?
Curr Opin Cardiol 22:185-92 (2007)
Awad MM, Calkins H, Judge DP
Mechanisms of disease: molecular genetics of arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Nat Clin Pract Cardiovasc Med 5:258-67 (2008)
Murray B
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C): A Review of Molecular and Clinical Literature.
J Genet Couns 21:494-504 (2012)
PMID:19362677 (drug)
Basso C, Corrado D, Marcus FI, Nava A, Thiene G
Arrhythmogenic right ventricular cardiomyopathy.
Lancet 373:1289-300 (2009)
PMID:19205777 (drug)
Herren T, Gerber PA, Duru F
Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare "disease of the desmosome" with multiple clinical presentations.
Clin Res Cardiol 98:141-58 (2009)

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