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arrhythmogenic right ventricular dysplasia
Wednesday 25 June 2003
Definition: Arrhythmogenic right ventricular dysplasia (ARVD), a familial cardiomyopathy occurring with a prevalence of 1 in 5000, is characterized by replacement of myocytes with fatty and fibrous tissue.
Clinical manifestations include structural and functional abnormalities of the right ventricle and arrhythmias, leading to a sudden death rate of 2.5% per year.
Epidemiology
Possible recurrence in siblings (1) Can occur in childhood (1,2) May represent 38% or perioperative sudden death (1)
Microscopical synopsis
adipocytes (fatty infiltration of the myocardium) chronic inflammation
Etiology
Loci
| ARVD1 | 14q23-q24 | MIM.107970 | TGFB3 | TGF-beta-3 | MIM.190230 | no reference |
| ARVD2 | 1q42.1-q43 | MIM.600996 | RYR2 | calcium-release channel ryanodine receptor | MIM.180902 | #8589694# |
| ARVD3 | 14q12-q22 | MIM.602086 | No gene | No gene | No gene | #8824801# |
| ARVD4 | 2q32.1-q32.3 | MIM.602287 | No gene | No gene | No gene | #9344647# |
| ARVD5 | 3p23 | MIM.604400 | TMEM43 | transmembrane protein 43 | MIM.612048 | #9860777# |
| ARVD6 | 10p12-p14 | MIM.604401 | No gene | No gene | No gene | #10631146# |
| ARVD7 | 10q22.3 | MIM.609160 | No gene | No gene | No gene | no reference |
| ARVD8 | 6p24 | MIM.607450 | DSP | desmoplakin | MIM.125647 | #12373648# |
| ARVD9 | 12p11 | MIM.609040 | PKP2 | plakophilin-2 | MIM.602861 | no reference |
| ARVD10 | 18q12.1-q12 | MIM.610193 | DSG2 | desmoglein-2 | MIM.125671 | no reference |
| ARVD11 | 18q12.1 | MIM.610476 | DSC2 | desmocollin-2 | MIM.125645 | no reference |
| ARVD12 | 17q21 | MIM.611528 | JUP | junction plakoglobin | MIM.173325 | no reference |
Associations
Naxos disease (Keratosis palmoplantaris with arrhythmogenic cardiomyopathy) (MIM.601214) 10q mutation in the plakoglobin gene (MIM.173325) ARVD and anterior polar cataracts (MIM.115650) - locus CTAA1 - 14q24 (#9409860#) myelomeningocele (#11465566#) fluorescent antinuclear antibody (FANA) positiveness (#1835322#) tuberculosis (#1780299#)
Complications
Right ventricular thrombus (1) heart failure (#10636531#)
References
Arrhythmogenic right ventricular cardiomyopathy. Basso C, Corrado D, Marcus FI, Nava A, Thiene G. Lancet. 2009 Apr 11;373(9671):1289-300. PMID: #19362677#
Chimenti C, Pieroni M, Maseri A, Frustaci A. Histologic findings in patients with clinical and instrumental diagnosis of sporadic arrhythmogenic right ventricular dysplasia. J Am Coll Cardiol. 2004 Jun 16;43(12):2305-13. PMID: #15193698#
Schionning JD, Frederiksen P, Kristensen IB. Arrhythmogenic right ventricular dysplasia as a cause of sudden death. Am J Forensic Med Pathol. 1997 Dec;18(4):345-8. PMID: #9430285#
MIM.107970
http://www.arvd.com
http://www.arvd.org
