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