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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#