Home > E. Pathology by systems > Cardiovascular system > Heart > arrhythmogenic right ventricular dysplasia

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