arrhythmogenic right ventricular dysplasia
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 | |
| ARVD2 | 1q42.1-q43 | |
| ARVD3 | 14q12-q22 | MIM.602086 |
| ARVD4 | 2q32.1-q32.3 | MIM.602287 |
| ARVD5 | ||
| ARVD6 | 10p12-p14 | MIM.604401 |
| ARVD7 | ||
| ARVD8 | ||
| ARVD9 |
ARVD2 (MIM.600996) (1q42.1-q43)
- Mutations in the cardiac ryanodine receptor gene (MIM.180902). The ryanodine receptor on the sarcoplasmic reticulum is the major source of calcium required for cardiac muscle excitation-contraction coupling. The channel is a tetramer comprised of 4 RYR2 polypeptides and 4 FK506-binding proteins (FKBP1A; MIM.186945) (8589694)
ARVD3 (MIM.602086) (14q12-q22) (8824801)
ARVD4 (MIM.602287) 2q32.1-q32.3 (9344647)
3p23 (9860777)
10p12-p14 ARVD6 (MIM.604401) (early onset) (10631146)
mutations in desmoplakin (12373648)
mutations in plakoglobin
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
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