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

 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#