arrhythmogenic right ventricular dysplasia

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.

Images

 Arrhythmogenic right ventricular cardiomyopathy : macroscopy

• https://twitter.com/kinasa85/status/804886916516691968

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