ARVD2

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 2; arrhythmogenic right ventricular cardiomyopathy 2; ARVC2

Overview

Arrhythmogenic right ventricular dysplasia type 2 is a “concealed form” of ARVD. There is no change in heart size. There are no EKG changes on the resting electrocardiogram, but there may be exercise induced polymorphic ventricular tachycardia^[1] This variant is associated with premature death.

Pathophysiology

Although the heart is normal in size, on pathologic examination, there are large areas of fibro-fatty replacement in the subepicardial layer of the right ventricle.

There are also abnormalities in calcium hemostasis in the myocytes which may contribute to the occurrence of ventricular arrhythmias.^[2]

Genetics

This variant (600996) is associated with a mutation in the RYR2 gene (180902) on chromosome 1q42-q43.^[3]

Epidemiology and Demographics

Natural History, Complications, Prognosis

This ARVD variant is associated with premature death.

Diagnosis

Symptoms

Exercise induced polymorphic VT may be present.

Electrocardiogram

There are no EKG changes on the resting electrocardiogram, but there may be exercise induced polymorphic ventricular tachycardia.

References

↑ Rampazzo A, Nava A, Erne P et-al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum. Mol. Genet. 1995;4 (11): 2151-4. <a href=”http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=8589694“>Hum. Mol. Genet. (link)</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/8589694“>Pubmed citation</a>
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↑ Scoote M, Williams AJ. Myocardial calcium signalling and arrhythmia pathogenesis. Biochem. Biophys. Res. Commun. 2004;322 (4): 1286-309. <a href=”http://dx.doi.org/10.1016/j.bbrc.2004.08.034“>doi:10.1016/j.bbrc.2004.08.034</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/15336976“>Pubmed citation</a>
↑ Tiso N, Stephan DA, Nava A et-al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet. 2001;10 (3): 189-94. <a href=”http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=11159936“>Hum. Mol. Genet. (link)</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/11159936“>Pubmed citation</a>

CME Category::Cardiology

[1] Rampazzo A, Nava A, Erne P et-al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum. Mol. Genet. 1995;4 (11): 2151-4. <a href=”http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=8589694“>Hum. Mol. Genet. (link)</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/8589694“>Pubmed citation</a>
.

[2] Scoote M, Williams AJ. Myocardial calcium signalling and arrhythmia pathogenesis. Biochem. Biophys. Res. Commun. 2004;322 (4): 1286-309. <a href=”http://dx.doi.org/10.1016/j.bbrc.2004.08.034“>doi:10.1016/j.bbrc.2004.08.034</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/15336976“>Pubmed citation</a>

[3] Tiso N, Stephan DA, Nava A et-al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). Hum. Mol. Genet. 2001;10 (3): 189-94. <a href=”http://hmg.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=11159936“>Hum. Mol. Genet. (link)</a> – <a href=”http://www.ncbi.nlm.nih.gov/pubmed/11159936“>Pubmed citation</a>

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