ARVD2: Difference between revisions
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==Overview== | ==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]]. This variant is associated with premature death. | 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]]<ref>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><div class="ref_v2"></div>.</ref> This variant is associated with premature death. | ||
==Pathophysiology== | ==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. | 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]]. | There are also abnormalities in calcium hemostasis in the myocytes which may contribute to the occurrence of [[ventricular arrhythmias]].<ref>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><div class="ref_v2"></div></ref> | ||
===Genetics=== | ===Genetics=== | ||
This variant ([http://omim.org/entry/600996 600996]) is associated with a mutation in the [[RYR2 gene]] ([http://omim.org/entry/180902 180902]) on chromosome 1q42-q43. | This variant ([http://omim.org/entry/600996 600996]) is associated with a mutation in the [[RYR2 gene]] ([http://omim.org/entry/180902 180902]) on chromosome 1q42-q43.<ref>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><div class="ref_v2"></div></ref> | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
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===Electrocardiogram=== | ===Electrocardiogram=== | ||
There are no EKG changes on the resting electrocardiogram, but there may be exercise induced [[polymorphic ventricular tachycardia]]. | There are no EKG changes on the resting electrocardiogram, but there may be exercise induced [[polymorphic ventricular tachycardia]]. | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[CME Category::Cardiology]] | |||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Electrophysiology]] | [[Category:Electrophysiology]] | ||
Latest revision as of 00:29, 15 March 2016
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Arrhythmogenic right ventricular dysplasia Microchapters |
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Differentiating Arrhythmogenic right ventricular dysplasia from other Diseases |
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Diagnosis |
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Treatment |
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ARVD2 On the Web |
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American Roentgen Ray Society Images of ARVD2 |
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Directions to Hospitals Treating Arrhythmogenic right ventricular dysplasia |
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>.
- ↑ 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>