ARVD12: Difference between revisions
Created page with "__NOTOC__ {{Arrhythmogenic right ventricular dysplasia}} {{CMG}} {{SK}} Arrhythmogenic right ventricular dysplasia ; ==Overview== ==Pathophysiology== ===Genetics=== ==Epid..." |
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{{SK}} Arrhythmogenic right ventricular dysplasia ; | {{SK}} Arrhythmogenic right ventricular dysplasia type 12; arrhythmogenic right ventricular cardiomyopathy 12; ARVC12 | ||
==Overview== | ==Overview== | ||
Arrhythmogenic right ventricular dysplasia is a type of nonischemic [[cardiomyopathy]] that involves primarily the [[right ventricle]]. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular [[myocardium]], with associated [[arrhythmia]]s originating in the right ventricle. | |||
==Pathophysiology== | ==Pathophysiology== | ||
The pathogenesis of ARVD involves [[apoptosis]] with fatty and fibro-fatty infiltration of the right ventricular free wall leading to [[heart failure]] and [[ventricular arrhythmias]]. | |||
===Genetics=== | ===Genetics=== | ||
This variant ([http://omim.org/entry/611528 611528]) is associated with a mutation in the [[JUP]] gene ([http://omim.org/entry/173325 173325]) on chromosome 17q21.<ref>Asimaki A, Syrris P, Wichter T et-al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2007;81 (5): 964-73. {{doi|10.1086/521633}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2265660 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/17924338 Pubmed citation]</ref> | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[CME Category::Cardiology]] | |||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Electrophysiology]] | [[Category:Electrophysiology]] | ||
Latest revision as of 00:28, 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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ARVD12 On the Web |
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American Roentgen Ray Society Images of ARVD12 |
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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 12; arrhythmogenic right ventricular cardiomyopathy 12; ARVC12
Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.
Genetics
This variant (611528) is associated with a mutation in the JUP gene (173325) on chromosome 17q21.[1]
Epidemiology and Demographics
Natural History, Complications, Prognosis
Diagnosis
Symptoms
Electrocardiogram
Echocardiogram
MRI
References
- ↑ Asimaki A, Syrris P, Wichter T et-al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2007;81 (5): 964-73. doi:10.1086/521633 - Free text at pubmed - Pubmed citation