ARVD11: Difference between revisions
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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]]. | 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/610476 610476]) is associated with a mutation in the [[DSC2]] gene ([http://omim.org/entry/125645 125645]) on chromosome 18q12.1.<ref>Syrris P, Ward D, Evans A et-al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am. J. Hum. Genet. 2006;79 (5): 978-84. {{doi|10.1086/509122}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1698574 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/17033975 Pubmed citation]</ref> | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
Revision as of 03:10, 23 September 2012
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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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ARVD11 On the Web |
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American Roentgen Ray Society Images of ARVD11 |
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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 11; arrhythmogenic right ventricular cardiomyopathy 11; ARVC11
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 (610476) is associated with a mutation in the DSC2 gene (125645) on chromosome 18q12.1.[1]
Epidemiology and Demographics
Natural History, Complications, Prognosis
Diagnosis
Symptoms
Electrocardiogram
Echocardiogram
MRI
References
- ↑ Syrris P, Ward D, Evans A et-al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2. Am. J. Hum. Genet. 2006;79 (5): 978-84. doi:10.1086/509122 - Free text at pubmed - Pubmed citation