ARVD5: 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/604400 604400]) is associated with a mutation in the TMEM43 gene ([http://omim.org/entry/612048 612048]) on chromosome 3p23 region.<ref>Ahmad F, Li D, Karibe A et-al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 98 (25): 2791-5. [http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=9860777 Circulation (link)] - [http://www.ncbi.nlm.nih.gov/pubmed/9860777 Pubmed citation]</ref> | |||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
Revision as of 03:03, 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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ARVD5 On the Web |
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American Roentgen Ray Society Images of ARVD5 |
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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 5; arrhythmogenic right ventricular cardiomyopathy 5; ARVC5
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 (604400) is associated with a mutation in the TMEM43 gene (612048) on chromosome 3p23 region.[1]
Epidemiology and Demographics
Natural History, Complications, Prognosis
Diagnosis
Symptoms
Electrocardiogram
Echocardiogram
MRI
References
- ↑ Ahmad F, Li D, Karibe A et-al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23. Circulation. 98 (25): 2791-5. Circulation (link) - Pubmed citation