ARVD9: Difference between revisions
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{{SK}} Arrhythmogenic right ventricular dysplasia ; | {{SK}} Arrhythmogenic right ventricular dysplasia type 9; arrhythmogenic right ventricular cardiomyopathy 9; ARVC9 | ||
==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/609040 609040]) is associated with a mutation in the [[PKP2]] gene ([http://omim.org/entry/602861 602861]) on chromosome 12p11.<ref>Grossmann KS, Grund C, Huelsken J et-al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J. Cell Biol. 2004;167 (1): 149-60. {{doi|10.1083/jcb.200402096}} - [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172504 Free text at pubmed] - [http://www.ncbi.nlm.nih.gov/pubmed/15479741 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 00:33, 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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ARVD9 On the Web |
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American Roentgen Ray Society Images of ARVD9 |
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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 9; arrhythmogenic right ventricular cardiomyopathy 9; ARVC9
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 (609040) is associated with a mutation in the PKP2 gene (602861) on chromosome 12p11.[1]
Epidemiology and Demographics
Natural History, Complications, Prognosis
Diagnosis
Symptoms
Electrocardiogram
Echocardiogram
MRI
References
- ↑ Grossmann KS, Grund C, Huelsken J et-al. Requirement of plakophilin 2 for heart morphogenesis and cardiac junction formation. J. Cell Biol. 2004;167 (1): 149-60. doi:10.1083/jcb.200402096 - Free text at pubmed - Pubmed citation