ARVD1: 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=== | ||
There is an [[autosomal dominant]] pattern of inheritance. This variant is due to a heterozygous mutation in the [[TGFB3]] gene ([http://omim.org/entry/190230 190230]) on chromosome 14q24. | There is an [[autosomal dominant]] pattern of inheritance. This variant is due to a heterozygous mutation in the [[TGFB3]] gene ([http://omim.org/entry/190230 190230]) on chromosome 14q24.<ref>Rampazzo A, Beffagna G, Nava A et-al. Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur. J. Hum. Genet. 2003;11 (1): 69-76. {{doi|10.1038/sj.ejhg.5200914}} - [http://www.ncbi.nlm.nih.gov/pubmed/12529708 Pubmed citation]</ref> | ||
==Epidemiology and Demographics== | ==Epidemiology and Demographics== | ||
The incidence of ARVD is about 1/10,000 in the general population in the [[United States]], although some studies have suggested that it may be as common as 1/1,000. It accounts for up to 17% of all sudden cardiac deaths in the young. In [[Italy]], the incidence is 40/10,000, making it the most common cause of [[sudden cardiac death]] in the young population. It is more common in Northern Italy. | |||
===Gender=== | |||
The male to female ratio is 3:1. | |||
==Natural History, Complications, Prognosis== | ==Natural History, Complications, Prognosis== | ||
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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 00:26, 15 March 2016
Arrhythmogenic right ventricular dysplasia Microchapters |
Differentiating Arrhythmogenic right ventricular dysplasia from other Diseases |
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Diagnosis |
Treatment |
ARVD1 On the Web |
American Roentgen Ray Society Images of ARVD1 |
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 1;
Overview
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
There is an autosomal dominant pattern of inheritance. This variant is due to a heterozygous mutation in the TGFB3 gene (190230) on chromosome 14q24.[1]
Epidemiology and Demographics
The incidence of ARVD is about 1/10,000 in the general population in the United States, although some studies have suggested that it may be as common as 1/1,000. It accounts for up to 17% of all sudden cardiac deaths in the young. In Italy, the incidence is 40/10,000, making it the most common cause of sudden cardiac death in the young population. It is more common in Northern Italy.
Gender
The male to female ratio is 3:1.
Natural History, Complications, Prognosis
Diagnosis
Symptoms
Electrocardiogram
Echocardiogram
MRI
References
- ↑ Rampazzo A, Beffagna G, Nava A et-al. Arrhythmogenic right ventricular cardiomyopathy type 1 (ARVD1): confirmation of locus assignment and mutation screening of four candidate genes. Eur. J. Hum. Genet. 2003;11 (1): 69-76. doi:10.1038/sj.ejhg.5200914 - Pubmed citation