Skip Navigation


Europace Advance Access originally published online on March 15, 2007
Europace 2007 9(5):259-266; doi:10.1093/europace/eum034
This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow All Versions of this Article:
9/5/259    most recent
eum034v1
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (1)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Moric-Janiszewska, E.
Right arrow Articles by Markiewicz-Loskot, G.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Moric-Janiszewska, E.
Right arrow Articles by Markiewicz-Loskot, G.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The European Society of Cardiology 2007. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA

Review on the genetics of arrhythmogenic right ventricular dysplasia

Ewa Moric-Janiszewska1,* and Grazyna Markiewicz-Loskot2

1 Department of Biochemistry, Medical University of Silesia, Narcyzów 1, 41-200 Sosnowiec, Poland; 2 Department of Pediatric Cardiology, Medical University of Silesia, Medyków, Katowice, Poland

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity whose diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular (RV) free wall. There is a familial occurrence in about 50% of cases, with autosomal dominant inheritance with variable penetrance and polymorphic phenotypic expression, and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the extensive form of ARVCM (arrhythmogenic right ventricular cardiomyopathy). In this review, we focus on the some candidate genes mutations and information on some genotype-phenotype correlation in the ARVD. Our findings are in agreement with those of European Society of Cardiology who stated that: genetic analysis is usefull in families with RV cardiomyopathy because whenever a pathogenetic mutation is identified, it becomes possible to establish a presymptomatic diagnosis of the disease among family members and to provide them with genetic counseling to monitor the development of the disease and to assess the risk of transmitting the disease offspring. On the basis of current knowledge, genetic analysis does not contribute to risk stratification of arrhythmogenic RV cardiomyopathy.

Key Words: Arrhythmogenic right ventricular dysplasia, Cardiomyopathy, Transforming growth factor gene, Ryanodine receptor 2 gene, Actinin 2 gene, Laminin receptor-1 gene, Desmoplakin gene, Plakophilin-2 gene

* Corresponding author. Tel: +48 32 291 43 93/extn 54; fax: +480 32 291 74 66. E-mail address: ejaniszewska{at}slam.katowice.pl

Manuscript submitted 4 September 2006. Accepted after revision 9 February 2007.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 DMMHome page
M. D. McCauley and X. H. T. Wehrens
Animal models of arrhythmogenic cardiomyopathy
Dis. Model. Mech., November 1, 2009; 2(11-12): 563 - 570.
[Abstract] [Full Text] [PDF]

Home page
 CirculationHome page
P. A. Noseworthy and C. Newton-Cheh
Genetic Determinants of Sudden Cardiac Death
Circulation, October 28, 2008; 118(18): 1854 - 1863.
[Full Text] [PDF]

Home page
 EuropaceHome page
D. Erkapic, T. Neumann, J. Schmitt, J. Sperzel, A. Berkowitsch, M. Kuniss, C. W. Hamm, and H.-F. Pitschner
Electrical storm in a patient with arrhythmogenic right ventricular cardiomyopathy and SCN5A mutation
Europace, July 1, 2008; 10(7): 884 - 887.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.