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Europace Advance Access published online on March 15, 2007
Europace, doi:10.1093/europace/eum034
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© The European Society of Cardiology 2007. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

REVIEW

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.


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