Skip Navigation


Europace Advance Access originally published online on January 16, 2009
Europace 2009 11(3):379-381; doi:10.1093/europace/eun378
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow All Versions of this Article:
11/3/379    most recent
eun378v1
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 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 arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Gandjbakhch, E.
Right arrow Articles by Charron, P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Gandjbakhch, E.
Right arrow Articles by Charron, P.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2009. For permissions please email: journals.permissions@oxfordjournals.org

SHORT COMMUNICATIONS

Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation

Estelle Gandjbakhch1,2, Véronique Fressart3, Géraldine Bertaux4, Laurence Faivre5, Françoise Simon3, Robert Frank1, Guy Fontaine1, Eric Villard2, Catherine Coirault6, Bernard Hainque3,6 and Philippe Charron1,2,7,*

1 Département de Cardiologie, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75651 Paris, Cedex 13, France; 2 INSERM, UMR-S621, AP-HP, UPMC Université Paris 6, 91 Boulevard de l'Hôpital, 75013 Paris, France; 3 Service de Biochimie, Unité de Cardiogénétique et Myogénétique, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75651 Paris, Cedex 13, France; 4 Centre de Cardiologie, Centre Hospitalier Universitaire, 2-10 Boulevard Maréchal de Lattre de Tassigny BP77908, 21079 Dijon, Cedex, France; 5 Centre de Génétique, Centre Hospitalier Universitaire, 2-10 Boulevard Maréchal de Lattre de Tassigny BP77908, 21079 Dijon, Cedex, France; 6 INSERM U582, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75651 Paris, Cedex 13, France; 7 Département de Génétique, Hôpital Pitié-Salpêtrière, AP-HP, 47-83 Boulevard de l'Hôpital, 75651 Paris, Cedex 13, France

We report the case of a 41-year-old man with a diagnosis of sporadic arrhythmogenic right ventricular cardiomyopathy (ARVC). Genetic screening identified the heterozygous missense mutation R49H in the desmoglein-2 gene. The mutation was absent in both parents, and we demonstrated that it was a de novo mutation. To the best of our knowledge, this is the first description of a de novo mutation in ARVC. This has important implications, including for clinical practice, since individuals with sporadic ARVC caused by a de novo mutation can transmit the disease gene to 50% of their offspring. This suggests that the benefit of molecular genetics can be extended to sporadic ARVC and may improve genetic counselling.

* Corresponding author: Département de Génétique, Bâtiment Pinel, CHU Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France, Tel: +33 1 42 16 13 47, Fax: +33 1 42 16 13 64, Email: philippe.charron{at}psl.aphp.fr

Manuscript submitted 10 October 2008. Accepted after revision 8 December 2008.


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




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.