Skip Navigation



Europace Advance Access published online on March 16, 2006
Europace, doi:10.1093/europace/eul012
This Article
Right arrow Full Text (Rapid PDF)
Right arrow All Versions of this Article:
8/4/241    most recent
eul012v1
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 Anastasakis, A.
Right arrow Articles by Stefanadis, C.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Anastasakis, A.
Right arrow Articles by Stefanadis, C.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© The European Society of Cardiology 2006. All rights reserved
Received February 8, 2005
Accepted January 3, 2006

Article

Phenotype reveals genotype in a Greek long QT syndrome family

Aris Anastasakis 1, Christina-Maria Kotta 1 *, Stavros Kyriakogonas 1, Bernd Wollnik 2, Artemisia Theopistou 1, and Christodoulos Stefanadis 1

1 Division of Inherited Cardiovascular Diseases, 1st Department of Cardiology, University of Athens Medical School, 99 Michalakopoulou Street, Athens 11528, Greece
2 Department of Medical Genetics, Child Health Institute, University of Istanbul, Istanbul, Turkey

* To whom correspondence should be addressed.
Christina-Maria Kotta, E-mail: mckotta{at}hotmail.com


  Abstract

We aimed to verify the long QT syndrome (LQTS) genotype in a family with strong evidence of LQTS type 1 (LQT1) on the basis of so far established genotype-phenotype correlations. Genetic testing for mutations in the KCNQ1 potassium channel gene revealed an A341V mutation in three generations of the family. Existing genotype-phenotype correlations were correctly predictive of the genotype in the case of this family, despite the fact that there are no previously reported data for the Greek LQTS genetic pool. Thus, genotype-phenotype correlations are often a helpful tool in the management of LQTS patients and their families.

Keywords: Long QT syndrome; Syncope; Genotype; Phenotype.
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.