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Europace Advance Access originally published online on March 16, 2006
Europace 2006 8(4):241-244; doi:10.1093/europace/eul012
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© The European Society of Cardiology 2006. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

ELECTROPHYSIOLOGY

Phenotype reveals genotype in a Greek long QT syndrome family

Aris Anastasakis1, Christina-Maria Kotta1,*, Stavros Kyriakogonas1, Bernd Wollnik2, Artemisia Theopistou1 and Christodoulos Stefanadis1

1 Division of Inherited Cardiovascular Diseases, 1st Department of CardiologyUniversity of Athens Medical School99 Michalakopoulou Street, Athens 11528 Greece; 2 Department of Medical GeneticsChild Health Institute, University of IstanbulIstanbul Turkey

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.

Key Words: Long QT syndrome, Syncope, Genotype, Phenotype

* Corresponding author. Tel: +30 210 7231780; fax: +30 210 7256535. E-mail address: mckotta{at}hotmail.com


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