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European Heart Journal Advance Access originally published online on July 27, 2006
European Heart Journal 2006 27(18):2150-2151; doi:10.1093/eurheartj/ehl172
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© The European Society of Cardiology 2006. All rights reserved. For Permissions, please e-mail: journals.permissions@oxfordjournals.org

Genotypes or phenotypes in cardiovascular diagnosis?

Dorte Damgaard1,* and Ole Faergeman2

1 Department of Medicine and Cardiology and Department of Neurology, Aarhus Sygehus, Aarhus, Denmark
2 Cardiovascular Medicine, National Heart and Lung Institute, Charing Cross Campus, Imperial College, London, UK

* Corresponding author. Tel: +45 86 97 90 67; Telefax: +45 89 49 76 49. E-mail address: dorte.damgaard@dadlnet.dk

This editorial refers to ‘Diagnosing familial hypercholesterolemia: the relevance of genetic testing’{dagger} by E.S. van Aalst-Cohen et al., on page 2240

The first 10% of the full text of this article appears below.

What should be the role of genetic testing in cardiovascular medicine? If we adopt genetic testing on a broad scale, moreover, should we also base diagnosis of disease on molecular genetic rather than clinical criteria whenever molecular genetic analysis is possible? These two questions arise from reading the report in this issue of the EHJ by van Aalst-Cohen et al. on familial hypercholesterolaemia (FH).1

The Dutch group of researchers is experienced in studying FH, which in many countries was the first cardiovascular disease for which genetic testing was implemented as part of a screening program. By screening relatives of an index patient for the particular mutation in the index patient known or thought to be responsible for the clinical picture of . . . [Full Text of this Article]


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Related articles in EHJ:

Diagnosing familial hypercholesterolaemia: the relevance of genetic testing
Emily S. van Aalst-Cohen, Angelique C.M. Jansen, Michael W.T. Tanck, Joep C. Defesche, Mieke D. Trip, Peter J. Lansberg, Anton F.H. Stalenhoef, and John J.P. Kastelein
EHJ 2006 27: 2240-2246. [Abstract] [FREE Full Text]