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European Journal of Echocardiography 2005 6(4):243-250; doi:10.1016/j.euje.2004.09.010
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Copyright © 2004, The European Society of Cardiology

The use of Tissue Doppler Imaging for the assessment of changes in myocardial structure and function in inherited cardiomyopathies

J. De Backera,b,*, D. Matthysc, T.C. Gilleberta, A. De Paepeb and J. De Suttera

aDepartment of Cardiovascular Medicine, University Hospital, Ghent, Belgium
bDepartment of Medical Genetics, University Hospital, De Pintelaan 185, 9000 Gent, Belgium
cDepartment of Pediatrics, University Hospital, Ghent, Belgium

Received 29 June 2004; received in revised form 20 September 2004; accepted after revision 22 September 2004.

* Corresponding author. Tel.: +32 9 240 36 03; fax: +32 9 240 49 70. E-mail: julie.debacker@ugent.be


   Abstract

Although there is still a long way to go, our understanding of the genetic basis of cardiomyopathies – dilated or hypertrophic – has significantly improved over the past decade. This new and intriguing era of cardiogenetics has already answered some important questions concerning the pathophysiology of these disorders, but it has also raised some new questions: how do we define "presymptomatic" mutation carriers? Should we treat them? Do we have any diagnostic tools to identify the presymptomatic subjects in those families where the underlying mutation has not been identified yet?

To address at least part of these questions, there is a clear need for screening techniques in the early stage of the disease which have to be sensitive and non-invasive.

In recent years Tissue Doppler Imaging (TDI) has emerged as a well suited technique for these purposes and several interesting papers on this issue have been published.

This paper reviews the findings from TDI in several forms of inherited cardiomyopathy. Although the implementation of this technique in everyday clinical practice still requires some refinement, the results from these studies are encouraging and TDI is likely to be complementary to other established screening tools such as ECG and conventional echocardiography.

Keywords: Cardiomyopathy; Tissue Doppler Imaging; Genetic


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