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Cardiovascular Research 2003 57(2):298-301; doi:10.1016/S0008-6363(02)00781-2
© 2003 by European Society of Cardiology
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Copyright © 2003, European Society of Cardiology

Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations

Prediction of clinical status—is molecular genetics a new tool for the management of hypertrophic cardiomyopathy in clinical practice?

C Hengstenberga,*, J Erdmanna and P Charronb

aDepartment of Internal Medicine, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053 Regensburg, Germany
bDepartment of Genetics, and Department of Cardiology, Hôpital Pitié-Salpêtrière, Paris, France

christian.hengstenberg@klinik.uni-regensburg.de

* Corresponding author. Tel.: +49-941-944-7211; fax: +49-941-944-7235.

Received 13 November 2002; accepted 13 November 2002

The first 150 words of the full text of this article appear below.

See article by Havndrup et al. [1] (pages 347–357) in this issue.


   1. Introduction
 
During the last decade, there was a major breakthrough in the molecular genetics of hypertrophic cardiomyopathy (HCM) and a total of nine genes could be identified to cause HCM (for review see [2]). Since all of these genes code for sarcomeric proteins, it has been hypothesised that HCM is a disease of the sarcomere [3]. The abnormal function of the sarcomere is, thus, the primary and hypertrophy of the myocardium the secondary abnormality [4,5].

However, HCM exposes phenotypic heterogeneity which means that with a certain gene mutation (e.g. a mutation in the β-MHC gene), there is a wide range of clinical features, such as a variable degree of LV hypertrophy, a variable age of onset, and a variable degree of risk for sudden cardiac death (SCD) [6]. Furthermore, the risk for SCD is probably . . . [Full Text of this Article]


   2. Implications for the clinician
 
2.1 Genetic testing as prognostic tool in HCM patients
2.2 Pre-symptomatic genetic testing in relatives of HCM patients
2.3 Genetic testing as a diagnostic tool
2.4 Genetic testing as a prenatal diagnosis

   3. Implications for the molecular biologist
 

   4. Conclusions
 

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