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Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies

Strach, K. and Sommer, T. and Grohé, C. and Meyer, C. and Fischer, D. and Walter, M. C. and Vorgerd, M. and Reilich, P. and Bär, H. and Reimann, J. and Reuner, U. and Germing, A. and Goebel, H. H. and Lochmüller, H. and Wintersperger, B. and Schröder, R.. (2008) Clinical, genetic, and cardiac magnetic resonance imaging findings in primary desminopathies. Neuromuscular disorders, Vol. 18, H. 6. pp. 475-482.

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Official URL: http://edoc.unibas.ch/dok/A6003854

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Abstract

We report the clinical, genetic and cardiac magnetic resonance imaging (MRI) findings in 11 German patients with heterozygous E245D, D339Y, R350P and L377P desmin mutations and without cardiac symptoms. Clinical evaluation revealed a marked variability of skeletal muscle, respiratory and cardiac involvement even between patients with identical mutations, ranging from asymptomatic to severely affected. While echocardiography did not show any pathological findings in all 11 patients, cine MRI revealed focal left ventricular hypertrophy in 2 patients and MR delayed enhancement imaging displayed intramyocardial fibrosis in the left ventricle in 4 patients indicating early myocardial involvement. Our data argue against distinct genotype-phenotype correlations and suggest that comprehensive cardiac MRI is superior to conventional echocardiography for the detection of early and clinically asymptomatic stages of cardiomyopathy in desminopathy patients. Therefore, cardiac MRI may serve as a screening tool to identify patients at risk, which might benefit from early pharmacological and/or interventional (e.g. implantable cardioverter-defibrillator devices) therapy.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Neuro- und Entwicklungspädiatrie (Weber)
UniBasel Contributors:Fischer, Dirk
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:Pergamon Press
ISSN:0960-8966
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:25 Apr 2014 08:00
Deposited On:25 Apr 2014 08:00

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