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

被引:28
作者
Strach, Katharina
Sommer, Torsten
Grohe, Christian
Meyer, Carsten
Fischer, Dirk
Walter, Maggie C.
Vorgerd, Matthias
Reilich, Peter
Baer, Harald
Reimann, Jens
Reuner, Ulrike
Germing, Alfried
Goebel, Hans Hilmar
Lochmuelller, Hanns
Wintersperger, Bernd
Schroeder, Rolf
机构
[1] Univ Hosp Bonn, Dept Radiol, D-53105 Bonn, Germany
[2] Univ Hosp Bonn, Dept Med Cardiol, D-53105 Bonn, Germany
[3] Univ Hosp Bonn, Dept Neurol, D-53105 Bonn, Germany
[4] KSSG St, MuskelzentrumlALS Clin, Gallen, Switzerland
[5] Univ Munich, Friedrich Baur Inst, D-80539 Munich, Germany
[6] Univ Munich, Dept Neurol, D-80539 Munich, Germany
[7] Univ Hosp Bergmannsheil, Dept Neurol, Bochum, Germany
[8] Univ Heidelberg Hosp, Dept Cardiol, Heidelberg, Germany
[9] Univ Hosp Dresden, Dept Neurol, Dresden, Germany
[10] Univ Hosp Bergmannsheil, Dept Cardiol, Bochum, Germany
[11] Johannes Gutenberg Univ Mainz, Med Ctr, Dept Neuropathol, D-6500 Mainz, Germany
[12] Univ Munich, Dept Clin Radiol, D-80539 Munich, Germany
[13] Univ Erlangen Nurnberg, Fac Med, Inst Neuropathol, Erlangen, Germany
基金
英国医学研究理事会;
关键词
congenital myopathy; desminopathy; cardiomyopathy; cardiac magnetic resonance imaging; MR delayed enhancement imaging;
D O I
10.1016/j.nmd.2008.03.012
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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. (C) 2008 Elsevier B.V. All rights reserved.
引用
收藏
页码:475 / 482
页数:8
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