Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I

Journal of Cardiovascular Magnetic Resonance

Research

Xiomara Q Rosales¹  Jerry R Mendell¹  Subha V Raman²  Orlando P Simonetti²  Philip Habib²  Sean J Moser²  Beth McCarthy²  Tam Tran²  Nicholas Dunn² 

[1] Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, 43205, Columbus, Ohio, USA;Department of Pediatrics and Neurology, The Ohio State University, 43210, Columbus, Ohio, USA;The Ohio State University, Davis Heart and Lung Research Institute, 43210, Columbus, Ohio, USA;

关键词: Cardiovascular Magnetic Resonance;    Late Gadolinium Enhancement;    Duchenne Muscular Dystrophy;    Myocardial Fibrosis;    Late Gadolinium Enhancement Imaging;   

DOI  :  10.1186/1532-429X-13-39

 received in 2011-02-28, accepted in 2011-08-04,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundLimb girdle muscular dystrophies (LGMD) are inclusive of 7 autosomal dominant and 14 autosomal recessive disorders featuring progressive muscle weakness and atrophy. Studies of cardiac function have not yet been well-defined in deficiencies of dysferlin (LGMD2B) and fukutin related protein (LGMD2I). In this study of patients with these two forms of limb girdle muscular dystrophy, cardiovascular magnetic resonance (CMR) was used to more specifically define markers of cardiomyopathy including systolic dysfunction, myocardial fibrosis, and diastolic dysfunction.MethodsConsecutive patients with genetically-proven LGMD types 2I (n = 7) and 2B (n = 9) and 8 control subjects were enrolled. All subjects underwent cardiac magnetic resonance (CMR) on a standard 1.5 Tesla clinical scanner with cine imaging for left ventricular (LV) volume and ejection fraction (EF) measurement, vector velocity analysis of cine data to calculate myocardial strain, and late post-gadolinium enhancement imaging (LGE) to assess for myocardial fibrosis.ResultsSixteen LGMD patients (7 LGMD2I, 9 LGMD2B), and 8 control subjects completed CMR. All but one patient had normal LV size and systolic function; one (type 2I) had severe dilated cardiomyopathy. Of 15 LGMD patients with normal systolic function, LGE imaging revealed focal myocardial fibrosis in 7 (47%). Peak systolic circumferential strain rates were similar in patients vs. controls: εendo was -23.8 ± 8.5vs. -23.9 ± 4.2%, εepi was -11.5 ± 1.7% vs. -10.1 ± 4.2% (p = NS for all). Five of 7 LGE-positive patients had grade I diastolic dysfunction [2I (n = 2), 2B (n = 3)]. that was not present in any LGE-negative patients or controls.ConclusionsLGMD2I and LGMD2B generally result in mild structural and functional cardiac abnormalities, though severe dilated cardiomyopathy may occur. Long-term studies are warranted to evaluate the prognostic significance of subclinical fibrosis detected by CMR in these patients.

【 授权许可】

Unknown   
© Rosales et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.