Cardiac involvement in a female carrier of Duchenne muscular dystrophy

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Cardiac involvement in a female carrier of Duchenne muscular dystrophy Thomas Walcher, Markus Kunze, Peter Steinbach, Anne-Dorte Sperfeld, Christof Burgstahler, Vinzenz Hombach, Jan Torzewski International Journal of Cardiology Volume 138, Issue 3, Pages 302-305 (February 2010) DOI: 10.1016/j.ijcard.2008.06.084 Copyright © 2008 Elsevier Ireland Ltd Terms and Conditions

Fig. 1 Cardiac magnetic resonance imaging. A: The 4-chamber view displays myocardial wall abnormalities with areas of wall thinning and irregular border of the endocardial wall (arrow). B: Late enhancement analysis using gradient echo sequence with a 180° inversion recovery prepulse shows areas with transmural, intramural (midwall) and subepicardial late enhancement (arrows). International Journal of Cardiology 2010 138, 302-305DOI: (10.1016/j.ijcard.2008.06.084) Copyright © 2008 Elsevier Ireland Ltd Terms and Conditions

Fig. 2 Myocardial biopsy. A: HE-stain (immunohistochemistry): myocardial biopsy showing cardiomyocytes of variable diameters (10–40 µm) and intercellular fibrosis. B: CD 68-stain (immunohistochemistry): myocardial biopsy showing macrophage infiltrates (arrow). C: Utrophin-stain (immunofluorescence microscopy): cardiomyocytes displaying utrophin-positivity. D: Dystrophin 1-stain (immunofluorescence microscopy): cardiomyocytes displaying disrupted or down-regulated dystrophin 1. E: Dystrophin 3-stain (immunofluorescence microscopy): cardiomyocytes displaying disrupted or down-regulated dystrophin 3. F: Spectrin-stain (immunofluorescence microscopy): cardiomyocytes displaying spectrin positivity. International Journal of Cardiology 2010 138, 302-305DOI: (10.1016/j.ijcard.2008.06.084) Copyright © 2008 Elsevier Ireland Ltd Terms and Conditions

Fig. 3 Genetic analysis. A: Multiplex Ligation-dependant Probe Amplification (MLPA): increased copy numbers of DMD exon 2 were detected. The copy numbers of exons (bars) were calculated by comparing the peak heights in the patient's MPLA profile (Patient) with data from normal females (Control). B. Quantitative Southern blotting of the patient's DNA (P): increased signal density of exon 2 compared to normal male and female controls, indicating duplication of exon 2 on one of the patient's DMD alleles. As loading control, the blot was rehybridised to probe Ox1.9 of the X-linked FMR1 gene. International Journal of Cardiology 2010 138, 302-305DOI: (10.1016/j.ijcard.2008.06.084) Copyright © 2008 Elsevier Ireland Ltd Terms and Conditions