Clinical manifestations and MRI features of Danon disease: a case series

Figures

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  Fig. 1. Pedigree of the family in this report. Squares: male individuals; circles: female individuals; slashes: deceased individuals; filled black shapes: affected patients; arrow: proband

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  Fig. 2. A 16-year-old male (proband, III-1) had exertional dyspnoea for 2 years along with intellectual disability. He was genetically diagnosed with DD (mutation site: c.963G > A). Cine images show concentric hypertrophic cardiomyopathy. The right ventricular wall is thickened (A), and the hyper-T2 signal manifests at the left ventricular free wall (B). LGE shows involvement at the left ventricular free wall (C). The native T1 value of the left ventricular free wall is high (D)

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  Fig. 3. A 37-year-old female (II-2), the proband’s mother, suffered from shortness of breath for > 3 months. Cine images show symmetric hypertrophic cardiomyopathy with systolic dysfunction in the left ventricle (A). The left ventricular mass was 187 g, LVEF was 13%, and the EDV and ESV were 221ml and 192ml, respectively. There was no obvious hyperintensity on T2 fat-saturated images (B). LGE shows extensive subendocardial involvement at the left ventricular free wall (C, D). The native T1 values of the left ventricular myocardium were elevated (E). The T2 values of the left ventricular free wall were elevated (F)

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  Fig. 4. A 39-year-old female (II-3), the proband’s aunt, suffered from shortness of breath and palpitation. Cine images show dilated cardiomyopathy with biventricular systolic dysfunction (A). The LV mass was 84.9 g, LVEF was 17%, and the EDV and ESV were 145ml and 120ml, respectively. An apical thrombus can be seen in the left ventricle. LGE shows basal-middle septum sparing and an apex with extensive transmural feather-like involvement at the left ventricular free wall (B). The native T1 values of the left ventricular myocardium were elevated (C). The T2 values of the left ventricular free wall were elevated (D)