case_images: PMC5460387_01
case_images: (a) Electrocardiogram showed left ventricular hypertrophy with ST changes. (b) Transthoracic echocardiography, long axis view, end-diastolic phase, left ventricular end-diastolic diameter = 54 mm, interventricular septal diameter = 10.6 mm, and left ventricular posterior wall diameter = 9.5 mm. (c) Transthoracic echocardiography, long axis view, end-systolic phase, and left ventricular end-systolic diameter = 48 mm. (d) Magnetic resonance imaging showed no delayed enhancement. (e) Positron emission tomography-computed tomography showed no remarkable findings. (f) Beta-methyl-p-123I-iodophenyl-pentadecanoic (123I-BMIPP) myocardial scintigraphy showed diffuse decreased accumulation except lateral wall.
case_images: CRIC2017-9473917.001.jpg
case_images: PMC5460387_01_CRIC2017-9473917.001.jpg
case_images: fig1
case_images: His electrocardiogram revealed normal sinus rhythm and complete left bundle branch block (QRS duration: 128 ms) (Figure 1(a)). Cardiac magnetic resonance imaging (MRI) showed no late gadolinium enhancement (LGE); positron emission tomography/computed tomography (PET-CT) showed no remarkable findings (Figures 1(d) and 1(e)). Beta-methyl-p-123I-iodophenyl-pentadecanoic (123I-BMIPP) myocardial scintigraphy revealed diffuse reduced uptake, except on the lateral wall (Figure 1(f)).
case_images: (a) Light micrographs from endomyocardial biopsy revealed vacuolar change in myocardial cells, especially around nucleus and perimysial fibrosis without inflammatory cells (hematoxylin eosin stain, bar: 20 mum). (b) Electron microscopic examination of the endomyocardial biopsy revealed mitochondrial deformations with various types (e.g., sausage-like, loop-like, small, or gigantic), bar: 1 mum. (c) Light micrographs of the muscle biopsy revealed ragged red fibers (hematoxylin eosin stain, bar: 100 mum). (d) Light micrographs of the muscle biopsy revealed decreased cytochrome c oxidase (COX) activity (COX stain, bar: 100 mum). (e) Light micrographs of the muscle biopsy revealed blood vessels strongly reactive (SSV) to succinate dehydrogenase (SDH) (SDH stain, bar: 100 mum). (f) Electron microscopic examination of gastric biopsy revealed normal mitochondria (x1,2000).
case_images: CRIC2017-9473917.002.jpg
case_images: PMC5460387_01_CRIC2017-9473917.002.jpg
case_images: fig2
case_images: Endomyocardial biopsy revealed vacuolar changes in the myocardial cells (especially around nucleus) and perimysial fibrosis without inflammatory cells (Figure 2(a)). Electron microscopic examination showed increased numbers of mitochondria with various types of deformations, differences in size, and rare fraction of myofibril (Figure 2(b)). Since the patient was quite lean, we performed a muscle biopsy, which revealed ragged red fibers without cytochrome c oxidase activity, which is compatible with mitochondrial myopathy (Figures 2(c)-2(e)). Electron microscopic examination showed no mitochondrial deformation (Figure 2(f)).