PMC6382902_01
Two-dimensional echocardiography of the proband. (a) The left ventricular chamber size of the proband is normal, but the left ventricular wall is thickened, measuring between 13 and 18 mm (arrow). (b) There is no abnormality of the left ventricular systolic activity. The left ventricular ejection fraction is 57%. The right ventricular free wall has a thickness of 7 mm (arrow). (c, d) The right ventricular chamber size is normal. Doppler echocardiography shows an impaired left ventricular diastolic function. Pulsed Doppler imaging (E/A>1); Doppler tissue imaging (E'/A'<1) (arrow)
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F3
The size of the left ventricular chamber was normal, and there was no abnormality in the left ventricular systolic activity, with a left ventricular ejection fraction (LVEF) of 57% (Fig. 3).
Electrocardiogram, cardiac magnetic resonance imaging, and T2-weighted cardiac imaging of the proband. (a) The electrocardiogram of the proband shows sinus tachycardia, ST-T changes, and a heart rate of 102 beats per min. (b) Cardiac magnetic resonance imaging shows left ventricular wall thickening, with a diastolic wall thickness of 17 mm. T2-weighted enhanced imaging shows heterogeneous enhancement, the left ventricular myocardial signal is not uniform, there is scattered patchy hyperintensity, and there is enhancement of the left ventricular anterior wall and anterior septum, which shows patchy enhancing lesions (arrow). (c) Diffusion-weighted imaging shows left ventricular myocardial hyperintensity and a lack of uniform distribution. The anterior wall, inferior wall, and lateral wall of the left ventricle and the interventricular septum are seen to be involved (arrow)
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F4
Cardiac MRI findings were consistent with cardiomyopathy (Fig. 4).
The 99mTc-macro aggregated albumin perfusion single-photon emission computed tomography images and lung function studies in the proband. (a, b) The images show that both lungs show no abnormalities, and that the radioactive signal is weak with no defective areas. The 99mTc-macro aggregated albumin perfusion single-photon emission computed tomography images show clear development of both lungs, with normal ventilation-perfusion matching. (c) The lung function studies show normal to moderate decrease in lung capacity, with a normal residual volume. FEV1 is normal, with moderate restrictive ventilatory function. FEV1, forced expiratory volume in the first second
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F5
Examination of the respiratory system showed that the patient had normal respiratory function, indicating that primary pulmonary disease was not the cause of pulmonary hypertension (Fig. 5).
PMC6382902_02
The family pedigree and sequence chromatograms with results of the polymorphism phenotype analysis. (a) The family pedigree studied. Squares represent male individuals, circles represent female individuals, slashes represent deceased individuals, black area is the index patient, and arrow represents the proband. (b) Sequence chromatograms show the presence of mutation MT-ND5 (c.1315A>G and p.Thr439Ala) in the studied patient (arrow) and its absence in the family. (c) Results of the Polymorphism Phenotyping v2 analysis predicting the physical abnormalities associated with the p.439T>A substitution in the ND5 protein
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F1
Sanger verification showed that both the proband and her maternal members carried the mutation site, which was further confirmed by the clinical diagnosis of mitochondrial cardiomyopathy in this family (Fig. 1b, 1c).
Photomicrographs of the skeletal muscle biopsy histology. (a) H&E stained skeletal muscle tissue sections (magnification x200) show that the size of muscle cells is varied, but their shape is regular. Many atrophic skeletal muscle fibers are present, but there are no necrosis or regeneration of muscle cells and no hyperplasia of the muscle fibers. (b) Skeletal muscle biopsy stained with MGT shows "ragged red fibers" (arrow). (c) Skeletal muscle biopsy stained with SDH. (d) Skeletal muscle biopsy stained with NADH-tetrazolium reductase shows a few "ragged blue fibers" (arrow).. H&E - hematoxylin and eosin; MGT - modified Gomori trichrome; SDH - succinate dehydrogenase; NADH - nicotinamide adenine dinucleotide hydrate
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F6
On biopsy of the skeletal muscle of the left biceps for frozen section and histochemical staining, pathological findings showed variation in the size of the muscle cells, with many atrophic fibers and "ragged red fibers" and a small number of "ragged blue fibers", which was consistent with the diagnosis of mitochondrial myopathy (Fig. 6).