PMC7546790_01
PMC7546790_02
The main milestones of the proband's medical history. Reconstructed by the patient's reports and medical records.
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On cardiac MRI, the LV was spherical and severely dilated (EDD 71 mm, EDV 120 ml/m2) (Supplementary Figure 1).
Resting ECG. HR 98 bpm, sinus tachycardia, signs of hypertrophy of both atria and ventricles, and decreased votage of the R waves in standard leads.
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HR 98 bpm, sinus tachycardia, signs of hypertrophy of both atria and ventricles, and low R waves in standard leads (Figure 2). Holter 24-h In-frame 27 bp deletion leads to the shortening of cardiac myosin binding protein for nine amino acids in the fibronectin III 2 (C7) domain (Supplementary Figure 2).
Eshocardiography. On the left:a severe decrease in left ventricular EF (at this measurement of 9%); in the center:a lining clot in the apex of the left ventricle with dimensions of 4 mm x 18 mm; on the right:hypertrophy of the left ventricular wall to 15-16 mm.
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The endomyocardial biopsy of the right ventricle (10-50 micron scale). Hematoxylin eosin staining showed: the endocardium is thin. Cardiomyocytes with foci of enlightenment in the perinuclear zone, disarray, with homogenization of the cytoplasm. In individual cardiomyocytes, there are foci of myolysis with the formation of voids in the cytoplasm. Microvessels with red blood cell sludge phenomenon, sclerosed walls, proliferation of endothelial cells, stenosis of the lumen and single perivascular lymphohistiocytic cells. There are minor hemorrhages, mild sclerosis. Staining of congo red (in non-polarized and polarized light), Perls reaction, the PAS reaction are a negative.
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A combination of pathologically altered cardiomyocytes, productive vasculitis with thrombosis of individual vessels, and small perivascular lymphocytic-macrophage infiltrates (less than 14 cells) was detected (Figure 4).