End-stage Hypertrophic Cardiomyopathy with Advanced Heart Failure in Patients Carrying MYH7 R453 Variants: A Case Series

Figures

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  Figure 1.. Family pedigree charts of patients with HCM carrying the MYH7 R453C variant. Black arrows indicate Patients 1 (A-III-1), 2 (A-II-2), and 3 (B-III-2). Genetic testing was performed in A-III-1, A-II-2, and B-III-2. Patients who developed HCM with LVSD are shown as black circles (females) or black boxes (males). According to the available medical records and medical interviews, the other family members were not diagnosed with HCM.

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  Figure 2.. Clinical courses of the three patients. All patients were diagnosed based on echocardiogram findings. The transition to end-stage HCM was defined as the first detection of a left ventricular ejection fraction of <50%. HCM: hypertrophic cardiomyopathy, RCM: restrictive cardiomyopathy, CRTD: cardiac resynchronization therapy defibrillator, LVAD: left ventricular assist device

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  Figure 3.. Echocardiographic parameters during the clinical course. Echocardiographic parameters from HCM onset to registration for heart transplantation. LVDd: left ventricular end-diastolic dimension, LVDs: left ventricular end-systolic dimension, IVST: interventricular septum thickness, PWT: posterior wall thickness, LVEF: left ventricular ejection fraction, CRTD: cardiac resynchronization therapy defibrillator

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  Figure 4.. Histopathological findings of myocardial biopsy samples. All specimens of the right ventricular myocardial biopsy were stained with Masson’s trichrome stain. Hypertrophic cardiomyocytes with distorted shapes and pleiotropic nuclei were observed in all patients. The myocardial sections of all patients showed a disorganized myocardial architecture, including cardiomyocyte disarray and interstitial fibrosis, stained in blue. Scale bar: 200 μm.

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  Figure 5.. Sanger sequence analyses. The results of direct Sanger sequencing using genomic DNA extracted from the peripheral blood of the patients. Genomic DNA and amino acid sequences are shown. The identified variants and substituted amino acids are highlighted in red.