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. 2021 Dec 9;25(1):103596. doi: 10.1016/j.isci.2021.103596

Figure 1.

Figure 1

Histopathological features of LV myocardial tissue differ between patients with HCM and NS-CM

(A) Exemplary transthoracic echocardiographic imaging of NS-CM patient 5 at the time of presentation for surgical intervention. Marked increase of the end-diastolic interventricular septal diameter (∗), of the end-diastolic left ventricular (LV) posterior wall (#), and reduced end-diastolic LV diameter (§) compared to an unaffected age- and sex-matched infant (CTRL) on parasternal long axis view. See also Figures S1–S8.

(B) Percentage of myosin heads in SRX and DRX conformations in human LV myocardial tissue from control (CTRL, n = 10 replicates from N = 2 patients), HCM (mutated MYH7, n = 9 replicates from N = 2 patients) or NS-CM patients (mutated RAF1, n = 12 replicates from N = 3 patients; mutated PTPN11, n = 12 replicates from N = 2 patients). Box-and-whiskers plot indicating the minimum, 25th percentile, median, 75th percentile, maximum, and all data points; p-values from one-way ANOVA with Tukey's multiple comparisons test.

(C–E) Representative images of LV myocardial tissue from age- and sex-matched control, NS-CM, and HCM patients stained with hematoxylin-eosin. Yellow arrowheads show examples of multinucleated cardiomyocytes (CMs); scale bars = 25 μm (left) and 100 μm (right) (C).

Corresponding percentage of multinucleated CMs (D) and CM density (E). Box-and-whiskers plots indicating the minimum, 25th percentile, median, 75th percentile, maximum, and all data points; p values from one-way ANOVA with Tukey's multiple comparisons test. (CTRL N = 6 patients; NS-CM N = 5 patients; HCM N = 6 patients). See also Figure S9.