Case Report: A novel MYBPC3 gene variant in a Chinese patient with hypertrophic cardiomyopathy and apical ventricular aneurysm, with a concurrent novel KCNJ5 gene variant

Figures

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  Figure 1. Patient's echocardiography findings. (A) Echocardiographic results at the time of hospitalization. (B) Relevant echocardiographic parameters. (C) Visually evident mid-ventricular obstruction during ventricular systole and an apical ventricular aneurysm. (D) Mid-ventricular pressure and flow velocity during ventricular systole. (E) Left ventricular global longitudinal strain. (F) Electrocardiogram findings at admission.

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  Figure 2. Patient's MRI findings. (A) Cardiac MRI, two-chamber view. (B) Cardiac MRI, three-chamber view. (C) Cardiac MRI, four-chamber view. All three panels show visually evident mid-ventricular obstruction during systole and an apical ventricular aneurysm. (D) Late gadolinium enhancement (LGE) image, two-chamber view. (E) Late gadolinium enhancement (LGE) image, three-chamber view. The highlighted area on the interventricular septum represents fibrosis. (F) Late gadolinium enhancement (LGE) image, short-axis view. The highlighted area on the interventricular septum represents fibrosis.

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  Figure 3. Sanger sequencing results and the pedigree of the family. (A) Sanger sequencing results showing the MYBPC3 gene variant NM_000256.3:c.278delA (p.Lys93ArgfsTer3) and the KCNJ5 gene variant NM_000256.3:c.464G > A (p.Arg155Gln). (B) Pedigree of the family showing the genotypes of the proband and affected relatives. Squares indicate males, and circles indicate females.