Fig. 1: Clinical profile of a family with HCM.
From: Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
A Family pedigree showing the inheritance of cardiomyopathy. Squares denote males and circles denote females. Black symbols indicate affected individuals and open symbols indicate unaffected individuals. Gray symbols indicate individuals showing left ventricular hypertrophy on an electrocardiogram. The arrow indicates patients diagnosed with cardiomyopathy. P proband, d death, E genetic evaluation, + presence of RBM20 variant, − absence of RBM20 variant. B Short-axis images of cardiac magnetic resonance (CMR) for the proband (III-3) and her mother (II-2). The top and middle rows present end-diastolic and end-systolic cine images, respectively, and the bottom row shows extracellular volume (ECV) fraction mapping. Both III-3 and II-2 demonstrated elevated ECV (light green colored, arrowheads), primarily in the ventricular septum. RV right ventricle, LV left ventricle.
