Figure 1.

Clinical characteristics of RBM20 familial DCM. (A) Family pedigrees of two RBM20 DCM patients with an identical point mutation. Square = male; circle = female; black = affected; white = unaffected; gray = clinical status unknown; parallel diagonal lines = suspected DCM based on family history; slash through the symbol = deceased; + = mutant allele; − = wild-type allele; asterisk = proband whose skin fibroblasts were reprogrammed to hiPSCs. (B) Sequence chromatograms from RBM20 patients demonstrating the c.1906C>A, R636S missense mutation. (C) Representative four-chamber echocardiographic images of control (unaffected family member, IV-9) and patients with RBM20 DCM at end systole and diastole showing moderate LV dilatation. (D) Summary of clinical findings. LV, left ventricle; LVEF, left ventricular ejection fraction; LVID, left ventricular internal diameter; ECG, electrocardiogram; mm, millimeters; g, grams; g/m², grams per millimeter squared; F, female; M, male; ST-T, nonspecific ST-T wave changes; LVH, left ventricular hypertrophy.