A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations

Figure 2

Short-axis and four chamber cine images from the initial and latest cardiovascular magnetic resonance scans of I:1 (a, b) and (c, d) II:1 from family A. Top row for each set of four images shows cine images, and the bottom row shows late gadolinium enhancement images. (a) On the first study, there is increased left ventricular wall thickness (maximum 12 mm, white arrowheads). No late gadolinium enhancement is present. (b) The latest scan shows marked asymmetric left ventricular hypertrophy (maximum 22 mm, dotted arrows) with patchy myocardial fibrosis (white arrows). (c) The first cardiovascular magnetic resonance scan showed moderate asymmetric septal hypertrophy (maximum 16 mm, white arrowheads) which appears to have mildly increased on the latest scan ((d), white arrows). (c, d) No areas of late gadolinium enhancement are identified.