Clinical course and echocardiography findings. The upper panel shows TTE results. On days 1 and 3, the intraventricular septum (IVS) bows into the left ventricle (LV). This finding is not seen on days 5 and 7. IVIg, intravenous immunoglobin; RV, right ventricle.
The c.415-10G>A mutation results in aberrant splicing. A, RT-PCR. The upper band (186 bp) was detected in patient RNA but not in normal subject RNA. B, the c.415-10G>A mutation resulted in a new splice acceptor site (underlined) and aberrant splicing, which caused the frame shift mutation.