Fig. 3.

Echocardiography (ECHO) findings before ERT in two siblings.

A. Patient 1 at 4 months of age and before ERT. ECHO shows remarkable left ventricular wall thickening with a left ventricular end-diastolic posterior wall thickness (PWd) of 14 mm (328% of normal) and an inter-ventricular septum end-diastolic thickness (IVSd) of 12 mm (307% of normal). The left ventricular end-diastolic dimension (LVIDd) was 25.8 mm (98% of normal), and there was no left ventricular outflow stenosis.

B. Patient 2 at birth and before ERT.

LVMI was 120 g/m² (198% of normal), which was calculated by ECHO.