Fig. 11
Glycogen storage disease in a 29-year-old man with family history of juvenile sudden cardiac death and unexplained increased left ventricular wall thickness at echocardiography. a. Four-chamber T2WI shows an hyper-trabeculated appearance of the RV with subendocardial hyperintense signal related to “slow-flow” phenomenon caused by diffused hypokinesis. b. Four-chamber LGE-T1WI reveals a diffuse and homogeneous enhancement of the RV myocardium (black arrows) involving the free wall, apex, and right side of the interventricular septum (arrowheads). The late-enhancement pattern of the left ventricle is predominantly subepicardial (white arrows) involving the lateral wall. c. Electron microscopy image of endomyocardial biopsy shows massive accumulation of citosolic glycogen, sometimes engulfing autophagosoms (asterisk)