Cardiac delayed enhancement distribution in extralysosomial glycogen storage disease

We describe magnetic resonance (MR) aspect of cardiac glycogenesis in a 49-years old man, presented a progressively declining cardiac function and negative coronary angiography. Delayed enhancement MR confirmed non-ischemic pattern with unusual diffuse distribution of Gadolinium. Cardiac biopsy revealed a Glycogen Storage Disease, extra-lysosomial type. Cardiac MR with analysis of delayed enhancement distribution is an emerging tool that can discriminate between ischemic and non-ischemic diseases; however to identify the precise aetiology of a non-ischemic distribution, myocardial biopsy is still needed.