Myocardial Fibrosis in Glycogen Storage Disease Type III

A 32-year-old man was referred with exertional chest pain. He had been diagnosed with glycogen storage disease type IIIa (GSDIIIa) by liver biopsy in childhood. Cine cardiovascular magnetic resonance (CMR) demonstrated profound symmetrical hypertrophy (483 g) with impaired systolic function. Gadolinium-diethylene triamine penta-acetic acid (DTPA) rest perfusion demonstrated multifocal first pass mid-myocardial defects and late imaging demonstrated …