Fulminant Danon Disease in a Young Female Patient with a Novel LAMP2 Mutation

Abstract

A 14-year-old female presented for congestive heart failure with biventricular hypertrophy and severely depressed LVEF. Cardiac MRI findings of extensive LGE but sparing the mid septum, genetic tests reporting a LAMP2 missense mutation and LAMP2 protein staining in the minority of cardiac myocytesat immunohistochemistry suggested a Danon Disease diagnosis.