Open AccessFulminant Danon Disease in a Young Female Patient with a Novel LAMP2 Mutation
Author(s) -
Eric Adler,
AUTHOR_ID
Publication year - 2021
Publication title -
hsoa journal of clinical studies and medical case reports
Language(s) - English
Resource type - Journals
ISSN - 2378-8801
DOI - 10.24966/csmc-8801/1000119
Subject(s) - missense mutation , fulminant , medicine , cardiology , disease , heart failure , immunohistochemistry , mutation , biology , gene , genetics
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.