A Case Report of Danon Disease

Abstract

We present a case of a 21-year-old gentleman with background history of moderate learning disability, Type 1 Diabetes Mellitus and elevated ALT. Due to incidental finding of a double apical impulse and abnormal ECG was referred for cardiology review. His echocardiogram findings triggered a cascade of other investigations which eventually resulted into genetic testing that confirmed Danon disease. He had a high HCM risk-SCD score and therefore had an ICD implant but unfortunately due to poor diabetic control, he was unlisted from heart transplant list. About 5 years after his formal diagnosis, he developed decompensated and congestive heart failure despite optimal medical therapy. He unfortunately passed away due to end-stage heart failure.