Danon Disease
Main Features
- Hypertropic Cardiomyopathy
- Skeletal myopathy
- Intellectual disability
Eye Findings
- Pigmentary Retinopathy (20%)
- Cone-Rod Dystrophy
Other Findings
- Cardiac conduction abnormalities
- Wolff-Parkinson-White syndrome
- other arrhythmias
- Heart failure
Etiology
- LAMP2 gene mutations- X-linked
- encodes the lysosome-associated membrane protein-2
- Males present earlier and have a more severe course often requiring heart transplant by the 3rd decade of life
- Histopathology
- autophagic vaculoes showing disrupted autophage