Danon Disease is an uncommon X-linked disease with predominant cardiac involvement.

Chromosome: Xq24

Gene affected: LAMP-2 (lysosome-associated membrane glycoprotein 2)


Inheritance: X-linked pattern


Males tend to be more severely affected than females.


Clinical findings include:

(1) concentric hypertrophic cardiomyopathy or dilated cardiomyopathy (childhood onset in males)

(2) cardiac conduction abnormalities, including ventricular arrhythmias

(3) pigmentary retinopathy with visual impairment, central scotoma and disturbed color vision

(4) cognitive dysfunction

(5) skeletal muscle weakness

(6) hepatomegaly with elevated AST and ALT

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