A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy

ABSTRACT

Danon disease is characterized clinically by the triad of cardiomyopathy, myopathy and mental retardation. It was originally reported as a lysosomal glycogen storage disease with normal acid maltase by Danon. Danon disease results from mutations in lysosome associated membrane protein-2 (LAMP-2) gene. The LAMP-2 gene is located on Xq24-25. We report a case of suspected Danon disease in patient who had hypertrophic cardiomyopathy and mental retardation along with abnormal findings in electromyography.