Journal of Cardiovascular Ultrasound  2009;17(1):28-30

doi:10.4250/jcu.2009.17.1.28

A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy.

So Yeon PARK 1 ; Dae Gyun PARK ; Hyun Hee CHOI ; Duck Hyoung YOON ; Sung Eun KIM ; Jun Hee LEE ; Kyoo Rok HAN ; Dong Jin OH

Affiliations

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Keywords

Danon disease; Hypertrophic cardiomyopathy; LAMP-2 gene

Country

Republic of Korea

Language

English

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.