J Cardiovasc Ultrasound.
2009 Mar;17(1):28-30. 10.4250/jcu.2009.17.1.28.
A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy
- Affiliations
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- 1Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital, Seoul, Korea. dgpark@hallym.or.kr
- 2Division of Cardiology, Department of Internal Medicine, Hallym University Chuncheon Sacred Heart Hospital, Chuncheon, Korea.
- KMID: 1473770
- DOI: http://doi.org/10.4250/jcu.2009.17.1.28
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.
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