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

Author: 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
Author Information

1. Division of Cardiology, Department of Internal Medicine, Hallym University Kangdong Sacred Heart Hospital, Seoul, Korea. dgpark@hallym.or.kr
Publication Type:Case Report
Keywords: Danon disease; Hypertrophic cardiomyopathy; LAMP-2 gene
MeSH: alpha-Glucosidases; Cardiomyopathies; Cardiomyopathy, Hypertrophic; Glycogen Storage Disease; Glycogen Storage Disease Type IIb; Humans; Intellectual Disability; Lysosomes; Membranes; Muscular Diseases
From:Journal of Cardiovascular Ultrasound 2009;17(1):28-30
CountryRepublic 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.