A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy
2
조회
0
다운로드
0
인용
0
참고문헌
초록
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.
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.
참고문헌 (15)
- Alcalai R, "Genetic basis of hypertrophic cardiomyopaty: from bench to the clinics", J Cardiovasc Electrophisiol, 19, pp.104~110 (2008)
- Maron BJ, "Hypertrophic cardiomyopathy: a systematic review", JAMA, 287, pp.1308~1320 (2002)
- Keren A, "Hypertrophic cardiomyopathy: the genetic determiants of clinical disease expression", Nat Clinc Pract Cardiovasc Med, 51, pp.158~168 (2008)
- Lind JM, "Genetic basis of hypertrophic cardiomyopathy", Expert Rev Cardiovasc Ther, 4, pp.927~934 (2006)
- Arad M, "Glycogen storage disease presenting as hypertrophic cardiomyopathy", N Emgl J Med, 352, pp.362~372 (2005)
- Danon MJ, "Lysosomal glycogen storage disease with normal acid maltase", Neurology, 31, pp.51~57 (1981)
- Charron P, "Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey", Heart, 90, pp.842~846 (2004)
- Sugie K, "Clinicopathological feature of genetically confirmed Danon disease", Neurology, 58, pp.1773~1778 (2002)
- Fanin M, "Generalized Lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease", Am J Pathol, 168, pp.1309~1320 (2006)
- Nishino I, "Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)", Nature, 406, pp.906~910 (2000)
- Sugimoto S, "LAMP-2 positive vacuolar myopahty with dilated cardiomyopathy", Intern Med, 46, pp.757~760 (2007)
- Taylor MR, "Danon disease presenting with dilated cardiomyopathy and a complex phenotype", J Hum Genet, 52, pp.830~835 (2007)
- Christine S, "Genetic cause of inherited cardiac hypertrophy", Mayo Clin Proc, 77, pp.1315~1319 (2002)
- Arad M, "Constitutive active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy", J Clin Invest, 109, pp.357~362 (2002)
- Beer G, "Fabry disease inpatients with hypertrophic cardiomyopathy (HCM)", Z Kardiol, 91, pp.992~1002 (2002)