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

• Park SY
• Park DG
• Choi HH
• Yoon DH
• Kim SE
• Lee JH
• Han KR
• Oh DJ

• 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.

Keyword

Danon disease; Hypertrophic cardiomyopathy; LAMP-2 gene

MeSH Terms

alpha-Glucosidases
Cardiomyopathies
Cardiomyopathy, Hypertrophic
Glycogen Storage Disease
Glycogen Storage Disease Type IIb
Humans
Intellectual Disability
Lysosomes
Membranes
Muscular Diseases
alpha-Glucosidases

Figure

• 

  Fig. 1 Electrocardiogram shows atrial flutter with rapid ventricular response.

• 

  Fig. 2 Two dimensional echocardiographic findings in 2007 (A) and 2004 (C). M-mode echocardiographic findings in 2007 (B). The left ventricular wall thickness decreased from 14 to 9 mm with time. Moreover, pericardial effusion was seen in the echocardiogram take in 2007.

Reference

1. Alcalai R, Seidman JG, Seidman CE. Genetic basis of hypertrophic cardiomyopaty: from bench to the clinics. J Cardiovasc Electrophysiol. 2008. 19:104–110.

2. Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002. 287:1308–1320.

3. Keren A, Syrris P, McKenna WJ. Hypertrophic cardiomyopathy: the genetic determiants of clinical disease expression. Nat Clin Pract Cardiovasc Med. 2008. 51:158–168.

4. Lind JM, Chiu C, Semsarian C. Genetic basis of hypertrophic cardiomyopathy. Expert Rev Cardiovasc Ther. 2006. 4:927–934.

5. Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med. 2005. 352:362–372.

6. Danon MJ, Oh SH, Di Mauro S, Manaligod JR, Eastwood A, Naidu S. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981. 31:51–57.

7. Charron P, Villard E, Sébillon P, Laforêt P, Maisonobe T, Duboscq-Bidot L, Romero N, Drouin-Garraud V, Frébourg T, Richard P, Eymard B, Komajda M. Danon's disease as a cause of hypertrophic cardiomyopathy: a systematic survey. Heart. 2004. 90:842–846.

8. Sugie K, Yamamoto A, Murayama BS, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, Lamperti C, Saitoh S, Byrne E, DiMauro S, Nonaka I, Hirano M, Nishino I. Clinicopathological feature of genetically confirmed Danon disease. Neurology. 2002. 58:1773–1778.

9. Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Anqelini C. Generalized Lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease. Am J Pathol. 2006. 168:1309–1320.

10. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byme E, Bonilla E, Nonaka I, DiMauro S, Hirano M. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 2000. 406:906–910.

11. Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T. LAMP-2 positive vacuolar myopahty with dilated cardiomyopathy. Intern Med. 2007. 46:757–760.

12. Taylor MR, Ku L, Slavov D, Cavanaugh j, Boucek M, Zhu X, Carniel E, Barnes C, Quan D, Prall R, Lovell MA, Mierau G, Ruegg P, Mandava N, Bristow MR, Towbin JA, Mestroni L. Danon disease presenting with dilated cardiomyopathy and a complex phenotype. J Hum Genet. 2007. 52:830–835.

13. Christine S. Genetic cause of inherited cardiac hypertrophy. Mayo Clin Proc. 2002. 77:1315–1319.

14. Arad M, Benson DW, perez-Atayde AR, McKenna WJ, Sparks EA, Kanter RJ, McGarry K, Seidman JG, Seidman CE. Constitutive active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest. 2002. 109:357–362.

15. Beer G, Reinecke P, Gabbert HE, Hort W, Kuhn H. Fabry disease in patients with hypertrophic cardiomyopathy (HCM). Z Kardiol. 2002. 91:992–1002.