Danon disease clinical features, evaluation, and management

Circulation: Heart Failure

Volumn 7, Issue 5, 2014, Pages 843-849

  D'souza, Ryan S ^a   Levandowski, Cecilia ^a   Slavov, Dobromir ^a   Graw, Sharon L ^a   Allen, Larry A ^a   Adler, Eric ^b   Mestroni, Luisa ^a   Taylor, Matthew R G ^a  

^a UNIVERSITY OF COLORADO   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Cardiomyopathy, dilated; Cardiomyopathy, hypertrophic; Genetics; Glycogen storage disease type IIb; Lysosomal a ociated membrane protein 2; Molecular biology; Mutation

Indexed keywords

ARTICLE; CARDIOMYOPATHY; CLINICAL EVALUATION; CLINICAL FEATURE; DANON DISEASE; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HEART ELECTROPHYSIOLOGY; HUMAN; MYOPATHY; NEUROLOGIC DISEASE; PRACTICE GUIDELINE; PRIORITY JOURNAL; SYSTEMATIC REVIEW;

EID: 84925861549     PISSN: 19413289     EISSN: 19413297     Source Type: Journal    
DOI: 10.1161/CIRCHEARTFAILURE.114.001105     Document Type: Article

References (46)

1. Danon MJ, Oh SJ, DiMauro S, Manaligod JR, Eastwood A, Naidu S, Schliselfeld LH. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981;31:51-57.
2. 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, Byrne 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.
3. Taylor MR, Ku L, Slavov D, Cavanaugh J, Boucek M, Zhu X, Graw S, Carniel E, Barnes C, Quan D, Prall R, Lovell MA, Mierau G, Ruegg P, Mandava N, Bristow MR, Towbin JA, Mestroni L; Familial Cardiomyopathy Registry. Danon disease presenting with dilated cardiomyopathy and a complex phenotype. J Hum Genet. 2007;52:830-835.
4. Froißart R, Maire I. Danon disease. Orphanet Encyclopedia. 2004. Available at: . Acceßed April 30, 2014.
5. Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol. 2006;13:90-95.
6. 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.
7. Arad M, Maron BJ, Gorham JM, Johnson WH Jr, 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.
8. Fanin M, Nascimbeni AC, Fulizio L, Spinazzi M, Melacini P, Angelini 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.
9. Fukuda M. Biogenesis of the lysosomal membrane. Subcell Biochem. 1994;22:199-230.
10. Cuervo AM, Dice JF. A receptor for the selective uptake and degradation of proteins by lysosomes. Science. 1996;273:501-503.
11. Majer F, Pelak O, Kalina T, Vlaskova H, Dvorakova L, Honzik T, Palecek T, Kuchynka P, Masek M, Zeman J, Elleder M, Sikora J. Mosaic tißue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics. J Inherit Metab Dis. 2014;37:117-124.
12. Konecki DS, Foetisch K, Zimmer KP, Schlotter M, Lichter-Konecki U. An alternatively spliced form of the human lysosome-aßociated membrane protein-2 gene is expreßed in a tißue-specific manner. Biochem Biophys Res Commun. 1995;215:757-767.
13. Cuervo AM, Dice JF. Unique properties of LAMP2a compared to other LAMP2 isoforms. J Cell Sci. 2000;113(Pt 24):4441-4450.
14. Fujiwara Y, Furuta A, Kikuchi H, Aizawa S, Hatanaka Y, Konya C, Uchida K, Yoshimura A, Tamai Y, Wada K, Kabuta T. Discovery of a novel type of autophagy targeting RNA. Autophagy. 2013;9:403-409.
15. Fujiwara Y, Kikuchi H, Aizawa S, Furuta A, Hatanaka Y, Konya C, Uchida K, Wada K, Kabuta T. Direct uptake and degradation of DNA by lysosomes. Autophagy. 2013;9:167-171.
16. Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011;13:563-568.
17. Hong D, Shi Z, Wang Z, Yuan Y. Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum. Clin Neuropathol. 2012;31:224-231.
18. van der Kooi AJ, van Langen IM, Aronica E, van Doorn PA, Wokke JH, Bruße E, Langerhorst CT, Bergin P, Dekker LR, dit Deprez RH, de Vißer M. Extension of the clinical spectrum of Danon disease. Neurology. 2008;70:1358-1359.
19. Bertini E, Donati MA, Broda P, Caßandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, Minetti C, Santorelli FM, Bruno C. Phenotypic heterogeneity in two unrelated Danon patients aßociated with the same LAMP-2 gene mutation. Neuropediatrics. 2005;36:309-313.
20. Thiadens AA, Slingerland NW, Florijn RJ, Vißer GH, Riemslag FC, Klaver CC. Cone-rod dystrophy can be a manifestation of Danon disease. Graefes Arch Clin Exp Ophthalmol. 2012;250:769-774.
21. Musumeci O, Rodolico C, Nishino I, Di Guardo G, Migliorato A, Aguennouz M, Mazzeo A, Meßina C, Vita G, Toscano A. Asymptomatic hyperCKemia in a case of Danon disease due to a mißense mutation in Lamp-2 gene. Neuromuscul Disord. 2005;15:409-411.
22. Prall FR, Drack A, Taylor M, Ku L, Olson JL, Gregory D, Mestroni L, Mandava N. Ophthalmic manifestations of Danon disease. Ophthalmology. 2006;113:1010-1013.
23. Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A, Munier FL. Retinopathy in Danon disease. Arch Ophthalmol. 2007;125:231-236.
24. Tanaka Y, Guhde G, Suter A, Eskelinen EL, Hartmann D, Lüllmann-Rauch R, Janßen PM, Blanz J, von Figura K, Saftig P. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature. 2000;406:902-906.
25. Sugie K, Yamamoto A, Murayama K, 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 features of genetically confirmed Danon disease. Neurology. 2002;58:1773-1778.
26. Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, Almquist AK, Baffa JM, Saul JP, Ho CY, Seidman J, Seidman CE. Clinical outcome and phenotypic expreßion in LAMP2 cardiomyopathy. JAMA. 2009;301:1253-1259.
27. Balmer C, Ballhausen D, Boßhard NU, Steinmann B, Boltshauser E, Bauersfeld U, Superti-Furga A. Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene. Eur J Pediatr. 2005;164:509-514.
28. Marriott HJ. Electrocardiographic abnormalities, conduction disorders and arrhythmias in primary myocardial disease. Prog Cardiovasc Dis. 1964;7:99-114.
29. Riggs JE, Schochet ß Jr, Gutmann L, Shanske S, Neal WA, DiMauro S. Lysosomal glycogen storage disease without acid maltase deficiency. Neurology. 1983;33:873-877.
30. Oliveira SM, Ehtisham J, Redwood CS, Ostman-Smith I, Blair EM, Watkins H. Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis. J Mol Cell Cardiol. 2003;35:1251-1255.
31. Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li GH, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kupershmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG. Transgenic mice overexpreßing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation. 2003;107:2850-2856.
32. Stevens-Lapsley JE, Kramer LR, Balter JE, Jirikowic J, Boucek D, Taylor M. Functional performance and muscle strength phenotypes in men and women with Danon disease. Muscle Nerve. 2010;42:908-914.
33. Hatz DE, Sharma A, Germer KE, Rolfsmeyer EA, Bowen JM. Psychosis in a patient with Danon cardiomyopathy. Gen Hosp Psychiatry. 2010;32:328-329.
34. Laforêt P, Charron P, Maisonobe T, Romero NB, Villard E, Sebillon P, Drouin-Garraud V, Dubourg O, Fardeau M, Komajda M, Eymard B. Charcot-Marie-Tooth features and maculopathy in a patient with Danon disease. Neurology. 2004;63:1535.
35. Dworzak F, Casazza F, Mora M, De Maria R, Gronda E, Baroldi G, Rimoldi M, Morandi L, Cornelio F. Lysosomal glycogen storage with normal acid maltase: a familial study with succeßful heart transplant. Neuromuscul Disord. 1994;4:243-247.
36. Lacoste-Collin L, Garcia V, Uro-Coste E, Arné-Bes MC, Durand D, Levade T, Delisle MB. Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation. Neuromuscul Disord. 2002;12:882-885.
37. Miani D, Taylor M, Mestroni L, D'Aurizio F, Finato N, Fanin M, Brigido S, Proclemer A. Sudden death aßociated with Danon disease in women. Am J Cardiol. 2012;109:406-411.
38. Yan C, Tanaka M, Sugie K, Nobutoki T, Woo M, Murase N, Higuchi Y, Noguchi S, Nonaka I, Hayashi YK, Nishino I. A new congenital form of X-linked autophagic vacuolar myopathy. Neurology. 2005;65:1132-1134.
39. Kaneda D, Sugie K, Yamamoto A, Matsumoto H, Kato T, Nonaka I, Nishino I. A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. Neurology. 2003;61:128-131.
40. Byrne E, Dennett X, Crotty B, Trounce I, Sands JM, Hawkins R, Hammond J, Anderson S, Haan EA, Pollard A. Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. Brain. 1986;109(Pt 3):523-536.
41. Katsumi Y, Tokonami F, Matsui M, Aii H, Nonaka I. [A case of glycogen storage disease with normal acid maltase accompanied with the abnormal platelet function]. Rinsho Shinkeigaku. 1994;34:827-831.
42. Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu ß, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW; American College of Cardiology Foundation/American Heart Aßociation Task Force on Practice Guidelines; American Aßociation for Thoracic Surgery; American Society of Echocardiography; American Society of Nuclear Cardiology; Heart Failure Society of America; Heart Rhythm Society; Society for Cardiovascular Angiography and Interventions; Society of Thoracic Surgeons. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Aßociation Task Force on Practice Guidelines. Circulation. 2011;124:2761-2796.
43. Piotrowska-Kownacka D, Kownacki L, Kuch M, Walczak E, Kosieradzka A, Fidzianska A, Krolicki L. Cardiovascular magnetic resonance findings in a case of Danon disease. J Cardiovasc Magn Reson. 2009;11:12.
44. Yang Z, Funke BH, Cripe LH, Vick GW 3rd, Mancini-Dinardo D, Peña LS, Kanter RJ, Wong B, Westerfield BH, Varela JJ, Fan Y, Towbin JA, Vatta M. LAMP2 microdeletions in patients with Danon disease. Circ Cardiovasc Genet. 2010;3:129-137.
45. Brodie S. Cone-rod dystrophy in Danon disease. Graefes Arch Clin Exp Ophthalmol. 2012;250:633.
46. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA; Heart Failure Society of America. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail. 2009;15:83-97.