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Danon disease: Two patients with atrial fibrillation in a single family and review of the literature

  • Authors:
    • Shaohua Guo
    • Linghuan Zhou
    • Renping Wang
    • Zhixin Lv
    • Hongzun Xu
    • Baoli Han
    • Panagiotis Korantzopoulos
    • Fuli Hu
    • Tong Liu
  • View Affiliations / Copyright

    Affiliations: Tianjin Key Laboratory of Ionic‑Molecular Function of Cardiovascular Disease, Department of Cardiology, Tianjin Institute of Cardiology, The Second Hospital of Tianjin Medical University, Tianjin 300211, P.R. China, Department of Cardiology, Shijiazhuang Great Wall Hospital of Integrated Traditional Chinese and Western Medicine, Shijiazhuang, Hebei 050035, P.R. China, First Department of Cardiology, University of Ioannina, Medical School, Ioannina 45110, Greece
    Copyright: © Guo et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1527-1532
    |
    Published online on: July 17, 2019
       https://doi.org/10.3892/etm.2019.7777
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Abstract

The present study reports on a family with two members affected by Danon disease but having different phenotypes. The clinical manifestations of Danon disease include cardiomyopathy, skeletal myopathy and different degrees of intellectual disability that varies greatly among patients. The present case study reports on two siblings, an older sister and a younger brother, with Danon disease from an affected pedigree, presenting with distinctly different phenotypes. The sister was diagnosed with dilated cardiomyopathy at the age of 26 years with an unfavorable outcome, while her younger brother presented with hypertrophic cardiomyopathy in a relatively stable state. The two probands shared the same mutation, c.974delTinsAA in exon 8, in the lysosomal‑associated membrane protein‑2 gene. Of note, the two patients had a pre‑excitation pattern in the electrocardiogram on initial presentation and later developed atrial fibrillation (AF), which markedly aggravated heart failure. To the best of our knowledge, AF has not been widely reported in patients with Danon disease. The development of AF may have a prognostic value under these circumstances.
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1 

Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, et al: Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 406:906–910. 2000. View Article : Google Scholar : PubMed/NCBI

2 

Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, Riggs JE, Colomer J, Iturriaga C, Meloni A, et al: Clinicopathological features of genetically confirmed danon disease. Neurology. 58:1773–1778. 2002. View Article : Google Scholar : PubMed/NCBI

3 

Boucek D, Jirikowic J and Taylor M: Natural history of Danon disease. Genet Med. 13:563–568. 2011. View Article : Google Scholar : PubMed/NCBI

4 

Liu Y, Wang F, Chen X, Liang Y, Deng H, Liao H, Rao F, Wei W, Zhang Q, Zhang B, et al: Fasciculoventricular pathways responsible for ventricular preexcitation in patients with danon disease. Circ Arrhythm Electrophysiol. 11:e0067042018. View Article : Google Scholar : PubMed/NCBI

5 

Rowin EJ, Maron BJ, Kiernan MS, Casey SA, Feldman DS, Hryniewicz KM, Chan RH, Harris KM, Udelson JE, DeNofrio D, et al: Advanced heart failure with preserved systolic function in nonobstructive hypertrophic cardiomyopathy: Under-recognized subset of candidates for heart transplant. Circ Heart Fail. 7:967–975. 2014. View Article : Google Scholar : PubMed/NCBI

6 

Fu L, Luo S, Cai S, Hong W, Guo Y, Wu J, Liu T, Zhao C, Li F, Huang H, et al: Identification of LAMP2 mutations in early-onset danon disease with hypertrophic cardiomyopathy by targeted next-generation sequencing. Am J Cardiol. 118:888–894. 2016. View Article : Google Scholar : PubMed/NCBI

7 

Taylor MR, Ku L, Slavov D, Cavanaugh J, Boucek M, Zhu X, Graw S, Carniel E, Barnes C, Quan D, et al: Danon disease presenting with dilated cardiomyopathy and a complex phenotype. J Hum Genet. 52:830–835. 2007. View Article : Google Scholar : PubMed/NCBI

8 

Dougu N, Joho S, Shan L, Shida T, Matsuki A, Uese K, Hirono K, Ichida F, Tanaka K, Nishino I and Inoue H: Novel LAMP-2 mutation in a family with Danon disease presenting with hypertrophic cardiomyopathy. Circ J. 73:376–380. 2009. View Article : Google Scholar : PubMed/NCBI

9 

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

10 

Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M and Sikora J: Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency. Gene. 498:183–195. 2012. View Article : Google Scholar : PubMed/NCBI

11 

Sugie K, Yoshizawa H, Onoue K, Nakanishi Y, Eura N, Ogawa M, Nakano T, Sakaguchi Y, Hayashi YK, Kishimoto T, et al: Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene. Neuropathology. 36:561–565. 2016. View Article : Google Scholar : PubMed/NCBI

12 

Chen XL, Zhao Y, Ke HP, Liu WT, Du ZF and Zhang XN: Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with danon disease. Gene. 507:174–176. 2012. View Article : Google Scholar : PubMed/NCBI

13 

Hedberg Oldfors C, Mathe G, Thomson K, Tulinius M, Karason K, Östman-Smith I and Oldfors A: Early onset cardiomyopathy in females with Danon disease. Neuromuscul Disord. 25:493–501. 2015. View Article : Google Scholar : PubMed/NCBI

14 

Schorderet DF, Cottet S, Lobrinus JA, Borruat FX, Balmer A and Munier FL: Retinopathy in Danon disease. Arch Ophthalmol. 125:231–236. 2007. View Article : Google Scholar : PubMed/NCBI

15 

Danon MJ, Oh SJ, DiMauro S, Manaligod JR, Eastwood A, Naidu S and Schliselfeld LH: Lysosomal glycogen storage disease with normal acid maltase. Neurology. 31:51–57. 1981. View Article : Google Scholar : PubMed/NCBI

16 

Burusnukul P, de Los Reyes EC, Yinger J and Boué DR: Danon disease: An unusual presentation of autism. Pediatr Neurol. 39:52–54. 2008. View Article : Google Scholar : PubMed/NCBI

17 

López-Sainz A, Salazar-Mendiguchía J, Garcia-Alvarez A, Campuzano Larrea O, Lopez-Garrido MÁ, Garcia-Guereta L, Fuentes Cañamero ME, Climent Payá V, Pena-Peña ML, Zorio-Grima E, et al: Clinical findings and prognosis of danon disease. An analysis of the Spanish multicenter danon Registry. Rev Esp Cardiol (English, Spanish). 72:479–486. 2018. View Article : Google Scholar

18 

Konrad T, Sonnenschein S, Schmidt FP, Mollnau H, Bock K, Ocete BQ, Münzel T, Theis C and Rostock T: Cardiac arrhythmias in patients with danon disease. Europace. 19:1204–1210. 2017.PubMed/NCBI

19 

García Seara FJ, Martínez Sande JL, Cid Alvarez B and González Juanatey JR: Wolff-Parkinson-White's syndrome and danon's disease. Med Clin (Barc) (Spanish). 130:2772013. View Article : Google Scholar

20 

D'Souza RS, Mestroni L and Taylor MRG: Danon disease for the cardiologist: Case report and review of the literature. J Community Hosp Intern Med Perspect. 7:107–114. 2017. View Article : Google Scholar : PubMed/NCBI

21 

Spinazzi M, Fanin M, Melacini P, Nascimbeni AC and Angelini C: Cardioembolic stroke in danon disease. Clin Genet. 73:388–390. 2008. View Article : Google Scholar : PubMed/NCBI

22 

D'Souza RS, Levandowski C, Slavov D, Graw SL, Allen LA, Adler E, Mestroni L and Taylor MR: Danon disease: Clinical features, evaluation, and management. Circ Heart Fail. 7:843–849. 2014. View Article : Google Scholar : PubMed/NCBI

23 

Bertini E, Donati MA, Broda P, Cassandrini D, Petrini S, Dionisi-Vici C, Ballerini L, Boldrini R, D'Amico A, Pasquini E, et al: Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation. Neuropediatrics. 36:309–313. 2005. View Article : Google Scholar : PubMed/NCBI

24 

Lines MA, Hewson S, Halliday W, Sabatini PJ, Stockley T, Dipch AI, Bowdin S and Siriwardena K: Danon disease due to a novel LAMP2 microduplication. JIMD Rep. 14:11–16. 2014. View Article : Google Scholar : PubMed/NCBI

25 

Miani D, Nucifora G, Piccoli G, Proclemer A and Badano LP: Incremental value of three-dimensional strain imaging in danon disease. Eur Heart J Cardiovasc Imaging. 13:8042012. View Article : Google Scholar : PubMed/NCBI

26 

Piotrowska-Kownacka D, Kownacki L, Kuch M, Walczak E, Kosieradzka A, Fidzianska A and Krolicki L: Cardiovascular magnetic resonance findings in a case of danon disease. J Cardiovasc Magn Reson. 11:122009. View Article : Google Scholar : PubMed/NCBI

27 

Le DD, Alvarez P, Barrios R, Arriaga M, Cherry M, Shah D and Lin CH: Hypertrophic cardiomyopathy with unusual extensive scarring pattern: Danon disease. Methodist DeBakey Cardiovasc J. 12:227–229. 2016. View Article : Google Scholar : PubMed/NCBI

28 

Kitahara H, Nawata K, Kinoshita O, Itoda Y, Shintani Y, Fukayama M and Ono M: Implantation of a left ventricular assist device for danon cardiomyopathy. Ann Thorac Surg. 103:e39–e41. 2017. View Article : Google Scholar : PubMed/NCBI

29 

Zaki A, Zaidi A, Newman WG and Garratt CJ: Advantages of a subcutaneous implantable cardioverter-defibrillator in LAMP2 hypertrophic cardiomyopathy. J Cardiovasc Electrophysiol. 24:1051–1053. 2013. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Guo S, Zhou L, Wang R, Lv Z, Xu H, Han B, Korantzopoulos P, Hu F and Liu T: Danon disease: Two patients with atrial fibrillation in a single family and review of the literature. Exp Ther Med 18: 1527-1532, 2019.
APA
Guo, S., Zhou, L., Wang, R., Lv, Z., Xu, H., Han, B. ... Liu, T. (2019). Danon disease: Two patients with atrial fibrillation in a single family and review of the literature. Experimental and Therapeutic Medicine, 18, 1527-1532. https://doi.org/10.3892/etm.2019.7777
MLA
Guo, S., Zhou, L., Wang, R., Lv, Z., Xu, H., Han, B., Korantzopoulos, P., Hu, F., Liu, T."Danon disease: Two patients with atrial fibrillation in a single family and review of the literature". Experimental and Therapeutic Medicine 18.3 (2019): 1527-1532.
Chicago
Guo, S., Zhou, L., Wang, R., Lv, Z., Xu, H., Han, B., Korantzopoulos, P., Hu, F., Liu, T."Danon disease: Two patients with atrial fibrillation in a single family and review of the literature". Experimental and Therapeutic Medicine 18, no. 3 (2019): 1527-1532. https://doi.org/10.3892/etm.2019.7777
Copy and paste a formatted citation
x
Spandidos Publications style
Guo S, Zhou L, Wang R, Lv Z, Xu H, Han B, Korantzopoulos P, Hu F and Liu T: Danon disease: Two patients with atrial fibrillation in a single family and review of the literature. Exp Ther Med 18: 1527-1532, 2019.
APA
Guo, S., Zhou, L., Wang, R., Lv, Z., Xu, H., Han, B. ... Liu, T. (2019). Danon disease: Two patients with atrial fibrillation in a single family and review of the literature. Experimental and Therapeutic Medicine, 18, 1527-1532. https://doi.org/10.3892/etm.2019.7777
MLA
Guo, S., Zhou, L., Wang, R., Lv, Z., Xu, H., Han, B., Korantzopoulos, P., Hu, F., Liu, T."Danon disease: Two patients with atrial fibrillation in a single family and review of the literature". Experimental and Therapeutic Medicine 18.3 (2019): 1527-1532.
Chicago
Guo, S., Zhou, L., Wang, R., Lv, Z., Xu, H., Han, B., Korantzopoulos, P., Hu, F., Liu, T."Danon disease: Two patients with atrial fibrillation in a single family and review of the literature". Experimental and Therapeutic Medicine 18, no. 3 (2019): 1527-1532. https://doi.org/10.3892/etm.2019.7777
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