A Case Study and Literature Review of the Diagnosis of Danon Disease in Patients Presenting Only with Severe Cardiac Symptoms

References

• Nishino I, Fu J, Tanji K, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 2000;406(6798):906–910.
   PubMed Web of Science ®Google Scholar
• Danon MJ, Oh SJ, Dimauro S, et al. Lysosomal glycogen storage disease with normal acid maltase. Neurology. 1981;31(1):51–57. doi:10.1212/WNL.31.1.51
   PubMed Web of Science ®Google Scholar
• D’Souza RS, Levandowski C, Slavov D, et al. Danon disease: clinical features, evaluation, and management. Circ Heart Fail. 2014;7(5):843–849. doi:10.1161/CIRCHEARTFAILURE.114.001105
   PubMed Web of Science ®Google Scholar
• Maron BJ, Roberts WC, Arad M, et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA. 2009;301:1253–1259.
   PubMed Web of Science ®Google Scholar
• Thakur R, Afzal A, Carey SA, et al. Repeat cardiac transplant indicated by severe cardiac allograft vasculopathy in a patient with Danon disease. Rev Cardiovasc Med. 2018;19(2):69–71. doi:10.31083/j.rcm.2018.02.903
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–423. doi:10.1038/gim.2015.30
   PubMed Web of Science ®Google Scholar
• Brambatti M, Caspi O, Maolo A, et al. Danon disease: gender differences in presentation and outcome. Int J Cardiol. 2019;286:92–98.
   PubMed Web of Science ®Google Scholar
• Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol. 2006;13(2):90–95. doi:10.1016/j.spen.2006.06.004
   PubMedGoogle Scholar
• Arad M, Maron BJ, Gorham JM, et al. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. New Engl J Med. 2005;352(4):362–372. doi:10.1056/NEJMoa033349
   PubMed Web of Science ®Google Scholar
• Charron P, Villard E, Sebillon P, et al. Danon’s disease as a cause of hypertrophic cardiomyopathy: a systematic survey. J Med Genet. 2004;41(10):751.
   Google Scholar
• Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011;13(6):563–568. doi:10.1097/GIM.0b013e31820ad795
   PubMed Web of Science ®Google Scholar
• Antopol W, Boas EP, Levison W, Tuchman LR Cardiac hypertrophy caused by glycogen storage disease in a fifteen-year-old boy.Am. Heart J. 1940;20:546–556. doi:10.1016/S0002-8703(40)90933-4
   Google Scholar
• Cheng Z, Fang Q. Danon disease: focusing on heart. J Hum Genet. 2012;57(7):407–410. doi:10.1038/jhg.2012.72
   PubMed Web of Science ®Google Scholar
• Roos JCP, Daniels MJ, Morris E, et al. Heterogeneity in a large pedigree with Danon disease: implications for pathogenesis and management. Mol Genet Metab. 2018;123(2):177–183. doi:10.1016/j.ymgme.2017.06.008
   PubMed Web of Science ®Google Scholar
• Marino M, Musumeci O, Paleologo G, et al. Ischemic stroke due to hypoperfusion in a patient with a previously unrecognized Danon disease. Neuromuscular Disord. 2016;26(12):890–894. doi:10.1016/j.nmd.2016.09.025
   PubMed Web of Science ®Google Scholar
• Sabourdy F, Michelakakis H, Anastasakis A, et al. Danon disease: further clinical and molecular heterogeneity. Muscle Nerve. 2009;39(6):837–844.
   PubMed Web of Science ®Google Scholar
• Csányi B, Popoiu A, Hategan L, et al. Identification of two novel LAMP2 gene mutations in Danon disease. Can J Cardio. 2016;32(11):1355. e23–1355. e30. doi:10.1016/j.cjca.2016.02.071
   PubMed Web of Science ®Google Scholar
• Yu L, Wan K, Han Y, et al. A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy. Eur Heart J. 2018;39(34):3263–3264. doi:10.1093/eurheartj/ehx722
   PubMed Web of Science ®Google Scholar
• Guo S, Zhou L, Wang R, et al. Danon disease: two patients with atrial fibrillation in a single family and review of the literature. Exp Ther Med. 2019;18(3):1527–1532.
   PubMed Web of Science ®Google Scholar
• Sternick EB, Oliva A, Gerken LM, et al. Clinical, electrocardiographic, and electrophysiologic characteristics of patients with a fasciculoventricular pathway: the role of PRKAG2 mutation. Heart Rhythm. 2011;8(1):58–64. doi:10.1016/j.hrthm.2010.09.081
   PubMed Web of Science ®Google Scholar
• Patel VV, Arad M, Moskowitz IP, et al. Electrophysiologic characterization and postnatal development of ventricular pre-excitation in a mouse model of cardiac hypertrophy and Wolff-Parkinson-White syndrome. J Am Coll Cardiol. 2003;42(5):942–951. doi:10.1016/S0735-1097(03)00850-7
   PubMed Web of Science ®Google Scholar
• Macías Y, Tretter JT, Anderson RH, et al. Miniseries 1-Part IV: how frequent are fasciculo-ventricular connections in the normal heart? Europace. 2022;24(3):464–472. doi:10.1093/europace/euab286
   PubMed Web of Science ®Google Scholar
• Konrad T, Sonnenschein S, Schmidt FP, et al. Cardiac arrhythmias in patients with Danon disease. Ep Europace. 2017;19(7):1204–1210. doi:10.1093/europace/euw215
   PubMed Web of Science ®Google Scholar
• López-Sainz Á, Salazar-Mendiguchía J, García-álvarez A, et al. Clinical findings and prognosis of Danon disease. an analysis of the Spanish Multicenter Danon Registry. Revista Española de Cardiología. 2019;72(6):479–486. doi:10.1016/j.recesp.2018.04.027
   PubMed Web of Science ®Google Scholar
• Spinazzi M, Fanin M, Melacini P, et al. Cardioembolic stroke in Danon disease. Clin Genet. 2008;73(4):388–390. doi:10.1111/j.1399-0004.2008.00971.x
   PubMed Web of Science ®Google Scholar
• Cheng Z, Cui Q, Tian Z, et al. Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy. Eur Heart J. 2012;33(5):649–656.
   PubMed Web of Science ®Google Scholar
• Jhaveri S, Herber J, Zahka K, et al. Arrhythmias and fasciculoventricular pathways in patients with Danon disease: a single center experience. J Cardiovasc Electrophysiol. 2019;30(10):1932–1938. doi:10.1111/jce.14049
   PubMed Web of Science ®Google Scholar
• Kim J, Parikh P, Mahboob M, et al. Asymptomatic young man with Danon disease. Tex Heart Inst J. 2014;41(3):332–334. doi:10.14503/THIJ-13-3279
   PubMed Web of Science ®Google Scholar
• Kawahara C, Tsutamoto T, Nishiyama K, et al. Prognostic role of high-sensitivity cardiac troponin T in patients with nonischemic dilated cardiomyopathy. Circ J. 2011;75(3):656–661. doi:10.1253/circj.CJ-10-0837
   PubMed Web of Science ®Google Scholar
• Kubo T, Kitaoka H, Yamanaka S, et al. Significance of high-sensitivity cardiac troponin T in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2013;62(14):1252–1259. doi:10.1016/j.jacc.2013.03.055
   PubMed Web of Science ®Google Scholar
• Braksator W, Chybowska B, Kuch M, et al. Noninvasive characterization of a case of Danon disease. Revista Española de Cardiología. 2010;63(4):493–495.
   PubMed Web of Science ®Google Scholar
• Sugie K, Yoshizawa H, Onoue K, 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. 2016;36(6):561–565. doi:10.1111/neup.12307
   PubMed Web of Science ®Google Scholar
• Yardeni M, Weisman O, Mandel H, et al. Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation). Am J Med Genet A. 2017;173(9):2461–2466. doi:10.1002/ajmg.a.38320
   PubMed Web of Science ®Google Scholar
• Sugie K, Komaki H, Eura N, et al. A nationwide survey on Danon disease in Japan. Int J Mol Sci. 2018;19(11):3507. doi:10.3390/ijms19113507
   PubMed Web of Science ®Google Scholar
• Cenacchi G, Papa V, Pegoraro V, et al. Danon disease: review of natural history and recent advances. Neuropath Appl Neuro. 2019;46(4):303–322.
   PubMed Web of Science ®Google Scholar
• Wilde AAM, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases. Heart Rhythm. 2022;19(7):e1–e60. doi:10.1016/j.hrthm.2022.03.1225
   PubMed Web of Science ®Google Scholar
• Gersh BJ, Maron BJ, Bonow RO, et al.; 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(24):2761–2796. PMID: 22068435. doi:10.1161/CIR.0b013e318223e230
   PubMed Web of Science ®Google Scholar
• Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014;35(39):2733–2779. PMID: 25173338. doi:10.1093/eurheartj/ehu284
   PubMed Web of Science ®Google Scholar
• Echaniz-Laguna A, Mohr M, Epailly E, et al. Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. Muscle Nerve. 2006;33(3):393–397. PMID: 16372318. doi:10.1002/mus.20471
   PubMed Web of Science ®Google Scholar
• Kitahara H, Nawata K, Kinoshita O, et al. Implantation of a left ventricular assist device for Danon cardiomyopathy. Ann Thorac Surg. 2017;103(1):e39–e41. doi:10.1016/j.athoracsur.2016.07.022
   PubMed Web of Science ®Google Scholar
• Banner NR, Bonser RS, Clark AL, et al. UK guidelines for referral and assessment of adults for heart transplantation. Heart. 2011;97(18):1520–1527. doi:10.1136/heartjnl-2011-300048
   PubMed Web of Science ®Google Scholar