{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T09:43:36Z","timestamp":1785923016358,"version":"3.56.0"},"reference-count":19,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004829","name":"Science and Technology Department of Sichuan Province","doi-asserted-by":"publisher","award":["2024YFFK0024"],"award-info":[{"award-number":["2024YFFK0024"]}],"id":[{"id":"10.13039\/501100004829","id-type":"DOI","asserted-by":"publisher"}]},{"award":["2024YFFK0024"],"award-info":[{"award-number":["2024YFFK0024"]}],"id":[{"id":"https:\/\/ror.org\/04323m874","id-type":"ROR","asserted-by":"publisher"}]},{"name":"National Center for Chronic and Noncommunicable Disease Control and Prevention","award":["2024ZD0521802"],"award-info":[{"award-number":["2024ZD0521802"]}]},{"award":["2024ZD0521802"],"award-info":[{"award-number":["2024ZD0521802"]}],"id":[{"id":"https:\/\/ror.org\/01r58sr54","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Clin. Med.","JCM"],"abstract":"<jats:p>Background\/Objectives: Danon disease is a rare X-linked lysosomal disorder caused by pathogenic variants in LAMP2. In women, cardiac involvement may occur later in life and may resemble sarcomeric hypertrophic cardiomyopathy (HCM), particularly when extracardiac manifestations are absent or subtle. A 42-year-old woman presented with chest discomfort in 2017 and was initially diagnosed with hypertrophic cardiomyopathy (HCM). She underwent serial 3.0-T cardiovascular magnetic resonance (CMR) over an 8-year period. Initial CMR showed left-ventricular hypertrophy, preserved left-ventricular ejection fraction (65.0%), increased native T1 and T2 relaxation times, extracellular volume (ECV) of 24.9%, and patchy apical late gadolinium enhancement (LGE extent, 12.35%). Five years later, worsening dyspnea was accompanied by increased left-ventricular mass index, higher native T1 and ECV, greater LGE extent (15.18%), and slow atrial fibrillation with ventricular ectopy on Holter monitoring. Genetic testing identified a likely pathogenic LAMP2 variant, c.928G&gt;A (p.Val310Ile), supporting the diagnosis of Danon disease in the clinical context. During a subsequent readmission three years later with acute amaurosis and dyspnea, no definite neurologic cause was identified in the available record. Repeat CMR showed the highest recorded native T1 and ECV values and diffuse LGE with relatively less interventricular-septal involvement, particularly in the basal septum (LGE extent, 24.59%); repeat Holter monitoring showed frequent long R-R intervals and ventricular escape beats. Because of progressive imaging and electrical deterioration, implantable cardioverter-defibrillator therapy and heart-transplantation assessment were recommended, and the patient ultimately chose to proceed with pre-transplant assessment in December 2025. Conclusions: Female LAMP2-related Danon disease may initially resemble HCM, but differs from it with diffusely abnormal T1\/ECV measurements. Follow up in our case revealed progressive storage cardiomyopathy with diffuse myocardial injury and clinically relevant bradyarrhythmia.<\/jats:p>","DOI":"10.3390\/jcm15156085","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T08:14:46Z","timestamp":1785917686000},"page":"6085","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Serial Cardiovascular Magnetic Resonance Evolution of Late-Onset Female Danon Disease Initially Diagnosed as Hypertrophic Cardiomyopathy: A Case Report"],"prefix":"10.3390","volume":"15","author":[{"given":"Xuhan","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Cardiology, West China Hospital, Sichuan University, No. 37 GuoXue Alley, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9166-646X","authenticated-orcid":false,"given":"Shichu","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, West China Hospital, Sichuan University, No. 37 GuoXue Alley, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, West China Hospital, Sichuan University, No. 37 GuoXue Alley, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0601-8039","authenticated-orcid":false,"given":"Yucheng","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, West China Hospital, Sichuan University, No. 37 GuoXue Alley, Chengdu 610041, China"},{"name":"Cardiac Imaging and Targets Therapy Lab, West China Hospital, Sichuan University, Chengdu 610041, China"},{"name":"Center of Rare Diseases, West China Hospital, Sichuan University, Chengdu 610041, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1038\/35022604","article-title":"Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)","volume":"406","author":"Nishino","year":"2000","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1161\/CIRCHEARTFAILURE.114.001105","article-title":"Danon disease","volume":"7","author":"Levandowski","year":"2014","journal-title":"Circ. Heart Fail."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1628","DOI":"10.1016\/j.jacc.2023.08.014","article-title":"International consensus on differential diagnosis and management of patients with Danon disease: JACC State-of-the-Art Review","volume":"82","author":"Hong","year":"2023","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e003117","DOI":"10.1161\/CIRCGEN.120.003117","article-title":"Clinical profile of cardiac involvement in Danon disease: A multicenter European registry","volume":"13","author":"Lotan","year":"2020","journal-title":"Circ. Genom. Precis. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e038394","DOI":"10.1161\/JAHA.124.038394","article-title":"An international longitudinal natural history study of patients with Danon disease: Unique cardiac trajectories identified based on sex and heart failure outcomes","volume":"14","author":"Hong","year":"2025","journal-title":"J. Am. Heart Assoc."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1001\/jama.2009.371","article-title":"Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy","volume":"301","author":"Maron","year":"2009","journal-title":"JAMA"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1148\/radiol.2021203996","article-title":"Cardiac phenotype characterization at MRI in patients with Danon disease: A retrospective multicenter case series","volume":"299","author":"Wei","year":"2021","journal-title":"Radiology"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"e222333","DOI":"10.1148\/radiol.222333","article-title":"Myocardial tissue characterization in Danon disease","volume":"307","author":"Chen","year":"2023","journal-title":"Radiology"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Liu, X., Zhai, N., Wang, X., Wang, J., Jiang, M., Sun, Z., Chen, Y., Xu, J., Cui, Y., and Li, L. (2023). Cardiovascular magnetic resonance findings in Danon disease: A case series of a family. Front. Cardiovasc. Med., 10.","DOI":"10.3389\/fcvm.2023.1159576"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.cardfail.2021.11.007","article-title":"Cardiac transplantation in Danon disease","volume":"28","author":"Hong","year":"2022","journal-title":"J. Card. Fail."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"ytab145","DOI":"10.1093\/ehjcr\/ytab145","article-title":"Detection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: A case series","volume":"5","author":"Suzuki","year":"2021","journal-title":"Eur. Heart J.-Case Rep."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Stavusis, J., Micule, I., Grinfelde, I., Zdanovica, A., Pudulis, J., Valeina, S., Sepetiene, S., Lace, B., and Inashkina, I. (2024). Altered splicing of LAMP2 in a multigenerational family from Latvia affected by Danon disease. Medicina, 60.","DOI":"10.3390\/medicina60010099"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ijcard.2019.01.020","article-title":"Danon disease: Gender differences in presentation and outcomes","volume":"286","author":"Brambatti","year":"2019","journal-title":"Int. J. Cardiol."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Gragnaniello, V., Rizzardi, C., Commone, A., Gueraldi, D., Maines, E., Salviati, L., Di Salvo, G., and Burlina, A.B. (2023). Unusual evolution of hypertrophic cardiomyopathy in non-compaction myocardium in a Pompe disease patient. J. Clin. Med., 12.","DOI":"10.3390\/jcm12062365"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"3263","DOI":"10.1093\/eurheartj\/ehx722","article-title":"A rare phenotype of heterozygous Danon disease mimicking apical hypertrophic cardiomyopathy","volume":"39","author":"Yu","year":"2018","journal-title":"Eur. Heart J."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/1532-429X-11-12","article-title":"Cardiovascular magnetic resonance findings in a case of Danon disease","volume":"11","author":"Kownacki","year":"2009","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_18","doi-asserted-by":"crossref","unstructured":"Xie, J., Liu, Y., Wei, X., Ye, W., Ma, Z., Lu, G., Tan, Z., Li, T., Wang, Y., and Zhao, L. (2022). Relationship between fragmented QRS complex and left ventricular fibrosis and function in patients with Danon disease. Front. Cardiovasc. Med., 9.","DOI":"10.3389\/fcvm.2022.790917"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e022544","DOI":"10.1161\/JAHA.121.022544","article-title":"Myocardial strain and association with clinical outcomes in Danon disease: A model for monitoring progression of genetic cardiomyopathies","volume":"10","author":"Bui","year":"2021","journal-title":"J. Am. Heart Assoc."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/15\/6085\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T08:44:24Z","timestamp":1785919464000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/15\/6085"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,5]]},"references-count":19,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2026,8]]}},"alternative-id":["jcm15156085"],"URL":"https:\/\/doi.org\/10.3390\/jcm15156085","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,5]]}}}