{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:38:36Z","timestamp":1787027916800,"version":"build-2736575974"},"reference-count":8,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T00:00:00Z","timestamp":1613088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is an uncommon cause of cardiac hypertrophy, fibrosis, and dysfunction. It shares similar features to numerous other causes of left ventricular hypertrophy, and therefore, because of its rarity, may not be immediately considered as a diagnosis. Prompt recognition of clinical and cardiac imaging features may expedite diagnosis and management. We report the case of a 38-year-old man admitted with neurological symptoms and in whom the diagnostic workup led to the diagnosis of MELAS syndrome with cardiac involvement.<\/jats:p>","DOI":"10.3390\/diagnostics11020295","type":"journal-article","created":{"date-parts":[[2021,2,12]],"date-time":"2021-02-12T19:11:41Z","timestamp":1613157101000},"page":"295","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome"],"prefix":"10.3390","volume":"11","author":[{"given":"Anna B.","family":"Reid","sequence":"first","affiliation":[{"name":"Cardiac Imaging Unit, North West Heart Centre, Manchester University NHS Foundation Trust, Manchester M23 9LT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Venetucci","sequence":"additional","affiliation":[{"name":"Manchester Heart Centre, Manchester Royal Infirmary, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK"},{"name":"Institute of Cardiovascular Sciences, University of Manchester, Manchester M13 9PL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Schmitt","sequence":"additional","affiliation":[{"name":"Cardiac Imaging Unit, North West Heart Centre, Manchester University NHS Foundation Trust, Manchester M23 9LT, UK"},{"name":"Institute of Cardiovascular Sciences, University of Manchester, Manchester M13 9PL, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaetano","family":"Nucifora","sequence":"additional","affiliation":[{"name":"Cardiac Imaging Unit, North West Heart Centre, Manchester University NHS Foundation Trust, Manchester M23 9LT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,12]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1093\/ije\/dyr232","article-title":"Epigenetics, epidemiology and mitochondrial DNA diseases","volume":"41","author":"Chinnery","year":"2012","journal-title":"Int. J. Epidemiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/s10741-015-9524-5","article-title":"MELAS syndrome and cardiomyopathy: Linking mitochondrial function to heart failure pathogenesis","volume":"21","author":"Hsu","year":"2016","journal-title":"Heart Fail. Rev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.ijcard.2018.10.051","article-title":"linical profile and outcome of cardiac involvement in MELAS syndrome","volume":"276","author":"Brambilla","year":"2019","journal-title":"Int. J. Cardiol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s12968-015-0145-x","article-title":"Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy","volume":"17","author":"Florian","year":"2015","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"H680","DOI":"10.1152\/ajpheart.00251.2014","article-title":"Disease-specific differences of left ventricular rotational mechanics between cardiac amyloidosis and hypertrophic cardiomyopathy","volume":"307","author":"Nucifora","year":"2014","journal-title":"Am J. Physiol. Heart Circ. Physiol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1603","DOI":"10.1007\/s10554-015-0720-0","article-title":"Systolic and diastolic myocardial mechanics in hypertrophic cardiomyopathy and their link to the extent of hypertrophy, replacement fibrosis and interstitial fibrosis","volume":"31","author":"Nucifora","year":"2015","journal-title":"Int. J. Cardiovasc Imaging"},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Aquaro, G.D., Guidi, B., Biondi, F., Chiti, E., Santurro, A., Scopetti, M., Turillazzi, E., and Di Paolo, M. (2020). Post-Mortem Cardiac Magnetic Resonance for the Diagnosis of Hypertrophic Cardiomyopathy. Diagnostics, 10.","DOI":"10.20944\/preprints202011.0240.v1"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Sasc\u0103u, R., Anghel, L., Clement, A., Bostan, M., Radu, R., and St\u0103tescu, C. (2021). The Importance of Multimodality Imaging in the Diagnosis and Management of Patients with Infiltrative Cardiomyopathies: An Update. Diagnostics, 11.","DOI":"10.3390\/diagnostics11020256"}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/2\/295\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:23:31Z","timestamp":1760160211000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/11\/2\/295"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,12]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,2]]}},"alternative-id":["diagnostics11020295"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics11020295","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,12]]}}}