{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T20:23:39Z","timestamp":1769286219386,"version":"3.49.0"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T00:00:00Z","timestamp":1673913600000},"content-version":"vor","delay-in-days":21,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,12,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a multi-organ disorder resulting from mitochondrial DNA (mtDNA) mutations. We report a case of suspected MELAS syndrome that progressed to left ventricular dysfunction 24 years after an initial diagnosis of atrioventricular block (AVB).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 51-year-old woman was referred to heart failure clinic because of dyspnoea on exertion and progressive cardiomegaly. She had a dual-chamber pacemaker implanted for 24 years because of a high-degree AVB. She was treated for diabetes mellitus for 23 years and used hearing aids for 12 years because of sensorineural hearing loss. Transthoracic echocardiography revealed reduced left ventricular ejection fraction (26%), with increased thickness and unusual texture of the myocardium. The absence of abnormal findings on serum and urine protein electrophoresis suggested that light-chain amyloidosis was unlikely. In addition, 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy revealed no definite uptake in the myocardium. Endomyocardial biopsy revealed a hypertrophy of myocytes in haematoxylin-eosin staining, and electron microscopy revealed a disarrangement of mitochondrial cristae, which were suggestive of mitochondrial cardiomyopathy. A mtDNA test detected the m.3243A &amp;gt; G mutation in the MT-TL1 gene. According to these findings, MELAS syndrome was the most probable diagnosis despite the absence of common symptoms such as stroke-like episodes or lactic acidosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>The patient had progressed to heart failure with reduced ejection fraction 24 years after the first cardiac manifestation. An identification of the mutation in the MT-TL1 gene, indicative of MELAS syndrome, enabled the diagnosis of MELAS syndrome without typical manifestations.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad028","type":"journal-article","created":{"date-parts":[[2023,1,17]],"date-time":"2023-01-17T22:48:03Z","timestamp":1673995683000},"source":"Crossref","is-referenced-by-count":3,"title":["Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7667-0199","authenticated-orcid":false,"given":"Sang-Hyup","family":"Lee","sequence":"first","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, Severance Cardiovascular Hospital, Yonsei University College of Medicine , 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722 , South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8756-409X","authenticated-orcid":false,"given":"Chan Joo","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, Severance Cardiovascular Hospital, Yonsei University College of Medicine , 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722 , South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0084-0216","authenticated-orcid":false,"given":"Dongju","family":"Won","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine , 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722 , South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9856-9227","authenticated-orcid":false,"given":"Seok-Min","family":"Kang","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Internal Medicine, Severance Cardiovascular Hospital, Yonsei University College of Medicine , 50-1 Yonsei-ro, Seodaemun-gu, Seoul 03722 , South Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,1,17]]},"reference":[{"key":"2023013112101110100_ytad028-B1","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2015.06.004","article-title":"MELAS syndrome: clinical manifestations, pathogenesis, and treatment options","volume":"116","author":"El-Hattab","year":"2015","journal-title":"Mol Genet Metab"},{"key":"2023013112101110100_ytad028-B2","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1002\/ana.21196","article-title":"Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A &gt; 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