{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:51:21Z","timestamp":1753876281687,"version":"3.41.2"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T00:00:00Z","timestamp":1681776000000},"content-version":"vor","delay-in-days":17,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,4,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Mitochondrial cardiomyopathy (MCM) is an alteration in cardiac structure and function caused by gene mutations or deletions affecting components of the mitochondrial respiratory chain. We report a case of MCM presenting as cardiogenic shock, ultimately requiring left ventricular assist device (LVAD) placement.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 35-year-old woman with chronic weakness and non-ischaemic cardiomyopathy, on home dobutamine, was referred to our institution for heart transplantation evaluation. She was admitted to the hospital for suspected cardiogenic shock after laboratory tests revealed a lactate level of 5.4\u2005mmol\/L (ref: 0.5\u20132.2\u2005mmol\/L). Her hospital course was complicated by persistently undulating lactate levels (0.2\u20138.6\u2005mmol\/L) that increased with exertion and did not correlate with mixed venous oxygen saturation measurements obtained from a pulmonary artery catheter. Electrodiagnostic testing demonstrated a proximal appendicular and axial myopathy. A left deltoid muscle biopsy was performed that demonstrated evidence of a mitochondrial disease on light and electron microscopy. Muscle genetic testing revealed two large-scale mitochondrial deoxyribonucleic acid sequence deletions, confirming the diagnosis of MCM. She subsequently underwent LVAD placement, which was complicated by significant right ventricular failure requiring early mechanical support. She was ultimately discharged home with chronic inotropic support.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>Mitochondrial cardiomyopathy in adults is a diagnostic and therapeutic challenge. Prompt diagnosis should be made in patients with unknown causes of heart failure via skeletal muscle histopathology guided by electrodiagnostic studies, and targeted genetic testing in affected tissue. Outcomes in adult MCM patients who receive an LVAD are unknown and warrant further investigation.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytad183","type":"journal-article","created":{"date-parts":[[2023,4,18]],"date-time":"2023-04-18T20:38:57Z","timestamp":1681850337000},"source":"Crossref","is-referenced-by-count":0,"title":["Cardiogenic shock in a woman with a mitochondrial cardiomyopathy: a case report"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5906-5015","authenticated-orcid":false,"given":"Andrew","family":"Girard","sequence":"first","affiliation":[{"name":"Department of Medicine, University of Alabama at Birmingham , 1720 2nd Ave S, BDB 327, Birmingham, AL 35233 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0961-3562","authenticated-orcid":false,"given":"Brittain","family":"Heindl","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Disease, Department of Medicine, University of Alabama at Birmingham , Birmingham, AL 35233 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7923-9676","authenticated-orcid":false,"given":"Stephen","family":"Clarkson","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Disease, Department of Medicine, University of Alabama at Birmingham , Birmingham, AL 35233 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3174-2192","authenticated-orcid":false,"given":"Silvio","family":"Litovsky","sequence":"additional","affiliation":[{"name":"Division of Anatomic Pathology, Department of Pathology, University of Alabama at Birmingham , Birmingham, AL 35233 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8307-9994","authenticated-orcid":false,"given":"Eroboghene","family":"Ubogu","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Disease, Department of Neurology, University of Alabama at Birmingham , Birmingham, AL 35233 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Coreen","family":"Schwartzlow","sequence":"additional","affiliation":[{"name":"Division of Neuromuscular Disease, Department of Neurology, University of Alabama at Birmingham , Birmingham, AL 35233 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6349-4704","authenticated-orcid":false,"given":"Jose","family":"Tallaj","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Disease, Department of Medicine, University of Alabama at Birmingham , Birmingham, AL 35233 , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,4,18]]},"reference":[{"key":"2024051617521324100_ytad183-B1","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S1474-4422(10)70116-2","article-title":"A neurological perspective on mitochondrial disease","volume":"9","author":"McFarland","year":"2010","journal-title":"Lancet Neurol"},{"key":"2024051617521324100_ytad183-B2","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1093\/eurheartj\/ehs275","article-title":"Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management","volume":"33","author":"Bates","year":"2012","journal-title":"Eur Heart J"},{"key":"2024051617521324100_ytad183-B3","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1002\/ana.24362","article-title":"Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease","volume":"77","author":"Gorman","year":"2015","journal-title":"Ann Neurol"},{"key":"2024051617521324100_ytad183-B4","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/S0195-668X(02)00387-1","article-title":"Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings","volume":"24","author":"Holmgren","year":"2003","journal-title":"Eur Heart J"},{"key":"2024051617521324100_ytad183-B5","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1542\/peds.2004-0718","article-title":"Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease","volume":"114","author":"Scaglia","year":"2004","journal-title":"Pediatrics"},{"key":"2024051617521324100_ytad183-B6","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.ijcard.2021.06.042","article-title":"Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients","volume":"341","author":"Imai-Okazaki","year":"2021","journal-title":"Int J Cardiol"},{"key":"2024051617521324100_ytad183-B7","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1093\/brain\/120.10.1713","article-title":"Molecular pathology of MELAS and MERRF. 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