{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T11:51:16Z","timestamp":1753876276066,"version":"3.41.2"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T00:00:00Z","timestamp":1625443200000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and exercise intolerance. It is often considered to be a paediatric disease, owing to most cases being diagnosed during childhood and mortality being the highest during the first few years of life.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>We report a case of dilated cardiomyopathy due to BTHS in a 27-year-old adult male patient, who initially presented with lightheadedness, dyspnoea, orthopnoea, and bilateral lower extremity oedema. Key findings from investigations included leukopenia, prolonged QTc interval, reduced left ventricular ejection fraction (LVEF), global enlargement of all heart chambers, patent coronary arteries, and mild pulmonary hypertension. The patient was diuresed to euvolemia and discharged with a LifeVest. Guideline-directed medical therapy was initiated and uptitrated as an outpatient. A repeat echocardiogram 2\u2009years after initial presentation showed marked improvement in LVEF.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>It is possible that there are adult patients with idiopathic cardiomyopathy, which may be attributable to BTHS. In the absence of an obvious underlying cause, with the appropriate historical information, clinical exam, laboratory investigations, and imaging findings, BTHS should be considered as a likely cause of non-ischaemic cardiomyopathy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytab195","type":"journal-article","created":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T08:03:56Z","timestamp":1625472236000},"source":"Crossref","is-referenced-by-count":3,"title":["Case report of Barth syndrome: a forgotten cause of cardiomyopathy"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7724-2089","authenticated-orcid":false,"given":"Shiavax","family":"Rao","sequence":"first","affiliation":[{"name":"Department of Medicine, MedStar Health Internal Medicine Residency Program , 201 E University Pkwy, Baltimore, MD 21218, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6370-289X","authenticated-orcid":false,"given":"Arjun","family":"Kanwal","sequence":"additional","affiliation":[{"name":"Department of Medicine, MedStar Health Internal Medicine Residency Program , 201 E University Pkwy, Baltimore, MD 21218, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sriram","family":"Padmanabhan","sequence":"additional","affiliation":[{"name":"MedStar Heart and Vascular Institute, MedStar Franklin Square Medical Center, 9000 Franklin Square Dr, Baltimore, MD 21237, US A"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,7,5]]},"reference":[{"key":"2022081607011192400_ytab195-B1","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/0022-510X(83)90209-5","article-title":"An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes","volume":"62","author":"Barth","year":"1983","journal-title":"J Neurol Sci"},{"key":"2022081607011192400_ytab195-B2","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/1750-1172-8-23","article-title":"Barth syndrome","volume":"8","author":"Clark","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"2022081607011192400_ytab195-B3","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1002\/ajmg.a.20660","article-title":"X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update","volume":"126A","author":"Barth","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2022081607011192400_ytab195-B4","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1006\/bbrc.2000.3952","article-title":"Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome","volume":"279","author":"Vreken","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"2022081607011192400_ytab195-B5","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1093\/cvr\/cvx014","article-title":"Barth syndrome cardiomyopathy","volume":"113","author":"Dudek","year":"2017","journal-title":"Cardiovasc Res"},{"key":"2022081607011192400_ytab195-B6","doi-asserted-by":"crossref","first-page":"345","DOI":"10.2147\/JMDH.S54802","article-title":"Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach","volume":"8","author":"Reynolds","year":"2015","journal-title":"J Multidiscip Healthc"},{"key":"2022081607011192400_ytab195-B7","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1080\/15227950500405429","article-title":"Clinicopathologic conference: Barth syndrome","volume":"24","author":"Huhta","year":"2005","journal-title":"Fetal Pediatr Pathol"},{"key":"2022081607011192400_ytab195-B8","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/S0022-3476(99)70126-5","article-title":"Genetic analysis of the G4.5 gene in families with suspected Barth syndrome","volume":"135","author":"Cantlay","year":"1999","journal-title":"J Pediatr"}],"container-title":["European Heart Journal - Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/5\/7\/ytab195\/45434486\/ytab195.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ehjcr\/article-pdf\/5\/7\/ytab195\/45434486\/ytab195.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T07:01:52Z","timestamp":1660633312000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ehjcr\/article\/doi\/10.1093\/ehjcr\/ytab195\/6314359"}},"subtitle":[],"editor":[{"given":"Soren","family":"Skott-Schmiegelow","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Abdullah Sayied","family":"Abdullah","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Deborah","family":"Cosmi","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Marta","family":"Cvijic","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Alexander","family":"Tindale","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]},{"given":"Ayse","family":"Djahit","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2021,7,1]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7,1]]}},"URL":"https:\/\/doi.org\/10.1093\/ehjcr\/ytab195","relation":{},"ISSN":["2514-2119"],"issn-type":[{"type":"electronic","value":"2514-2119"}],"subject":[],"published-other":{"date-parts":[[2021,7,1]]},"published":{"date-parts":[[2021,7,1]]},"article-number":"ytab195"}}