{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:53Z","timestamp":1786978013310,"version":"build-2736575974"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL107406\u201001"],"award-info":[{"award-number":["R01HL107406\u201001"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL136759"],"award-info":[{"award-number":["R01HL136759"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30DK056341"],"award-info":[{"award-number":["P30DK056341"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30DK020579"],"award-info":[{"award-number":["P30DK020579"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["HD007434"],"award-info":[{"award-number":["HD007434"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1TR000448"],"award-info":[{"award-number":["UL1TR000448"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1TR002553"],"award-info":[{"award-number":["UL1TR002553"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100002651","name":"Barth Syndrome Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100002651","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Barth syndrome (BTHS) is a rare X\u2010linked recessive disorder characterized by mutations in the TAFAZZIN gene, leading to mitochondrial dysfunction, cardioskeletal myopathy, neutropenia, exercise intolerance, and growth delay. While cardiac transplantation can improve heart function in BTHS patients, the metabolic effects of this procedure remain poorly understood. This study aimed to compare skeletal muscle morphology, substrate metabolism, energetics, and exercise tolerance in individuals with BTHS who had undergone cardiac transplantation (BTHS\u2010T) versus BTHS patients without transplantation (BTHS\u2010noT) and healthy controls. Six (\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u20096) BTHS\u2010T participants (3 adolescents, 3 adults) were compared with\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200929 BTHS\u2010noT and\n                    <jats:italic>n<\/jats:italic>\n                    \u2009=\u200928 healthy controls. All participants underwent graded exercise testing, echocardiography, body composition analysis, and clinical metabolism studies, including\n                    <jats:sup>31<\/jats:sup>\n                    P\u2010MRS to assess mitochondrial energetics. No significant differences were observed in fat\u2010free mass between BTHS\u2010T participants and BTHS\u2010noT. Exercise capacity (V\u0307O\n                    <jats:sub>2peak<\/jats:sub>\n                    ) was significantly lower in both BTHS groups compared to controls, with lower heart rate responses during peak exercise. In addition, plasma lactate was higher in both BTHS groups compared to healthy controls. Skeletal muscle energetics showed slower phosphocreatine recovery and reduced ATP production in BTHS participants, regardless of cardiac transplantation status. Findings suggest while cardiac transplantation in BTHS may improve heart function, it may not normalize skeletal muscle mass and energetics, metabolic abnormalities, and exercise intolerance. The study enhances our understanding of long\u2010term metabolic consequences of BTHS and potential limitations of cardiac transplantation in ameliorating these dysfunctions. Further research is needed to explore targeted therapies to address underlying metabolic abnormalities in BTHS patients.\n                  <\/jats:p>","DOI":"10.1002\/jmd2.70034","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T05:11:03Z","timestamp":1751865063000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cardiac Transplantation Does Not Improve Exercise Tolerance, Muscle Mass, or Substrate Metabolism in Barth Syndrome"],"prefix":"10.1002","volume":"66","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2329-7623","authenticated-orcid":false,"given":"W. Todd","family":"Cade","sequence":"first","affiliation":[{"name":"Doctor of Physical Therapy Division Duke University School of Medicine  Durham North Carolina USA"},{"name":"Program in Physical Therapy Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn L.","family":"Bohnert","sequence":"additional","affiliation":[{"name":"Program in Physical Therapy Washington University School of Medicine  St. Louis Missouri USA"},{"name":"Department of Medicine Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda R.","family":"Peterson","sequence":"additional","affiliation":[{"name":"Department of Medicine Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa de las","family":"Fuentes","sequence":"additional","affiliation":[{"name":"Department of Medicine Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily","family":"Poehlein","sequence":"additional","affiliation":[{"name":"Department of Biostatistics &amp; Bioinformatics Duke University School of Medicine  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia L.","family":"Green","sequence":"additional","affiliation":[{"name":"Department of Biostatistics &amp; Bioinformatics Duke University School of Medicine  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7430-124X","authenticated-orcid":false,"given":"Christina A.","family":"Pacak","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Minnesota School of Medicine  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry J.","family":"Byrne","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida School of Medicine  Gainesville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominic N.","family":"Reeds","sequence":"additional","affiliation":[{"name":"Department of Medicine Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adil","family":"Bashir","sequence":"additional","affiliation":[{"name":"Department of Electrical and Computer Engineering Auburn University  Auburn Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4244-709X","authenticated-orcid":false,"given":"Brian","family":"Feingold","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Cardiology) University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn","family":"Taylor","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,7]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496\u2010385"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3545"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nchembio.2113"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C200551200"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110.139493"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20108\u201023"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022\u2010510x(83)90209\u20105"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35609"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900135"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0735\u20101097(96)00272\u20100"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.cir.89.4.1624"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399\u20100012.1999.130507.x"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cardfail.2005.01.008"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002\u20109149(92)91002\u2010l"},{"issue":"3","key":"e_1_2_13_16_1","first-page":"468","article-title":"Serial Assessment of Exercise Capacity After Heart Transplantation","volume":"14","author":"Mandak J. 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