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We sought to compare cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with <jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content> and unaffected controls and examine their relationships with cardiac function and exercise capacity. Children\/adolescents and young adults with <jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content> (<jats:italic>n<\/jats:italic>\u00a0=\u00a020) and children\/adolescent and young adult control participants (<jats:italic>n<\/jats:italic>\u00a0=\u00a023, total <jats:italic>n<\/jats:italic>\u00a0=\u00a043) underwent <jats:sup>31<\/jats:sup>P magnetic resonance spectroscopy (<jats:sup>31<\/jats:sup>P\u2010<jats:styled-content style=\"fixed-case\">MRS<\/jats:styled-content>) of the lower extremity (calf) and heart for estimation of skeletal muscle and cardiac bioenergetics. Peak exercise testing (<jats:styled-content style=\"fixed-case\">VO<\/jats:styled-content><jats:sub>2peak<\/jats:sub>) and resting echocardiography were also performed on all participants. Cardiac <jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content>r\/<jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content> ratio was significantly lower in children\/adolescents (<jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content>: 1.5\u00a0\u00b1\u00a00.2 vs. Control: 2.0\u00a0\u00b1\u00a00.3, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.01) and adults (<jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content>: 1.9\u00a0\u00b1\u00a00.2 vs. Control: 2.3\u00a0\u00b1\u00a00.2, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.01) with <jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content> compared to Control groups. Adults (<jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content>: 76.4\u00a0\u00b1\u00a031.6 vs. Control: 35.0\u00a0\u00b1\u00a07.4\u00a0sec, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.01) and children\/adolescents (<jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content>: 71.5\u00a0\u00b1\u00a021.3 vs. Control: 31.4\u00a0\u00b1\u00a07.4\u00a0sec, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.01) with <jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content> had significantly longer calf <jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content>r recovery (<jats:italic>\u03c4<\/jats:italic><jats:styled-content style=\"fixed-case\">PC<\/jats:styled-content>r) postexercise compared to controls. Maximal calf <jats:styled-content style=\"fixed-case\">ATP<\/jats:styled-content> production through oxidative phosphorylation (Qmax\u2010lin) was significantly lower in children\/adolescents (<jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content>: 0.5\u00a0\u00b1\u00a00.1 vs. Control: 1.1\u00a0\u00b1\u00a00.3\u00a0mmol\/L per sec, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.01) and adults (<jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content>: 0.5\u00a0\u00b1\u00a00.2 vs. Control: 1.0\u00a0\u00b1\u00a00.2\u00a0mmol\/L\u00a0sec, <jats:italic>P<\/jats:italic>\u00a0&lt;\u00a00.01) with <jats:styled-content style=\"fixed-case\">BTHS<\/jats:styled-content> compared to controls. Blunted cardiac and skeletal muscle bioenergetics were associated with lower <jats:italic>V<\/jats:italic>O<jats:sub>2peak<\/jats:sub> but not resting cardiac function. Cardiac and skeletal muscle bioenergetics are impaired and appear to contribute to exercise intolerance in BTHS.<\/jats:p>","DOI":"10.14814\/phy2.13130","type":"journal-article","created":{"date-parts":[[2017,2,15]],"date-time":"2017-02-15T01:10:20Z","timestamp":1487121020000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":40,"title":["Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome"],"prefix":"10.14814","volume":"5","author":[{"given":"Adil","family":"Bashir","sequence":"first","affiliation":[{"name":"Department of Radiology Washington University School of Medicine St. Louis Missouri"},{"name":"Department of Electrical and Computer Engineering Auburn University Auburn Alabama"}],"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"}],"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"}],"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"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam J.","family":"Bittel","sequence":"additional","affiliation":[{"name":"Program in Physical Therapy Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"de las Fuentes","sequence":"additional","affiliation":[{"name":"Department of Medicine Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina A.","family":"Pacak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida Gainesville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry J.","family":"Byrne","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Florida Gainesville Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. 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