{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:06:36Z","timestamp":1790798796770,"version":"4.1.0"},"reference-count":48,"publisher":"American Physiological Society","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American Journal of Physiology-Heart and Circulatory Physiology"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:p>\n                    Barth syndrome (BTHS) is a mitochondrial myopathy characterized by reports of exercise intolerance. We sought to determine if 1) BTHS leads to abnormalities of skeletal muscle O\n                    <jats:sub>2<\/jats:sub>\n                    extraction\/utilization and 2) exercise intolerance in BTHS is related to impaired O\n                    <jats:sub>2<\/jats:sub>\n                    extraction\/utilization, impaired cardiac function, or both. Participants with BTHS (age: 17 \u00b1 5 yr, n = 15) and control participants (age: 13 \u00b1 4 yr, n = 9) underwent graded exercise testing on a cycle ergometer with continuous ECG and metabolic measurements. Echocardiography was performed at rest and at peak exercise. Near-infrared spectroscopy of the vastus lateralis muscle was continuously recorded for measurements of skeletal muscle O\n                    <jats:sub>2<\/jats:sub>\n                    extraction. Adjusting for age, peak O\n                    <jats:sub>2<\/jats:sub>\n                    consumption (16.5 \u00b1 4.0 vs. 39.5 \u00b1 12.3 ml\u00b7kg\n                    <jats:sup>\u22121<\/jats:sup>\n                    \u00b7min\n                    <jats:sup>\u22121<\/jats:sup>\n                    , P &lt; 0.001) and peak work rate (58 \u00b1 19 vs. 166 \u00b1 60 W, P &lt; 0.001) were significantly lower in BTHS than control participants. The percent increase from rest to peak exercise in ejection fraction (BTHS: 3 \u00b1 10 vs. control: 19 \u00b1 4%, P &lt; 0.01) was blunted in BTHS compared with control participants. The muscle tissue O\n                    <jats:sub>2<\/jats:sub>\n                    saturation change from rest to peak exercise was paradoxically opposite (BTHS: 8 \u00b1 16 vs. control: \u22125 \u00b1 9, P &lt; 0.01), and the deoxyhemoglobin change was blunted (BTHS: 0 \u00b1 12 vs. control: 10 \u00b1 8, P &lt; 0.09) in BTHS compared with control participants, indicating impaired skeletal muscle extraction in BTHS. In conclusion, severe exercise intolerance in BTHS is due to both cardiac and skeletal muscle impairments that are consistent with cardiac and skeletal mitochondrial myopathy. These findings provide further insight to the pathophysiology of BTHS.\n                  <\/jats:p>","DOI":"10.1152\/ajpheart.00479.2010","type":"journal-article","created":{"date-parts":[[2011,8,26]],"date-time":"2011-08-26T22:56:02Z","timestamp":1314399362000},"page":"H2122-H2129","source":"Crossref","is-referenced-by-count":83,"title":["Impaired cardiac reserve and severely diminished skeletal muscle O\n                    <sub>2<\/sub>\n                    utilization mediate exercise intolerance in Barth syndrome"],"prefix":"10.1152","volume":"301","author":[{"given":"Carolyn T.","family":"Spencer","sequence":"first","affiliation":[{"name":"Division of Cardiology, Department of Pediatrics, East Carolina University, Greenville, North Carolina;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barry J.","family":"Byrne","sequence":"additional","affiliation":[{"name":"Congential Heart Center;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randall M.","family":"Bryant","sequence":"additional","affiliation":[{"name":"Congential Heart Center;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renee","family":"Margossian","sequence":"additional","affiliation":[{"name":"Children's Hospital, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Maisenbacher","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Pediatrics, University of Florida School of Medicine, Gainesville, Florida;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petar","family":"Breitenger","sequence":"additional","affiliation":[{"name":"Congential Heart Center;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul B.","family":"Benni","sequence":"additional","affiliation":[{"name":"CAS Medical Systems Incorporated, Branford, Connecticut; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharon","family":"Redfearn","sequence":"additional","affiliation":[{"name":"Congential Heart Center;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward","family":"Marcus","sequence":"additional","affiliation":[{"name":"Children's Hospital, Boston, Massachusetts;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. 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