{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:34:21Z","timestamp":1761057261625},"reference-count":30,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2001,11,1]],"date-time":"2001-11-01T00:00:00Z","timestamp":1004572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2001,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Inherited defects in myocardial long\u2010chain fatty acid metabolism are increasingly recognized as a cause of cardiomyopathy and sudden death in children. To evaluate whether the phenotypic expression of these genetic diseases could be delineated using positron emission tomography (PET), 11 patients with inherited defects in fatty acid metabolism were evaluated and results were compared with those of 6 nonaffected siblings. Myocardial perfusion, myocardial oxygen consumption (MVO<jats:sub>2<\/jats:sub>), and long\u2010chain fatty acid metabolism were determined noninvasively with PET using quantitative mathematical models. There were no differences in haemodynamics, perfusion, MVO<jats:sub>2<\/jats:sub> or plasma substrate levels between groups. Patients with defects in enzymes of fatty acid \u03b2\u2010oxidation (acyl\u2010CoA dehydrogenase and 3\u2010hydroxyacyl\u2010CoA dehydrogenase deficiencies) <jats:italic>n<\/jats:italic> = 5 had diminished myocardial palmitate oxidation compared with healthy siblings (3.2 \u00b1 3.0 vs 13.0 \u00b1 5.6 nmol\/g per min, <jats:italic>p<\/jats:italic> &lt; 0.03) and a decrease in the percentage of MVO<jats:sub>2<\/jats:sub> accounted for by palmitate (2% \u00b1 3% vs 9% \u00b1 5%), <jats:italic>p<\/jats:italic> &gt; 0.04). In these patients, extracted palmitate was shunted into a slow\u2010turnover compartment (predominantly reflecting esterification to triglycerides) with expansion of palmitate in that pool (185 \u00b1 246 compared with 27 \u00b1 67 nmol\/g in healthy siblings, <jats:italic>p<\/jats:italic> &lt; 0.02). In contrast, myocardium of patients with carnitine deficiency (<jats:italic>n<\/jats:italic> = 6 (all on oral carnitine therapy) had normal palmitate extraction but expansion of the interstitial\/cytosolic fatty acid pool (617 \u00b1 399 vs 261 \u00b1 73 nmol\/g in healthy siblings, <jats:italic>p<\/jats:italic> &lt; 0.04), suggesting different mechanisms for handling upstream fatty acyl intermediates. Thus, PET can be used to noninvasively assess abnormal myocardial handling of fatty acids in patients with inherited defects of metabolism. This approach should be useful in the assessment of altered myocardial fatty acid metabolism associated with cardiomyopathy as well as for evaluating the efficacy of therapeutic interventions in affected patients.<\/jats:p>","DOI":"10.1023\/a:1012711009687","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T14:27:29Z","timestamp":1040653649000},"page":"657-674","source":"Crossref","is-referenced-by-count":28,"title":["Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathy"],"prefix":"10.1002","volume":"24","author":[{"given":"S. R.","family":"Bergmann","sequence":"first","affiliation":[{"name":"Division of Cardiology, Department of Medicine, College of Physicians and Surgeons of Columbia University New York  New York USA"},{"name":"Division of Cardiology, Department of Radiology, College of Physicians and Surgeons of Columbia University New York  New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Herrero","sequence":"additional","affiliation":[{"name":"Cardiovascular Division, Department of Internal Medicine Washington University School of Medicine  St Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Sciacca","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, College of Physicians and Surgeons of Columbia University New York  New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. J.","family":"Hartman","sequence":"additional","affiliation":[{"name":"Cardiovascular Division, Department of Internal Medicine Washington University School of Medicine  St Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. J.","family":"Rubin","sequence":"additional","affiliation":[{"name":"Cardiovascular Division, Department of Internal Medicine Washington University School of Medicine  St Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K. T.","family":"Hickey","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, College of Physicians and Surgeons of Columbia University New York  New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Epstein","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, College of Physicians and Surgeons of Columbia University New York  New York USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. P.","family":"Kelly","sequence":"additional","affiliation":[{"name":"Cardiovascular Division, Department of Internal Medicine Washington University School of Medicine  St Louis Missouri USA"},{"name":"Cardiovascular Division, Department of Molecular Biology and Pharmacology Washington University School of Medicine  St Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,11]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198806000-00015"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0735-1097(89)90105-8"},{"key":"e_1_2_1_4_1","first-page":"1723","article-title":"Quantitation of myocardial fatty acid metabolism using PET","volume":"37","author":"Bergmann SR","year":"1996","journal-title":"J Nucl 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