{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T16:11:47Z","timestamp":1789575107062,"version":"build-2803163510"},"reference-count":47,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"17","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["JAHA"],"published-print":{"date-parts":[[2021,9,7]]},"abstract":"<jats:sec xml:lang=\"en\">\n            <jats:title>Background<\/jats:title>\n            <jats:p xml:lang=\"en\">Phenylketonuria is the most common inborn error of amino acid metabolism, where oxidative stress and collateral metabolic abnormalities are likely to cause cardiac structural and functional modifications. We aim herein to characterize the cardiac phenotype of adult subjects with phenylketonuria using advanced cardiac imaging.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Methods and Results<\/jats:title>\n            <jats:p xml:lang=\"en\">\n              Thirty\u2010nine adult patients with phenylketonuria (age, 30.5\u00b18.7\u00a0years; 10\u2010year mean phenylalanine concentration, 924\u00b1330\u00a0\u00b5mol\/L) and 39 age\u2010 and sex\u2010matched healthy controls were investigated. Participants underwent a comprehensive cardiac magnetic resonance and echocardiography examination. Ten\u2010year mean plasma levels of phenylalanine and tyrosine were used to quantify disease activity and adherence to treatment. Patients with phenylketonuria had thinner left ventricular walls (septal end\u2010diastolic thickness, 7.0\u00b117 versus 8.8\u00b11.7\u00a0mm [\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001]; lateral thickness, 6.1\u00b11.4 versus 6.8\u00b11.2\u00a0mm [\n              <jats:italic>P<\/jats:italic>\n              =0.004]), more dilated left ventricular cavity (end\u2010diastolic volume, 87\u00b114 versus 80\u00b114\u00a0mL\/m\n              <jats:sup>2<\/jats:sup>\n              [\n              <jats:italic>P<\/jats:italic>\n              =0.0178]; end\u2010systolic volume, 36\u00b19 versus 29\u00b18\u00a0mL\/m\n              <jats:sup>2<\/jats:sup>\n              [\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001]), lower ejection fraction (59\u00b16% versus 64\u00b16% [\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001]), reduced systolic deformation (global circumferential strain, \u221229.9\u00b14.2 % versus \u221232.2\u00b15.0 % [\n              <jats:italic>P<\/jats:italic>\n              =0.027]), and lower left ventricular mass (38.2\u00b17.9 versus 47.8\u00b111.0 g\/m\n              <jats:sup>2<\/jats:sup>\n              [\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001]). T1 native values were decreased (936\u00b153 versus 996\u00b126\u00a0ms [\n              <jats:italic>P<\/jats:italic>\n              &lt;0.001]), with particular low values in patients with phenylalanine &gt;1200\u00a0\u00b5mol\/L (909\u00b148\u00a0ms). Both mean phenylalanine (\n              <jats:italic>P<\/jats:italic>\n              =0.013) and tyrosine (\n              <jats:italic>P<\/jats:italic>\n              =0.035) levels were independently correlated with T1; and in a multiple regression model, higher phenylalanine levels and higher left ventricular mass associate with lower T1.\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec xml:lang=\"en\">\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p xml:lang=\"en\">Cardiac phenotype of adult patients with phenylketonuria reveals some traits of an early\u2010stage cardiomyopathy. Regular cardiology follow\u2010up, tighter therapeutic control, and prophylaxis of cardiovascular risk factors, in particular dyslipidemia, are recommended.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/jaha.120.020351","type":"journal-article","created":{"date-parts":[[2021,8,21]],"date-time":"2021-08-21T09:14:32Z","timestamp":1629537272000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":14,"title":["Cardiac Magnetic Resonance Reveals Incipient Cardiomyopathy Traits in Adult Patients With Phenylketonuria"],"prefix":"10.1161","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2193-9813","authenticated-orcid":false,"given":"Radu","family":"Tanacli","sequence":"first","affiliation":[{"name":"Department of Cardiology German Heart Centre Berlin Berlin Germany"},{"name":"Department of Cardiology Charit\u00e9 University Medicine Berlin Berlin 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