{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T14:08:02Z","timestamp":1793196482035,"version":"4.5.0"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2020,6,9]],"date-time":"2020-06-09T00:00:00Z","timestamp":1591660800000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,6,22]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Cardiac involvement in Fabry disease (FD) occurs prior to left ventricular hypertrophy (LVH) and is characterized by low myocardial native T1 with sphingolipid storage reflected by cardiovascular magnetic resonance (CMR) and electrocardiogram (ECG) changes. We hypothesize that a pre-storage myocardial phenotype might occur even earlier, prior to T1 lowering.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>FD patients and age-, sex-, and heart rate-matched healthy controls underwent same-day ECG with advanced analysis and multiparametric CMR [cines, global longitudinal strain (GLS), T1 and T2 mapping, stress perfusion (myocardial blood flow, MBF), and late gadolinium enhancement (LGE)]. One hundred and fourteen Fabry patients (46\u2009\u00b1\u200913\u2009years, 61% female) and 76 controls (49\u2009\u00b1\u200915\u2009years, 50% female) were included. In pre-LVH FD (n\u2009=\u200972, 63%), a low T1 (n\u2009=\u200932\/72, 44%) was associated with a constellation of ECG and functional abnormalities compared to normal T1 FD patients and controls. However, pre-LVH FD with normal T1 (n\u2009=\u200940\/72, 56%) also had abnormalities compared to controls: reduced GLS (\u221218\u2009\u00b1\u20092 vs. \u221220\u2009\u00b1\u20092%, P\u2009&amp;lt;\u20090.001), microvascular changes (lower MBF 2.5\u2009\u00b1\u20090.7 vs. 3.0\u2009\u00b1\u20090.8\u2009mL\/g\/min, P\u2009=\u20090.028), subtle T2 elevation (50\u2009\u00b1\u20094 vs. 48\u2009\u00b1\u20092 ms, P\u2009=\u20090.027), and limited LGE (%LGE 0.3\u2009\u00b1\u20091.1 vs. 0%, P\u2009=\u20090.004). ECG abnormalities included shorter P-wave duration (88\u2009\u00b1\u200912 vs. 94\u2009\u00b1\u200915 ms, P\u2009=\u20090.010) and T-wave peak time (Tonset \u2013 Tpeak; 104\u2009\u00b1\u200928 vs. 115\u2009\u00b1\u200920 ms, P\u2009=\u20090.015), resulting in a more symmetric T wave with lower T-wave time ratio (Tonset \u2013 Tpeak)\/(Tpeak \u2013 Tend) (1.5\u2009\u00b1\u20090.4 vs. 1.8\u2009\u00b1\u20090.4, P\u2009&amp;lt;\u20090.001) compared to controls.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>FD has a measurable myocardial phenotype pre-LVH and pre-detectable myocyte storage with microvascular dysfunction, subtly impaired GLS and altered atrial depolarization and ventricular repolarization intervals.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjci\/jeaa101","type":"journal-article","created":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T23:20:59Z","timestamp":1586992859000},"page":"790-799","source":"Crossref","is-referenced-by-count":70,"title":["The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage"],"prefix":"10.1093","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0040-5270","authenticated-orcid":false,"given":"Jo\u00e3o B","family":"Augusto","sequence":"first","affiliation":[{"name":"Institute of Cardiovascular Science, University College London, London, UK"},{"name":"Department of Cardiovascular Imaging, Barts Heart Centre, Barts Health NHS Trust, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8236-1165","authenticated-orcid":false,"given":"Nicolas","family":"Johner","sequence":"additional","affiliation":[{"name":"Cardiology Division, Geneva University Hospitals, Rue 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