{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T15:41:33Z","timestamp":1789054893682,"version":"build-2803163510"},"reference-count":41,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"6","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circ: Cardiovascular Imaging"],"published-print":{"date-parts":[[2018,6]]},"abstract":"<jats:sec>\n            <jats:title>Background:<\/jats:title>\n            <jats:p>Fabry disease (FD) is a rare and treatable X-linked lysosomal storage disorder. Cardiac involvement determines outcomes; therefore, detecting early changes is important. Native T1 by cardiovascular magnetic resonance is low, reflecting sphingolipid storage. Early phenotype development is familiar in hypertrophic cardiomyopathy but unexplored in FD. We explored the prehypertrophic cardiac phenotype of FD and the role of storage.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods and Results:<\/jats:title>\n            <jats:p>\n              A prospective, international multicenter observational study of 100 left ventricular hypertrophy\u2013negative FD patients (mean age: 39\u00b115 years; 19% male) and 35 age- and sex-matched healthy volunteers (mean age: 40\u00b114 years; 25% male) who underwent cardiovascular magnetic resonance, including native T1 and late gadolinium enhancement, and 12-lead ECG. In FD, 41% had a low native T1 using a single septal region of interest, but this increased to 59% using a second slice because early native T1 lowering was patchy. ECG abnormalities were present in 41% and twice as common with low native T1 (53% versus 24%;\n              <jats:italic>P<\/jats:italic>\n              =0.005). When native T1 was low, left ventricular maximum wall thickness, indexed mass, and ejection fraction were higher (maximum wall thickness 9\u00b11.5 versus 8\u00b11.4 mm,\n              <jats:italic>P<\/jats:italic>\n              &lt;0.005; indexed left ventricular mass 63\u00b110 versus 58\u00b19 g\/m\n              <jats:sup>2<\/jats:sup>\n              ,\n              <jats:italic>P<\/jats:italic>\n              &lt;0.05; and left ventricular ejection fraction 73\u00b18% versus 69\u00b17%,\n              <jats:italic>P<\/jats:italic>\n              &lt;0.01). Late gadolinium enhancement was more likely when native T1 was low (27% versus 6%;\n              <jats:italic>P<\/jats:italic>\n              =0.01). FD had higher maximal apical fractal dimensions compared with healthy volunteers (1.27\u00b10.06 versus 1.24\u00b10.04;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.005) and longer anterior mitral valve leaflets (23\u00b12 mm versus 21\u00b13 mm;\n              <jats:italic>P<\/jats:italic>\n              &lt;0.005).\n            <\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions:<\/jats:title>\n            <jats:p>There is a detectable prehypertrophic phenotype in FD consisting of storage (low native T1), structural, functional, and ECG changes.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1161\/circimaging.117.007168","type":"journal-article","created":{"date-parts":[[2018,5,31]],"date-time":"2018-05-31T09:20:14Z","timestamp":1527758414000},"update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":85,"title":["Cardiac Phenotype of Prehypertrophic Fabry Disease"],"prefix":"10.1161","volume":"11","author":[{"given":"Sabrina","family":"Nordin","sequence":"first","affiliation":[{"name":"Cardiology Department, Barts Heart Centre, London, United Kingdom (S.N., A.A.-G., K.M.-M., S.R., G.C., J.C.M.)."},{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (S.N., A.A.-G., K.M.-M., G.C., J.C.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Kozor","sequence":"additional","affiliation":[{"name":"Sydney Medical School, University of Sydney, Australia (R.K.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanat","family":"Baig","sequence":"additional","affiliation":[{"name":"Cardiology Department (S.B., N.C.E., R.P.S.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amna","family":"Abdel-Gadir","sequence":"additional","affiliation":[{"name":"Cardiology Department, Barts Heart Centre, London, United Kingdom (S.N., A.A.-G., K.M.-M., S.R., G.C., J.C.M.)."},{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (S.N., A.A.-G., K.M.-M., G.C., J.C.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katia","family":"Medina-Menacho","sequence":"additional","affiliation":[{"name":"Cardiology Department, Barts Heart Centre, London, United Kingdom (S.N., A.A.-G., K.M.-M., S.R., G.C., J.C.M.)."},{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (S.N., A.A.-G., K.M.-M., G.C., J.C.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefania","family":"Rosmini","sequence":"additional","affiliation":[{"name":"Cardiology Department, Barts Heart Centre, London, United Kingdom (S.N., A.A.-G., K.M.-M., S.R., G.C., J.C.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriella","family":"Captur","sequence":"additional","affiliation":[{"name":"Cardiology Department, Barts Heart Centre, London, United Kingdom (S.N., A.A.-G., K.M.-M., S.R., G.C., J.C.M.)."},{"name":"Institute of Cardiovascular Science, University College London, United Kingdom (S.N., A.A.-G., K.M.-M., G.C., J.C.M.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Tchan","sequence":"additional","affiliation":[{"name":"Department of Genetic Medicine, Westmead Hospital, Australia (M.T.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tarekegn","family":"Geberhiwot","sequence":"additional","affiliation":[{"name":"Inherited Metabolic Disorders Unit (T.H.), University Hospitals Birmingham, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elaine","family":"Murphy","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom (E.M., R.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Lachmann","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom (E.M., R.L.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uma","family":"Ramaswami","sequence":"additional","affiliation":[{"name":"Lysosomal Storage Disorder Unit, Royal Free Hospital, London, United Kingdom (U.R., D.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola C.","family":"Edwards","sequence":"additional","affiliation":[{"name":"Cardiology Department (S.B., N.C.E., R.P.S.)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derralynn","family":"Hughes","sequence":"additional","affiliation":[{"name":"Lysosomal Storage Disorder Unit, Royal Free Hospital, London, United Kingdom (U.R., D.H.)."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard 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