{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:32:52Z","timestamp":1786980772204,"version":"build-2736575974"},"reference-count":29,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,4,25]],"date-time":"2013-04-25T00:00:00Z","timestamp":1366848000000},"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":[[2014,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Fabry disease (FD) is a rare X\u2010linked genetic disorder caused by the deficiency or absent activity of lysosomal \u03b1\u2010galactosidase A. Cardiovascular remodelling is a hallmark of FD. The present study aimed to comprehensively evaluate the cardiac, vascular and microvascular status in a population of patients with genetic mutations for FD without left ventricular hypertrophy (LVH).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>\n                      This study includes subjects carrying genetic mutations for FD (Fabry disease mutation\u2010carrier, FDMC) without LVH (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200919). A group of control subjects (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u200919) matched for age, sex, body mass index and cardiovascular risk factors were also included. All subjects underwent echocardiography, carotid ultrasound scan, endothelial flow\u2010mediated dilatation (FMD) and nailfold capillaroscopy (NFC) assessment. When compared to the subjects in the control group, FDMC patients showed significantly lower mean values of systolic myocardial velocity (7.33\u2009\u00b1\u20091.28 vs. 10.08\u2009\u00b1\u20091.63 cm\/s,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.0001), longitudinal systolic strain (\u221218.07\u2009\u00b1\u20091.72 vs. \u221221.15\u2009\u00b1\u20092.22 %,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.0001), significantly higher E\/E\u2019 mean values (7.15\u2009\u00b1\u20091.54 vs. 5.98\u2009\u00b1\u20091.27,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.016) and intima\u2010media thickness mean values (0.80\u2009\u00b1\u20090.20 vs. 0.61\u2009\u00b1\u20090.19 mm,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.005), significantly lower FMD (8.3\u2009\u00b1\u20094.6 vs. 12.2\u2009\u00b1\u20095.0 %,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.02), more atypical capillaries and irregular NFC architecture in FDMC than control subjects (52.6 vs. 0 %,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009&lt;\u20090.0001; 78.9 vs. 36.8 %,\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.02 respectively).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>FD progressively involves cardiac, macrovascular and microvascular systems in an early stage. These features are present even in asymptomatic mutation carriers without LVH.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s10545-013-9607-1","type":"journal-article","created":{"date-parts":[[2013,4,30]],"date-time":"2013-04-30T23:17:42Z","timestamp":1367363862000},"page":"109-116","source":"Crossref","is-referenced-by-count":20,"title":["Early cardiovascular remodelling in Fabry disease"],"prefix":"10.1002","volume":"37","author":[{"given":"Luca","family":"Costanzo","sequence":"first","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Buccheri","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Piera","family":"Capranzano","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luigi","family":"Di Pino","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppina","family":"Curatolo","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Rodolico","sequence":"additional","affiliation":[{"name":"CNR Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Leggio","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Blundo","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corrado","family":"Tamburino","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Monte","sequence":"additional","affiliation":[{"name":"Department of \u201cMedical and Pediatric Sciences\u201d University of Catania Catania Italy"},{"name":"Ecocardiografia Clinica, A.O.U. Policlinico Vittorio Emanuele, Presidio \u201cGaspare Rodolico\u201d Via Santa Sofia 78 Catania 95100 Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,25]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.32.7.1559"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.0000209649.60409.38"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02392.x"},{"key":"e_1_2_10_5_1","first-page":"1","volume-title":"Clinical capillaroscopy. 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