{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:53:38Z","timestamp":1790679218947,"version":"4.1.0"},"reference-count":28,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Heart"],"accepted":{"date-parts":[[2010,9,28]]},"published-print":{"date-parts":[[2011,1,15]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Patients with Fabry disease (FD) show left ventricular hypertrophy (LVH) mimicking hypertrophic cardiomyopathy (HCM) of sarcomeric origin and might benefit, if detected early, from specific enzyme replacement therapy. The prevalence of FD in patients with LVH of 13\u2005mm or greater, screened using the leucocyte alpha-galactosidase A (\u03b1-gal A) activity test, a technique that is difficult to apply routinely, ranged from 0% to 6%.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To screen systematically for FD in patients with a diagnosis of HCM (LVH \u226515\u2005mm) in primary cardiology practice, a validated, physician-friendly \u03b1-gal A assay was used on dried blood spots using a filter paper test.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Design and patients<\/jats:title>\n                  <jats:p>A cohort of 392 adults (278 men) followed for HCM were screened for FD. A standard blood test was used for confirmation in nine men in whom the \u03b1-gal A result was 40% or less.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Four men (1.5%; 1.8% of men \u226540\u2005years vs 0% &lt;40\u2005years; all with \u03b1-gal A &lt;30%), but no women, were diagnosed with FD. Index cases presented with diffuse but asymmetric LVH, with severe obstruction in one case and frequent high-grade atrioventricular conduction block necessitating a pacemaker in three cases. Family screening identified eight additional cases. Genotyping was performed successfully on DNA extracted from the filter papers.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>In male patients diagnosed as having HCM, pure FD cardiac variants are not exceptional and can be specifically identified using a simple filter-paper test. The sensitivity of this test is low in female patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/hrt.2010.200188","type":"journal-article","created":{"date-parts":[[2010,11,9]],"date-time":"2010-11-09T20:25:59Z","timestamp":1289334359000},"page":"131-136","source":"Crossref","is-referenced-by-count":74,"title":["Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study"],"prefix":"10.1136","volume":"97","author":[{"given":"Albert A","family":"Hag\u00e8ge","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Caudron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thibaud","family":"Damy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raymond","family":"Roudaut","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Millaire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Etchecopar-Chevreuil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thi-Chien","family":"Tran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Firas","family":"Jabbour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Boucly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrice","family":"Prognon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Charron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique 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distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy: comparison to athletes and hypertensives","volume":"6","author":"Shapiro","year":"1985","journal-title":"Eur Heart J"},{"key":"2025100707151664000_97.2.131.19","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1051\/medsci\/20052111s48","article-title":"[Recent advances of Fabry disease screening for at risk population]","volume":"21","author":"Caudron","year":"2005","journal-title":"Med Sci (Paris)"},{"key":"2025100707151664000_97.2.131.20","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90384-3"},{"key":"2025100707151664000_97.2.131.21","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0039-4"},{"key":"2025100707151664000_97.2.131.22","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0679-7"},{"key":"2025100707151664000_97.2.131.23","doi-asserted-by":"crossref","unstructured":"Germain DP . A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant. Contrib Nephrol 2001:234\u201340.","DOI":"10.1159\/000060194"},{"key":"2025100707151664000_97.2.131.24","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.072116"},{"key":"2025100707151664000_97.2.131.25","doi-asserted-by":"publisher","DOI":"10.1093\/eurjhf\/hfq073"},{"key":"2025100707151664000_97.2.131.26","doi-asserted-by":"publisher","DOI":"10.1136\/heart.89.8.929"},{"key":"2025100707151664000_97.2.131.27","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8175.2005.03191.x"},{"key":"2025100707151664000_97.2.131.28","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)61493-8"}],"container-title":["Heart"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/hrt.2010.200188","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T14:28:34Z","timestamp":1759847314000},"score":1,"resource":{"primary":{"URL":"https:\/\/heart.bmj.com\/lookup\/doi\/10.1136\/hrt.2010.200188"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,9]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2010,12,16]]},"published-print":{"date-parts":[[2011,1,15]]}},"alternative-id":["10.1136\/hrt.2010.200188"],"URL":"https:\/\/doi.org\/10.1136\/hrt.2010.200188","relation":{},"ISSN":["1355-6037","1468-201X"],"issn-type":[{"value":"1355-6037","type":"print"},{"value":"1468-201X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,9]]}}}