{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T17:17:29Z","timestamp":1770743849537,"version":"3.49.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T00:00:00Z","timestamp":1764892800000},"content-version":"vor","delay-in-days":1182,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2022,9,10]],"date-time":"2022-09-10T00:00:00Z","timestamp":1662768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013995","name":"Sanofi-Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Czech Society of Cardiology"},{"name":"Ministry of Education, Youth and Sports of Czech Republic","award":["PROGRES Q38\/LF1"],"award-info":[{"award-number":["PROGRES Q38\/LF1"]}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,12,1]]},"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-linked genetic disorder caused by \u03b1-galactosidase A (AGALA) deficiency. Whereas \u2018classic\u2019 variant has multisystemic manifestation, the more recently described \u2018later-onset\u2019 variant is characterized by predominant cardiac involvement that often mimics hypertrophic cardiomyopathy (HCM).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>Consecutive unrelated patients with HCM were screened for FD in 16 (out of 17) cardiac centres in the Czech Republic covering specialized cardiology care from June 2017 to December 2018. AGALA activity and globotriaosylsphingosine (lyso-Gb3) levels were measured in all subjects using the dry blood spot method. FD was suspected in male patients with AGALA activity &amp;lt;1.2 \u03bcmol\/h\/L and in females with either low AGALA activity or lyso-Gb3 &amp;gt; 3.5 ng\/mL. Positive screening results were confirmed by genetic testing. We evaluated 589 patients (390 males, 66%) with HCM (mean maximal myocardial thickness 19.1 \u00b1 4.3 mm). The average age was 58.4 \u00b1 14.7 years. In total, 17 patients (11 males, 6 females) had a positive screening result, and subsequently, six of them (four males and two females) had a genetically confirmed pathogenic GLA mutation (total prevalence of 1.02%). Five of these patients were carrying the p.N215S mutation known to cause a typical later-onset cardiac FD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We confirmed the prevalence of FD repeatedly reported in previous screening programmes (approximately 1% irrespective of gender) in a non-selected HCM population in Central Europe. Our findings advocate a routine screening for FD in all adult patients with HCM phenotype including both genders. The dry blood spot method used led to identification of clearly pathogenic variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ehf2.14135","type":"journal-article","created":{"date-parts":[[2022,9,10]],"date-time":"2022-09-10T07:39:19Z","timestamp":1662795559000},"page":"4160-4166","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Nationwide Screening of Fabry Disease in Patients with Hypertrophic Cardiomyopathy in Czech Republic"],"prefix":"10.1093","volume":"9","author":[{"given":"David","family":"Zem\u00e1nek","sequence":"first","affiliation":[{"name":"2nd Department of Internal Medicine Cardiology and Angiology, General University Hospital and 1st Faculty of Medicine of Charles University , Prague ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaroslav","family":"Janu\u0161ka","sequence":"additional","affiliation":[{"name":"Cardiocentre Podles\u00ed , T\u0159inec ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tom\u00e1\u0161","family":"Hon\u011bk","sequence":"additional","affiliation":[{"name":"1st Department of Internal Medicine - Cardioangiology, St Anne's University Hospital and Masaryk University , Brno ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karol","family":"\u010curila","sequence":"additional","affiliation":[{"name":"Department of Cardiology, 3rd Faculty of Medicine, Charles University and University Hospital Kralovsk\u00e9 Vinohrady , Prague ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milo\u0161","family":"Kub\u00e1nek","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Institute for Clinical and Experimental Medicine , Prague ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0160t\u011bp\u00e1nka","family":"\u0160indel\u00e1\u0159ov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hospital \u010cesk\u00e9 Bud\u011bjovice , \u010cesk\u00e9 Bud\u011bjovice ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie","family":"Zah\u00e1lkov\u00e1","sequence":"additional","affiliation":[{"name":"1st Department of Medicine - Cardioangiology, Charles University Faculty of Medicine and University Hospital , Hradec Kr\u00e1lov\u00e9 ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petr","family":"Klof\u00e1\u010d","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Regional Hospital Liberec , Liberec ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eli\u0161ka","family":"La\u0161t\u016fvkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Hospital Jihlava , Jihlava ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Lichnerov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular Disease, University Hospital in Ostrava , Ostrava ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renata","family":"Aiglov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I - Cardiology, Faculty of Medicine and Dentistry, Palack\u00fd University and University Hospital Olomouc , Olomouc ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Lhotsk\u00fd","sequence":"additional","affiliation":[{"name":"Department of Cardiology, University Hospital and Faculty of Medicine Pilsen, Charles University , Prague ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ji\u0159\u00ed","family":"Vondr\u00e1k","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Regional Hospital Pardubice and Faculty of Health Studies, University of Pardubice , Pardubice ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Dost\u00e1lov\u00e1","sequence":"additional","affiliation":[{"name":"2nd Department of Internal Medicine Cardiology and Angiology, General University Hospital and 1st Faculty of Medicine of Charles University , Prague ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milo\u0161","family":"T\u00e1borsk\u00fd","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I - Cardiology, Faculty of Medicine and Dentistry, Palack\u00fd University and University Hospital Olomouc , Olomouc ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Kasper","sequence":"additional","affiliation":[{"name":"ARCHIMED Life Science GmbH , Vienna ,","place":["Austria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3372-7850","authenticated-orcid":false,"given":"Ale\u0161","family":"Linhart","sequence":"additional","affiliation":[{"name":"2nd Department of Internal Medicine Cardiology and Angiology, General University Hospital and 1st Faculty of Medicine of Charles University , Prague ,","place":["Czech Republic"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,9,10]]},"reference":[{"key":"2026012114135458500_ehf214135-bib-0001","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry 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