{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T16:36:06Z","timestamp":1782146166674,"version":"3.54.5"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,10,31]],"date-time":"2013-10-31T00:00:00Z","timestamp":1383177600000},"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":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>A number of studies have already investigated the prevalence of Fabry disease (FD) in adult patients with unexplained left ventricular hypertrophy (LVH) with rates varying from 0 % up to 12 % reflecting referral and gender bias as well as differences in diagnostic methodology. We aimed to perform a prospective screening study evaluating the prevalence of FD in male patients older than 30 years with strictly defined unexplained LVH followed by general cardiologists.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A predefined number of 100 men with unexplained LVH, defined as maximal wall thickness \u2265 13 mm, were identified during an echocardiographic examination in primary cardiology practice and screened by assessing \u03b1\u2010galactosidase A activity in dried blood spots (DBS) or in plasma.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Four men (52\u2009\u00b1\u20094 years, maximal LV wall thickness 18\u2009\u00b1\u20093 mm) were diagnosed with FD confirmed by enzyme analysis in leukocytes as well as by genetic analysis. Mild extracardiac manifestations of FD were present in two of them.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The prevalence of FD in our cohort of male patients followed in primary cardiology practice with strictly defined otherwise unexplained LVH was 4 %. We recommend systematic screening for FD in all men older than 30 years with LVH of unknown etiology even in the absence of obvious extracardiac manifestations of FD.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-013-9659-2","type":"journal-article","created":{"date-parts":[[2013,10,30]],"date-time":"2013-10-30T07:23:58Z","timestamp":1383117838000},"page":"455-460","source":"Crossref","is-referenced-by-count":52,"title":["Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)"],"prefix":"10.1002","volume":"37","author":[{"given":"Tomas","family":"Palecek","sequence":"first","affiliation":[{"name":"2nd Department of Medicine \u2013 Department of Cardiovascular Medicine, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague U Nemocnice 2 Prague 2 128 08 Czech Republic"},{"name":"International Clinical Research Center St. Anne's University Hospital Brno Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitka","family":"Honzikova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena","family":"Poupetova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Vlaskova","sequence":"additional","affiliation":[{"name":"Institute of Inherited Metabolic Disorders, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petr","family":"Kuchynka","sequence":"additional","affiliation":[{"name":"2nd Department of Medicine \u2013 Department of Cardiovascular Medicine, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague U Nemocnice 2 Prague 2 128 08 Czech Republic"},{"name":"International Clinical Research Center St. Anne's University Hospital Brno Brno Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubor","family":"Golan","sequence":"additional","affiliation":[{"name":"2nd Department of Medicine \u2013 Department of Cardiovascular Medicine, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudheera","family":"Magage","sequence":"additional","affiliation":[{"name":"2nd Department of Medicine \u2013 Department of Cardiovascular Medicine, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ales","family":"Linhart","sequence":"additional","affiliation":[{"name":"2nd Department of Medicine \u2013 Department of Cardiovascular Medicine, First Faculty of Medicine Charles University in Prague and General University Hospital in Prague U Nemocnice 2 Prague 2 128 08 Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,31]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa033349"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-146-2-200701160-00148"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-8981(01)00478-8"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000139847.74101.03"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.7.1051"},{"key":"e_1_2_10_9_1","first-page":"369","article-title":"Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy","volume":"129","author":"Elleder M","year":"1990","journal-title":"Cas Lek Cesk"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm342"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl-2011-300364"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000237866.70357.c6"},{"key":"e_1_2_10_13_1","unstructured":"GenBank \u2013 genomic DNA NG_007119.1(www.ncbi.nlm.nih.gov\/nuccore\/NG_007119.1) mRNA NM_000169.2 (www.ncbi.nlm.nih.gov\/nuccore\/NM_000169.2(PRI 02\u2010SEP\u20102013)"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2010.200188"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2008.162800"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2008.03.007"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0b013e3283375698"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000124671.61963.1E"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2005.063818"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1067\/mhj.2000.105105"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1012428009627"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehm153"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0679-7"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.92.4.785"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90384-3"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065904"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfl528"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2007.06.062"},{"key":"e_1_2_10_29_1","doi-asserted-by":"publisher","DOI":"10.1080\/10976640600605002"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1136\/heart.89.8.929"},{"key":"e_1_2_10_32_1","first-page":"242","article-title":"Multicentrick\u00fd screening Fabryho choroby u jedinc\u016f s nevysv\u011btlitelnou hypertrofi\u00ed lev\u00e9 komory. (Fabry Cardiomyopathy Screening Study\u2010FACSS): desing of the study","volume":"47","author":"Palecek T","year":"2005","journal-title":"Cor Vasa"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000066323.15244.54"},{"key":"e_1_2_10_34_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000012626.81324.38"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0810-575"},{"issue":"1","key":"e_1_2_10_36_1","first-page":"113","article-title":"Screening for Fabry disease in end\u2010stage nephropathies","volume":"25","author":"Spada M","year":"2002","journal-title":"J Inherit Metab Dis"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-013-9659-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T05:22:09Z","timestamp":1694755329000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-013-9659-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,31]]},"references-count":35,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2014,5]]}},"alternative-id":["10.1007\/s10545-013-9659-2"],"URL":"https:\/\/doi.org\/10.1007\/s10545-013-9659-2","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,31]]}}}