{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T13:19:23Z","timestamp":1770470363876,"version":"3.49.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T00:00:00Z","timestamp":1760486400000},"content-version":"vor","delay-in-days":407,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Clinical Research Center of Shandong University","award":["2020SDUCRCA009"],"award-info":[{"award-number":["2020SDUCRCA009"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Left ventricular hypertrophy (LVH) is frequently detected via echocardiography in individuals with Fabry disease (FD), sometimes leading to confusion with hypertrophic cardiomyopathy (HCM) of other aetiologies. Considering this diagnosis challenge, FD should be included in the list of differential diagnosis for patients presenting with LVH. To address this concern, we conducted a prospective screening study in China, using dried blood spot (DBS) testing, to evaluate patients with unexplained LVH.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Our study was designed as a nationwide, multicentre prospective investigation. A total of 1015 patients from 55 different centres who were diagnosed with LVH by echocardiography were screened in the study from September 2022 to December 2023. Demographic information, biochemistry data, echocardiography parameters and clinical observations were meticulously collected from all participants. The DBS method was used to assess \u03b1-galactosidase A (\u03b1-Gal A) activity in males and both \u03b1-Gal A and globotriaosylsphingosine (lyso-Gb3) levels in females.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The final screening population included 906 patients (589 males, 65%) with LVH, characterized by a mean maximal myocardial thickness of 14.8 \u00b1 4.6 mm and an average age of 56.9 \u00b1 17.2 years. In total, 43 patients (38 males, 5 females) exhibited low \u03b1-Gal A activity measurement (&amp;lt;2.2 \u03bcmol\/L), while 21 patients (10 males, 11 females) presented low \u03b1-Gal A activity or elevated lyso-Gb3 levels (&amp;gt;1.1 ng\/mL). Among these patients, eight individuals (7 males and 1 female) were genetically confirmed to harbour pathogenic GLA mutations, resulting in a total prevalence of 0.88%. Compared with patients without FD, patients with FD tended to have proteinuria (75% vs. 21.2%, P = 0.001), family history of HCM (37.5% vs. 2.3%, P &amp;lt; 0.01) and neuropathic pain (37.5% vs. 4.4%, P &amp;lt; 0.01) but lower systolic blood pressure (118.5 \u00b1 12.5 vs. 143.3 \u00b1 29.3 mmHg, P = 0.017). Five mutations were previously recognized as associated with FD while the remaining two, p.Asp313Val (c.938A&amp;gt;T) and c.547+3A&amp;gt;G, were deemed potentially pathogenic. Subsequent familial validation post-diagnosis identified an additional 14 confirmed cases.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This pioneering screening study for FD among Chinese patients with unexplained LVH using DBS measurement, revealed an FD detection rate of 0.88%. Our findings confirmed that the combined measurement of lyso-Gb3 and \u03b1-Gal A activity is beneficial for primary screening of FD in patients with LVH. Given the availability of efficacious therapies and the value of cascade screening in extended families, early detection of FD in LVH patients is clinically important.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ehf2.15065","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T07:40:04Z","timestamp":1725349204000},"page":"4381-4389","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Screening for Fabry Disease in Patients with Left Ventricular Hypertrophy in China: A Multicentre and Prospective Study"],"prefix":"10.1093","volume":"11","author":[{"given":"Zongwei","family":"Lin","sequence":"first","affiliation":[{"name":"National Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, 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Shandong University , Jinan ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongxia","family":"Miao","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Dongying People's Hospital , Dongying ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huanyi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Tai'an Central Hospital , Tai'an ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, People's Hospital of Ningjin County Shandong Province , Dezhou ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fenglei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Dongying People's Hospital , Dongying ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Xintai Hospital of Chinese Traditional Medicine , Tai'an ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongyan","family":"Dai","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Qingdao Municipal Hospital , Qingdao ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guihua","family":"Jiang","sequence":"additional","affiliation":[{"name":"National Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, Department of Cardiology, Qilu Hospital of Shandong University , Jinan ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongxia","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Affiliated Yantai Yuhuangding Hospital of Qingdao University , Yantai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Affiliated Yantai Yuhuangding Hospital of Qingdao University , Yantai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0131-5808","authenticated-orcid":false,"given":"Huixia","family":"Lu","sequence":"additional","affiliation":[{"name":"National Key Laboratory for Innovation and Transformation of Luobing Theory, Key Laboratory of Cardiovascular Remodeling and Function Research, Chinese Ministry of Education, Chinese National Health Commission and Chinese Academy of Medical Sciences, 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