{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,18]],"date-time":"2026-03-18T01:02:10Z","timestamp":1773795730675,"version":"3.50.1"},"reference-count":14,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T00:00:00Z","timestamp":1736553600000},"content-version":"unspecified","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Takeda"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["Open Heart"],"accepted":{"date-parts":[[2024,12,20]]},"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:sec>\n                  <jats:title>Background and aims<\/jats:title>\n                  <jats:p>Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.8%. Early diagnosis of FD is crucial due to available treatments, but its rarity and diverse symptoms complicate identification. Heart-specific FD variants often lead to late diagnoses due to the absence of typical FD symptoms. This prospective study (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"clintrialgov\" xlink:href=\"NCT04943991\">NCT04943991<\/jats:ext-link>) was conducted to identify patients with undiagnosed FD using electronic health records (EHR) at a German tertiary-care hospital.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Over 20 years (2000\u20132020), 2824 patients with \u2018left ventricular hypertrophy (LVH)\u2019 or \u2018hypertrophic cardiomyopathy (HCM)\u2019 were identified by full-text search. Exclusion criteria were age over 85, other diagnosed cardiomyopathies, significant valvular heart disease, death, active malignancy and prior FD testing. The remaining patients received an invitation for FD genetic testing.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Of the 2824 identified patients, 2626 (93%) fulfilled the exclusion criteria. Among the 198 included patients, 96 responded, and 55 underwent genetic testing, yielding a response rate of 48% and a testing rate of 28%. In one patient (1.8% of tested), FD was diagnosed with the <jats:italic>p.N215S<\/jats:italic> variant. Subsequent family screening revealed six additional FD cases, with four initiating FD-specific therapies. Comprehensive clinical evaluations were conducted in five of the seven identified patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Genetic testing of patients with unexplained LVH\/HCM using EHR is effective for identifying FD. Subsequent family screening further identified at-risk individuals, promoting regular follow-ups and if needed FD-specific therapies. This approach highlights the potential for broader application in high-risk populations to uncover treatable genetic conditions. The next phase should focus on automating the executed search process.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Trial registration number<\/jats:title>\n                  <jats:p>\n                     <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"clintrialgov\" xlink:href=\"NCT04943991\">NCT04943991<\/jats:ext-link>.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/openhrt-2024-003116","type":"journal-article","created":{"date-parts":[[2025,1,12]],"date-time":"2025-01-12T00:00:12Z","timestamp":1736640012000},"page":"e003116","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM)"],"prefix":"10.1136","volume":"12","clinical-trial-number":[{"clinical-trial-number":"nct04943991","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04943991","registry":"10.18810\/clinical-trials-gov"},{"clinical-trial-number":"nct04943991","registry":"10.18810\/clinical-trials-gov"}],"author":[{"given":"Kolja","family":"Lau","sequence":"first","affiliation":[{"name":"Department of Internal Medicine I, Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"},{"name":"Fabry Center for Interdisciplinary Therapy (FAZiT), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria","family":"Sokalski","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I, Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"},{"name":"Fabry Center for Interdisciplinary Therapy (FAZiT), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lora","family":"Lorenz","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I, Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"},{"name":"Fabry Center for Interdisciplinary Therapy (FAZiT), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georg","family":"Fette","sequence":"additional","affiliation":[{"name":"Data Integration Center (DIZ), Service Center Medical Informatics (SMI), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claudia","family":"Sommer","sequence":"additional","affiliation":[{"name":"Department of Neurology, Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"},{"name":"Fabry Center for Interdisciplinary Therapy (FAZiT), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurcan","family":"\u00dc\u00e7eyler","sequence":"additional","affiliation":[{"name":"Department of Neurology, Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"},{"name":"Fabry Center for Interdisciplinary Therapy (FAZiT), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christoph","family":"Wanner","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I, Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"},{"name":"Fabry Center for Interdisciplinary Therapy (FAZiT), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2560-4068","authenticated-orcid":false,"given":"Peter","family":"Nordbeck","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I, Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"},{"name":"Fabry Center for Interdisciplinary Therapy (FAZiT), Universit\u00e4tsklinikum W\u00fcrzburg, W\u00fcrzburg, BY, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,1,11]]},"reference":[{"key":"2025081709541698000_12.1.e003116.1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehad194"},{"key":"2025081709541698000_12.1.e003116.2","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","article-title":"Cardiac Involvement in Fabry Disease","volume":"77","author":"Pieroni","year":"2021","journal-title":"J Am Coll 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approach for the detection of patients at high risk of Fabry disease in male left ventricular hypertrophy patients","volume":"80","author":"Kubo","year":"2022","journal-title":"J Cardiol"},{"key":"2025081709541698000_12.1.e003116.7","doi-asserted-by":"crossref","DOI":"10.3346\/jkms.2019.34.e63","article-title":"Prevalence of Fabry Disease in Korean Men with Left Ventricular Hypertrophy","volume":"34","author":"Kim","year":"2019","journal-title":"J Korean Med Sci"},{"key":"2025081709541698000_12.1.e003116.8","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000139847.74101.03"},{"key":"2025081709541698000_12.1.e003116.9","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/j.ymgme.2018.06.004","article-title":"European expert consensus statement on therapeutic goals in Fabry disease","volume":"124","author":"Wanner","year":"2018","journal-title":"Mol Genet Metab"},{"key":"2025081709541698000_12.1.e003116.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.04.004"},{"key":"2025081709541698000_12.1.e003116.11","doi-asserted-by":"publisher","DOI":"10.1136\/postgradmedj-2018-136056"},{"key":"2025081709541698000_12.1.e003116.12","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCGENETICS.116.001691","article-title":"\u03b1-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease","volume":"10","author":"Oder","year":"2017","journal-title":"Circ Cardiovasc Genet"},{"key":"2025081709541698000_12.1.e003116.13","first-page":"88","article-title":"Exporting Data from a Clinical Data Warehouse","volume":"248","author":"Fette","year":"2018","journal-title":"Stud Health Technol Inform"},{"key":"2025081709541698000_12.1.e003116.14","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.ahj.2020.04.006","article-title":"Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?","volume":"226","author":"Azevedo","year":"2020","journal-title":"Am Heart J"}],"container-title":["Open Heart"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/openhrt-2024-003116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,17]],"date-time":"2025-08-17T16:54:23Z","timestamp":1755449663000},"score":1,"resource":{"primary":{"URL":"https:\/\/openheart.bmj.com\/lookup\/doi\/10.1136\/openhrt-2024-003116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,1,11]]},"published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1136\/openhrt-2024-003116"],"URL":"https:\/\/doi.org\/10.1136\/openhrt-2024-003116","relation":{},"ISSN":["2053-3624"],"issn-type":[{"value":"2053-3624","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]}}}