{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,7]],"date-time":"2026-02-07T03:07:32Z","timestamp":1770433652570,"version":"3.49.0"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2010,6,1]],"date-time":"2010-06-01T00:00:00Z","timestamp":1275350400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Fabry disease, an X-linked storage disorder caused by defective lysosomal enzyme alpha-galactosidase A activity, may resemble sarcomere-gene-associated hypertrophic cardiomyopathy (HCM). The \u2018cardiac variant\u2019 of Fabry disease which only affects the heart may be missed unless specifically tested for.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>We evaluated 90 consecutively recruited HCM probands and their relatives. Probands without sarcomere-gene mutations were tested for alpha-galactosidase A gene (GLA) mutations. Of the 90 families, 31 (34%) had sarcomere gene mutations and were therefore excluded. In the remaining 59 probands, 3 (5%) had GLA mutations as follows. The first proband, a female with asymmetric septal hypertrophy (ASH), a significant left ventricular outflow tract gradient, and chronic obstructive pulmonary disease, was heterozygous for a novel missense mutation (p.N139S). The second proband, a male with ASH and multiple episodes of ventricular tachycardia, was hemizygous for a missense mutation (p.A156T). His daughter was heterozygous, but had normal enzyme activity. The third proband was a female with ASH, and no other indices of Fabry disease. She was heterozygous for a GLA missense mutation (p.G271S). She had one affected daughter but her two other children were unaffected. The affected daughter had three children, of whom two were also affected\u2014a boy aged 8 and a daughter aged 10 years.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first report of systematic mutation screening of GLA in HCM patients without sarcomere gene mutations. GLA mutations were found in 3\/90 (3%) of HCM families and in 2\/20 (10%) of females without sarcomere-gene mutations. None of the probands presented other indices of Fabry disease. This, in combination with putative reversibility of cardiac changes by enzyme replacement therapy, supports systematic testing for Fabry disease. Enzyme measurements are sufficient in men, but genetic testing is needed in women.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/eurjhf\/hfq073","type":"journal-article","created":{"date-parts":[[2010,5,24]],"date-time":"2010-05-24T12:23:38Z","timestamp":1274703818000},"page":"535-540","source":"Crossref","is-referenced-by-count":77,"title":["Fabry Disease Mimicking Hypertrophic Cardiomyopathy: Genetic Screening Needed for Establishing the Diagnosis in Women"],"prefix":"10.1093","volume":"12","author":[{"given":"Ole","family":"Havndrup","sequence":"first","affiliation":[{"name":"Department of Cardiology, Heart Centre, The National University Hospital, Rigshospitalet , Blegdamsvej 9, 2100, Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Christiansen","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry and Immunology, Statens Serum Institut , Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Birgitte","family":"Stoevring","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry and Immunology, Statens Serum Institut , Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Morten","family":"Jensen","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Heart Centre, The National University Hospital, Rigshospitalet , Blegdamsvej 9, 2100, Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakob","family":"Hoffman-Bang","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry and Immunology, Statens Serum Institut , Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paal Skytt","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry and Immunology, Statens Serum Institut , Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lis","family":"Hasholt","sequence":"additional","affiliation":[{"name":"Section of Neurogenetics, Institute of Cellular and Molecular Medicine, University of Copenhagen , Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"N\u00f8rrem\u00f8lle","sequence":"additional","affiliation":[{"name":"Section of Neurogenetics, Institute of Cellular and Molecular Medicine, University of Copenhagen , Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulla","family":"Feldt-Rasmussen","sequence":"additional","affiliation":[{"name":"Department of Medical Endocrinology, The National University Hospital, Rigshospitalet , Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lars","family":"K\u00f8ber","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Heart Centre, The National University Hospital, Rigshospitalet , Blegdamsvej 9, 2100, Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henning","family":"Bundgaard","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Heart Centre, The National University Hospital, Rigshospitalet , Blegdamsvej 9, 2100, Copenhagen ,","place":["Denmark"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2014,1,13]]},"reference":[{"key":"2026020203341742300_ejhfhfq073-bib-0001","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","article-title":"Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous 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Evidence for a disease specific abnormality of the myocardial interstitium","volume":"24","author":"Moon","year":"2003","journal-title":"Eur Heart J"},{"key":"2026020203341742300_ejhfhfq073-bib-0017","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1097\/01.hco.0000131534.25034.43","article-title":"Tissue Doppler imaging in Fabry disease","volume":"19","author":"Pieroni","year":"2004","journal-title":"Curr Opin Cardiol"},{"key":"2026020203341742300_ejhfhfq073-bib-0018","doi-asserted-by":"crossref","first-page":"3020","DOI":"10.1093\/eurheartj\/ehm454","article-title":"A new echocardiographic approach for the detection of non-ischaemic fibrosis in hypertrophic myocardium","volume":"24","author":"Weidemann","year":"2007","journal-title":"Eur Heart J"},{"key":"2026020203341742300_ejhfhfq073-bib-0019","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1016\/S0735-1097(03)00941-0","article-title":"American College of Cardiology\/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. 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Alpha-galactosidase activities in plasma, serum, urine, and leukocytes","volume":"81","author":"Desnick","year":"1973","journal-title":"J Lab Clin Med"},{"key":"2026020203341742300_ejhfhfq073-bib-0031","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1002\/humu.1380050316","article-title":"Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease","volume":"5","author":"Madsen","year":"1995","journal-title":"Hum Mutat"},{"key":"2026020203341742300_ejhfhfq073-bib-0032","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1186\/1479-7364-2-5-297","article-title":"Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations","volume":"2","author":"Shabbeer","year":"2006","journal-title":"Hum Genomics"},{"key":"2026020203341742300_ejhfhfq073-bib-0033","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1016\/j.amjhyper.2006.01.011","article-title":"Prevalence of uncontrolled hypertension in patients with Fabry disease","volume":"19","author":"Kleinert","year":"2006","journal-title":"Am J Hypertens"},{"key":"2026020203341742300_ejhfhfq073-bib-0034","doi-asserted-by":"crossref","first-page":"1881","DOI":"10.1016\/S0140-6736(04)16358-7","article-title":"Hypertrophic cardiomyopathy","volume":"363","author":"Elliott","year":"2004","journal-title":"Lancet"},{"key":"2026020203341742300_ejhfhfq073-bib-0035","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/BF03401671","article-title":"Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes","volume":"3","author":"Eng","year":"1997","journal-title":"Mol Med"},{"key":"2026020203341742300_ejhfhfq073-bib-0036","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1007\/s100380170088","article-title":"Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype","volume":"46","author":"Ashley","year":"2001","journal-title":"J Hum Genet"},{"key":"2026020203341742300_ejhfhfq073-bib-0037","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1016\/S0140-6736(05)67635-0","article-title":"Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study","volume":"366","author":"Rolfs","year":"2005","journal-title":"Lancet"},{"key":"2026020203341742300_ejhfhfq073-bib-0038","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","article-title":"Fabry's disease","volume":"372","author":"Zarate","year":"2008","journal-title":"Lancet"},{"key":"2026020203341742300_ejhfhfq073-bib-0039","doi-asserted-by":"crossref","first-page":"77","DOI":"10.7326\/0003-4819-146-2-200701160-00148","article-title":"Agalsidase-beta therapy for advanced Fabry disease: a randomized trial","volume":"146","author":"Banikazemi","year":"2007","journal-title":"Ann Intern Med"}],"container-title":["European Journal of Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1093%2Feurjhf%2Fhfq073","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1093%2Feurjhf%2Fhfq073","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1093\/eurjhf\/hfq073","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1093\/eurjhf\/hfq073","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/eurjhf\/article-pdf\/12\/6\/535\/66522411\/eurjhf_12_6_535.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eurjhf\/article-pdf\/12\/6\/535\/66522411\/eurjhf_12_6_535.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T08:34:29Z","timestamp":1770021269000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eurjhf\/article\/12\/6\/535\/8435878"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,1]]},"references-count":39,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2014,1,13]]},"published-print":{"date-parts":[[2010,6,1]]}},"URL":"https:\/\/doi.org\/10.1093\/eurjhf\/hfq073","relation":{},"ISSN":["1388-9842","1879-0844"],"issn-type":[{"value":"1388-9842","type":"print"},{"value":"1879-0844","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2010,6]]},"published":{"date-parts":[[2010,6,1]]}}}