{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T14:46:33Z","timestamp":1768747593604,"version":"3.49.0"},"reference-count":19,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T00:00:00Z","timestamp":1483920000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>We retrospectively evaluated correlations between cardiac manifestations and globotriaosylceramide (Gb3) accumulation in cardiomyocytes from Taiwanese patients with Fabry disease and the IVS4+919G&gt;A (IVS4) mutation who underwent endomyocardial biopsy (Shire; Fabry Outcome Survey data; extracted January 2015). Of 24 males and six females (median age [Q1; Q3] at biopsy 60.4 [57.4; 64.1] and 61.3 [60.4; 65.1] years, respectively), 13 males (54.2%) and five females (83.3%) received agalsidase alfa enzyme replacement therapy (ERT) before biopsy. Median left ventricular mass indexed to height (LVMI) within \u00b16 months of biopsy was 65.3 (52.7; 93.1) in males and 53.2 (42.0; 55.0) g\/m2.7 in females. A moderate, positive, statistically significant correlation was found between the percentage area Gb3 accumulation in cardiomyocytes and LVMI (Spearman\u2019s \u03c1, 0.45; p = 0.014); a smaller, positive, non-statistically significant correlation was observed between cardiomyocyte diameter and LVMI (Spearman\u2019s \u03c1 0.16, p = 0.394). Moderate, statistically significant, negative correlations were found between Gb3 accumulation and ERT duration (Spearman\u2019s \u03c1, \u22120.49, p = 0.007) and between cardiomyocyte size and ERT duration (Spearman\u2019s \u03c1, \u22120.37, p = 0.048). Longer ERT duration was associated with smaller amounts of Gb3 accumulation and smaller cardiomyocyte size. Further follow-up is recommended to confirm these trends in a larger sample size.<\/jats:p>","DOI":"10.3390\/ijms18010119","type":"journal-article","created":{"date-parts":[[2017,1,9]],"date-time":"2017-01-09T11:03:23Z","timestamp":1483959803000},"page":"119","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Correlations between Endomyocardial Biopsies and Cardiac Manifestations in Taiwanese Patients with the Chinese Hotspot IVS4+919G&gt;A Mutation: Data from the Fabry Outcome Survey"],"prefix":"10.3390","volume":"18","author":[{"given":"Ting-Rong","family":"Hsu","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei 112, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fu-Pang","family":"Chang","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 112, Taiwan"},{"name":"Department of Pathology and Laboratory Medicine, Taipei Veterans General Hospital, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tzu-Hung","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Hsien","family":"Sung","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital and National Yang-Ming University, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Bizjajeva","sequence":"additional","affiliation":[{"name":"Shire, 6300 Zug, Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen-Chung","family":"Yu","sequence":"additional","affiliation":[{"name":"Division of Cardiology, Department of Medicine, Taipei Veterans General Hospital and National Yang-Ming University, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei 112, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 112, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2017,1,9]]},"reference":[{"key":"ref_1","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1056\/NEJM199102073240607","article-title":"An atypical variant of Fabry\u2019s disease with manifestations confined to the myocardium","volume":"324","author":"Eng","year":"1991","journal-title":"N. Engl. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry\u2019s disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"801","DOI":"10.1046\/j.1523-1755.2003.00160.x","article-title":"Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a \u201crenal variant\u201d phenotype","volume":"64","author":"Nakao","year":"2003","journal-title":"Kidney Int."},{"key":"ref_5","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":"ref_6","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1161\/CIRCGENETICS.109.862920","article-title":"High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population","volume":"2","author":"Lin","year":"2009","journal-title":"Circ. Cardiovasc. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1397","DOI":"10.1002\/humu.21074","article-title":"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)","volume":"30","author":"Hwu","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1097\/GIM.0b013e3181f6e676","article-title":"Therapeutic goals in the treatment of Fabry disease","volume":"12","author":"Mehta","year":"2010","journal-title":"Genet. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","article-title":"Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: Evidence for a better outcome with early treatment","volume":"119","author":"Weidemann","year":"2009","journal-title":"Circulation"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmedgenet-2014-102797","article-title":"Ten-year outcome of enzyme replacement therapy with agalsidase \u03b2 in patients with Fabry disease","volume":"52","author":"Germain","year":"2015","journal-title":"J. Med. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1186\/1750-1172-9-96","article-title":"Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4+919G>A)","volume":"9","author":"Hsu","year":"2014","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1016\/0735-1097(92)90385-Z","article-title":"Left ventricular mass and body size in normotensive children and adults: Assessment of allometric relations and impact of overweight","volume":"20","author":"Daniels","year":"1992","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1033","DOI":"10.1016\/j.echo.2011.07.012","article-title":"Echocardiographic assessment of Fabry cardiomyopathy: Early diagnosis and follow-up","volume":"24","author":"Pieroni","year":"2011","journal-title":"J. Am. Soc. Echocardiogr."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1161\/CIRCULATIONAHA.108.841494","article-title":"Cardiac microvascular pathology in Fabry disease: Evaluation of endomyocardial biopsies before and after enzyme replacement therapy","volume":"119","author":"Thurberg","year":"2009","journal-title":"Circulation"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ijcard.2015.04.130","article-title":"Endomyocardial biopsy in Anderson-Fabry disease: The key in uncertain cases","volume":"190","author":"Dominguez","year":"2015","journal-title":"Int. J. Cardiol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1186\/s13023-015-0253-6","article-title":"Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: The European Fabry Working Group consensus document","volume":"10","author":"Biegstraaten","year":"2015","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1016\/j.beem.2014.10.003","article-title":"Fabry disease and the heart","volume":"29","author":"Seydelmann","year":"2015","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.1016\/j.jacc.2016.09.943","article-title":"Later onset Fabry disease, cardiac damage progress in silence: Experience with a highly prevalent mutation","volume":"68","author":"Hsu","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1016\/j.echo.2005.10.005","article-title":"Recommendations for chamber quantification: A report from the American Society of Echocardiography\u2019s Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardiography, a branch of the European Society of Cardiology","volume":"18","author":"Lang","year":"2005","journal-title":"J. Am. Soc. Echocardiogr."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/18\/1\/119\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T18:25:45Z","timestamp":1760207145000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/18\/1\/119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,9]]},"references-count":19,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,1]]}},"alternative-id":["ijms18010119"],"URL":"https:\/\/doi.org\/10.3390\/ijms18010119","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,9]]}}}