{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:50:55Z","timestamp":1790754655129,"version":"4.1.0"},"reference-count":48,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2020,4,17]],"date-time":"2020-04-17T00:00:00Z","timestamp":1587081600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007343","name":"Shire","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007343","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Heart Journal"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.ahj.2020.04.006","type":"journal-article","created":{"date-parts":[[2020,4,18]],"date-time":"2020-04-18T18:57:46Z","timestamp":1587236266000},"page":"114-126","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"special_numbering":"C","title":["Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?"],"prefix":"10.1016","volume":"226","author":[{"given":"Olga","family":"Azevedo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuno","family":"Marques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liliana","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas","family":"Cruz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuno","family":"Craveiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Antunes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Louren\u00e7o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui Azevedo","family":"Guerreiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Faria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"S\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo","family":"Gaspar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Faria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel","family":"Miltenberger-Miltenyi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuno","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dami\u00e3o","family":"Cunha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ahj.2020.04.006_bb0005","unstructured":"Mehta A, Widmer U. Natural history of Fabry disease; in Mehta A, Beck M, Sunder-Plassmann G (ed): Fabry disease: Perspectives from 5 years of FOS. Oxford, Oxford PharmaGenesis, 2006, Chapter 18, pp 169\u2013181."},{"key":"10.1016\/j.ahj.2020.04.006_bb0010","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ahj.2020.04.006_bb0015","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1161\/01.CIR.0000012626.81324.38","article-title":"Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy","volume":"105","author":"Sachdev","year":"2002","journal-title":"Circulation"},{"key":"10.1016\/j.ahj.2020.04.006_bb0020","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1136\/heart.89.8.929","article-title":"Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy?","volume":"89","author":"Ommen","year":"2003","journal-title":"Heart"},{"key":"10.1016\/j.ahj.2020.04.006_bb0025","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1161\/01.CIR.0000139847.74101.03","article-title":"Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy","volume":"110","author":"Chimenti","year":"2004","journal-title":"Circulation"},{"key":"10.1016\/j.ahj.2020.04.006_bb0030","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1056\/NEJMoa033349","article-title":"Glycogen storage diseases presenting as hypertrophic cardiomyopathy","volume":"352","author":"Arad","year":"2005","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ahj.2020.04.006_bb0035","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1161\/CIRCULATIONAHA.105.593558","article-title":"Single-gene mutations and increased left ventricular wall thickness in the community\u2014The Framingham Heart Study","volume":"113","author":"Morita","year":"2006","journal-title":"Circulation"},{"key":"10.1016\/j.ahj.2020.04.006_bb0040","doi-asserted-by":"crossref","first-page":"2399","DOI":"10.1016\/j.jacc.2007.06.062","article-title":"Prevalence of Fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy","volume":"50","author":"Monserrat","year":"2007","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.ahj.2020.04.006_bb0045","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1093\/eurjhf\/hfq073","article-title":"Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women","volume":"12","author":"Havndrup","year":"2010","journal-title":"Eur J Heart Fail"},{"key":"10.1016\/j.ahj.2020.04.006_bb0050","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1136\/hrt.2010.200188","article-title":"Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study","volume":"97","author":"Hagege","year":"2011","journal-title":"Heart"},{"key":"10.1016\/j.ahj.2020.04.006_bb0055","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1136\/heartjnl-2011-300364","article-title":"Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease Survey","volume":"97","author":"Elliott","year":"2011","journal-title":"Heart"},{"key":"10.1016\/j.ahj.2020.04.006_bb0060","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1016\/j.ijcard.2012.10.076","article-title":"Screening for Fabry disease in patients with left ventricular hypertrophy","volume":"167","author":"Mawatari","year":"2013","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.ahj.2020.04.006_bb0065","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s10545-013-9659-2","article-title":"Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)","volume":"37","author":"Palecek","year":"2014","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ahj.2020.04.006_bb0070","doi-asserted-by":"crossref","first-page":"2555","DOI":"10.1016\/j.ijcard.2012.06.069","article-title":"Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophy","volume":"167","author":"Terryn","year":"2013","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.ahj.2020.04.006_bb0075","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1016\/j.jacc.2016.05.090","article-title":"Genetic screening of Anderson-Fabry disease in probands referred from multispecialty clinics","volume":"68","author":"Favalli","year":"2016","journal-title":"J Am Coll Cardiol"},{"key":"10.1016\/j.ahj.2020.04.006_bb0080","doi-asserted-by":"crossref","first-page":"340","DOI":"10.7150\/ijms.14997","article-title":"Screening for Fabry disease by urinary globotriaosylceramide isoforms measurement in patients with left ventricular hypertrophy","volume":"13","author":"Gaggl","year":"2016","journal-title":"Int J Med Sci"},{"key":"10.1016\/j.ahj.2020.04.006_bb0085","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1016\/j.jjcc.2016.05.014","article-title":"Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy","volume":"69","author":"Kubo","year":"2017","journal-title":"J Cardiol"},{"key":"10.1016\/j.ahj.2020.04.006_bb0090","doi-asserted-by":"crossref","first-page":"200.e1","DOI":"10.1016\/j.amjmed.2017.09.010","article-title":"Identification of Fabry disease in a tertiary referral cohort of patients with hypertrophic cardiomyopathy","volume":"131","author":"Maron","year":"2018","journal-title":"Am J Med"},{"key":"10.1016\/j.ahj.2020.04.006_bb0095","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/jmedgenet-2013-101857","article-title":"A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance","volume":"51","author":"van der Tol","year":"2014","journal-title":"J Med Genet"},{"key":"10.1016\/j.ahj.2020.04.006_bb0100","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1186\/s13023-015-0338-2","article-title":"Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment","volume":"10","author":"Kampmann","year":"2015","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.ahj.2020.04.006_bb0105","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":"10.1016\/j.ahj.2020.04.006_bb0110","doi-asserted-by":"crossref","first-page":"1986","DOI":"10.1016\/S0140-6736(09)61493-8","article-title":"et al; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data","volume":"374","author":"Mehta","year":"2009","journal-title":"Lancet"},{"key":"10.1016\/j.ahj.2020.04.006_bb0115","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1136\/jmedgenet-2016-104178","article-title":"Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study","volume":"54","author":"Hughes","year":"2017","journal-title":"J Med Genet"},{"key":"10.1016\/j.ahj.2020.04.006_bb0120","doi-asserted-by":"crossref","first-page":"1448","DOI":"10.1093\/eurheartj\/ehs397","article-title":"Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases","volume":"34","author":"Rapezzi","year":"2013","journal-title":"Eur Heart J"},{"key":"10.1016\/j.ahj.2020.04.006_bb0125","doi-asserted-by":"crossref","DOI":"10.1111\/ijcp.12914","article-title":"Time delays in the diagnosis and treatment of Fabry disease","volume":"71","author":"Reisin","year":"2017","journal-title":"Int J Clin Pract"},{"key":"10.1016\/j.ahj.2020.04.006_bb0130","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC)","volume":"35","author":"Elliott","year":"2014","journal-title":"Eur Heart J"},{"key":"10.1016\/j.ahj.2020.04.006_bb0135","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1471-2350-11-19","article-title":"Frequency of Fabry disease in male and female haemodialysis patients in Spain","volume":"11","author":"Gaspar","year":"2010","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.ahj.2020.04.006_bb0140","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1002\/humu.20144","article-title":"Detection of alpha-galactosidase A mutations causing Fabry disease by denaturing high performance liquid chromatography","volume":"25","author":"Shabbeer","year":"2005","journal-title":"Hum Mutat"},{"issue":"Espec Congr","key":"10.1016\/j.ahj.2020.04.006_bb0145","first-page":"28","article-title":"Miocardiopatia Hipertr\u00f3fica secund\u00e1ria a doen\u00e7a de Fabry: Evid\u00eancia de um efeito fundador na regi\u00e3o de Guimar\u00e3es [Abstract]","volume":"32","author":"Azevedo","year":"2013","journal-title":"Rev Port Cardiol"},{"key":"10.1016\/j.ahj.2020.04.006_bb0150","article-title":"Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype","author":"Azevedo","year":"2019","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ahj.2020.04.006_bb0155","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1007\/s10545-010-9261-9","article-title":"Toward a consensus in the laboratory diagnostics of Fabry disease\u2014recommendations of a European expert group","volume":"34","author":"Gal","year":"2011","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ahj.2020.04.006_bb0160","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/humu.1219","article-title":"Fabry disease: 20 novel GLA mutations in 35 families","volume":"18","author":"Blaydon","year":"2001","journal-title":"Hum Mutat"},{"issue":"8","key":"10.1016\/j.ahj.2020.04.006_bb0165","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1003632","article-title":"Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in Fabry disease","volume":"9","author":"Lukas","year":"2013","journal-title":"PLoS Genet"},{"key":"10.1016\/j.ahj.2020.04.006_bb0170","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1159\/000455117","article-title":"Mild left ventricular hypertrophy unravels a novel nonsense mutation of the GLA gene associated with the classical phenotype of Fabry disease","volume":"137","author":"Azevedo","year":"2017","journal-title":"Cardiology"},{"key":"10.1016\/j.ahj.2020.04.006_bb0175","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1186\/1479-7364-2-5-297","article-title":"Fabry disease: Identification of 50 novel a-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":"10.1016\/j.ahj.2020.04.006_bb0185","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1159\/000502437","article-title":"p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry disease","volume":"144","author":"Silva","year":"2019","journal-title":"Cardiology"},{"issue":"5","key":"10.1016\/j.ahj.2020.04.006_bb0200","doi-asserted-by":"crossref","first-page":"566","DOI":"10.3109\/0886022X.2012.669300","article-title":"Identification of a novel mutation and prevalence study for Fabry disease in Japanese dialysis patients","volume":"34","author":"Nishino","year":"2012","journal-title":"Ren Fail"},{"issue":"1","key":"10.1016\/j.ahj.2020.04.006_bb0205","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1086\/504601","article-title":"High incidence of later-onset Fabry disease revealed by newborn screening","volume":"79","author":"Spada","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ahj.2020.04.006_bb0210","first-page":"101","article-title":"Questioning the pathogenic role of the GLA p.Ala143Thr \"mutation\" in Fabry disease: implications for screening studies and ERT","volume":"8","author":"Terryn","year":"2013","journal-title":"JIMD Rep"},{"key":"10.1016\/j.ahj.2020.04.006_bb0215","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/j.ymgme.2014.11.004","article-title":"The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies","volume":"114","author":"Ferreira","year":"2015","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.ahj.2020.04.006_bb0220","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1136\/heartjnl-2019-315933","article-title":"Cardiomyopathy associated with the Ala143Thr variant of the \u03b1-galactosidase A gene","volume":"106","author":"Valtola","year":"2020","journal-title":"Heart"},{"key":"10.1016\/j.ahj.2020.04.006_bb0225","doi-asserted-by":"crossref","first-page":"486","DOI":"10.1002\/humu.10275","article-title":"Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele","volume":"22","author":"Yasuda","year":"2003","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ahj.2020.04.006_bb0230","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1016\/j.ehj.2003.09.017","article-title":"Gadolinium enhanced cardiovascular magnetic resonance in Anderson-Fabry disease. Evidence for a disease specific abnormality of the myocardial interstitium","volume":"24","author":"Moon","year":"2003","journal-title":"Eur Heart J"},{"key":"10.1016\/j.ahj.2020.04.006_bb0235","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/s12968-015-0192-3","article-title":"Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations","volume":"17","author":"P\u00f6yh\u00f6nen","year":"2015","journal-title":"Cardiovasc Magn Reson"},{"key":"10.1016\/j.ahj.2020.04.006_bb0240","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1186\/s12968-015-0145-x","article-title":"Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy","volume":"17","author":"Florian","year":"2015","journal-title":"J Cardiovasc Magn Reson"},{"key":"10.1016\/j.ahj.2020.04.006_bb0245","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/s12968-016-0233-6","article-title":"Cardiovascular magnetic resonance demonstration of the spectrum of morphological phenotypes and patterns of myocardial scarring in Anderson-Fabry disease","volume":"18","author":"Deva","year":"2016","journal-title":"J Cardiovasc Magn Reson"},{"key":"10.1016\/j.ahj.2020.04.006_bb0250","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1007\/s10545-012-9540-8","article-title":"Cross-sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease","volume":"36","author":"Niemann","year":"2013","journal-title":"J Inherit Metab Dis"},{"key":"10.1016\/j.ahj.2020.04.006_bb0255","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10897-007-9128-x","article-title":"Diagnosis of Fabry disease via analysis of family history","volume":"17","author":"Laney","year":"2008","journal-title":"J Genet Couns"}],"container-title":["American Heart Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002870320301125?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002870320301125?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T06:04:56Z","timestamp":1757570696000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002870320301125"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":48,"alternative-id":["S0002870320301125"],"URL":"https:\/\/doi.org\/10.1016\/j.ahj.2020.04.006","relation":{},"ISSN":["0002-8703"],"issn-type":[{"value":"0002-8703","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?","name":"articletitle","label":"Article Title"},{"value":"American Heart Journal","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ahj.2020.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}