{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:00:01Z","timestamp":1791216001104,"version":"4.1.0"},"reference-count":104,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T00:00:00Z","timestamp":1705536000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Anderson\u2013Fabry disease (AFD) is a lysosome storage disorder resulting from an X-linked inheritance of a mutation in the galactosidase A (GLA) gene encoding for the enzyme alpha-galactosidase A (\u03b1-GAL A). This mutation results in a deficiency or absence of \u03b1-GAL A activity, with a progressive intracellular deposition of glycosphingolipids leading to organ dysfunction and failure. Cardiac damage starts early in life, often occurring sub-clinically before overt cardiac symptoms. Left ventricular hypertrophy represents a common cardiac manifestation, albeit conduction system impairment, arrhythmias, and valvular abnormalities may also characterize AFD. Even in consideration of pleiotropic manifestation, diagnosis is often challenging. Thus, knowledge of cardiac and extracardiac diagnostic \u201cred flags\u201d is needed to guide a timely diagnosis. Indeed, considering its systemic involvement, a multidisciplinary approach may be helpful in discerning AFD-related cardiac disease. Beyond clinical pearls, a practical approach to assist clinicians in diagnosing AFD includes optimal management of biochemical tests, genetic tests, and cardiac biopsy. We extensively reviewed the current literature on AFD cardiomyopathy, focusing on cardiac \u201cred flags\u201d that may represent key diagnostic tools to establish a timely diagnosis. Furthermore, clinical findings to identify patients at higher risk of sudden death are also highlighted.<\/jats:p>","DOI":"10.3390\/diagnostics14020208","type":"journal-article","created":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T06:41:22Z","timestamp":1705560082000},"page":"208","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Anderson\u2013Fabry Disease: Red Flags for Early Diagnosis of Cardiac Involvement"],"prefix":"10.3390","volume":"14","author":[{"given":"Annamaria","family":"Iorio","sequence":"first","affiliation":[{"name":"Cardiology Department, Papa Giovanni XXIII Hospital, 24127 Bergamo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5369-5382","authenticated-orcid":false,"given":"Fabiana","family":"Luc\u00e0","sequence":"additional","affiliation":[{"name":"Cardiology Department, Grande Ospedale Metropolitano, GOM, AO Bianchi Melacrino Morelli, 89129 Reggio Calabria, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9819-2148","authenticated-orcid":false,"given":"Andrea","family":"Pozzi","sequence":"additional","affiliation":[{"name":"Cardiology Department, Valduce Hospital, 23845 Como, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo Massimiliano","family":"Rao","sequence":"additional","affiliation":[{"name":"Cardiology Department, Grande Ospedale Metropolitano, GOM, AO Bianchi Melacrino Morelli, 89129 Reggio Calabria, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Chimenti","sequence":"additional","affiliation":[{"name":"Department of Clinic, Internistic, Cardiovascular, Anesthesiologic and Geriatric Sciences, La Sapienza University of Rome, 00142 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8586-9930","authenticated-orcid":false,"given":"Stefania Angela","family":"Di Fusco","sequence":"additional","affiliation":[{"name":"Clinical and Rehabilitation Cardiology Department, San Filippo Neri Hospital, ASL Rome 1, 00135 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Rossini","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Ospedale Santa Croce e Carle, 12100 Cuneo, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Caretta","sequence":"additional","affiliation":[{"name":"Levante Ligure Sant\u2019Andrea Hospital, ASL 5 Liguria, 19121 La Spezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4311-2139","authenticated-orcid":false,"given":"Stefano","family":"Cornara","sequence":"additional","affiliation":[{"name":"Arrhytmia Unit, Division of Cardiology, Ospedale San Paolo, Azienda Sanitaria Locale 2, 17100 Savona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Giubilato","sequence":"additional","affiliation":[{"name":"Cardiology Department, Cannizzaro Hospital, 95126 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Di Matteo","sequence":"additional","affiliation":[{"name":"Cardiology Unit, ASST Grande Ospedale Metropolitano Niguarda, 20162 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8925-6149","authenticated-orcid":false,"given":"Concetta","family":"Di Nora","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Science, Azienda Sanitaria Universitaria Integrata di Udine, 33100 Udine, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Pilleri","sequence":"additional","affiliation":[{"name":"Cardiology Brotzu Hospital, 09121 Cagliari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7746-989X","authenticated-orcid":false,"given":"Sandro","family":"Gelsomino","sequence":"additional","affiliation":[{"name":"Department of Cardiothoracic Surgery, Maastricht University, 6229 ER Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberto","family":"Ceravolo","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Giovanni Paolo II Hospital, 88046 Lamezia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmine","family":"Riccio","sequence":"additional","affiliation":[{"name":"Cardiovascular Department, Sant\u2019Anna e San Sebastiano Hospital, 81100 Caserta, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9347-8884","authenticated-orcid":false,"given":"Massimo","family":"Grimaldi","sequence":"additional","affiliation":[{"name":"Cardiology Department, F. Miulli Hospital, Acquaviva delle Fonti, 70021 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Furio","family":"Colivicchi","sequence":"additional","affiliation":[{"name":"Clinical and Rehabilitation Cardiology Department, San Filippo Neri Hospital, ASL Rome 1, 00135 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizio","family":"Oliva","sequence":"additional","affiliation":[{"name":"Cardiology Unit, ASST Grande Ospedale Metropolitano Niguarda, 20162 Milano, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele Massimo","family":"Gulizia","sequence":"additional","affiliation":[{"name":"Cardiology Department, Garibaldi Nesima Hospital, 95123 Catania, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Cardiac Rare Diseases Working Group Associazione Nazionale Medici Cardiologi Ospedalieri (ANMCO)","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.jacc.2016.06.026","article-title":"Challenges in the diagnosis of anderson-fabry disease","volume":"68","author":"Marian","year":"2016","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","article-title":"Cardiac involvement in fabry disease: Jacc review topic of the week","volume":"77","author":"Pieroni","year":"2021","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","article-title":"Life expectancy and cause of death in males and females with fabry disease: Findings from the fabry registry","volume":"11","author":"Waldek","year":"2009","journal-title":"Genet. Med."},{"key":"ref_4","doi-asserted-by":"crossref","unstructured":"Vardarli, I., Weber, M., Rischpler, C., F\u00fchrer, D., Herrmann, K., and Weidemann, F. (2021). Fabry cardiomyopathy: Current treatment and future options. J. Clin. Med., 10.","DOI":"10.3390\/jcm10143026"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1136\/jmedgenet-2015-103486","article-title":"Time to treatment benefit for adult patients with fabry disease receiving agalsidase \u03b2: Data from the fabry registry","volume":"53","author":"Ortiz","year":"2016","journal-title":"J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1016\/j.ymgme.2018.02.014","article-title":"Fabry disease revisited: Management and treatment recommendations for adult patients","volume":"123","author":"Ortiz","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"838200","DOI":"10.3389\/fcvm.2022.838200","article-title":"Importance of echocardiography and clinical \u201cred flags\u201d in guiding genetic screening for fabry disease","volume":"9","author":"Citro","year":"2022","journal-title":"Front. Cardiovasc. Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"f153","DOI":"10.1093\/europace\/eux261","article-title":"Ventricular arrhythmia and sudden cardiac death in fabry disease: A systematic review of risk factors in clinical practice","volume":"20","author":"Baig","year":"2018","journal-title":"Europace"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1001\/jama.281.3.249","article-title":"Prevalence of lysosomal storage disorders","volume":"281","author":"Meikle","year":"1999","journal-title":"Jama"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1038\/jhg.2013.48","article-title":"Newborn screening for fabry disease in japan: Prevalence and genotypes of fabry disease in a pilot study","volume":"58","author":"Inoue","year":"2013","journal-title":"J. Hum. Genet."},{"key":"ref_11","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":"ref_12","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1161\/STROKEAHA.109.558320","article-title":"Frequency of unrecognized fabry disease among young european-american and african-american men with first ischemic stroke","volume":"41","author":"Wozniak","year":"2010","journal-title":"Stroke"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1136\/hrt.2005.063818","article-title":"The heart in anderson-fabry disease and other lysosomal storage disorders","volume":"93","author":"Linhart","year":"2007","journal-title":"Heart"},{"key":"ref_14","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":"ref_15","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/S0140-6736(08)61589-5","article-title":"Fabry\u2019s disease","volume":"372","author":"Zarate","year":"2008","journal-title":"Lancet"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1136\/jmg.2008.065904","article-title":"Natural course of fabry disease: Changing pattern of causes of death in fos\u2014fabry outcome survey","volume":"46","author":"Mehta","year":"2009","journal-title":"J. Med. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1136\/heartjnl-2014-306782","article-title":"Clinical and genetic predictors of major cardiac events in patients with anderson-fabry disease","volume":"101","author":"Patel","year":"2015","journal-title":"Heart"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1007\/s12551-018-0432-5","article-title":"Anderson-fabry disease in heart failure","volume":"10","author":"Akhtar","year":"2018","journal-title":"Biophys. Rev."},{"key":"ref_19","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_20","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_21","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/cge.12613","article-title":"X-chromosome inactivation in female patients with fabry disease","volume":"89","author":"Echevarria","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1136\/heartjnl-2020-318271","article-title":"Standard ecg for differential diagnosis between anderson-fabry disease and hypertrophic cardiomyopathy","volume":"108","author":"Vitale","year":"2022","journal-title":"Heart"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1136\/jmedgenet-2017-105080","article-title":"Fabry disease: Prevalence of affected males and heterozygotes with pathogenic gla mutations identified by screening renal, cardiac and stroke clinics, 1995\u20132017","volume":"55","author":"Doheny","year":"2018","journal-title":"J Med Genet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"7061","DOI":"10.3390\/jcm12227061","article-title":"Fabry disease: More than a phenocopy of hypertrophic cardiomyopathy","volume":"12","author":"Stankowski","year":"2023","journal-title":"J. Clin. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1111\/echo.14508","article-title":"Echocardiographic features of fabry cardiomyopathy-comparison with hypertrophy-matched sarcomeric hypertrophic cardiomyopathy","volume":"36","author":"Militaru","year":"2019","journal-title":"Echocardiography"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1148\/radiol.2018172613","article-title":"Use of myocardial t1 mapping at 3.0 t to differentiate anderson-fabry disease from hypertrophic cardiomyopathy","volume":"288","author":"Karur","year":"2018","journal-title":"Radiology"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1016\/j.jaccao.2022.08.009","article-title":"Al amyloidosis for cardiologists: Awareness, diagnosis, and future prospects: Jacc: Cardiooncology state-of-the-art review","volume":"4","author":"Wechalekar","year":"2022","journal-title":"JACC CardioOncol"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"4434","DOI":"10.3390\/ijms22094434","article-title":"Fabry disease and the heart: A comprehensive review","volume":"22","author":"Azevedo","year":"2021","journal-title":"Int. J. Mol. Sci."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1161\/CIRCEP.114.002569","article-title":"Pathology and function of conduction tissue in fabry disease cardiomyopathy","volume":"8","author":"Frustaci","year":"2015","journal-title":"Circ. Arrhythm. Electrophysiol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1136\/hrt.68.9.323","article-title":"Fabry\u2019s disease with complete atrioventricular block: Histological evidence of involvement of the conduction system","volume":"68","author":"Ikari","year":"1992","journal-title":"Br. Heart J."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","article-title":"Fabry disease defined: Baseline clinical manifestations of 366 patients in the fabry outcome survey","volume":"34","author":"Mehta","year":"2004","journal-title":"Eur. J. Clin. Invest."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"1228","DOI":"10.1093\/eurheartj\/ehm153","article-title":"Cardiac manifestations of anderson-fabry disease: Results from the international fabry outcome survey","volume":"28","author":"Linhart","year":"2007","journal-title":"Eur. Heart J."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"1088","DOI":"10.1093\/eurheartj\/ehp588","article-title":"Cardiovascular manifestations of fabry disease: Relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase a activity","volume":"31","author":"Wu","year":"2010","journal-title":"Eur. Heart J."},{"key":"ref_34","first-page":"6131083","article-title":"Time of anderson-fabry disease detection and cardiovascular presentation","volume":"2018","year":"2018","journal-title":"Case Rep. Cardiol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1016\/j.jval.2011.05.002","article-title":"Impact of measures to enhance the value of observational surveys in rare diseases: The fabry outcome survey (fos)","volume":"14","author":"Clarke","year":"2011","journal-title":"Value Health"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1007\/s10545-007-0521-2","article-title":"Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the fabry registry","volume":"30","author":"Eng","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1161\/01.CIR.0000061952.27445.A0","article-title":"Early detection of fabry cardiomyopathy by tissue doppler imaging","volume":"107","author":"Pieroni","year":"2003","journal-title":"Circulation"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s10741-014-9452-9","article-title":"Anderson-fabry cardiomyopathy: Prevalence, pathophysiology, diagnosis and treatment","volume":"20","author":"Putko","year":"2015","journal-title":"Heart Fail. Rev."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1161\/CIRCHEARTFAILURE.108.769729","article-title":"Angina in fabry disease reflects coronary small vessel disease","volume":"1","author":"Chimenti","year":"2008","journal-title":"Circ. Heart Fail."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/j.1651-2227.2003.tb00222.x","article-title":"Sequelae of storage in fabry disease\u2014pathology and comparison with other lysosomal storage diseases","volume":"92","author":"Elleder","year":"2003","journal-title":"Acta Paediatr. Suppl."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1864","DOI":"10.1016\/j.humpath.2007.07.001","article-title":"Coronary artery bypass grafting for fabry\u2019s disease: Veins more suitable than arteries?","volume":"38","author":"Chimenti","year":"2007","journal-title":"Hum. Pathol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"7","DOI":"10.3389\/fcvm.2016.00007","article-title":"Electrocardiographic changes and arrhythmia in fabry disease","volume":"3","author":"Namdar","year":"2016","journal-title":"Front. Cardiovasc. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1111\/j.1651-2227.2008.00700.x","article-title":"Cardiac manifestations of anderson-fabry disease in children and adolescents","volume":"97","author":"Kampmann","year":"2008","journal-title":"Acta Paediatr."},{"key":"ref_44","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":"ref_45","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1136\/hrt.2010.211789","article-title":"Electrocardiographic changes in early recognition of fabry disease","volume":"97","author":"Namdar","year":"2011","journal-title":"Heart"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1093\/eurheartj\/ehs166","article-title":"Left ventricular hypertrophy in fabry disease: A practical approach to diagnosis","volume":"34","author":"Yousef","year":"2013","journal-title":"Eur. Heart J."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.1136\/hrt.2010.196162","article-title":"Atrial biopsy evidence of fabry disease causing lone atrial fibrillation","volume":"96","author":"Chimenti","year":"2010","journal-title":"Heart"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1016\/j.amjcard.2005.05.033","article-title":"Prevalence and clinical significance of cardiac arrhythmia in anderson-fabry disease","volume":"96","author":"Shah","year":"2005","journal-title":"Am. J. Cardiol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/j.echo.2018.01.016","article-title":"Echocardiographic assessment of patients with fabry disease","volume":"31","author":"Yeung","year":"2018","journal-title":"J. Am. Soc. Echocardiogr."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"e009013","DOI":"10.1161\/CIRCIMAGING.119.009013","article-title":"Multimodality imaging assessment of fabry disease","volume":"12","author":"Jaber","year":"2019","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1067\/mhj.2000.105105","article-title":"New insights in cardiac structural changes in patients with fabry\u2019s disease","volume":"139","author":"Linhart","year":"2000","journal-title":"Am. Heart J."},{"key":"ref_52","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":"ref_53","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.jacc.2011.03.020","article-title":"Exercise-induced left ventricular outflow tract obstruction in symptomatic patients with anderson-fabry disease","volume":"58","author":"Calcagnino","year":"2011","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_54","unstructured":"Mehta, A., Beck, M., and Sunder-Plassmann, G. (2006). Fabry Disease: Perspectives from 5 Years of FOS, Oxford PharmaGenesis."},{"key":"ref_55","first-page":"469","article-title":"Cardiac variant of fabry\u2019s disease mimicking hypertrophic cardiomyopathy","volume":"44","author":"Chimenti","year":"1999","journal-title":"Cardiologia"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1221","DOI":"10.1093\/eurheartj\/ehi143","article-title":"The variation of morphological and functional cardiac manifestation in fabry disease: Potential implications for the time course of the disease","volume":"26","author":"Weidemann","year":"2005","journal-title":"Eur. Heart J."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"504","DOI":"10.1111\/echo.13496","article-title":"Loss of base-to-apex circumferential strain gradient: A specific pattern of fabry cardiomyopathy?","volume":"34","author":"Labombarda","year":"2017","journal-title":"Echocardiography"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1136\/hrt.2004.035584","article-title":"The natural history of left ventricular systolic function in anderson-fabry disease","volume":"91","author":"Shah","year":"2005","journal-title":"Heart"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"1225","DOI":"10.1007\/s10554-020-02105-y","article-title":"Does left ventricular function predict cardiac outcome in anderson-fabry disease?","volume":"37","author":"Spinelli","year":"2021","journal-title":"Int. J. Cardiovasc. Imaging"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.jjcc.2007.12.001","article-title":"Terminal stage cardiac findings in patients with cardiac fabry disease: An electrocardiographic, echocardiographic, and autopsy study","volume":"51","author":"Takenaka","year":"2008","journal-title":"J. Cardiol."},{"key":"ref_61","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":"ref_62","doi-asserted-by":"crossref","first-page":"e651","DOI":"10.1016\/j.amjmed.2009.12.022","article-title":"Department-related tasks and organ-targeted therapy in fabry disease: An interdisciplinary challenge","volume":"123","author":"Weidemann","year":"2010","journal-title":"Am. J. Med."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1186\/s12968-017-0389-8","article-title":"Clinical recommendations for cardiovascular magnetic resonance mapping of t1, t2, t2* and extracellular volume: A consensus statement by the society for cardiovascular magnetic resonance (SCMR) endorsed by the european association for cardiovascular imaging (EACVI)","volume":"19","author":"Messroghli","year":"2017","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1148\/radiol.2016141802","article-title":"State of the art: Clinical applications of cardiac t1 mapping","volume":"278","author":"Schelbert","year":"2016","journal-title":"Radiology"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1093\/ehjci\/jeaa101","article-title":"The myocardial phenotype of fabry disease pre-hypertrophy and pre-detectable storage","volume":"22","author":"Augusto","year":"2021","journal-title":"Eur. Heart J. Cardiovasc. Imaging"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1161\/CIRCIMAGING.112.000333","article-title":"T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy","volume":"6","author":"Ho","year":"2013","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"392","DOI":"10.1161\/CIRCIMAGING.112.000070","article-title":"Identification and assessment of anderson-fabry disease by cardiovascular magnetic resonance noncontrast myocardial t1 mapping","volume":"6","author":"Sado","year":"2013","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1186\/s12968-014-0099-4","article-title":"Reproducibility of native myocardial t1 mapping in the assessment of fabry disease and its role in early detection of cardiac involvement by cardiovascular magnetic resonance","volume":"16","author":"Pica","year":"2014","journal-title":"J. Cardiovasc. Magn. Reson."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 esc guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur. Heart J."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1016\/j.jcmg.2018.03.020","article-title":"Proposed stages of myocardial phenotype development in fabry disease","volume":"12","author":"Nordin","year":"2019","journal-title":"JACC Cardiovasc. Imaging"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1161\/CIRCIMAGING.113.000482","article-title":"T1 mapping with cardiovascular mri is highly sensitive for fabry disease independent of hypertrophy and sex","volume":"6","author":"Thompson","year":"2013","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.cccn.2004.10.019","article-title":"Screening for fabry disease using whole blood spots fails to identify one-third of female carriers","volume":"353","author":"Linthorst","year":"2005","journal-title":"Clin. Chim. Acta"},{"key":"ref_73","unstructured":"D Valle, B.V., Kinzel, K.W., Antonarakis, S.E., Ballabio, A., Gibson, K.M., and Mithcell, G. (2001). The Metabolic e Molecular Bases of Inheredited Disease, McGraw-Hill. [8th ed.]."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/j.ijcard.2014.09.001","article-title":"Uncertain diagnosis of fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance","volume":"177","author":"Smid","year":"2014","journal-title":"Int. J. Cardiol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/8904_2014_342","article-title":"Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: Consensus on the approach to diagnosis and follow-up","volume":"17","author":"Cassiman","year":"2014","journal-title":"JIMD Rep."},{"key":"ref_77","doi-asserted-by":"crossref","unstructured":"Politei, J., Frabasil, J., Durand, C., Di Pietrantonio, S., Fernandez, A., Albert\u00f3n, V., Velasquez Rivas, D., Barriales-Villa, R., Larra\u00f1aga-Moreira, J., and Schenone, A.B. (2021). Incidental finding of cornea verticillata or lamellar inclusions in kidney biopsy: Measurement of lyso-gb3 in plasma defines between fabry disease and drug-induced phospholipidosis. Biochim. Biophys. Acta Mol. Basis Dis., 1867.","DOI":"10.1016\/j.bbadis.2020.165985"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1053\/j.ajkd.2006.05.034","article-title":"Iatrogenic phospholipidosis mimicking fabry disease","volume":"48","author":"Bracamonte","year":"2006","journal-title":"Am. J. Kidney Dis."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1038\/gim.2018.31","article-title":"Effectiveness of plasma lyso-gb3 as a biomarker for selecting high-risk patients with fabry disease from multispecialty clinics for genetic analysis","volume":"21","author":"Maruyama","year":"2019","journal-title":"Genet. Med."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.ymgme.2010.03.020","article-title":"Plasma globotriaosylsphingosine as a biomarker of fabry disease","volume":"100","author":"Togawa","year":"2010","journal-title":"Mol. Genet. Metab."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"e002839","DOI":"10.1161\/JAHA.115.002839","article-title":"High-sensitivity troponin: A clinical blood biomarker for staging cardiomyopathy in fabry disease","volume":"5","author":"Seydelmann","year":"2016","journal-title":"J. Am. Heart Assoc."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.amjcard.2012.08.055","article-title":"Role of serum n-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with anderson-fabry disease","volume":"111","author":"Coats","year":"2013","journal-title":"Am. J. Cardiol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in fabry\u2019s disease","volume":"345","author":"Eng","year":"2001","journal-title":"N. Engl. J. Med."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"2743","DOI":"10.1001\/jama.285.21.2743","article-title":"Enzyme replacement therapy in fabry disease: A randomized controlled trial","volume":"285","author":"Schiffmann","year":"2001","journal-title":"Jama"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of fabry\u2019s disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1038\/gim.2016.122","article-title":"The validation of pharmacogenetics for the identification of fabry patients to be treated with migalastat","volume":"19","author":"Benjamin","year":"2017","journal-title":"Genet. Med."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1073\/pnas.97.1.365","article-title":"Infusion of alpha-galactosidase a reduces tissue globotriaosylceramide storage in patients with fabry disease","volume":"97","author":"Schiffmann","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1111\/j.1399-0004.2004.00284.x","article-title":"Enzyme replacement therapy with agalsidase beta improves cardiac involvement in fabry\u2019s disease","volume":"66","author":"Spinelli","year":"2004","journal-title":"Clin. Genet."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1136\/jmedgenet-2017-104863","article-title":"Agalsidase alfa versus agalsidase beta for the treatment of fabry disease: An international cohort study","volume":"55","author":"Arends","year":"2018","journal-title":"J. Med. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1111\/joim.12077","article-title":"Long-term outcome of enzyme-replacement therapy in advanced fabry disease: Evidence for disease progression towards serious complications","volume":"274","author":"Weidemann","year":"2013","journal-title":"J. Intern. Med."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1002\/ejhf.1960","article-title":"An expert consensus document on the management of cardiovascular manifestations of fabry disease","volume":"22","author":"Linhart","year":"2020","journal-title":"Eur. J. Heart Fail."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"100454","DOI":"10.1016\/j.ymgmr.2019.100454","article-title":"The effect of enzyme replacement therapy on clinical outcomes in male patients with fabry disease: A systematic literature review by a european panel of experts","volume":"19","author":"Germain","year":"2019","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_93","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_94","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/gim.2013.53","article-title":"Analysis of left ventricular mass in untreated men and in men treated with agalsidase-\u03b2: Data from the fabry registry","volume":"15","author":"Germain","year":"2013","journal-title":"Genet. Med."},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"El Dib, R., Gomaa, H., Ortiz, A., Politei, J., Kapoor, A., and Barreto, F. (2017). Enzyme replacement therapy for anderson-fabry disease: A complementary overview of a cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies. PLoS ONE, 12.","DOI":"10.1371\/journal.pone.0173358"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1161\/01.CIR.0000091253.71282.04","article-title":"Improvement of cardiac function during enzyme replacement therapy in patients with fabry disease: A prospective strain rate imaging study","volume":"108","author":"Weidemann","year":"2003","journal-title":"Circulation"},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.4155\/fmc.14.40","article-title":"Pharmacological chaperone therapy for lysosomal storage diseases","volume":"6","author":"Parenti","year":"2014","journal-title":"Future Med. Chem."},{"key":"ref_98","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":"ref_99","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1093\/ehjcvp\/pvab025","article-title":"Treatment of fabry disease management with migalastat-outcome from a prospective 24 months observational multicenter study (famous)","volume":"8","author":"Lenders","year":"2022","journal-title":"Eur. Heart J. Cardiovasc. Pharmacother."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1007\/s10157-019-01810-w","article-title":"Efficacy and safety of migalastat in a japanese population: A subgroup analysis of the attract study","volume":"24","author":"Narita","year":"2020","journal-title":"Clin. Exp. Nephrol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1002\/cpt.1832","article-title":"Treatment of fabry\u2019s disease with migalastat: Outcome from a prospective observational multicenter study (famous)","volume":"108","author":"Lenders","year":"2020","journal-title":"Clin. Pharmacol. Ther."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ymgme.2020.07.007","article-title":"Long-term efficacy and safety of migalastat treatment in fabry disease: 30-month results from the open-label extension of the randomized, phase 3 attract study","volume":"131","author":"Hughes","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1038\/s41436-019-0451-z","article-title":"Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of fabry disease and migalastat-amenable variants: Data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study","volume":"21","author":"Germain","year":"2019","journal-title":"Genet. Med."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1023\/B:BOLI.0000005658.14563.77","article-title":"Enzyme replacement therapy in heterozygous females with fabry disease: Results of a phase iiib study","volume":"26","author":"Baehner","year":"2003","journal-title":"J. Inherit. Metab. Dis."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/2\/208\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T13:49:41Z","timestamp":1760104181000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/2\/208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,18]]},"references-count":104,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,1]]}},"alternative-id":["diagnostics14020208"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics14020208","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,18]]}}}