{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T09:50:57Z","timestamp":1791453057305,"version":"4.3.3"},"reference-count":100,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T00:00:00Z","timestamp":1791158400000},"content-version":"vor","delay-in-days":88,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Fabry disease (FD) is a rare inborn error of metabolism in which absent or deficient activity of \u03b1-galactosidase A leads to lysosomal dysfunction and globotriaosylceramide accumulation in different organs, including the heart. FD is characterized by a broad clinical spectrum, but Fabry cardiomyopathy represents the leading cause of morbidity and mortality. Electrocardiogram (ECG), echocardiography, and cardiac magnetic resonance (CMR) imaging are the cornerstones to suspect and diagnose cardiac involvement and to monitor it. Cardiac biomarkers such as troponin and N-terminal pro-B-type natriuretic peptide are also used to ascertain the degree of cardiac involvement. However, definitive data are lacking on how to plan the follow-up of patients with or without cardiac involvement, when to initiate specific therapy, and when to switch from one treatment to another. Current proposals suggest initiating treatment when there is evidence of left ventricular hypertrophy but before fibrosis develops.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Main body<\/jats:title>\n                    <jats:p>Ten experts on FD met in Milan on March 8, 2024. The panel of experts was selected based on their expertise and contribution to the literature on FD. The group deliberated on appropriate parameters for cardiac assessment at diagnosis and during follow-up. The panel discussed developing a multiparametric cardiac assessment system (including ECG, laboratory biomarkers, echocardiographic and CMR parameters) to be used in clinical practice to guide management and monitor treatment response. The authors defined the requirements of such a system and advocate for the research needed to build and validate it. The experts also proposed a multiparametric clinical pathway for cardiac assessment, treatment initiation, and follow-up, designed to support routine clinical decisions. This was intended as general guidance, acknowledging that clinicians should tailor management to the individual patient\u2019s specific characteristics - a principle of particular importance in rare diseases such as FD, where organ involvement and treatment response can differ substantially among individuals.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Since cardiovascular disease is a leading cause of death in FD, an agreed staging system for evaluating cardiac progression is urgently needed. Further research should be carried out to confirm the criteria of a cardiac assessment system, evaluate its prognostic and predictive validity, and ensure its reliability and reproducibility.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-026-04485-1","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T16:55:14Z","timestamp":1783616114000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Cardiological aspects of Fabry disease: from diagnosis to therapeutic efficacy assessment"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4520-5689","authenticated-orcid":false,"given":"Francesca","family":"Graziani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0295-0440","authenticated-orcid":false,"given":"Elena","family":"Biagini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6394-9948","authenticated-orcid":false,"given":"Alessia","family":"Argir\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7796-6298","authenticated-orcid":false,"given":"Rodolfo","family":"Citro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8997-835X","authenticated-orcid":false,"given":"Guido","family":"Iaccarino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5469-6283","authenticated-orcid":false,"given":"Chiara","family":"Lanzillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7059-7525","authenticated-orcid":false,"given":"Ines","family":"Monte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1302-6846","authenticated-orcid":false,"given":"Federico","family":"Pieruzzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3955-3879","authenticated-orcid":false,"given":"Cinzia","family":"Zuchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6830-4292","authenticated-orcid":false,"given":"Maurizio","family":"Pieroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,9]]},"reference":[{"issue":"1","key":"4485_CR1","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-5-30","volume":"5","author":"DP Germain","year":"2010","unstructured":"Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5(1):30. https:\/\/doi.org\/10.1186\/1750-1172-5-30.","journal-title":"Orphanet J Rare Dis"},{"key":"4485_CR2","volume-title":"The online metabolic and molecular bases of inherited disease","author":"RJ Desnick","year":"2019","unstructured":"Desnick RJ, Ioannou YA, Eng CM. \u03b1-galactosidase a deficiency: fabry disease. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA, editors. The online metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill Education; 2019."},{"issue":"4","key":"4485_CR3","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1111\/cge.14102","volume":"101","author":"DP Germain","year":"2022","unstructured":"Germain DP, Levade T, Hachulla E, Knebelmann B, Lacombe D, Seguin VL, et al. Challenging the traditional approach for interpreting genetic variants: lessons from Fabry disease. Clin Genet. 2022;101(4):390\u2013402. https:\/\/doi.org\/10.1111\/cge.14102.","journal-title":"Clin Genet"},{"issue":"11","key":"4485_CR4","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1097\/GIM.0b013e3181bb05bb","volume":"11","author":"S Waldek","year":"2009","unstructured":"Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P. Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry registry. Genet Med. 2009;11(11):790\u201396. https:\/\/doi.org\/10.1097\/GIM.0b013e3181bb05bb.","journal-title":"Genet Med"},{"issue":"1","key":"4485_CR5","doi-asserted-by":"publisher","first-page":"206","DOI":"10.3390\/ijms22010206","volume":"22","author":"O Azevedo","year":"2020","unstructured":"Azevedo O, Gago MF, Miltenberger-Miltenyi G, Sousa N, Cunha D. Fabry disease therapy: state-of-the-art and current challenges. IJMS. 2020;22(1):206. https:\/\/doi.org\/10.3390\/ijms22010206.","journal-title":"IJMS"},{"issue":"1","key":"4485_CR6","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s13023-015-0253-6","volume":"10","author":"M Biegstraaten","year":"2015","unstructured":"Biegstraaten M, Arngrimsson R, Barbey F, Boks L, Cecchi F, Deegan PB, et al. Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working group consensus document. Orphanet J Rare Dis. 2015;10(1):36. https:\/\/doi.org\/10.1186\/s13023-015-0253-6.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"4485_CR7","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1016\/j.ymgme.2014.01.014","volume":"111","author":"SM Sirrs","year":"2014","unstructured":"Sirrs SM, Bichet DG, Casey R, Clarke JTR, Lemoine K, Doucette S, et al. Outcomes of patients treated through the Canadian Fabry disease initiative. Mol Genet Metab. 2014;111(4):499\u2013506. https:\/\/doi.org\/10.1016\/j.ymgme.2014.01.014.","journal-title":"Mol Genet Metab"},{"issue":"7","key":"4485_CR8","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1093\/ehjci\/jeaa101","volume":"22","author":"JB Augusto","year":"2021","unstructured":"Augusto JB, Johner N, Shah D, Nordin S, Knott KD, Rosmini S, et al. The myocardial phenotype of Fabry disease pre-hypertrophy and pre-detectable storage. Eur Heart J - Cardiovasc Imag. 2021;22(7):790\u201399. https:\/\/doi.org\/10.1093\/ehjci\/jeaa101.","journal-title":"Eur Heart J - Cardiovasc Imag"},{"key":"4485_CR9","doi-asserted-by":"publisher","unstructured":"Augusto JB, Nordin S, Vijapurapu R, Baig S, Bulluck H, Castelletti S, et al. Myocardial edema, myocyte injury, and disease severity in Fabry disease. Circ: Cardiovasc Imag. 2020;13(3):e010171. https:\/\/doi.org\/10.1161\/CIRCIMAGING.119.010171.","DOI":"10.1161\/CIRCIMAGING.119.010171"},{"issue":"8","key":"4485_CR10","doi-asserted-by":"publisher","first-page":"1673","DOI":"10.1016\/j.jcmg.2018.03.020","volume":"12","author":"S Nordin","year":"2019","unstructured":"Nordin S, Kozor R, Medina-Menacho K, Abdel-Gadir A, Baig S, Sado DM, et al. Proposed stages of myocardial phenotype development in Fabry disease. JACC Cardiovasc Imag. 2019;12(8):1673\u201383. https:\/\/doi.org\/10.1016\/j.jcmg.2018.03.020.","journal-title":"JACC Cardiovasc Imag"},{"key":"4485_CR11","doi-asserted-by":"publisher","unstructured":"Monda E, Diana G, Graziani F, Rubino M, Bakalakos A, Linhart A, et al. Impact of GLA variant classification on the estimated prevalence of Fabry disease: a systematic review and meta-analysis of screening studies. Circ: Evidence Precis Med. 2023;16:e004252. https:\/\/doi.org\/10.1161\/CIRCGEN.123.004252.","DOI":"10.1161\/CIRCGEN.123.004252"},{"key":"4485_CR12","doi-asserted-by":"publisher","unstructured":"Reisin R, Perrin A, Garcia-Pavia P. Time delays in the diagnosis and treatment of Fabry disease. Int J Clin Pract. 2017;71(1):e12914. https:\/\/doi.org\/10.1111\/ijcp.12914.","DOI":"10.1111\/ijcp.12914"},{"issue":"10","key":"4485_CR13","doi-asserted-by":"publisher","first-page":"1228","DOI":"10.1093\/eurheartj\/ehm153","volume":"28","author":"A Linhart","year":"2007","unstructured":"Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J. 2007;28(10):1228\u201335. https:\/\/doi.org\/10.1093\/eurheartj\/ehm153.","journal-title":"Eur Heart J"},{"issue":"12","key":"4485_CR14","doi-asserted-by":"publisher","first-page":"2321","DOI":"10.1016\/j.clinthera.2020.10.007","volume":"42","author":"S Feriozzi","year":"2020","unstructured":"Feriozzi S, Linhart A, Ramaswami U, Kalampoki V, Gurevich A, Hughes D. Effects of baseline left ventricular hypertrophy and decreased renal function on cardiovascular and renal outcomes in patients with Fabry disease treated with agalsidase alfa: a Fabry outcome survey study. Clin Ther. 2020;42(12):2321\u201330.e0. https:\/\/doi.org\/10.1016\/j.clinthera.2020.10.007.","journal-title":"Clin Ther"},{"issue":"9","key":"4485_CR15","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1093\/eurheartj\/ehp588","volume":"31","author":"JC Wu","year":"2010","unstructured":"Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, et al. Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and -galactosidase a activity. Eur Heart J. 2010;31(9):1088\u201397. https:\/\/doi.org\/10.1093\/eurheartj\/ehp588.","journal-title":"Eur Heart J"},{"issue":"15","key":"4485_CR16","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1136\/heartjnl-2024-323975","volume":"110","author":"N Maurizi","year":"2024","unstructured":"Maurizi N, Nowak A, Gruner C, Namdar M, Schmied C, Porretta AP, et al. Fabry disease: development and progression of left ventricular hypertrophy despite long-term enzyme replacement therapy. Heart. 2024;110(15):997\u20131004. https:\/\/doi.org\/10.1136\/heartjnl-2024-323975.","journal-title":"Heart"},{"issue":"7","key":"4485_CR17","doi-asserted-by":"publisher","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","volume":"77","author":"M Pieroni","year":"2021","unstructured":"Pieroni M, Moon JC, Arbustini E, Barriales-Villa R, Camporeale A, Vujkovac AC, et al. Cardiac involvement in Fabry disease: JACC review topic of the week. J Am Coll Cardiol. 2021;77(7):922\u201336. https:\/\/doi.org\/10.1016\/j.jacc.2020.12.024.","journal-title":"J Am Coll Cardiol"},{"issue":"6","key":"4485_CR18","doi-asserted-by":"publisher","first-page":"196","DOI":"10.31083\/j.rcm2306196","volume":"23","author":"M Pieroni","year":"2022","unstructured":"Pieroni M, Ciabatti M, Graziani F, Camporeale A, Saletti E, Lillo R, et al. The heart in Fabry disease: mechanisms beyond storage and forthcoming therapies. Rev Cardiovasc Med. 2022;23(6):196. https:\/\/doi.org\/10.31083\/j.rcm2306196.","journal-title":"Rev Cardiovasc Med"},{"key":"4485_CR19","doi-asserted-by":"publisher","unstructured":"Frustaci A, Verardo R, Grande C, Galea N, Piselli P, Carbone I, et al. Immune-mediated myocarditis in Fabry disease cardiomyopathy. JAHA. 2018;7(17):e009052. https:\/\/doi.org\/10.1161\/JAHA.118.009052.","DOI":"10.1161\/JAHA.118.009052"},{"issue":"3","key":"4485_CR20","doi-asserted-by":"publisher","first-page":"106074","DOI":"10.1016\/j.isci.2023.106074","volume":"26","author":"J Gambardella","year":"2023","unstructured":"Gambardella J, Fiordelisi A, Cerasuolo FA, Buonaiuto A, Avvisato R, Viti A, et al. Experimental evidence and clinical implications of Warburg effect in the skeletal muscle of Fabry disease. iScience. 2023;26(3):106074. https:\/\/doi.org\/10.1016\/j.isci.2023.106074.","journal-title":"iScience"},{"issue":"1","key":"4485_CR21","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1124\/jpet.122.001250","volume":"384","author":"J Gambardella","year":"2023","unstructured":"Gambardella J, Fiordelisi A, Sorriento D, Cerasuolo F, Buonaiuto A, Avvisato R, et al. Mitochondrial microRNAs are dysregulated in patients with Fabry disease. J Pharmacol Exp Ther. 2023;384(1):72\u201378. https:\/\/doi.org\/10.1124\/jpet.122.001250.","journal-title":"J Pharmacol Exp Ther"},{"key":"4485_CR22","doi-asserted-by":"publisher","unstructured":"Gambardella J, Fiordelisi A, Avvisato R, Cerasuolo FA, Buonaiuto A, Prevete N, et al. Abstract 15660: impaired mitochondrial quality control drives the development of cardiomyopathy in Anderson-Fabry disease. Circulation. 2022;146(Suppl_1):A15660. https:\/\/doi.org\/10.1161\/circ.146.suppl_1.15660.","DOI":"10.1161\/circ.146.suppl_1.15660"},{"key":"4485_CR23","doi-asserted-by":"publisher","unstructured":"Graziani F, Lillo R, Panaioli E, Spagnoletti G, Bruno I, Leccisotti L, et al. Massive coronary microvascular dysfunction in severe Anderson-Fabry disease cardiomyopathy. Circ: Cardiovasc Imag. 2019;12(6):e009104. https:\/\/doi.org\/10.1161\/CIRCIMAGING.119.009104.","DOI":"10.1161\/CIRCIMAGING.119.009104"},{"issue":"8","key":"4485_CR24","doi-asserted-by":"publisher","first-page":"1518","DOI":"10.1016\/j.jcmg.2022.03.004","volume":"15","author":"F Graziani","year":"2022","unstructured":"Graziani F, Leccisotti L, Lillo R, Bruno I, Ingrasciotta G, Leone AM, et al. Coronary microvascular dysfunction is associated with a worse cardiac phenotype in patients with Fabry disease. JACC Cardiovasc Imag. 2022;15(8):1518\u201320. https:\/\/doi.org\/10.1016\/j.jcmg.2022.03.004.","journal-title":"JACC Cardiovasc Imag"},{"key":"4485_CR25","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/j.ijcard.2022.07.046","volume":"369","author":"F Graziani","year":"2022","unstructured":"Graziani F, Lillo R, Biagini E, Limongelli G, Autore C, Pieroni M, et al. Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease. Int J Cardiol. 2022;369:29\u201332. https:\/\/doi.org\/10.1016\/j.ijcard.2022.07.046.","journal-title":"Int J Cardiol"},{"issue":"2","key":"4485_CR26","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1111\/cge.13546","volume":"96","author":"DP Germain","year":"2019","unstructured":"Germain DP, Fouilhoux A, Decramer S, Tardieu M, Pillet P, Fila M, et al. Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients. Clin Genet. 2019;96(2):107\u201317. https:\/\/doi.org\/10.1111\/cge.13546.","journal-title":"Clin Genet"},{"issue":"2","key":"4485_CR27","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/j.ymgme.2015.10.007","volume":"117","author":"RJ Hopkin","year":"2016","unstructured":"Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, et al. The management and treatment of children with Fabry disease: a United States-based perspective. Mol Genet Metab. 2016;117(2):104\u201313. https:\/\/doi.org\/10.1016\/j.ymgme.2015.10.007.","journal-title":"Mol Genet Metab"},{"issue":"9","key":"4485_CR28","doi-asserted-by":"publisher","first-page":"1994","DOI":"10.3390\/jcm10091994","volume":"10","author":"R Esposito","year":"2021","unstructured":"Esposito R, Santoro C, Mandoli GE, Cuomo V, Sorrentino R, La Mura L, et al. Cardiac imaging in Anderson-Fabry disease: past, present and future. JCM. 2021, 1994;10(9):1994. https:\/\/doi.org\/10.3390\/jcm10091994.","journal-title":"JCM"},{"issue":"4","key":"4485_CR29","doi-asserted-by":"publisher","first-page":"337","DOI":"10.6515\/ACS.202107_37(4).20210601A","volume":"37","author":"CL Hung","year":"2021","unstructured":"Hung CL, Wu YW, Lin CC, Lai C-H, Jyh-Ming Juang J, Chao T-H, et al. 2021 TSOC expert consensus on the clinical features, diagnosis, and clinical management of cardiac manifestations of Fabry disease. Acta Cardiol Sin. 2021;37(4):337\u201354. https:\/\/doi.org\/10.6515\/ACS.202107_37(4).20210601A.","journal-title":"Acta Cardiol Sin"},{"issue":"3","key":"4485_CR30","doi-asserted-by":"publisher","first-page":"868","DOI":"10.3390\/jcm11030868","volume":"11","author":"E Monda","year":"2022","unstructured":"Monda E, Palmiero G, Lioncino M, Rubino M, Cirillo A, Fusco A, et al. Multimodality imaging in cardiomyopathies with hypertrophic phenotypes. JCM. 2022;11(3):868. https:\/\/doi.org\/10.3390\/jcm11030868.","journal-title":"JCM"},{"issue":"1","key":"4485_CR31","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s12947-019-0151-5","volume":"17","author":"W Serra","year":"2019","unstructured":"Serra W, Marziliano N. Role of cardiac imaging in Anderson-Fabry cardiomyopathy. Cardiovasc Ultrasound. 2019;17(1):1. https:\/\/doi.org\/10.1186\/s12947-019-0151-5.","journal-title":"Cardiovasc Ultrasound"},{"issue":"2","key":"4485_CR32","doi-asserted-by":"publisher","first-page":"208","DOI":"10.3390\/diagnostics14020208","volume":"14","author":"A Iorio","year":"2024","unstructured":"Iorio A, Luca F, Pozzi A, Rao CM, Chimenti C, Di Fusco SA, et al. Anderson\u2013Fabry disease: red flags for early diagnosis of cardiac involvement. Diagn (Basel). 2024;14(2):208. https:\/\/doi.org\/10.3390\/diagnostics14020208.","journal-title":"Diagn (Basel)"},{"issue":"1","key":"4485_CR33","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1136\/heartjnl-2020-318271","volume":"108","author":"G Vitale","year":"2022","unstructured":"Vitale G, Ditaranto R, Graziani F, Tanini I, Camporeale A, Lillo R, et al. Standard ECG for differential diagnosis between Anderson-Fabry disease and hypertrophic cardiomyopathy. Heart. 2022;108(1):54\u201360. https:\/\/doi.org\/10.1136\/heartjnl-2020-318271.","journal-title":"Heart"},{"key":"4485_CR34","doi-asserted-by":"publisher","first-page":"1184361","DOI":"10.3389\/fcvm.2023.1184361","volume":"10","author":"V Parisi","year":"2023","unstructured":"Parisi V, Baldassarre R, Ferrara V, Ditaranto R, Barlocco F, Lillo R, et al. Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking. Front Cardiovasc Med. 2023;10:1184361. https:\/\/doi.org\/10.3389\/fcvm.2023.1184361.","journal-title":"Front Cardiovasc Med"},{"issue":"3","key":"4485_CR35","doi-asserted-by":"publisher","first-page":"354","DOI":"10.3390\/diagnostics13030354","volume":"13","author":"M El Sayed","year":"2023","unstructured":"El Sayed M, Postema PG, Datema M, van Dussen L, Kors JA, Ter Haar CC, et al. ECG changes during adult life in Fabry disease: results from a large longitudinal cohort study. Diagn (Basel). 2023;13(3):354. https:\/\/doi.org\/10.3390\/diagnostics13030354.","journal-title":"Diagn (Basel)"},{"key":"4485_CR36","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.amjcard.2022.05.021","volume":"178","author":"E Antezana-Chavez","year":"2022","unstructured":"Antezana-Chavez E, Cianciulli TF, Hadid CL, Toro DD, Celano L, Saccheri MC, et al. Value of electrocardiography to distinguish Fabry disease from sarcomeric hypertrophic cardiomyopathy. The Am J Cardiol. 2022;178:131\u201336. https:\/\/doi.org\/10.1016\/j.amjcard.2022.05.021.","journal-title":"The Am J Cardiol"},{"key":"4485_CR37","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1016\/j.ijcard.2021.06.032","volume":"338","author":"M Namdar","year":"2021","unstructured":"Namdar M, Richardot P, Johner N, Shah D, Nordbeck P, Olivotto I, et al. Recognition of pre-hypertrophic cardiac involvement in Fabry disease based on automated electrocardiographic measures. Int J Cardiol. 2021;338:121\u201326. https:\/\/doi.org\/10.1016\/j.ijcard.2021.06.032.","journal-title":"Int J Cardiol"},{"issue":"12","key":"4485_CR38","doi-asserted-by":"publisher","first-page":"1781","DOI":"10.1093\/europace\/eur267","volume":"13","author":"C O\u2019Mahony","year":"2011","unstructured":"O\u2019Mahony C, Coats C, Cardona M, Garcia A, Calcagnino M, Murphy E, et al. Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease. Europace. 2011;13(12):1781\u201388. https:\/\/doi.org\/10.1093\/europace\/eur267.","journal-title":"Europace"},{"key":"4485_CR39","doi-asserted-by":"publisher","unstructured":"Camporeale A, Pieroni M, Pieruzzi F, Lusardi P, Pica S, Spada M, et al. Predictors of clinical evolution in prehypertrophic Fabry disease. Circ: Cardiovasc Imag. 2019;12(4):e008424. https:\/\/doi.org\/10.1161\/CIRCIMAGING.118.008424.","DOI":"10.1161\/CIRCIMAGING.118.008424"},{"key":"4485_CR40","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1016\/j.ijcard.2021.07.022","volume":"339","author":"S Figliozzi","year":"2021","unstructured":"Figliozzi S, Camporeale A, Boveri S, Pieruzzi F, Pieroni M, Lusardi P, et al. ECG-based score estimates the probability to detect Fabry disease cardiac involvement. Int J Cardiol. 2021;339:110\u201317. https:\/\/doi.org\/10.1016\/j.ijcard.2021.07.022.","journal-title":"Int J Cardiol"},{"issue":"1","key":"4485_CR41","doi-asserted-by":"publisher","first-page":"11","DOI":"10.3390\/jcdd9010011","volume":"9","author":"M Zada","year":"2022","unstructured":"Zada M, Lo Q, Trivedi SJ, Harapoz M, Boyd AC, Devine K, et al. Electrocardiographic characteristics and their correlation with echocardiographic alterations in Fabry disease. JCDD. 2022;9(1):11. https:\/\/doi.org\/10.3390\/jcdd9010011.","journal-title":"JCDD"},{"key":"4485_CR42","doi-asserted-by":"publisher","unstructured":"Vijapurapu R, Roy A, Demetriades P, Warfield A, Hughes DA, Moon J, et al. Systematic review of the incidence and clinical risk predictors of atrial fibrillation and permanent pacemaker implantation for bradycardia in Fabry disease. Open Heart. 2023;10(2):e002316. https:\/\/doi.org\/10.1136\/openhrt-2023-002316.","DOI":"10.1136\/openhrt-2023-002316"},{"issue":"6","key":"4485_CR43","doi-asserted-by":"publisher","first-page":"201","DOI":"10.31083\/j.rcm2306201","volume":"23","author":"R Lillo","year":"2022","unstructured":"Lillo R, Pieroni M, Camporeale A, Ciabatti M, Lombardo A, Massetti M, et al. Echocardiography in Anderson-Fabry disease. Rev Cardiovasc Med. 2022;23(6):201. https:\/\/doi.org\/10.31083\/j.rcm2306201.","journal-title":"Rev Cardiovasc Med"},{"key":"4485_CR44","doi-asserted-by":"publisher","first-page":"1183485","DOI":"10.3389\/fcvm.2023.1183485","volume":"10","author":"A Ferkh","year":"2023","unstructured":"Ferkh A, Tjahjadi C, Stefani L, Geenty P, Byth K, De Silva K, et al. Cardiac \u201chypertrophy\u201d phenotyping: differentiating aetiologies with increased left ventricular wall thickness on echocardiography. Front Cardiovasc Med. 2023;10:1183485. https:\/\/doi.org\/10.3389\/fcvm.2023.1183485.","journal-title":"Front Cardiovasc Med"},{"key":"4485_CR45","doi-asserted-by":"publisher","first-page":"131891","DOI":"10.1016\/j.ijcard.2024.131891","volume":"402","author":"MC Meucci","year":"2024","unstructured":"Meucci MC, Lillo R, Mango F, Marsilia M, Iannaccone G, Tusa F, et al. Left atrial structural and functional remodelling in Fabry disease and cardiac amyloidosis: a comparative analysis. Int J Cardiol. 2024;402:131891. https:\/\/doi.org\/10.1016\/j.ijcard.2024.131891.","journal-title":"Int J Cardiol"},{"issue":"3","key":"4485_CR46","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.echo.2016.11.014","volume":"30","author":"F Graziani","year":"2017","unstructured":"Graziani F, Laurito M, Pieroni M, Pennestr\u00ec F, Lanza GA, Coluccia V, et al. Right ventricular hypertrophy, systolic function, and disease severity in Anderson-Fabry disease: an echocardiographic study. J Am Soc Echocardiogr. 2017;30(3):282\u201391. https:\/\/doi.org\/10.1016\/j.echo.2016.11.014.","journal-title":"J Am Soc Echocardiogr"},{"issue":"4","key":"4485_CR47","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1093\/ehjci\/jeac151","volume":"24","author":"MC Meucci","year":"2023","unstructured":"Meucci MC, Lillo R, Lombardo A, Lanza GA, Bootsma M, Butcher SC, et al. Comparative analysis of right ventricular strain in Fabry cardiomyopathy and sarcomeric hypertrophic cardiomyopathy. Eur Heart J - Cardiovasc Imag. 2023;24(4):542\u201351. https:\/\/doi.org\/10.1093\/ehjci\/jeac151.","journal-title":"Eur Heart J - Cardiovasc Imag"},{"key":"4485_CR48","doi-asserted-by":"publisher","first-page":"1496534","DOI":"10.3389\/fcvm.2025.1496534","volume":"12","author":"R Lillo","year":"2025","unstructured":"Lillo R, Cianci A, Meucci MC, Iannaccone G, Di Brango C, Tusa F, et al. Right atrial strain in Anderson\u2013Fabry disease. Front Cardiovasc Med. 2025;12:1496534. https:\/\/doi.org\/10.3389\/fcvm.2025.1496534.","journal-title":"Front Cardiovasc Med"},{"issue":"8","key":"4485_CR49","doi-asserted-by":"publisher","first-page":"787","DOI":"10.1016\/j.echo.2024.04.010","volume":"37","author":"HC Chang","year":"2024","unstructured":"Chang HC, Kuo L, Sung SH, Niu DM, Yu WC. Prognostic implications of left ventricular hypertrophy and Mechanical function in Fabry disease: a longitudinal cohort study. J Am Soc Echocardiogr. 2024;37(8):787\u201396. https:\/\/doi.org\/10.1016\/j.echo.2024.04.010.","journal-title":"J Am Soc Echocardiogr"},{"issue":"7","key":"4485_CR50","doi-asserted-by":"publisher","first-page":"1333","DOI":"10.1007\/s10554-020-01823-7","volume":"36","author":"P Reant","year":"2020","unstructured":"Reant P, Testet E, Reynaud A, Bourque C, Michaud M, Rooryck C, et al. Characterization of Fabry disease cardiac involvement according to longitudinal strain, cardiometabolic exercise test, and T1 mapping. Int J Cardiovasc Imag. 2020;36(7):1333\u201342. https:\/\/doi.org\/10.1007\/s10554-020-01823-7.","journal-title":"Int J Cardiovasc Imag"},{"key":"4485_CR51","doi-asserted-by":"publisher","unstructured":"Faro DC, Losi V, Rodolico MS, Licciardi S, Monte IP. Speckle tracking echocardiography-derived parameters as new prognostic markers in hypertrophic cardiomyopathies. Eur Heart J Open. 2023;3(2):oead014. https:\/\/doi.org\/10.1093\/ehjopen\/oead014.","DOI":"10.1093\/ehjopen\/oead014"},{"issue":"12","key":"4485_CR52","doi-asserted-by":"publisher","first-page":"1629","DOI":"10.1093\/ehjci\/jead121","volume":"24","author":"J Marek","year":"2023","unstructured":"Marek J, Chocholova B, Rob D, Pale\u010dek T, Ma\u0161ek M, Dost\u00e1lov\u00e1 G, et al. Three-dimensional echocardiographic left ventricular strain analysis in Fabry disease: correlation with heart failure severity, myocardial scar, and impact on long-term prognosis. Eur Heart J - Cardiovasc Imag. 2023;24(12):1629\u201337. https:\/\/doi.org\/10.1093\/ehjci\/jead121.","journal-title":"Eur Heart J - Cardiovasc Imag"},{"issue":"11","key":"4485_CR53","doi-asserted-by":"publisher","first-page":"2652","DOI":"10.3390\/diagnostics12112652","volume":"12","author":"GD Aquaro","year":"2022","unstructured":"Aquaro GD, De Gori C, Faggioni L, Parisella ML, Aringhieri G, Cioni D, et al. Cardiac magnetic resonance in Fabry disease: morphological, functional, and tissue features. Diagn (Basel). 2022;12(11):2652. https:\/\/doi.org\/10.3390\/diagnostics12112652.","journal-title":"Diagn (Basel)"},{"issue":"37","key":"4485_CR54","doi-asserted-by":"publisher","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","volume":"44","author":"E Arbelo","year":"2023","unstructured":"Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, et al. 2023 ESC guidelines for the management of cardiomyopathies. Eur Heart J. 2023;44(37):3503\u2013626. https:\/\/doi.org\/10.1093\/eurheartj\/ehad194.","journal-title":"Eur Heart J"},{"key":"4485_CR55","doi-asserted-by":"publisher","unstructured":"O\u2019Brien C, Britton I, Karur GR, Iwanochko RM, Morel CF, Nguyen ET, et al. Left ventricular mass and wall thickness measurements using echocardiography and cardiac MRI in patients with Fabry disease: clinical significance of discrepant findings. Radiol Cardiothorac Imag. 2020;2(3):e190149. https:\/\/doi.org\/10.1148\/ryct.2020190149.","DOI":"10.1148\/ryct.2020190149"},{"issue":"12","key":"4485_CR56","doi-asserted-by":"publisher","first-page":"1629","DOI":"10.1016\/j.jcmg.2023.06.011","volume":"16","author":"R Ditaranto","year":"2023","unstructured":"Ditaranto R, Leone O, Lovato L, Niro F, Cenacchi G, Papa V, et al. Correlations between cardiac magnetic resonance and myocardial histologic findings in Fabry disease. JACC Cardiovasc Imag. 2023;16(12):1629\u201332. https:\/\/doi.org\/10.1016\/j.jcmg.2023.06.011.","journal-title":"JACC Cardiovasc Imag"},{"issue":"1","key":"4485_CR57","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s12968-022-00859-z","volume":"24","author":"A Ponsiglione","year":"2022","unstructured":"Ponsiglione A, Gambardella M, Green R, Cantoni V, Nappi C, Ascione R, et al. Cardiovascular magnetic resonance native T1 mapping in Anderson-Fabry disease: a systematic review and meta-analysis. J Cardiovasc Magnetic Reson. 2022;24(1):31. https:\/\/doi.org\/10.1186\/s12968-022-00859-z.","journal-title":"J Cardiovasc Magnetic Reson"},{"key":"4485_CR58","doi-asserted-by":"publisher","unstructured":"Tao E, Moiseev A, Mershina E, Bobkova I, Moiseev S. Predictive value of cardiac MRI in patients with Fabry disease. Radiology. 2020;296(2):E123. https:\/\/doi.org\/10.1148\/radiol.2020200909.","DOI":"10.1148\/radiol.2020200909"},{"key":"4485_CR59","doi-asserted-by":"publisher","unstructured":"Ditaranto R, Leone O, Lovato L, Baldovini C, Niro F, Kurdi H, et al. Myocardial inflammation in Fabry disease: correlations between myocardial histology, T2 mapping, and troponin. Eur Heart J. 2023;44(Supplement_2):ehad655 1617. https:\/\/doi.org\/10.1093\/eurheartj\/ehad655.1617.","DOI":"10.1093\/eurheartj\/ehad655.1617"},{"issue":"6","key":"4485_CR60","doi-asserted-by":"publisher","first-page":"592","DOI":"10.1016\/j.jcmg.2011.01.020","volume":"4","author":"M Niemann","year":"2011","unstructured":"Niemann M, Herrmann S, Hu K, Breunig F, Strotmann J, Beer M, et al. Differences in Fabry cardiomyopathy between female and male patients: consequences for diagnostic assessment. JACC Cardiovasc Imag. 2011;4(6):592\u2013601. https:\/\/doi.org\/10.1016\/j.jcmg.2011.01.020.","journal-title":"JACC Cardiovasc Imag"},{"issue":"10","key":"4485_CR61","doi-asserted-by":"publisher","first-page":"982","DOI":"10.1016\/j.jacc.2022.06.022","volume":"80","author":"C Orsborne","year":"2022","unstructured":"Orsborne C, Bradley J, Bonnett LJ, Pleva LA, Naish JH, Clark DG, et al. Validated model for prediction of adverse cardiac outcome in patients with Fabry disease. J Am Coll Cardiol. 2022;80(10):982\u201394. https:\/\/doi.org\/10.1016\/j.jacc.2022.06.022.","journal-title":"J Am Coll Cardiol"},{"issue":"21","key":"4485_CR62","doi-asserted-by":"publisher","first-page":"8080","DOI":"10.3390\/ijms21218080","volume":"21","author":"I Simonetta","year":"2020","unstructured":"Simonetta I, Tuttolomondo A, Daidone M, Pinto A. Biomarkers in Anderson\u2013Fabry disease. IJMS. 2020;21(21):8080. https:\/\/doi.org\/10.3390\/ijms21218080.","journal-title":"IJMS"},{"issue":"1","key":"4485_CR63","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1038\/gim.2018.31","volume":"21","author":"H Maruyama","year":"2019","unstructured":"Maruyama H, Miyata K, Mikame M, Taguchi A, Guili C, Shimura M, et al. Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis. Genet Med. 2019;21(1):44\u201352. https:\/\/doi.org\/10.1038\/gim.2018.31.","journal-title":"Genet Med"},{"issue":"1","key":"4485_CR64","doi-asserted-by":"publisher","first-page":"100033","DOI":"10.1016\/j.gimo.2023.100033","volume":"1","author":"W Li","year":"2023","unstructured":"Li W, Stauffer B, Chen H, Xiao J, Phua YL, Cody N, et al. P023: the clinical utility of plasma lyso-Gb3 in the diagnosis of Fabry disease in infants and adults. Genet Med Open. 2023;1(1):100033. https:\/\/doi.org\/10.1016\/j.gimo.2023.100033.","journal-title":"Genet Med Open"},{"issue":"2","key":"4485_CR65","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1016\/j.ymgme.2018.11.005","volume":"126","author":"F Weidemann","year":"2019","unstructured":"Weidemann F, Beer M, Kralewski M, Siwy J, Kampmann C. Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study. Mol Genet Metab. 2019;126(2):169\u201382. https:\/\/doi.org\/10.1016\/j.ymgme.2018.11.005.","journal-title":"Mol Genet Metab"},{"key":"4485_CR66","doi-asserted-by":"publisher","unstructured":"Seydelmann N, Liu D, Kramer J, Drechsler C, Hu K, Nordbeck P, et al. High-sensitivity troponin: a clinical blood biomarker for staging cardiomyopathy in Fabry disease. JAHA. 2016;5(6):e002114. https:\/\/doi.org\/10.1161\/JAHA.115.002839.","DOI":"10.1161\/JAHA.115.002839"},{"issue":"1","key":"4485_CR67","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/j.amjcard.2012.08.055","volume":"111","author":"CJ Coats","year":"2013","unstructured":"Coats CJ, Parisi V, Ramos M, Janagarajan K, O\u2019Mahony C, Dawnay A, et al. Role of serum N-terminal pro-brain natriuretic peptide measurement in diagnosis of cardiac involvement in patients with Anderson-Fabry disease. The Am J Cardiol. 2013;111(1):111\u201317. https:\/\/doi.org\/10.1016\/j.amjcard.2012.08.055.","journal-title":"The Am J Cardiol"},{"issue":"5","key":"4485_CR68","doi-asserted-by":"publisher","first-page":"1065","DOI":"10.1007\/s10741-023-10307-4","volume":"28","author":"R Lillo","year":"2023","unstructured":"Lillo R, Graziani F, Franceschi F, Iannaccone G, Massetti M, Olivotto I, et al. Inflammation across the spectrum of hypertrophic cardiac phenotypes. Heart Fail Rev. 2023;28(5):1065\u201375. https:\/\/doi.org\/10.1007\/s10741-023-10307-4.","journal-title":"Heart Fail Rev"},{"key":"4485_CR69","doi-asserted-by":"crossref","unstructured":"Powell AW, Wittekind SG, Mays WA, et al. Arrhythmia burden and heart rate response during exercise in Anderson-Fabry disease. Tex Heart Inst J. 2022;49:e207363.","DOI":"10.14503\/THIJ-20-7363"},{"key":"4485_CR70","doi-asserted-by":"publisher","first-page":"1396996","DOI":"10.3389\/fcvm.2024.1396996","volume":"11","author":"O De Marco","year":"2024","unstructured":"De Marco O, Gambardella J, Bianco A, Fiordelisi A, Cerasuolo FA, Buonaiuto A, et al. Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease. Front Cardiovasc Med. 2024;11:1396996. https:\/\/doi.org\/10.3389\/fcvm.2024.1396996.","journal-title":"Front Cardiovasc Med"},{"issue":"9","key":"4485_CR71","doi-asserted-by":"publisher","first-page":"1852","DOI":"10.1002\/ajmg.a.40369","volume":"176","author":"AW Powell","year":"2018","unstructured":"Powell AW, Jefferies JL, Hopkin RJ, Mays WA, Goa Z, Chin C. Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease. Am J Med Genet Pt A. 2018;176(9):1852\u201357. https:\/\/doi.org\/10.1002\/ajmg.a.40369.","journal-title":"Am J Med Genet Pt A"},{"issue":"1","key":"4485_CR72","doi-asserted-by":"publisher","first-page":"8","DOI":"10.5049\/EBP.2023.21.1.8","volume":"21","author":"SH Kim","year":"2023","unstructured":"Kim SH, Choi SJ. Management of hypertension in Fabry disease. Electrolyte Blood Press. 2023;21(1):8\u201317. https:\/\/doi.org\/10.5049\/EBP.2023.21.1.8.","journal-title":"Electrolyte Blood Press"},{"issue":"4","key":"4485_CR73","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1159\/000520699","volume":"146","author":"MT Dincer","year":"2022","unstructured":"Dincer MT, Ozcan SG, Ikitimur B, Kiykim E, Bakir A, Trabulus S, et al. Blood pressure variability in Fabry disease patients. Nephron. 2022;146(4):343\u201350. https:\/\/doi.org\/10.1159\/000520699.","journal-title":"Nephron"},{"issue":"2","key":"4485_CR74","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1007\/s10741-023-10370-x","volume":"29","author":"A Del Franco","year":"2023","unstructured":"Del Franco A, Iannaccone G, Meucci MC, Lillo R, Cappelli F, Zocchi C, et al. Clinical staging of Anderson-Fabry cardiomyopathy: an operative proposal. Heart Fail Rev. 2023;29(2):431\u201344. https:\/\/doi.org\/10.1007\/s10741-023-10370-x.","journal-title":"Heart Fail Rev"},{"issue":"15","key":"4485_CR75","doi-asserted-by":"publisher","first-page":"1524","DOI":"10.1016\/j.jacc.2023.07.026","volume":"82","author":"MC Meucci","year":"2023","unstructured":"Meucci MC, Lillo R, Del Franco A, Monda E, Iannaccone G, Baldassarre R, et al. Prognostic implications of the extent of cardiac damage in patients with Fabry disease. J Am Coll Cardiol. 2023;82(15):1524\u201334. https:\/\/doi.org\/10.1016\/j.jacc.2023.07.026.","journal-title":"J Am Coll Cardiol"},{"key":"4485_CR76","doi-asserted-by":"publisher","unstructured":"Lillo R, Meucci MC, Del Franco A, Monda E, Iannaccone G, Ditaranto R, et al. Evolution of cardiac damage staged with echocardiography in Fabry disease. JAHA. 2025;14(11):e041627. https:\/\/doi.org\/10.1161\/JAHA.124.041627.","DOI":"10.1161\/JAHA.124.041627"},{"issue":"5","key":"4485_CR77","doi-asserted-by":"publisher","first-page":"739","DOI":"10.1093\/ckj\/sfw082","volume":"9","author":"R Mignani","year":"2016","unstructured":"Mignani R, Pieruzzi F, Berri F, Burlina A, Chinea B, Gallieni M, et al. Fabry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease. Clin Kidney J. 2016;9(5):739\u201347. https:\/\/doi.org\/10.1093\/ckj\/sfw082.","journal-title":"Clin Kidney J"},{"issue":"9","key":"4485_CR78","doi-asserted-by":"publisher","first-page":"1643","DOI":"10.1515\/cclm-2023-0051","volume":"61","author":"M Lundgren","year":"2023","unstructured":"Lundgren M, Ridefelt P, Karlsson M, Norling A, Larsson A. Interlaboratory variation for NT-proBNP among Swedish laboratories in an external quality program 2011\u20132021. Clin Chem Lab Med (CCLM). 2023;61(9):1643\u201351. https:\/\/doi.org\/10.1515\/cclm-2023-0051.","journal-title":"Clin Chem Lab Med (CCLM)"},{"issue":"1","key":"4485_CR79","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1093\/ndt\/gfad164","volume":"39","author":"A Pisani","year":"2023","unstructured":"Pisani A, Pieruzzi F, Cirami CL, Riccio E, Mignani R. Interpretation of GFR slope in untreated and treated adult Fabry patients. Nephrol Dial Transpl. 2023;39(1):18\u201325. https:\/\/doi.org\/10.1093\/ndt\/gfad164.","journal-title":"Nephrol Dial Transpl"},{"key":"4485_CR80","doi-asserted-by":"publisher","unstructured":"Hughes DA, Aguiar P, Deegan PB, Ezgu F, Frustaci A, Lidove O, et al. Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. BMJ Open. 2020;10(10):e035182. https:\/\/doi.org\/10.1136\/bmjopen-2019-035182.","DOI":"10.1136\/bmjopen-2019-035182"},{"key":"4485_CR81","unstructured":"US Food and Drug Administration. Table of surrogate endpoints that were the basis of drug approval or licensure. 2022. 2024 July 14. https:\/\/www.fda.gov\/drugs\/development-resources\/table-surrogate-endpoints-were-basis-drug-approval-or-licensure."},{"issue":"1","key":"4485_CR82","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.humpath.2012.04.023","volume":"44","author":"A Frustaci","year":"2013","unstructured":"Frustaci A, Russo MA, Chimenti C. Diagnostic contribution of left ventricular endomyocardial biopsy in patients with clinical phenotype of hypertrophic cardiomyopathy. Hum Pathol. 2013;44(1):133\u201341. https:\/\/doi.org\/10.1016\/j.humpath.2012.04.023.","journal-title":"Hum Pathol"},{"issue":"12","key":"4485_CR83","doi-asserted-by":"publisher","first-page":"1505","DOI":"10.1016\/j.echo.2019.08.015","volume":"32","author":"KV Bunting","year":"2019","unstructured":"Bunting KV, Steeds RP, Slater K, Rogers JK, Gkoutos GV, Kotecha D. A practical guide to assess the reproducibility of echocardiographic measurements. J Am Soc Echocardiogr. 2019;32(12):1505\u201315. https:\/\/doi.org\/10.1016\/j.echo.2019.08.015.","journal-title":"J Am Soc Echocardiogr"},{"issue":"12","key":"4485_CR84","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1136\/heartjnl-2023-323783","volume":"110","author":"E Monda","year":"2024","unstructured":"Monda E, Bakalakos A, Lachmann R, Syrris P, Limongelli G, Murphy E, et al. Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease. Heart. 2024;110(12):846\u201353. https:\/\/doi.org\/10.1136\/heartjnl-2023-323783.","journal-title":"Heart"},{"issue":"1","key":"4485_CR85","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1186\/s13023-024-03090-4","volume":"19","author":"L Berry","year":"2024","unstructured":"Berry L, Walter J, Johnson J, Alton J, Powers J, Ll\u00f2ria X, et al. Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents. Orphanet J Rare Dis. 2024;19(1):153. https:\/\/doi.org\/10.1186\/s13023-024-03090-4.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"4485_CR86","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1136\/hrt.2006.104026","volume":"94","author":"DA Hughes","year":"2008","unstructured":"Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J, et al. Effects of enzyme replacement therapy on the cardiomyopathy of Anderson\u2013Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart. 2008;94(2):153\u201358. https:\/\/doi.org\/10.1136\/hrt.2006.104026.","journal-title":"Heart"},{"issue":"11","key":"4485_CR87","doi-asserted-by":"publisher","first-page":"1299","DOI":"10.1161\/01.CIR.0000091253.71282.04","volume":"108","author":"F Weidemann","year":"2003","unstructured":"Weidemann F, Breunig F, Beer M, Sandstede J, Turschner O, Voelker W, et al. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study. Circulation. 2003;108(11):1299\u2013301. https:\/\/doi.org\/10.1161\/01.CIR.0000091253.71282.04.","journal-title":"Circulation"},{"issue":"4","key":"4485_CR88","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1161\/CIRCULATIONAHA.108.794529","volume":"119","author":"F Weidemann","year":"2009","unstructured":"Weidemann F, Niemann M, Breunig F, et al. Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009;119(4):524\u201329. https:\/\/doi.org\/10.1161\/CIRCULATIONAHA.108.794529.","journal-title":"Circulation"},{"issue":"5","key":"4485_CR89","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1136\/jmedgenet-2017-104863","volume":"55","author":"M Arends","year":"2018","unstructured":"Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, et al. Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study. J Med Genet. 2018;55(5):351\u201358. https:\/\/doi.org\/10.1136\/jmedgenet-2017-104863.","journal-title":"J Med Genet"},{"key":"4485_CR90","doi-asserted-by":"publisher","first-page":"3705","DOI":"10.2147\/DDDT.S207856","volume":"13","author":"U Ramaswami","year":"2019","unstructured":"Ramaswami U, Beck M, Hughes D, Kampmann C, Botha J, Pintos-Morell G, et al. Cardio- renal outcomes with long- term agalsidase alfa enzyme replacement therapy: a 10- year Fabry outcome survey (FOS) analysis. DDDT. 2019, 13: 3705\u201315. https:\/\/doi.org\/10.2147\/DDDT.S207856.","journal-title":"DDDT"},{"issue":"1","key":"4485_CR91","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1186\/s13023-023-02937-6","volume":"18","author":"A Linhart","year":"2023","unstructured":"Linhart A, Dostalova G, Nicholls K, West ML, T\u00f8ndel C, Jovanovic A, et al. Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study. Orphanet J Rare Dis. 2023;18(1):332. https:\/\/doi.org\/10.1186\/s13023-023-02937-6.","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"4485_CR92","doi-asserted-by":"publisher","first-page":"1224","DOI":"10.1002\/cpt.1321","volume":"105","author":"J Muntze","year":"2019","unstructured":"Muntze J, Gensler D, Maniuc O, Liu D, Cairns T, Oder D, et al. Oral chaperone therapy migalastat for treating Fabry disease: enzymatic response and serum biomarker changes after 1 year. Clin Pharma Ther. 2019;105(5):1224\u201333. https:\/\/doi.org\/10.1002\/cpt.1321.","journal-title":"Clin Pharma Ther"},{"issue":"3","key":"4485_CR93","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1093\/ehjcvp\/pvab025","volume":"8","author":"M Lenders","year":"2022","unstructured":"Lenders M, Nordbeck P, Kurschat C, Eveslage M, Karabul N, Kaufeld J, et al. Treatment of Fabry disease management with migalastat\u2014outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur Heart J - Cardiovasc Pharmacother. 2022;8(3):272\u201381. https:\/\/doi.org\/10.1093\/ehjcvp\/pvab025.","journal-title":"Eur Heart J - Cardiovasc Pharmacother"},{"issue":"9","key":"4485_CR94","doi-asserted-by":"publisher","first-page":"850","DOI":"10.1136\/jmg-2022-108768","volume":"60","author":"A Camporeale","year":"2023","unstructured":"Camporeale A, Bandera F, Pieroni M, Pieruzzi F, Spada M, Bersano A, et al. Effect of migalastat on cArdiac InvOlvement in FabRry DiseAse: MAIORA study. J Med Genet. 2023;60(9):850\u201358. https:\/\/doi.org\/10.1136\/jmg-2022-108768.","journal-title":"J Med Genet"},{"issue":"7","key":"4485_CR95","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1007\/s00259-015-3036-3","volume":"42","author":"C Nappi","year":"2015","unstructured":"Nappi C, Altiero M, Imbriaco M, Nicolai E, Giudice CA, Aiello M, et al. First experience of simultaneous PET\/MRI for the early detection of cardiac involvement in patients with Anderson-Fabry disease. Eur J Nucl Med Mol Imag. 2015;42(7):1025\u201331. https:\/\/doi.org\/10.1007\/s00259-015-3036-3.","journal-title":"Eur J Nucl Med Mol Imag"},{"key":"4485_CR96","doi-asserted-by":"publisher","first-page":"101863","DOI":"10.1016\/j.jaccas.2023.101863","volume":"15","author":"C Orsborne","year":"2023","unstructured":"Orsborne C, Anton-Rodrigez JM, Sherratt N, Watkins A, Lohezic M, Clark D, et al. Inflammatory Fabry cardiomyopathy demonstrated using simultaneous [18F]-FDG PET-CMR. JACC: Case Rep. 2023;15:101863. https:\/\/doi.org\/10.1016\/j.jaccas.2023.101863.","journal-title":"JACC: Case Rep"},{"key":"4485_CR97","doi-asserted-by":"publisher","first-page":"1323214","DOI":"10.3389\/fcvm.2023.1323214","volume":"10","author":"A Roy","year":"2023","unstructured":"Roy A, Vijapurapu R, Kurdi H, Orsborne C, Woolfson P, Kalla M, et al. Clinical utilisation of implantable loop recorders in adults with Fabry disease\u2014a multi-centre snapshot study. Front Cardiovasc Med. 2023;10:1323214. https:\/\/doi.org\/10.3389\/fcvm.2023.1323214.","journal-title":"Front Cardiovasc Med"},{"issue":"1","key":"4485_CR98","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1186\/s13063-019-3425-1","volume":"20","author":"R Vijapurapu","year":"2019","unstructured":"Vijapurapu R, Kozor R, Hughes DA, Woolfson P, Jovanovic A, Deegan P, et al. A randomised controlled trial evaluating arrhythmia burden, risk of sudden cardiac death and stroke in patients with Fabry disease: the role of implantable loop recorders (RaIlroad) compared with current standard practice. Trials. 2019;20(1):314. https:\/\/doi.org\/10.1186\/s13063-019-3425-1.","journal-title":"Trials"},{"key":"4485_CR99","doi-asserted-by":"publisher","first-page":"6114826","DOI":"10.1155\/2024\/6114826","volume":"2024","author":"WW Chen","year":"2024","unstructured":"Chen WW, Kuo L, Lin YX, Yu W-C, Tseng C-C, Lin Y-J, et al. A deep learning approach to classify Fabry cardiomyopathy from hypertrophic cardiomyopathy using cine imaging on cardiac magnetic resonance. Int J Biomed Imag. 2024;2024:6114826. https:\/\/doi.org\/10.1155\/2024\/6114826.","journal-title":"Int J Biomed Imag"},{"key":"4485_CR100","doi-asserted-by":"crossref","unstructured":"Monte MA, Veroux M, Rodolico MS, et al. Fabry\u2019s disease: the utility of a multidisciplinary screening approach. In: Life. Vol. 12. Basel, Switzerland; 2022. p. 623.","DOI":"10.3390\/life12050623"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04485-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04485-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04485-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T09:03:55Z","timestamp":1791450235000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s13023-026-04485-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,9]]},"references-count":100,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4485"],"URL":"https:\/\/doi.org\/10.1186\/s13023-026-04485-1","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,9]]},"assertion":[{"value":"5 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"FG: participated in advisory board for Takeda, Amicus, Sanofi, Chiesi; received speaker fees from Takeda, Amicus, Sanofi, received grant from Takeda. EB: participated in advisory boards, received lecture fees from Sanofi-Genzyme, Chiesi, Amicus, Takeda and BMS. RC: has no conflict of interest to declare. GI: participated in advisory boards for Amicus Therapeutics, Sanofi and Chiesi Therapeutics. CL: participated in advisory board for Sanofi; received speaker fees from Takeda, Amicus, Sanofi. IM: participated in advisory boards for Amicus and Sanofi Therapeutics. FP: participated in an advisory board for Sanofi. AA has no conflicts of interest to declare. CZ participated in an advisory board for Sanofi. MP: participated in an advisory board for Sanofi and received advisory board and lecture fees from Sanofi-Genzyme, Chiesi, Amicus, Takeda and BMS.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"344"}}