{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:30:27Z","timestamp":1791304227789,"version":"4.3.1"},"reference-count":106,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heart Failure Clinics"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.hfc.2021.07.005","type":"journal-article","created":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T14:12:50Z","timestamp":1635171170000},"page":"39-49","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":33,"title":["Diagnosis and Management of Cardiovascular Involvement in Fabry Disease"],"prefix":"10.1016","volume":"18","author":[{"given":"Marta","family":"Rubino","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Monda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Lioncino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Caiazza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Palmiero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Dongiglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelaide","family":"Fusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annapaola","family":"Cirillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arturo","family":"Cesaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Capodicasa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marialuisa","family":"Mazzella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Chiosi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Orabona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Bossone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Calabr\u00f2","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Pisani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique P.","family":"Germain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Biagini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maurizio","family":"Pieroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Limongelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.hfc.2021.07.005_bib1","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"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib2","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1161\/CIRCGENETICS.109.862920","article-title":"High incidence of the cardiac variant of fabry disease revealed by newborn screening in the Taiwan Chinese population","volume":"2","author":"Lin","year":"2009","journal-title":"Circ Cardiovasc Genet"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib3","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"},{"issue":"2\u20133","key":"10.1016\/j.hfc.2021.07.005_bib4","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1007\/s10545-006-0265-4","article-title":"Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders","volume":"29","author":"Gelb","year":"2006","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib5","doi-asserted-by":"crossref","first-page":"498","DOI":"10.1016\/j.jpeds.2013.01.031","article-title":"Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry","volume":"163","author":"Scott","year":"2013","journal-title":"J\u00a0Pediatr"},{"issue":"1\u20132","key":"10.1016\/j.hfc.2021.07.005_bib6","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ymgme.2011.07.014","article-title":"The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives","volume":"104","author":"Reuser","year":"2011","journal-title":"Mol Genet Metab"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib7","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/jmg.2009.072116","article-title":"Screening for Fabry disease in high-risk populations: a systematic review","volume":"47","author":"Linthorst","year":"2010","journal-title":"J\u00a0Med Genet"},{"issue":"9","key":"10.1016\/j.hfc.2021.07.005_bib8","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1161\/01.CIR.0000139847.74101.03","article-title":"Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy","volume":"110","author":"Chimenti","year":"2004","journal-title":"Circulation"},{"issue":"12","key":"10.1016\/j.hfc.2021.07.005_bib9","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"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.005_bib10","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1007\/s10545-013-9659-2","article-title":"Prevalence of Fabry disease in male patients with unexplained left ventricular hypertrophy in primary cardiology practice: prospective Fabry cardiomyopathy screening study (FACSS)","volume":"37","author":"Palecek","year":"2014","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"23","key":"10.1016\/j.hfc.2021.07.005_bib11","doi-asserted-by":"crossref","first-page":"1957","DOI":"10.1136\/heartjnl-2011-300364","article-title":"Prevalence of Anderson-Fabry disease in patients with hypertrophic cardiomyopathy: the European Anderson-Fabry Disease survey","volume":"97","author":"Elliott","year":"2011","journal-title":"Heart"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib12","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, 1995-2017","volume":"55","author":"Doheny","year":"2018","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.hfc.2021.07.005_bib13","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1016\/j.ijcard.2019.06.073","article-title":"Prevalence and clinical significance of red flags in patients with hypertrophic cardiomyopathy","volume":"299","author":"Limongelli","year":"2020","journal-title":"Int J Cardiol"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib14","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmedgenet-2014-102797","article-title":"Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease","volume":"52","author":"Germain","year":"2015","journal-title":"J\u00a0Med Genet"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib15","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"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib16","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.ymgme.2007.09.013","article-title":"Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry","volume":"93","author":"Wilcox","year":"2008","journal-title":"Mol Genet Metab"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib17","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1681\/ASN.2016090964","article-title":"Characterization of classical and nonclassical fabry disease: a multicenter study","volume":"28","author":"Arends","year":"2017","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"9","key":"10.1016\/j.hfc.2021.07.005_bib18","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1016\/S0735-1097(02)02380-X","article-title":"Cardiac manifestations of Anderson-Fabry disease in heterozygous females","volume":"40","author":"Kampmann","year":"2002","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"6","key":"10.1016\/j.hfc.2021.07.005_bib19","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/j.amjcard.2014.06.019","article-title":"Relation of burden of myocardial fibrosis to malignant ventricular arrhythmias and outcomes in Fabry disease","volume":"114","author":"Kr\u00e4mer","year":"2014","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.hfc.2021.07.005_bib20","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\u00a0Am Coll Cardiol"},{"issue":"9","key":"10.1016\/j.hfc.2021.07.005_bib21","doi-asserted-by":"crossref","first-page":"1093","DOI":"10.1016\/j.jacc.2010.11.018","article-title":"Cardiovascular events in patients with fabry disease natural history data from the fabry registry","volume":"57","author":"Patel","year":"2011","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"12","key":"10.1016\/j.hfc.2021.07.005_bib22","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"},{"issue":"8","key":"10.1016\/j.hfc.2021.07.005_bib23","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 - Fabry Outcome Survey","volume":"46","author":"Mehta","year":"2009","journal-title":"J\u00a0Med Genet"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib24","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","article-title":"Lysosomal storage diseases [published correction appears in Nat Rev Dis Primers. 2018 Oct 18;4(1):36] [published correction appears in Nat Rev Dis Primers. 2019 May 17;5(1):34]","volume":"4","author":"Platt","year":"2018","journal-title":"Nat Rev Dis Primers"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib25","first-page":"1116","article-title":"Altered sphingolipids metabolism damaged mitochondrial functions: lessons learned from gaucher and fabry diseases","volume":"9","author":"Ivanova","year":"2020","journal-title":"J\u00a0Clin Med"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib26","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"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib27","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1007\/s10897-012-9544-4","article-title":"Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families","volume":"22","author":"Miller","year":"2013","journal-title":"J\u00a0Genet Couns"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib28","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"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib29","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/GIM.0b013e31802d8321","article-title":"Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life","volume":"9","author":"Wang","year":"2007","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib30","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1111\/j.1365-2362.2011.02614.x","article-title":"Interdisciplinary approach towards female patients with Fabry disease","volume":"42","author":"Weidemann","year":"2012","journal-title":"Eur J Clin Invest"},{"issue":"7\u20138","key":"10.1016\/j.hfc.2021.07.005_bib31","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1016\/j.clinbiochem.2014.02.014","article-title":"Fabry disease: a new approach for the screening of females in high-risk groups","volume":"47","author":"Pasqualim","year":"2014","journal-title":"Clin Biochem"},{"key":"10.1016\/j.hfc.2021.07.005_bib32","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.carpath.2018.11.002","article-title":"Lysosomal storage disorders affecting the heart: a review","volume":"39","author":"Nair","year":"2019","journal-title":"Cardiovasc Pathol"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib33","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":"10.1016\/j.hfc.2021.07.005_bib34","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ijcard.2015.04.130","article-title":"Endomyocardial biopsy in Anderson-Fabry disease: the key in uncertain cases","volume":"190","author":"Tsch\u00f6pe","year":"2015","journal-title":"Int J Cardiol"},{"issue":"19","key":"10.1016\/j.hfc.2021.07.005_bib35","doi-asserted-by":"crossref","first-page":"1914","DOI":"10.1016\/j.jacc.2007.09.008","volume":"50","author":"Cooper","year":"2007","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2459\/JCM.0000000000000589","article-title":"Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications","volume":"19","author":"Girolami","year":"2018","journal-title":"J\u00a0Cardiovasc Med (Hagerstown)"},{"key":"10.1016\/j.hfc.2021.07.005_bib37","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"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.005_bib38","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.ijcard.2008.03.007","article-title":"Onset and progression of the Anderson-Fabry disease related cardiomyopathy","volume":"130","author":"Kampmann","year":"2008","journal-title":"Int J Cardiol"},{"key":"10.1016\/j.hfc.2021.07.005_bib39","first-page":"53","article-title":"Early cardiac changes in children with Anderson-Fabry disease","volume":"11","author":"Havranek","year":"2013","journal-title":"JIMD Rep"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib40","doi-asserted-by":"crossref","first-page":"e0124987","DOI":"10.1371\/journal.pone.0124987","article-title":"Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial","volume":"10","author":"Wijburg","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.hfc.2021.07.005_bib41","doi-asserted-by":"crossref","first-page":"632293","DOI":"10.3389\/fped.2021.632293","article-title":"Hypertrophic cardiomyopathy in children: pathophysiology, diagnosis, and treatment of non-sarcomeric causes","volume":"9","author":"Monda","year":"2021","journal-title":"Front Pediatr"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib42","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.hfc.2021.01.003","article-title":"Combined effect of mediterranean diet and aerobic exercise on weight loss and clinical status in obese symptomatic patients with hypertrophic cardiomyopathy","volume":"17","author":"Limongelli","year":"2021","journal-title":"Heart Fail Clin"},{"issue":"8","key":"10.1016\/j.hfc.2021.07.005_bib43","doi-asserted-by":"crossref","first-page":"947","DOI":"10.3390\/genes11080947","article-title":"Combined PTPN11 and MYBPC3 Gene mutations in an adult patient with noonan syndrome and hypertrophic cardiomyopathy","volume":"11","author":"Caiazza","year":"2020","journal-title":"Genes (Basel)"},{"issue":"17","key":"10.1016\/j.hfc.2021.07.005_bib44","doi-asserted-by":"crossref","first-page":"1906","DOI":"10.1177\/2047487319888596","article-title":"Prevalence and clinical implications of hyperhomocysteinaemia in patients with hypertrophic cardiomyopathy and MTHFR C6777T polymorphism","volume":"27","author":"Esposito","year":"2020","journal-title":"Eur J Prev Cardiol"},{"key":"10.1016\/j.hfc.2021.07.005_bib45","doi-asserted-by":"crossref","unstructured":"Limongelli G, Nunziato M, D\u2019Argenio V, et\u00a0al. Yield and clinical significance of genetic screening in elite and amateur athletes. Eur J Prev Cardiol. 2020 Jul 2:2047487320934265. https:\/\/doi.org\/10.1177\/2047487320934265.","DOI":"10.1177\/2047487320934265"},{"key":"10.1016\/j.hfc.2021.07.005_bib46","doi-asserted-by":"crossref","unstructured":"Monda E, Sarubbi B, Russo MG, et\u00a0al. Unexplained sudden cardiac arrest in children: clinical and genetic characteristics of survivors. Eur J Prev Cardiol. 2020 Jul 26:2047487320940863. https:\/\/doi.org\/10.1177\/2047487320940863.","DOI":"10.1177\/2047487320940863"},{"issue":"18","key":"10.1016\/j.hfc.2021.07.005_bib47","doi-asserted-by":"crossref","first-page":"6462","DOI":"10.3390\/ijms21186462","article-title":"Molecular Basis of Inflammation in the Pathogenesis of Cardiomyopathies","volume":"21","author":"Monda","year":"2020","journal-title":"Int J Mol Sci"},{"issue":"7","key":"10.1016\/j.hfc.2021.07.005_bib48","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"},{"issue":"9","key":"10.1016\/j.hfc.2021.07.005_bib49","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"},{"issue":"23","key":"10.1016\/j.hfc.2021.07.005_bib50","doi-asserted-by":"crossref","first-page":"2554","DOI":"10.1016\/j.jacc.2016.09.943","article-title":"Later onset fabry disease, cardiac damage progress in silence: experience with a highly prevalent mutation","volume":"68","author":"Hsu","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"19","key":"10.1016\/j.hfc.2021.07.005_bib51","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"},{"issue":"39","key":"10.1016\/j.hfc.2021.07.005_bib52","doi-asserted-by":"crossref","first-page":"2733","DOI":"10.1093\/eurheartj\/ehu284","article-title":"2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC)","volume":"35","author":"Authors\/Task Force Members","year":"2014","journal-title":"Eur Heart J"},{"issue":"6","key":"10.1016\/j.hfc.2021.07.005_bib53","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"},{"issue":"12","key":"10.1016\/j.hfc.2021.07.005_bib54","doi-asserted-by":"crossref","first-page":"1781","DOI":"10.1093\/europace\/eur267","article-title":"Incidence and predictors of anti-bradycardia pacing in patients with Anderson-Fabry disease","volume":"13","author":"O'Mahony","year":"2011","journal-title":"Europace"},{"key":"10.1016\/j.hfc.2021.07.005_bib55","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"},{"issue":"40","key":"10.1016\/j.hfc.2021.07.005_bib56","doi-asserted-by":"crossref","first-page":"e4996","DOI":"10.1097\/MD.0000000000004996","article-title":"Cardiac device implantation in Fabry disease: a retrospective monocentric study","volume":"95","author":"Sen\u00e9","year":"2016","journal-title":"Medicine (Baltimore)"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib57","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1016\/j.ultrasmedbio.2010.10.017","article-title":"Prominent papillary muscles in Fabry disease: a diagnostic marker?","volume":"37","author":"Niemann","year":"2011","journal-title":"Ultrasound Med Biol"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.005_bib58","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1016\/j.echo.2016.11.014","article-title":"Right ventricular hypertrophy, systolic function, and disease severity in anderson-fabry disease: an echocardiographic study","volume":"30","author":"Graziani","year":"2017","journal-title":"J\u00a0Am Soc Echocardiogr"},{"issue":"10","key":"10.1016\/j.hfc.2021.07.005_bib59","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1093\/ejechocard\/jer112","article-title":"The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy","volume":"12","author":"Mundigler","year":"2011","journal-title":"Eur J Echocardiogr"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib60","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1093\/ehjci\/jey108","article-title":"Prominent longitudinal strain reduction of left ventricular basal segments in treatment-na\u00efve Anderson-Fabry disease patients","volume":"20","author":"Esposito","year":"2019","journal-title":"Eur Heart J Cardiovasc Imaging"},{"issue":"12","key":"10.1016\/j.hfc.2021.07.005_bib61","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1016\/j.echo.2013.09.005","article-title":"Systolic and diastolic function assessment in fabry disease patients using speckle-tracking imaging and comparison with conventional echocardiographic measurements","volume":"26","author":"Shanks","year":"2013","journal-title":"J\u00a0Am Soc Echocardiogr"},{"issue":"6","key":"10.1016\/j.hfc.2021.07.005_bib62","doi-asserted-by":"crossref","first-page":"470","DOI":"10.1136\/heartjnl-2018-313699","article-title":"Global longitudinal strain, myocardial storage and hypertrophy in Fabry disease","volume":"105","author":"Vijapurapu","year":"2019","journal-title":"Heart"},{"key":"10.1016\/j.hfc.2021.07.005_bib63","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1136\/heart.89.8.929","article-title":"Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy?","volume":"89","author":"Ommen","year":"2003","journal-title":"Heart"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib64","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1056\/NEJM199508033330504","article-title":"An atypical variant of Fabry's disease in men with left ventricular hypertrophy","volume":"333","author":"Nakao","year":"1995","journal-title":"N\u00a0Engl J Med"},{"issue":"12","key":"10.1016\/j.hfc.2021.07.005_bib65","first-page":"1313","article-title":"Multimodality imaging in Fabry cardiomyopathy: from early diagnosis to therapeutic targets","volume":"19","author":"Militaru","year":"2018","journal-title":"Eur Heart J Cardiovasc Imaging"},{"issue":"FI2","key":"10.1016\/j.hfc.2021.07.005_bib66","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"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib67","doi-asserted-by":"crossref","first-page":"298","DOI":"10.1136\/heartjnl-2015-308494","article-title":"Cardiac involvement in genotype-positive Fabry disease patients assessed by cardiovascular MR","volume":"102","author":"Kozor","year":"2016","journal-title":"Heart"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib68","doi-asserted-by":"crossref","first-page":"e008424","DOI":"10.1161\/CIRCIMAGING.118.008424","article-title":"Predictors of clinical evolution in prehypertrophic fabry disease","volume":"12","author":"Camporeale","year":"2019","journal-title":"Circ Cardiovasc Imaging"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib69","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/s12968-016-0308-4","article-title":"Cardiac T1 Mapping and Extracellular Volume (ECV) in clinical practice: a comprehensive review","volume":"18","author":"Haaf","year":"2016","journal-title":"J\u00a0Cardiovasc Magn Reson"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib70","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\u00a0Cardiovasc Magn Reson"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib71","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1161\/CIRCIMAGING.113.000482","article-title":"T\u2081 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":"10.1016\/j.hfc.2021.07.005_bib72","doi-asserted-by":"crossref","first-page":"1707","DOI":"10.1016\/j.jacc.2016.07.741","article-title":"Cardiac Fabry disease with late gadolinium enhancement is a chronic inflammatory cardiomyopathy","volume":"68","author":"Nordin","year":"2016","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"7","key":"10.1016\/j.hfc.2021.07.005_bib73","doi-asserted-by":"crossref","first-page":"e008872","DOI":"10.1161\/CIRCIMAGING.119.008872","article-title":"Quantitative myocardial perfusion in fabry disease","volume":"12","author":"Knott","year":"2019","journal-title":"Circ Cardiovasc Imaging"},{"issue":"9","key":"10.1016\/j.hfc.2021.07.005_bib74","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 [published correction appears in","volume":"5","author":"Seydelmann","year":"2016","journal-title":"J\u00a0Am Heart Assoc"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib75","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"},{"issue":"8 Pt 2","key":"10.1016\/j.hfc.2021.07.005_bib76","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":"10.1016\/j.hfc.2021.07.005_bib77","doi-asserted-by":"crossref","first-page":"1530","DOI":"10.2174\/0929867324666170616102112","article-title":"Biomarkers for Diagnosing and Staging of Fabry Disease","volume":"25","author":"Kramer","year":"2018","journal-title":"Curr Med Chem"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib78","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.ymgme.2014.01.014","article-title":"Outcomes of patients treated through the Canadian Fabry disease initiative","volume":"111","author":"Sirrs","year":"2014","journal-title":"Mol Genet Metab"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib79","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1093\/eurheartj\/ehz486","article-title":"2019 ESC guidelines on diabetes, pre-diabetes, and cardiovascular diseases developed in collaboration with the EASD [published correction appears in Eur Heart J. 2020 Dec 1;41(45):4317]","volume":"41","author":"Cosentino","year":"2020","journal-title":"Eur Heart J"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib80","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1093\/eurheartj\/ehz455","article-title":"2019 ESC\/EAS guidelines for the management of dyslipidaemias: lipid modification to reduce cardiovascular risk [published correction appears in Eur Heart J. 2020 Nov 21;41(44):4255]","volume":"41","author":"Mach","year":"2020","journal-title":"Eur Heart J"},{"issue":"33","key":"10.1016\/j.hfc.2021.07.005_bib81","doi-asserted-by":"crossref","first-page":"3021","DOI":"10.1093\/eurheartj\/ehy339","article-title":"2018 ESC\/ESH guidelines for the management of arterial hypertension [published correction appears in Eur Heart J. 2019 Feb 1;40(5):475]","volume":"39","author":"Williams","year":"2018","journal-title":"Eur Heart J"},{"issue":"29","key":"10.1016\/j.hfc.2021.07.005_bib82","doi-asserted-by":"crossref","first-page":"2315","DOI":"10.1093\/eurheartj\/ehw106","volume":"37","author":"Piepoli","year":"2016","journal-title":"Eur Heart J"},{"issue":"11","key":"10.1016\/j.hfc.2021.07.005_bib83","doi-asserted-by":"crossref","first-page":"e0140627","DOI":"10.1371\/journal.pone.0140627","article-title":"Left ventricular geometry and blood pressure as predictors of adverse progression of fabry cardiomyopathy","volume":"10","author":"Kr\u00e4mer","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.hfc.2021.07.005_bib84","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1016\/j.ccep.2015.03.014","article-title":"Arrhythmias in Fabry cardiomyopathy","volume":"7","author":"Acharya","year":"2015","journal-title":"Card Electrophysiol Clin"},{"issue":"29","key":"10.1016\/j.hfc.2021.07.005_bib85","doi-asserted-by":"crossref","first-page":"2281","DOI":"10.1093\/eurheartj\/eht150","volume":"34","author":"Brignole","year":"2013","journal-title":"Eur Heart J"},{"key":"10.1016\/j.hfc.2021.07.005_bib86","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1016\/j.ijcard.2015.01.001","article-title":"A\u00a0patient with recurrent disabling atrial fibrillation and Fabry cardiomyopathy successfully treated with single ring pulmonary vein isolation","volume":"182","author":"Qian","year":"2015","journal-title":"Int J Cardiol"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib87","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\u00a0Intern Med"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib88","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\u00a0Med Genet"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.005_bib89","doi-asserted-by":"crossref","first-page":"e0173358","DOI":"10.1371\/journal.pone.0173358","article-title":"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","volume":"12","author":"El Dib","year":"2017","journal-title":"PLoS One"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib90","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1681\/ASN.2012030316","article-title":"Agalsidase benefits renal histology in young patients with Fabry disease","volume":"24","author":"T\u00f8ndel","year":"2013","journal-title":"J\u00a0Am Soc Nephrol"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib91","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.ymgme.2017.05.001","article-title":"Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease","volume":"121","author":"Arends","year":"2017","journal-title":"Mol Genet Metab"},{"issue":"12","key":"10.1016\/j.hfc.2021.07.005_bib92","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"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.005_bib93","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's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N\u00a0Engl J Med"},{"issue":"19","key":"10.1016\/j.hfc.2021.07.005_bib94","doi-asserted-by":"crossref","first-page":"2561","DOI":"10.1161\/CIRCULATIONAHA.108.841494","article-title":"Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy","volume":"119","author":"Thurberg","year":"2009","journal-title":"Circulation"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.005_bib95","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1136\/hrt.2006.104026","article-title":"Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa","volume":"94","author":"Hughes","year":"2008","journal-title":"Heart"},{"issue":"10","key":"10.1016\/j.hfc.2021.07.005_bib96","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1016\/j.amjcard.2005.11.087","article-title":"Impact of enzyme replacement therapy on cardiac morphology and function and late enhancement in Fabry's cardiomyopathy","volume":"97","author":"Beer","year":"2006","journal-title":"Am J Cardiol"},{"issue":"11","key":"10.1016\/j.hfc.2021.07.005_bib97","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1097\/GIM.0b013e3181f13b75","article-title":"Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature","volume":"12","author":"Lidove","year":"2010","journal-title":"Genet Med"},{"issue":"7","key":"10.1016\/j.hfc.2021.07.005_bib98","doi-asserted-by":"crossref","first-page":"1138","DOI":"10.1038\/mt.2015.62","article-title":"Pharmacological chaperone therapy: preclinical development, clinical translation, and prospects for the treatment of lysosomal storage disorders","volume":"23","author":"Parenti","year":"2015","journal-title":"Mol Ther"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.005_bib99","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1007\/s10545-009-1077-0","article-title":"The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines","volume":"32","author":"Benjamin","year":"2009","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.005_bib100","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 [published correction appears in J Med Genet. 2018 Apr 16;:]","volume":"54","author":"Hughes","year":"2017","journal-title":"J\u00a0Med Genet"},{"issue":"6","key":"10.1016\/j.hfc.2021.07.005_bib101","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1056\/NEJMoa1510198","article-title":"Treatment of fabry's disease with the pharmacologic chaperone migalastat","volume":"375","author":"Germain","year":"2016","journal-title":"N\u00a0Engl J Med"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.005_bib102","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1002\/emmm.200900036","article-title":"Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics","volume":"1","author":"Parenti","year":"2009","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.hfc.2021.07.005_bib103","doi-asserted-by":"crossref","first-page":"448","DOI":"10.3389\/fphar.2017.00448","article-title":"Pharmaceutical chaperones and proteostasis regulators in the therapy of lysosomal storage disorders: current perspective and future promises","volume":"8","author":"Mohamed","year":"2017","journal-title":"Front Pharmacol"},{"key":"10.1016\/j.hfc.2021.07.005_bib104","doi-asserted-by":"crossref","unstructured":"Lenders M, Nordbeck P, Kurschat C, et al. Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS). Eur Heart J Cardiovasc Pharmacother. 2021 Mar 16:pvab025. https:\/\/doi.org\/10.1093\/ehjcvp\/pvab025.","DOI":"10.1093\/ehjcvp\/pvab025"},{"key":"10.1016\/j.hfc.2021.07.005_bib105","doi-asserted-by":"crossref","first-page":"e0182379","DOI":"10.1371\/journal.pone.0182379","article-title":"Retrospective study of longterm outcomes of enzyme replacement therapy in Fabry disease: analysis of prognostic factors","volume":"12","author":"Arends","year":"2017","journal-title":"PLoS ONE"},{"key":"10.1016\/j.hfc.2021.07.005_bib106","doi-asserted-by":"crossref","first-page":"e000277","DOI":"10.1136\/bmjresp-2018-000277","article-title":"Pulmonary involvement in Fabry disease: effect of plasma globotriaosylsphingosine and time to initiation of enzyme replacement therapy","volume":"5","author":"Franzen","year":"2018","journal-title":"BMJ Open Respir Res"}],"container-title":["Heart Failure Clinics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S155171362100074X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S155171362100074X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T08:41:40Z","timestamp":1761554500000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S155171362100074X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":106,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S155171362100074X"],"URL":"https:\/\/doi.org\/10.1016\/j.hfc.2021.07.005","relation":{},"ISSN":["1551-7136"],"issn-type":[{"value":"1551-7136","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis and Management of Cardiovascular Involvement in Fabry Disease","name":"articletitle","label":"Article Title"},{"value":"Heart Failure Clinics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.hfc.2021.07.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}