{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,25]],"date-time":"2025-10-25T12:54:28Z","timestamp":1761396868614,"version":"3.41.2"},"reference-count":13,"publisher":"Oxford University Press (OUP)","issue":"7","license":[{"start":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T00:00:00Z","timestamp":1720396800000},"content-version":"vor","delay-in-days":7,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Cardiac involvement in Fabry disease (FD) usually manifests as a concentric left ventricular hypertrophy with rare cases developing left ventricular outflow tract obstruction (LVOTO), symptoms varying from fatigue and exercise associated dyspnoea to angina or arrhythmias.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>We present the case of a 54-year-old man with cardiovascular risk factors and aggravated exertional dyspnoea in the past year, in whom the echocardiography showed hypertrophic obstructive cardiomyopathy (HOCM). Cardiac magnetic resonance was used as differential diagnosis tool between sarcomeric HOCM and other phenocopies, suggesting a cardiac involvement of FD. Final diagnosis was formulated based on genetic testing and enzymatic activity of \u03b1-galactosidase. Left ventricular outflow tract obstruction was addressed by alcohol septal ablation successfully both in short term as well as at 1-year follow-up.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>The present case illustrates the complex clinical pathway of a patient with HOCM due to FD, where multimodality imaging was instrumental from differential diagnosis to therapeutic choices, which addressed both the pathogenic background and the organ involvement. Although at the moment the number of patients with of FD cardiomyopathy undergoing LVOTO reduction therapies is scarce, current recommendations should be extended to also include these patients.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytae317","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T11:02:04Z","timestamp":1720436524000},"source":"Crossref","is-referenced-by-count":2,"title":["Complex management of Fabry cardiomyopathy: a case report on the use of alcohol septal ablation and chaperone therapy"],"prefix":"10.1093","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1764-3291","authenticated-orcid":false,"given":"Gabriela","family":"Neculae","sequence":"first","affiliation":[{"name":"Carol Davila University of Medicine and Pharmacy, Department 4 - Cardio-thoracic pathology , 37 Dionisie Lupu Street, 020021 Bucharest , Romania"},{"name":"Expert Center for Rare Genetic Cardiovascular Diseases, Department of Cardiology, Emergency Institute for Cardiovascular Disease \u2018Prof Dr C.C.Iliescu\u2019 , 258 Fundeni Street, 022328 Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucian","family":"Predescu","sequence":"additional","affiliation":[{"name":"Carol Davila University of Medicine and Pharmacy, Department 4 - Cardio-thoracic pathology , 37 Dionisie Lupu Street, 020021 Bucharest , Romania"},{"name":"Expert Center for Rare Genetic Cardiovascular Diseases, Department of Cardiology, Emergency Institute for Cardiovascular Disease \u2018Prof Dr C.C.Iliescu\u2019 , 258 Fundeni Street, 022328 Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oana","family":"Popa","sequence":"additional","affiliation":[{"name":"Department of Cardiology, \u2018Agrippa Ionescu\u2019 Emergency Hospital , 7 Arhitect Ion Mincu Street, 011356 Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Rusu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Fundeni Clinical Institute , 258 Fundeni Street, 022328 Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3438-2612","authenticated-orcid":false,"given":"Ruxandra","family":"Jurcut","sequence":"additional","affiliation":[{"name":"Carol Davila University of Medicine and Pharmacy, Department 4 - Cardio-thoracic pathology , 37 Dionisie Lupu Street, 020021 Bucharest , Romania"},{"name":"Expert Center for Rare Genetic Cardiovascular Diseases, Department of Cardiology, Emergency Institute for Cardiovascular Disease \u2018Prof Dr C.C.Iliescu\u2019 , 258 Fundeni Street, 022328 Bucharest , Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,7,8]]},"reference":[{"key":"2024073119521949900_ytae317-B1","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1186\/1750-1172-5-30","article-title":"Fabry disease","volume":"5","author":"Germain","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"2024073119521949900_ytae317-B2","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1111\/j.1365-2362.2004.01309.x","article-title":"Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey","volume":"34","author":"Mehta","year":"2004","journal-title":"Eur J Clin Invest"},{"volume-title":"Fabry disease: perspectives from 5 years of FOS","year":"2006","author":"Sunder-Plassmann","key":"2024073119521949900_ytae317-B3"},{"key":"2024073119521949900_ytae317-B4","first-page":"272","article-title":"Demographic and clinical characteristics of the full 2015\u20132018 cohort of Romanian Fabry disease patients","volume":"45","author":"Militaru","year":"2019","journal-title":"Curr Health Sci J"},{"key":"2024073119521949900_ytae317-B5","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"},{"key":"2024073119521949900_ytae317-B6","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"},{"key":"2024073119521949900_ytae317-B7","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1016\/j.jacc.2020.12.024","article-title":"Cardiac involvement in Fabry disease: JACC review topic of the week","volume":"77","author":"Pieroni","year":"2021","journal-title":"J Am Coll Cardiol"},{"key":"2024073119521949900_ytae317-B8","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":"2024073119521949900_ytae317-B9","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1002\/mgg3.389","article-title":"Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: a multicenter Fabry registry study","volume":"6","author":"Germain","year":"2018","journal-title":"Mol Genet Genomic Med"},{"key":"2024073119521949900_ytae317-B10","doi-asserted-by":"crossref","first-page":"3503","DOI":"10.1093\/eurheartj\/ehad194","article-title":"2023 ESC guidelines for the management of cardiomyopathies","volume":"44","author":"Arbelo","year":"2023","journal-title":"Eur Heart J"},{"key":"2024073119521949900_ytae317-B11","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1016\/j.amjcard.2021.03.042","article-title":"Usefulness of alcohol septal ablation in the left ventricular outflow tract obstruction in Fabry disease cardiomyopathy","volume":"150","author":"Zem anek","year":"2021","journal-title":"Am J Cardiol"},{"key":"2024073119521949900_ytae317-B12","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1002\/ejhf.1960","article-title":"An expert consensus document on the management of cardiovascular manifestations of Fabry disease","volume":"22","author":"Linhart","year":"2020","journal-title":"Eur J Heart Fail"},{"key":"2024073119521949900_ytae317-B13","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1093\/ehjcvp\/pvab025","article-title":"Treatment of Fabry disease management with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)","volume":"8","author":"Lenders","year":"2022","journal-title":"Eur Heart J Cardiovasc Pharmacother"}],"container-title":["European Heart Journal - 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