{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:40:06Z","timestamp":1786977606361,"version":"build-2736575974"},"reference-count":5,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2025,11,12]],"date-time":"2025-11-12T00:00:00Z","timestamp":1762905600000},"content-version":"vor","delay-in-days":789,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:00:00Z","timestamp":1694736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP17055"],"award-info":[{"award-number":["GGP17055"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Italian Health Ministry","award":["#2020\/1"],"award-info":[{"award-number":["#2020\/1"]}]},{"DOI":"10.13039\/501100015822","name":"Fondazione Roma","doi-asserted-by":"publisher","award":["#18\/6\/2019"],"award-info":[{"award-number":["#18\/6\/2019"]}],"id":[{"id":"10.13039\/501100015822","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP17055"],"award-info":[{"award-number":["GGP17055"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["#2020\/1"],"award-info":[{"award-number":["#2020\/1"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100015822","name":"Fondazione Roma","doi-asserted-by":"publisher","award":["#18\/6\/2019"],"award-info":[{"award-number":["#18\/6\/2019"]}],"id":[{"id":"10.13039\/501100015822","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Hypertrophic obstructive cardiomyopathy can be the phenotype of storage disorders as Fabry disease cardiomyopathy. In this instance, its recognition through GLA gene analysis and preventive administration of enzyme replacement therapy may reduce heart failure risk of surgical septal myectomy (SSM). A 59-year-old man was referred for SSM as dyspnoea and low threshold muscle fatigue associated to severe left ventricular outflow obstruction (gradient of 100 mmHg) due to both interventricular septal hypertrophy and mitral leaflet systolic anterior motion were not controlled by metoprolol 100 mg bid. Electrocardiogram showed sinus rhythm and a complete left bundle branch block. Cardiac magnetic resonance imaging showed a preserved left ventricular (LV) contractility (ejection fraction 70%) but failed to reveal reduced T1 mapping and fibrosis of postero-lateral LV wall suggesting Fabry disease cardiomyopathy. Cardiac catheterization and coronary angiography documented increased LV end-diastolic pressure but normal coronary arteries. SSM was followed by acute renal and heart failure with left ventricular ejection fraction declining to 35%. Histology of SSM showed regularly arranged severely enlarged cardiomyocytes containing extensive vacuoles that were intensely positive to immunofluorescence with anti-Gb3 antibodies and appeared at electron microscopy to consist of myelin bodies suggesting the diagnosis of FD. This entity was confirmed by low blood levels of alpha-galactosidase A (0.8 nmol\/mL\/h; NV &amp;gt; 1), high values of Lyso-Gb3 (5.85 nmol\/L; NV &amp;lt; 2.3), and the presence of the pathogenic mutation c.644A&amp;gt;G in the exon 5 of GLA gene. This study emphasizes the importance of a genetic screening for FD before SSM be considered for hypertrophic obstructive cardiomyopathy.<\/jats:p>","DOI":"10.1002\/ehf2.14427","type":"journal-article","created":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:53:41Z","timestamp":1694825621000},"page":"3710-3713","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Hypertrophic Obstructive Cardiomyopathy Caused by Fabry Disease: Implications for Surgical Myectomy"],"prefix":"10.1093","volume":"10","author":[{"given":"Andrea","family":"Frustaci","sequence":"first","affiliation":[{"name":"IRCCS San Raffaele Rome , Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentino","family":"Borghetti","sequence":"additional","affiliation":[{"name":"Cardiac Surgery Complex Structure of the \u201cS. Maria\u201d Hospital of Terni , Terni ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuele","family":"Pentiricci","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Hospital Papa Giovanni XXIII , Bergamo ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Romina","family":"Verardo","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Cardiology Lab, IRCCS L. Spallanzani , Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rossella","family":"Scialla","sequence":"additional","affiliation":[{"name":"Cellular and Molecular Cardiology Lab, IRCCS L. Spallanzani , Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo Antonio","family":"Russo","sequence":"additional","affiliation":[{"name":"MEBIC Consortium, San Raffaele Open University and (6) IRCCS San Raffaele Pisana , Rome ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,9,15]]},"reference":[{"key":"2026012113211071200_ehf214427-bib-0001","first-page":"3733","volume-title":"The metabolic and molecular bases of inherited disease","author":"Desnick","year":"2001","edition":"8th ed."},{"key":"2026012113211071200_ehf214427-bib-0002","doi-asserted-by":"crossref","first-page":"1760","DOI":"10.1016\/j.humpath.2015.07.017","article-title":"Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy","volume":"46","author":"Chimenti","year":"2015","journal-title":"Hum Pathol"},{"key":"2026012113211071200_ehf214427-bib-0003","doi-asserted-by":"crossref","DOI":"10.1161\/JAHA.118.009052","article-title":"Immune-mediated myocarditis in Fabry disease cardiomyopathy","volume":"7","author":"Frustaci","year":"2018","journal-title":"J Am Heart Assoc"},{"key":"2026012113211071200_ehf214427-bib-0004","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCIMAGING.116.005078","article-title":"Paradoxical response to enzyme replacement therapy of Fabry disease cardiomyopathy","volume":"9","author":"Frustaci","year":"2016","journal-title":"Circ Cardiovasc Imaging"},{"key":"2026012113211071200_ehf214427-bib-0005","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1056\/NEJM200107053450102","article-title":"International collaborative Fabry disease study group. Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease","volume":"345","author":"Eng","year":"2001","journal-title":"N Engl J Med"}],"container-title":["ESC Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/eschf\/article-pdf\/10\/6\/3710\/64699494\/eschf_10_6_3710.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eschf\/article-pdf\/10\/6\/3710\/64699494\/eschf_10_6_3710.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T18:25:56Z","timestamp":1769019956000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eschf\/article\/10\/6\/3710\/8284391"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,15]]},"references-count":5,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,9,15]]},"published-print":{"date-parts":[[2023,12,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ehf2.14427","relation":{},"ISSN":["2055-5822"],"issn-type":[{"value":"2055-5822","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023,12]]},"published":{"date-parts":[[2023,9,15]]},"assertion":[{"value":"2023-03-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}