Alexandr Gurschenkov, Sofiya Andreeva, Vadim Zaitsev, Pavel Khazov, Gleb Ischmukhametov, Alexandra Kozyreva, Polina Sokolnikova, Olga Moiseeva, Anna Kostareva, Mikhail Gordeev
{"title":"Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease.","authors":"Alexandr Gurschenkov, Sofiya Andreeva, Vadim Zaitsev, Pavel Khazov, Gleb Ischmukhametov, Alexandra Kozyreva, Polina Sokolnikova, Olga Moiseeva, Anna Kostareva, Mikhail Gordeev","doi":"10.3390/jcdd11090293","DOIUrl":null,"url":null,"abstract":"<p><p>Anderson-Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality. Here, we report three new cases of obstructive HCM (HOCM) in nonclassical presentations of AFD and isolated cardiac involvement. In all three cases, the diagnosis of AFD was made postoperatively by routine genetic and morphological testing. Together with previously published cases, this report illustrates the potential safety and beneficial effect of septal surgical myectomy in patients with AFD-HOCM, as well as underlines the need for more thorough screening for clinical signs of AFD-associated cardiomyopathy and <i>GLA</i> variants among patients with HOCM.</p>","PeriodicalId":15197,"journal":{"name":"Journal of Cardiovascular Development and Disease","volume":"11 9","pages":""},"PeriodicalIF":2.4000,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11432192/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Cardiovascular Development and Disease","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/jcdd11090293","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
Abstract
Anderson-Fabry disease (AFD) results from decreased enzyme activity of lysosomal enzymes and intralysosomal storage of nonhydrolyzed forms. Cardiovascular complications, mainly in the form of HCM, contribute substantially to AFD patient mortality. Here, we report three new cases of obstructive HCM (HOCM) in nonclassical presentations of AFD and isolated cardiac involvement. In all three cases, the diagnosis of AFD was made postoperatively by routine genetic and morphological testing. Together with previously published cases, this report illustrates the potential safety and beneficial effect of septal surgical myectomy in patients with AFD-HOCM, as well as underlines the need for more thorough screening for clinical signs of AFD-associated cardiomyopathy and GLA variants among patients with HOCM.
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