Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis)

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dc.authorid0000-0002-4478-4324en_US
dc.authorscopusid56819132600en_US
dc.authorwosid-en_US
dc.contributor.authorGüzel, Tuncay
dc.contributor.authorTurhan Çağlar, Fatma Nihan
dc.contributor.authorEkici, Berkay
dc.contributor.authorKış, Mehmet
dc.contributor.authorÖztaş, Selvi
dc.contributor.authorÖz, Ahmet
dc.contributor.authorAkşit, Ercan
dc.date.accessioned2023-09-09T12:42:35Z
dc.date.available2023-09-09T12:42:35Z
dc.date.issued2023en_US
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
dc.description.abstractPurpose: In this prospective study we aimed to determine the rate of Fabry Disease (FD) in patients with left ventricular hypertrophy (LVH), and to evaluate the clinical presentations of patients with FD in a comprehensive manner. In addition, we aimed to raise awareness about this issue by allowing early diagnosis and treatment of FD. Methods: Our study was planned as national, multicenter, observational. Totally 22 different centers participated in this study. A total of 886 patients diagnosed with LVH by echocardiography (ECHO) were included in the study. Demographic data, biochemical parameters, electrocardiography (ECG) findings, ECHO findings, treatments and clinical findings of the patients were recorded. Dry blood samples were sent from male patients with suspected FD. The α-Gal A enzyme level was checked and genetic testing was performed in patients with low enzyme levels. Female patients suspected of FD were genetically tested with the GLA Gene Mutation Analysis. Results: FD was suspected in a total of 143 (16.13%) patients included in the study. The α-Gal-A enzyme level was found to be low in 43 (4.85%) patients whom enzyme testing was requested. GLA gene mutation analysis was positive in 14 (1.58%) patients. Male gender, E/e’ mean ,and severe hypertrophy are important risk factor for FD. Conclusion: In daily cardiology practice, FD should be kept in mind not only in adult patients with unexplained LVH but also in the entire LVH population. Dry blood test (DBS) should be considered in high-risk patients, and mutation analysis should be considered in required patients.en_US
dc.identifier.citationGüzel, T., Çağlar, F. N. T., Ekici, B., Kış, M., Öztaş, S., Öz, A., … Ergene, A. O. (2023). Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis). The International Journal of Cardiovascular Imaging, 39(6), 1143–1155. https://doi.org/10.1007/s10554-023-02826-wen_US
dc.identifier.doi10.1007/s10554-023-02826-w
dc.identifier.endpage1155en_US
dc.identifier.issue6en_US
dc.identifier.pmid36920623
dc.identifier.scopus2-s2.0-85149917167
dc.identifier.startpage1143en_US
dc.identifier.urihttps://doi.org/10.1007/s10554-023-02826-w
dc.identifier.uri1569-5794 / 1875-8312
dc.identifier.urihttps://hdl.handle.net/20.500.12428/4557
dc.identifier.volume39en_US
dc.identifier.wosWOS:000949092000001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAkşit, Ercan
dc.language.isoen
dc.publisherSpringer Science and Business Media B.V.en_US
dc.relation.ispartofInternational Journal of Cardiovascular Imagingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjecta-Gal A enzyme activityen_US
dc.subjectEchocardiographyen_US
dc.subjectFabry Diseaseen_US
dc.subjectGLA gene mutationen_US
dc.subjectLeft ventricular hypertrophyen_US
dc.titlePrevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis)
dc.typeArticle

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