The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey

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dc.authoridÇELİK, AHMET/0000-0002-9417-7610;
dc.authorwosidUludağ, Demet Menekşe Gerede/AES-3501-2022
dc.authorwosidÇELİK, AHMET/AAA-6615-2021
dc.authorwosidCavusoglu, Yuksel/JWA-0879-2024
dc.contributor.authorOzpelit, Ebru
dc.contributor.authorCavusoglu, Yuksel
dc.contributor.authorYorgun, Hikmet
dc.contributor.authorOkcun, Emir Ozgur Baris
dc.contributor.authorAkilli, Rabia Eker
dc.contributor.authorCelik, Ahmet
dc.contributor.authorErmis, Necip
dc.date.accessioned2024-08-04T20:10:20Z
dc.date.available2024-08-04T20:10:20Z
dc.date.issued2023
dc.departmentİnönü Üniversitesien_US
dc.description.abstractBackground: The present study aimed to identify the frequency of Fabry disease in patients with cardiac hypertrophy of unknown etiology and to evaluate demographic and clinical characteristics, enzyme activity levels, and genetic mutations at the time of diagnosis.Methods: This national, multicenter, cross-sectional, single-arm, observational registry study was conducted in adult patients with a clinical echocardiographic diagnosis of left ventricular hypertrophy and/or the presence of prominent papillary muscle. In both genders, genetic analysis was performed by DNA Sanger sequence analysis. Results: A total of 406 patients with left ventricular hypertrophy of unknown origin were included. Of the patients, 19.5% had decreased enzyme activity (& LE;2.5 nmol/mL/h). Although genetic analysis revealed GLA (galactosidase alpha) gene mutation in only 2 patients (0.5%), these patients were considered to have probable but not definite Fabry disease due to normal lyso Gb3 levels and gene mutations categorized as variants of unknown significance. Conclusion: The prevalence of Fabry disease varies according to the characteristics of the population screened and the definition of the disease used in these trials. From cardiology perspective, left ventricular hypertrophy is the major reason to consider screening for Fabry disease. Enzyme testing, genetic analysis, substrate analysis, histopathological examination, and family screening should be performed, when necessary, for a definite diagnosis of Fabry disease. The results of this study underline the importance of the comprehensive use of these diagnostic tools to reach a definite diagnosis. The diagnosis and management of Fabry disease should not be based solely on the results of the screening tests.en_US
dc.description.sponsorshipSanofien_US
dc.description.sponsorshipThis study was unconditionally supported by Sanofi.en_US
dc.identifier.doi10.14744/AnatolJCardiol.2022.2503
dc.identifier.endpage228en_US
dc.identifier.issn2149-2263
dc.identifier.issn2149-2271
dc.identifier.issue4en_US
dc.identifier.pmid36995061en_US
dc.identifier.scopus2-s2.0-85151573897en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage223en_US
dc.identifier.trdizinid1175133en_US
dc.identifier.urihttps://doi.org/10.14744/AnatolJCardiol.2022.2503
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/1175133
dc.identifier.urihttps://hdl.handle.net/11616/92706
dc.identifier.volume27en_US
dc.identifier.wosWOS:001068584100012en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKare Publen_US
dc.relation.ispartofAnatolian Journal of Cardiologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFabry diseaseen_US
dc.subjectleft ventricular hypertrophyen_US
dc.subjectpapillary musclesen_US
dc.titleThe Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkeyen_US
dc.typeArticleen_US

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