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

Basit Öğe Kaydı
dc.authorid0000-0003-0205-1138
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.authorGök, Gülay
dc.contributor.authorKolak, Zeynep
dc.contributor.authorErgene, Asım Oktay
dc.date.accessioned2024-02-15T12:52:32Z
dc.date.available2024-02-15T12:52:32Z
dc.date.issued2023
dc.departmentİstanbul Medipol Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Kardiyoloji Ana Bilim Dalı
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 ?-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 ?-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.
dc.identifier.citationGüzel, T., Turhan Çağlar, F. N., 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). International Journal of Cardiovascular Imaging, 39(6), 1143-1155. https://dx.doi.org/10.1007/s10554-023-02826-w
dc.identifier.doi10.1007/s10554-023-02826-w
dc.identifier.endpage1155
dc.identifier.issn1569-5794
dc.identifier.issn1875-8312
dc.identifier.issue6
dc.identifier.pmid36920623
dc.identifier.scopus2-s2.0-85149917167
dc.identifier.scopusqualityQ2
dc.identifier.startpage1143
dc.identifier.urihttps://dx.doi.org/10.1007/s10554-023-02826-w
dc.identifier.urihttps://hdl.handle.net/20.500.12511/12281
dc.identifier.volume39
dc.identifier.wos000949092000001en_US
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorGök, Gülay
dc.language.isoen
dc.publisherSpringer
dc.relation.ispartofInternational Journal of Cardiovascular Imagingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/embargoedAccess
dc.subjectFabry Disease
dc.subjectLeft Ventricular Hypertrophy
dc.subjectEchocardiography
dc.subjectGLA Gene Mutation
dc.subjecta-Gal a Enzyme Activity
dc.titlePrevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis)
dc.typeArticle

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
Gok-Gulay-2023.pdf
Boyut:
1.81 MB
Biçim:
Adobe Portable Document Format
Açıklama:
Tam Metin / Full Text
İndir
Lisans paketi
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
license.txt
Boyut:
1.44 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

Makale Koleksiyonu
PubMed İndeksli Yayınlar Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu