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

Autor: Güzel T; Department of Cardiology, Health Science University, Gazi Yaşargil Training and Research Hospital, 21070, Diyarbakır, Turkey. drtuncayguzel@gmail.com., Çağlar FNT; Sadi Konuk Training and Research Hospital, Department of Cardiology, Istanbul, Turkey., Ekici B; Faculty of Medicine, Department of Cardiology, Lokman Hekim University, Ankara, Turkey., Kış M; Department of Cardiology, Dokuz Eylul University, Izmir, Turkey., Öztaş S; Department of Cardiology, Bursa City Hospital, Bursa, Turkey., Öz A; Department of Cardiology, Istanbul Training and Research Hospital, Istanbul, Turkey., Gök G; Department of Cardiology, Istanbul Medipol University, Istanbul, Turkey., Kolak Z; Department of Cardiology, Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey., Akşit E; Faculty of Medicine, Department of Cardiology, Canakkale Onsekiz Mart University, Canakkale, Turkey., Sarıca SA; Department of Cardiology, Bayburt State Hospital, Bayburt, Turkey., Bayrak M; Antalya Kepez State Hospital, Department of Cardiology, Antalya, Turkey., Birdal O; Faculty of Medicine, Department of Cardiology, Erzurum Ataturk University, Erzurum, Turkey., Uğuz B; Bursa City Hospital, Department of Cardiology, Bursa, Turkey., Gitmez M; Department of Cardiology, Batman Training and Research Hospital, Batman, Turkey., Berk Gİ; Antalya Atatürk State Hospital, Department of Cardiology, Antalya, Turkey., Oğuz M; Department of Cardiology, Van Training and Research Hospital, Van, Turkey., Çalık AN; Department of Cardiology, Dr. Siyami Ersek Thoracic and Cardiovascular Surgery Training and Research Hospital, Istanbul, Turkey., Kılıç S; Department of Cardiology, Adana City Training and Research Hospital, Adana, Turkey., Zoghi M; Department of Cardiology, Ege University, Izmir, Turkey., Ergene AO; Department of Cardiology, Dokuz Eylul University, Izmir, Turkey.
Jazyk: angličtina
Zdroj: The international journal of cardiovascular imaging [Int J Cardiovasc Imaging] 2023 Jun; Vol. 39 (6), pp. 1143-1155. Date of Electronic Publication: 2023 Mar 15.
DOI: 10.1007/s10554-023-02826-w
Abstrakt: Purpose: 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.
(© 2023. The Author(s), under exclusive licence to Springer Nature B.V.)
Databáze: MEDLINE
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