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    The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey
    (Kare Publ, 2023) Ozpelit, Ebru; Cavusoglu, Yuksel; Yorgun, Hikmet; Okcun, Emir Ozgur Baris; Akilli, Rabia Eker; Celik, Ahmet; Ermis, Necip
    Background: 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.
  • Yükleniyor...
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    Is there a gender gap in secondary prevention of coronary artery disease in Turkey?
    (Turkish Soc Cardiology, 2018) Kocyigit, Duygu; Tokgozoglu, Lale; Kayikcioglu, Meral; Altay, Servet; Aydogdu, Sinan; Barcin, Cem; Bostan, Cem; Cakmak, Huseyin Altug; Çatakoğlu, Alp Burak; Emet, Samim; Ergene, Oktay; Kalkan, Ali Kemal; Kaya, Baris; Kaya, Cansin; Kaymaz, Cihangir; Koylan, Nevrez; Kultursay, Hakan; Oguz, Aytekin; Ozpelit, Ebru; Unlu, Serkan
    Objective: It has been reported that women receive fewer preventive recommendations regarding pharmacological treatment, lifestyle modifications, and cardiac rehabilitation compared with men who have a similar risk profile. This study was an investigation of the impact of gender on cardiovascular risk profile and secondary prevention measures for coronary artery disease (CAD) in the Turkish population. Methods: Statistical analyses were based on the European Action on Secondary and Primary Prevention through Intervention to Reduce Events (EUROASPIRE)-IV cross-sectional survey data obtained from 17 centers in Turkey. Male and female patients, aged 18 to 80 years, who were hospitalized for a first or recurrent coronary event (coronary artery bypass graft, percutaneous coronary intervention, acute myocardial infarction, or acute myocardial ischemia) were eligible. Results: A total of 88 (19.7%) females and 358 males (80.3%) were included. At the time of the index event, the females were significantly older (p=0.003) and had received less formal education (p<0.001). Non-smoking status (p<0.001) and higher levels of depression and anxiety (both p<0.001) were more common in the female patients. At the time of the interview, conducted between 6 and 36 months after the index event, central obesity (p<0.001) and obesity (p=0.004) were significantly more common in females. LDL-C, HDL-C or HbA1c levels did not differ significantly between genders. The fasting blood glucose level was significantly higher (p=0.003) and hypertension was more common in females (p=0.001). There was no significant difference in an increase in physical activity or weight loss after the index event between genders, and there was no significant difference between genders regarding continuity of antiplatelet, statin, beta blocker or ACEi/ARB II receptor blocker usage (p>0.05). Conclusion: Achievement of ideal body weight, fasting blood glucose and blood pressure targets was lower in women despite similar reported medication use. This highlights the importance of the implementation of lifestyle measures and adherence to medications in women.

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