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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.
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    How to Use Natriuretic Peptides in Patients with Heart Failure with Non-Reduced Ejection Fraction? A Position Paper from the Heart Failure Working Group of Turkish Society of Cardiology
    (Kare Publ, 2023) Celik, Ahmet; Kilicaslan, Baris; Temizhan, Ahmet; Guvenc, Tolga Sinan; Altay, Hakan; Cavusoglu, Yuksel; Yilmaz, Mehmet Birhan
    Natriuretic peptides are widely used in all types of heart failure. Previously, we defined heart failure with non-reduced ejection fraction as patients with heart failure symptoms and/or signs and who have left ventricular ejection fraction > 40%.(1) For the diagnosis of heart failure with preserved ejection fraction, the presence of raised natriuretic peptides is one of the major components of the diagnosis, and raised natriuretic peptides make the diagnosis more likely in patients with heart failure with mildly reduced ejection fraction.(2) The majority of the existing studies have described the utility of natriuretic peptides in patients with heart failure with reduced ejection fraction, but there is not enough data on natriuretic peptides in heart failure patients with heart failure with non-reduced ejection fraction. Despite the insufficient information regarding the usage of natriuretic peptides in heart failure with non-reduced ejection fraction, it is obvious that there is an unmet need to guide how to use natriuretic peptides in these patients. The main goal of this article is to discuss the role of natriuretic peptides in diagnosis, prognosis, and guidance of heart failure treatment in patients with heart failure with non-reduced ejection fraction. The present review discusses the role of natriuretic peptides in heart failure with non-reduced ejection fraction focusing on: the characteristics of natriuretic peptides, primary prevention of heart failure, diagnosis of heart failure with non-reduced ejection fraction in different patient characteristics and comorbidities, prognosis of heart failure, monitoring of heart failure treatment and, how to use in worsening heart failure.
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    Thrombolysis in myocardial infarction risk index predicts one-year mortality in patients with heart failure: an analysis of the SELFIE-TR study
    (KARGER, 2022) Güvenç, Rengin Çetin; Güvenç, Tolga Sinan; Ural, Dilek; Cavusoglu, Yuksel; Yilmaz, Mehmet Birhan
    Objective: Predicting outcomes is an essential part of evaluation in patients with heart failure (HF). While there are multiple individual laboratory and imaging variables, as well as risk scores available for this purpose, they are seldom useful during the initial evaluation. In this analysis, we aimed to understand predictive usefulness of Thrombosis in Myocardial Infarction Risk Index (TIMI-RI), a simple index that is calculated at bedside using three commonly available variables, using data from a multicenter HF registry. Subjects and Methods: A total of 728 patients from 23 centers were included to this analysis. Data on hospitalizations and mortality were collected by direct interviews, phone calls and electronic databases. TIMI-RI was calculated as defined before. Patients were divided into three equal tertiles to perform analyses. Results: Rehospitalization for HF was significantly higher in patients within the 3rd tertile, and 33.5% of patients within the 3rd tertile were dead within one-year follow up as compared to 14.5% of patients within the 1st tertile and 15.6% patients within the 2nd tertile (p<0.001, log-rank p<0.001 for pairwise comparisons on survival analysis). A TIMI-RI higher than 33 had a negative predictive value of 84.8% and a positive predictive value of 33.8% for prediction of one-year mortality. This predictive usefulness was independent of other demographic, examination and clinical variables (OR:1.74, 95%CI:1.05-2.86, p=0.036). Conclusion: TIMI-RI is a simple index that predicts one-year mortality in patients with HF, and it could be useful for rapid evaluation and triage of HF patients at the time of initial contact.
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    Usefulness of Age, Creatinine and Ejection Fraction- Modification of Diet in Renal Disease Score for Predicting Survival in Patients with Heart Failure
    (Arquivos Brasileiros Cardiologia, 2023) Guvenc, Rengin Cetin; Guvenc, Tolga Sinan; Cavusoglu, Yuksel; Temizhan, Ahmet; Yilmaz, Mehmet Birhan
    Background: While many risk models have been developed to predict prognosis in heart failure (HF), these models are rarely useful for the clinical practitioner as they include multiple variables that might be time-consuming to obtain, they are usually difficult to calculate, and they may suffer from statistical overfitting.Objectives: To investigate whether a simpler model, namely the ACEF-MDRD score, could be used for predicting one-year mortality in HF patients.Methods: 748 cases within the SELFIE-HF registry had complete data to calculate the ACEF-MDRD score. Patients were grouped into tertiles for analyses. For all tests, a p-value <0.05 was accepted as significant.Results: Significantly more patients within the ACEF-MDRD (high) tertile (30.0%) died within one year, as compared to other tertiles (10.8% and 16.1%, respectively, for ACEF-MDRD (low) and ACEF-MDRD (med) , p<0.001 for both comparisons). There was a stepwise decrease in one-year survival as the ACEF-MDRD score increased (log-rank p<0.001). ACEF-MDRD was an independent predictor of survival after adjusting for other variables (OR: 1.14, 95%CI:1.04 - 1.24, p=0.006). ACEF-MDRD score offered similar accuracy to the GWTG-HF score for predicting one-year mortality (p=0.14).Conclusions: ACEF-MDRD is a predictor of mortality in patients with HF, and its usefulness is comparable to similar yet more complicated models.