Browsing by Author "Dalgiç, O"

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    The effect of long-term continuous positive airway pressure treatment on systolic and diastolic function in patients with obstructive sleep apnoea syndrome: A five year observational study
    (TURKISH SOC CARDIOLOGY) Bilge, AR; Yavuz, V; Çetin, N; Dalgiç, O; Kum, G; Yilmaz, H; Tikiz, H
    Objective: Evaluation of the long-term effects of continuous positive airway presure (CPAP) on mean heart rate and left ventricular systolic and diastolic parameters in obstructive sleep apnea syndrome (OSAS) using conventional and tissue Doppler techniques. Methods: This prospective cohort study is designed to evaluate the long-term effects of CPAP treatments in normotensive OSAS patients. Initially 40 patients aged from eighteen to fifty five with documented OSAS syndrome were evaluated within one month of CPAP treatment. All had high self-reported compliance with treatment. From the latter, 21 patients with uninterrupted CPAP therapy (for at least 5 years, 5 hours per day) were included in the study and further evaluated with treatment. The left ventricular systolic function was assessed on apical four-chamber view using modified Simpson method and diastolic function was evaluated with classic transmitral pulsed and tissue Doppler techniques. Paired t test and Wilcoxon signed rank test had been used to compare the clinical and echocardiography data before and after treatment period. Results: A comparison of values assessed after one month and after 5 years of CPAP therapy, revealed a significant increase in the acceleration time(AT) Em/Am ratio and ejection time (ET) (AT: p=0.04; Em/Am ratio p=0.03 ET: p=0.04) while a significant decrease was observed on deceleration time (DT), isovolumetric relaxation time (IRT), myocardial performance index (MPI), mitral regurgitation (MR) and 24 hour mean heart rate (HR) in all subjects (DT: p=0.02; IVRT: p=0,04; MPI: p=0,01; MR: p=0.001; HR: p=0.004). Conclusion: We observed a significant improvement in the left ventricular systolic and diastolic function and a significant decrease of 24-hour heart rate and mitral regurgitation with unchanged ejection fraction of the left ventricle with long-term CPAP treatment similar to short-term treatment studies. The long-term maintenance of the beneficial effect of CPAP throughout the 5 year long-term treatment can be one of the pathophysiologic mechanisms that may explain the decrease of cardiovascular mortality observed with long-term CPAP therapy in OSAS patients.
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    The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Turkiye
    (KARE PUBL) Oktay, V; Tüfekçioglu, O; Yilmaz, DÇ; Onrat, E; Karabulut, D; Çelik, M; Balcioglu, AS; Sucu, MM; Özdemir, G; Kaya, H; Kis, M; Güven, B; Bagdatoglu, O; Çaglar, FNT; Yüksel, UÇ; Düzen, IV; Barutçu, A; Simsir, ÖS; Basarici, I; Parspur, A; Dalgiç, O; Özlük, FÖA; Evlice, M; Sag, S; Deniz, MF; Öcal, A; Gazi, E; Sen, T; Özdabakoglu, O; Çakici, NB; Bakir, EO; Kunak, AÜ; Çayli, G; Tasdelen, AG; Aksit, E; Çil, SU; Onay, H
    Background: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. Methods: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Turkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. Results: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. Conclusions: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.