The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

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 Türkiye. 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.

Radioprotective Effect of Nigella Sativa Oil on Heart Tissues of Rats Exposed to Irradition

Abstract Background Various studies are ongoing related to the radioprotective agents. Herbal preparations are currently becoming popular because of their beneficial effects with fewer side effects compared to the synthetic/semi-synthetic medicines, and Nigella sativa oil (NSO) is only one of them. Objective To investigate NSO for its antioxidant effects on the heart tissue of rats exposed to ionizing radiation (IR). Methods Thirty six male albino Wistar rats, divided into four groups, were designated to group I (IR plus NSO group) that received both 5 Gray of gamma IR to total cranium and NSO; group II (IR alone group) that received IR plus saline, group III (control group of NSO) that received saline and did not receive NSO or IR; group IV (control group) that received only sham IR. Alterations in Total antioxidant status (TAS) and Total oxidant status (TOS), Oxidative stres index (OSI), Sulhydryl group (SH), Lipid hydroperoxide (LOOH), Paraoxonase (PON) levels, Arylesterase (ARE) and Ceruloplasmin (CER) activities in homogenized heart tissue of rats were measured by biochemical methods. Results In heart tissue of the rats in the IR alone group (group II) LOOH, TOS and OSI levels were found to be higher, ARE activity and TAS level were found to be lower than all of the other groups (p < 0.01). These results also support that IR increases oxidative stress and NSO's protective effect. Conclusion NSO would reduce the oxidative damage in the irradiated heart tissue in the experimental rat model.

Geriatric nutritional risk index is a predictor of recurrent percutaneous coronary intervention in patients with non-ST segment elevation myocardial infarction.

Aim To investigate the relationship between malnutrition and follow-up cardiovascular (CV) events in non-ST-segment elevation myocardial infarction (NSTEMI).Material and methods A retrospective study was performed on 298 patients with NSTEMI. The baseline geriatric nutritionalrisk index (GNRI) was calculated at the first visit. The patients were divided into three groups accordingto the GNRI: >98, no-risk; 92 to ≤98, low risk; 82 to <92, moderate to high (MTH) risk. The studyendpoint was a composite of follow-up CV events, including all-cause mortality, non-valvular atrialfibrillation (NVAF), hospitalizations, and need for repeat percutaneous coronary intervention (PCI).Results Follow-up data showed that MTH risk group had significantly higher incidence of repeat PCI and all-cause mortality compared to other groups (p<0.001). However, follow-up hospitalizations and NVAFwere similar between groups (p>0.05). The mean GNRI was 84.6 in patients needing repeat PCI and99.8 in patients who did not require repeat PCI (p<0.001). Kaplan Meier survival analysis showed thatpatients with MTH risk had significantly poorer survival (p<0.001). According to multivariate Coxregression analysis, theMTH risk group (hazard ratio=5.372) was associated with increased mortality.Conclusion GNRI value may have a potential role for the prediction of repeat PCI in patients with NSTEMI.

Clinical practices of the management of nonvalvular atrial fibrillation and outcome of treatment: A representative prospective survey in tertiary healthcare centers across Turkey.

OBJECTIVE: The goal of this study was to define clinical practice patterns for assessing stroke and bleeding risks and thromboprophylaxis in nonvalvular atrial fibrillation (NVAF) and to evaluate treatment outcomes and patient quality of life. METHODS: A clinical surveillance study was conducted in 10 tertiary healthcare centers across Turkey. Therapeutic approaches and persistence with initial treatment were recorded at baseline, the 6th month, and the 12th month in NVAF patients. RESULTS: Of 210 patients (57.1% male; mean age: 64.86±12.87 years), follow-up data were collected for 146 patients through phone interviews at the 6th month and 140 patients at the 12th month. At baseline, most patients had high CHADS2 score (≥2: 48.3%) and CHA2DS2-VASc (≥2: 78.7%) risk scores but a low HAS-BLED (0-2: 83.1%) score. Approximately two-thirds of the patients surveyed were using oral anticoagulants as an antithrombotic and one-third were using antiplatelet agents. The rate of persistence with initial treatment was approximately 86%. Bleeding was reported by 22.6% and 25.0% of patients at the 6th and 12th month, respectively. The proportion of patients with an INR of 2.0-3.0 was 41.8% at baseline, 65.7% at the 6th month, and 65.9% at the 12th month. The time in therapeutic range was 61.0% during 1 year of follow-up. The median EuroQol 5-dimensional health questionnaire (EQ-5D) score of the patients at baseline and the 12th month was 0.827 and 0.778, respectively (p<0.001). The results indicated that patient quality of life declined over time. CONCLUSION: In atrial fibrillation, despite a high rate of persistence with initial treatment, the outcomes of stroke prevention and patient quality of life are not at the desired level. National health policies should be developed and implemented to better integrate international guidelines for the management of NVAF into clinical practice.

The relationship between terminal QRS complex distortion and early low dose dobutamine stress echocardiography in acute anterior myocardial infarction.

Although the damage in myocardial infarction has been demonstrated to be related with the magnitude and number of ST elevation, its relation with terminal distortion of QRS is unclear. The relationship between terminal QRS distortion in ECGs on admission and the results of early low dose dobutamine stress echocardiography (LDSE) performed 6 +/- 2 days later was investigated. Patients admitted to our clinic within the first six hours of their chest pain and without a prior infarction diagnosis were divided into two groups based on the admission electrocardiogram as the absence (QRS-, n = 33) or presence (QRS+, n = 29) of distortion of the terminal portion of the QRS in > or = 2 leads (QRS+; J point at > 50% of the R wave amplitude in lateral leads or presence of ST elevation without S wave in leads V1-V3). There were no significant differences between the groups with respect to thrombolytic therapy or reperfusion criteria. During LDSE, the infarct zone wall motion score index (WMSI) in the QRS- group was significantly decreased relative to baseline (from 2.93 +/- 0.65 to 2.37 +/- 0.84, P = 0.02), and it was significantly different compared with WMSI in the QRS+ group (P = 0.005). Improvement of akinetic regions to hypokinetic regions in the infarct zone (IZ) was found to be 33.5% (44/131) in the QRS- group and 17.8% (27/151 P = 0.004) in the QRS+ group. Furthermore, 55.1% (10/29) of the patients in the QRS+ group and only 18.1% (6/33) of those in the QRS- group did not respond to LDSE (P < 0.05). In multiple logistic regression analysis, while there was no relationship between good left ventricular functions (WMSI < 2) and terminal QRS distortion under basal conditions (P = 0.07), an independent relation was observed to exist between them after LDSE (P = 0.03, OR 4.48, 95% CI, 1.13-17.7). Moreover, plasma CK levels were higher in the QRS+ group (P = 0.03), whereas the ejection fraction was worse (P = 0.01). In both groups, there was no correlation between the Selvester score and left ventricle WMSI at baseline, but this correlation was significantly improved with LDSE (QRS-; r = 0.39 P = 0.02 and QRS+; r = 0.44 P = 0.01) The viability in the IZ is relatively less in those patients with terminal QRS distortion observed in their ECG on admission. This simple classification would be useful in predicting left ventricular function at the time of discharge.