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. 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. 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. 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.
Aim: We aimed to evaluate the awareness of pneumococcal vaccination (PCV13, PPSV23) in general cardiology outpatient clinics and impact of physicians’ recommendations on vaccination rates. Methods: This was a multicenter, observational, prospective cohort study. Patients over the age of 18 from 40 hospitals in different regions of Turkey who applied to the cardiology outpatient clinic between September 2022 and August 2021 participated. The vaccination rates were calculated within three months of follow-up from the admitting of the patient to cardiology clinics. Results: The 403 (18.2%) patients with previous pneumococcal vaccination were excluded from the study. The mean age of study population (n = 1808) was 61.9 ± 12.1 years and 55.4% were male. The 58.7% had coronary artery disease, hypertension (74.1%) was the most common risk factor, and 32.7% of the patients had never been vaccinated although they had information about vaccination before. The main differences between vaccinated and unvaccinated patients were related to education level and ejection fraction. The physicians’ recommendations were positively correlated with vaccination intention and behavior in our participants. Multivariate logistic regression analysis showed a significant correlation between vaccination and female sex [OR = 1.55 (95% CI = 1.25–1.92), p < 0.001], higher education level [OR = 1.49 (95% CI = 1.15–1.92), p = 0.002] patients’ knowledge [OR = 1.93 (95% CI = 1.56–2.40), p < 0.001], and their physician’s recommendation [OR = 5.12 (95% CI = 1.92–13.68), p = 0.001]. Conclusion: To increase adult immunization rates, especially among those with or at risk of cardiovascular disease (CVD), it is essential to understand each of these factors. Even if during COVID-19 pandemic, there is an increased awareness about vaccination, the vaccine acceptance level is not enough, still. Further studies and interventions are needed to improve public vaccination rates.
1 January 2024 in Arquivos Brasileiros de Cardiologia
Background Dual antiplatelet therapy (DAPT) is the treatment of choice for patients with acute and chronic coronary syndromes as it reduces mortality and prevents recurrent thrombotic complications. The assessment of both ischaemic burden and bleeding risk is crucial in deciding which DAPT to choose and how long it should be continued. Objectives The aim of our study was to perform prospective clinical follow-up of patients receiving fixed-dose combination therapy (ASA 75 mg + clopidogrel 75 mg). Our study is a multicentric, cross-sectional, observational, cohort study. Methods A total of 1500 patients who were started on fixed-dose combination DAPT for acute or chronic coronary syndrome were included in the study. Primary endpoints were hospitalization for any reason, hospitalization for cardiovascular cause, acute myocardial infarction, stent thrombosis, target vessel revascularization and bleeding; the secondary endpoints were death for any reason or cardiovascular cause and stroke. The significance level adopted in the statistical analysis was 5%. Results Median age was 63 years; 78.5% of the patients were receiving DAPT treatment for acute coronary syndrome. The rates of hospitalization for cardiovascular reasons, acute myocardial infartion, stent thrombosis and target-vessel revascularization were 7.9%, 2.3%, 1.3% and 4.2%, respectively. While the rate of BARC type 1 bleeding was 3.3%, the rate of BARC type 5, 3, or 2 bleeding was 0.6%. The secondary endpoints which were death from any cause, cardiovascular death and stroke were 0.5%, 0.3% and 0.3%, respectively. Conclusion: Our study shows that fixed-dose combination therapy is effective and safe in appropriately selected patients with acute or chronic coronary syndromes.
Preeclampsia (PE) is associated with long-term cardiovascular risk, yet conventional postpartum evaluations often fail to detect early hemodynamic alterations. Masked hypertension (MH) characterized by normal office blood pressure but elevated readings on ambulatory blood pressure monitoring (ABPM)has gained attention as a potential early indicator of cardiovascular dysfunction. This study aimed to determine the prevalence of MH and examine its relationship with aortic stiffness and early cardiac remodeling in postpartum women with a history of PE. This cross-sectional study included 50 women with prior PE and 50 age-matched normotensive controls at least one year postpartum. All participants underwent office BP measurement, 24-hour ABPM, and transthoracic echocardiography. Aortic stiffness index (ASI), aortic strain, left ventricular mass index (LVMI), and diastolic function parameters were evaluated. Logistic regression identified independent predictors of masked hypertension. Masked hypertension was significantly more prevalent in the PE group than controls (38% vs. 20%, p = 0.047). ASI and LVMI were significantly higher, and aortic strain significantly lower, in the PE group. Among PE patients, those with MH had elevated ASI, LVMI, and isovolumic relaxation time. In multivariate analysis, ASI (OR = 6.12, p = 0.002) and LVMI (OR = 1.05, p = 0.048) independently predicted MH. Masked hypertension is common among women with a history of preeclampsia and is linked to increased vascular stiffness and cardiac remodeling. These findings support the integration of ABPM and echocardiographic evaluation into postpartum cardiovascular risk screening, especially in high-risk women.
Background: Achieving target low-density lipoprotein cholesterol (LDL-C) levels in patients with atherosclerotic cardiovascular disease (ASCVD) frequently requires combination lipid-lowering therapy. Single-pill combination (SPC) regimens may improve adherence compared with free-dose combinations (FDC) in real-world clinical practice. Methods: This retrospective observational study included 450 ASCVD patients with baseline LDL-C levels of 70–189 mg/dL who were followed in cardiology outpatient clinics between January 2023 and December 2024. Patients received atorvastatin–ezetimibe either as a single-pill combination (SPC, n = 392) or as a free-dose combination (FDC, n = 58). Primary endpoints were LDL-C reduction and treatment adherence (≥ 80% of prescribed doses). Secondary endpoints included LDL-C target attainment and adverse events. Non-parametric tests and chi-square/Fisher’s exact tests were used for statistical analysis. Results: At 1 month, LDL-C levels were significantly lower in the SPC group compared with the FDC group (90.6 vs. 119 mg/dL; p = 0.005), and adherence was higher (89.8% vs. 70.7%; p < 0.001). At 4 months, LDL-C levels were comparable between groups, while continuous adherence remained significantly higher in the SPC group (86% vs. 69%; p = 0.001). A higher proportion of SPC-treated patients achieved LDL-C < 100 mg/dL at 1 month (81.9% vs. 67.2%; p = 0.009). Conclusions: In this real-world ASCVD cohort, SPC therapy with atorvastatin and ezetimibe was associated with superior adherence and comparable lipid-lowering efficacy despite lower statin doses. Fixed-dose combination strategies may represent an effective approach to optimize adherence and cardiovascular risk management.
Objective: Patients with a prior history of coronary artery bypass grafting (CABG) presenting with non–ST-elevation acute coronary syndrome (NSTE-ACS) represent a high-risk population in whom revascularization decisions are frequently individualized in real-world practice. Objective biomarkers capable of supporting treatment selection in this setting remain limited. The Naples Prognostic Score (NPS), a composite index integrating inflammatory and nutritional parameters, may reflect overall clinical vulnerability. Methods: In this retrospective, single-center observational cohort study, the association between NPS and treatment strategy selection was evaluated in 367 patients with prior CABG presenting with NSTE-ACS between January 2019 and October 2025. NPS was calculated at admission prior to coronary angiography using total cholesterol, neutrophil-to-lymphocyte ratio, lymphocyte-to-monocyte ratio, and serum albumin levels. Patients were categorized into low (0–2) and high (3–4) NPS groups. Treatment strategies were determined through routine multidisciplinary clinical assessment and were not influenced by study investigators. Multivariable logistic regression and prespecified stratified sensitivity analyses were performed. Results: Revascularization was selected in 169 patients (46.0%), including 164 percutaneous coronary interventions and 5 redo CABG procedures. Patients undergoing revascularization had significantly lower NPS values. High NPS was independently associated with a lower likelihood of being selected for revascularization (OR 0.28, 95% CI 0.17–0.48; p < 0.001). Procedural success rates following PCI were similar between NPS groups (89.0% overall; p = 0.161). Results remained consistent across stratified sensitivity analyses according to clinical presentation, chronic kidney disease status, and age categories. Conclusions: Higher NPS values were associated with a lower likelihood of revascularization without affecting procedural success. NPS appears to reflect disease burden and clinical vulnerability rather than treatment benefit. It may also capture acute inflammatory status and should be considered a complementary, not decisive, clinical marker.