The European Society of Cardiology has recently defined heart failure (HF) patient group with a left ventricular ejection fraction (LVEF) of 41–49% as a different category with the term heart failu...

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.

BACKGROUND: The ACEF risk score (age, creatinine, and ejection fraction) has been associated with satisfactory predictive values not only for short-term and long-term mortality but also for major adverse cardiovascular events. OBJECTIVES: Investigate the relationship between ACEF risk score and degree of coronary artery stenosis. DESIGN: Retrospective, observational study. SETTING: Tertiary percutaneous coronary intervention center. PATIENTS AND METHODS: In patients with coronary coronary artery stenosis <70% were compared with patients with stenosis ≥70%. All were diagnosed with chronic coronary syndrome (CCS) and had undergone coronary computed tomography angiography (CTA). Receiver operating characteristic analysis was performed for the cut-off value of the ACEF risk score. Univariable and multivariable regression analyses were performed for significant parameters related to degree of coronary artery stenosis in coronary CTA. MAIN OUTCOME MEASURES: Relationship between ACEF risk score and degree of coronary artery stenosis in coronary CTA. SAMPLE SIZE: 148 patients. RESULTS: In the multivariable regression analysis; left ventricular ejection fraction (OR: 0.94; 95%CI: 0.89-0.99, P =.015) and ACEF risk score (OR: 5.63; 95% CI: 1.62-19.57, P =.007) were independent predictors for degree of coronary artery stenosis. The ACEF risk score was statistically significantly higher in with patients with stenosis ≥70% (1.43 [0.59]) than in patients with stenosis <70% (0.98 [0.35]), P <.001). An ACEF risk score value >1.04 was a predictor of the presence of severe coronary artery stenosis detected by coronary CTA in patients with CCS, with 66% sensitivity and 69% specificity. CONCLUSIONS: A high ACEF risk score (age, creatinine, ejection fraction) in patients with CCS is associated with the presence of severe coronary artery stenosis detected by coronary CTA, and was useful as an assessment tool for coronary angiography in patients with CCS. LIMITATIONS: Since we do not have long-term follow-up results, we do not know the prognostic value of the ACEF risk score in the long-term follow-up of patients with CCS. CONFLICT OF INTEREST: None.

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.

Left ventricular hypertrophy (LVH) is potentially modifiable cardiovascular risk factor often overlooked in clinical practice. For this reason, we planned to LVH-TR (Left Ventricular Hypertrophy in Turkish Population) trial to determine the aetiological causes and demographic characteristics of LVH patients. Our study was a multicentre, national, observational study and included 886 patients who applied to the cardiology clinics in 22 centres between February 2020 and August 2021. In the initial evaluation, the Fabry disease (FD) and cardiac amyloidosis (CA) algorithm was followed in patients whose definitive etiologic cause(s) could not be identified. The most common aetiological causes of LVH in our study were hypertension with a rate of 56.6%, heart valve disease with 8.2%, and hypertrophic cardiomyopathy with 7.5%. Athlete’s heart was detected in eight patients, LV non-compaction was detected in four patients. The rate of LVH of unknown cause was 18.8%. FD was suspected in 143 patients, and CA was suspected in 16 patients. There were 43 (4.85%) patients with low α-galactosidase A enzyme levels. GLA gene mutation analysis was positive in 1.58% of all patients, and these patients were diagnosed with FD, and 15 (1.69%) patients were diagnosed with CA by endomyocardial biopsy method. In the aetiology of LVH, the rate of LVH of unknown cause was high. FD and CA should be considered primarily in this patient group. Early diagnosis of the disease by following the schemes leading to FD and CA was essential in starting treatment before the progression of the disease.