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Background: Channelopathies represent a heterogeneous group of rare inherited cardiac diseases associated with life-threatening arrhythmias. Our knowledge of their epidemiology in childhood is limited. The aim of this study is to evaluate the epidemiology of pediatric channelopathies on a Mediterranean island (Crete, Greece). Methods: Retrospective study of children < 18 years followed in the Regional Tertiary Pediatric Cardiology Unit during a 24-year period (2002–2025) and meeting the disease-specific diagnostic criteria. Results: A total of 43 children (32 families) were enrolled, corresponding to an average annual incidence of 1.43 (95% C.I.: 1.03–1.92) and a cumulative prevalence of 31.1 (95% C.I.: 22.1–42.5) cases per 100, 000 children, with significant regional incidence differences. Long QT syndrome (n = 38) was predominant; rare cases of Brugada syndrome (n = 3) and Catecholaminergic polymorphic tachycardia (n = 2) were recorded. The diagnosis was based on symptomatic presentation (n = 15, 35%), while asymptomatic patients (n = 28, 65%) were diagnosed during cascade family screening (n = 22, 51%) and preparticipation screening (n = 6, 14%). They represented the first diagnosis within affected families (index cases) in 21/43 (49%) of cases. Genetic testing was performed in 35/43 (81%) channelopathy cases and it was positive in 33/43 (77%) of them, specifically in 30 out of 38 (79%) LQT cases with a genotype of LQT2 in 15 (39%), LQT1 in 10 (26%), LQT3 in one (3%) and LQT5 in two (5%) cases. Conclusions: The incidence of pediatric channelopathies on the Mediterranean island of Crete seems comparable to that reported in the literature, with regional clusters of significantly increased incidence. Further study of the epidemiology of pediatric channelopathies is needed, to document any regional or ethnic differences and for the best design of large-scale screening programs.

Background: Screening for cardiovascular disease (CVD) and its associated risk factors in childhood facilitates early detection and timely preventive interventions. However, limited data are available regarding screening tools and their diagnostic yield when applied in unselected pediatric populations. Aims: To evaluate the performance of a CVD screening program, based on history, 12-lead ECG and phonocardiography, applied in primary school children. Methods: The methods used were prospective study, with voluntary participation of third-grade primary school children in the region of Crete/Greece, over 6 years (2018–2024). Personal and family history were collected by using a standardized questionnaire and physical evaluation (including weight, height, blood pressure measurement), and cardiac auscultation (digital phonocardiography (PCG)) and 12-lead electrocardiogram (ECG) were recorded at local health stations (Phase I). Following expert verification of responses and obtained data, assisted by designated electronic health record with incorporated decision support algorithms (phase II), pediatric cardiology evaluation at the tertiary referral center followed (phase III). Results: A total of 944 children participated (boys 49.6%). A total of 790 (83.7%) had Phase I referral indication, confirmed in 311(32.9%) during Phase II evaluation. Adiposity (10.8%) and hypertension (3.2%) as risk factors for CVD were documented in 10.8% and 3.2% of the total population, respectively. During Phase III evaluations (n = 201), the majority (n = 132, 14% of total) of children were considered as having a further indication for evaluation by other pediatric subspecialties for their reported symptoms. Abnormal CVD findings were present in 69 (7.3%) of the study population, including minor/trivial structural heart disease in 23 (2.4%) and 17 (1.8%), respectively, referred due to abnormal cardiac auscultation, and ECG abnormalities in 29 (3%), of which 6 (0.6%) were considered potentially significant (including 1 case of genetically confirmed channelopathy-LQT syndrome). Conclusions: CVD screening programs in school children can be very helpful for the early detection of CVD risk factors and of their general health as well. Expert cardiac auscultation and 12-lead ECG allow for the detection of structural and arrhythmogenic heard disease, respectively. Further study is needed regarding performance of individual components, accuracy of interpretation (including computer assisted diagnosis) and cost-effectiveness, before large-scale application of CVD screening in unselected pediatric populations.

Background and objectives In epidemiological research, spirometry is commonly used to estimate prevalence of COPD, as reliance on imprecisely delineated symptoms may introduce bias. Actually, the prevalence of airflow limitation in adults with no prior asthma diagnosis was studied using two different cut-offs for the FEV₁/FVC ratio: the fixed ratio (FR) and the lower limit of normal (LLN), based on data from the EMENO survey. Our objective was to estimate COPD prevalence in Greece under both definitions and to compare associated clinical features and comorbidities. Methods The EMENO study was a population-based survey (2014–2016) of 6,006 adults (≥18 years). This analysis included 2,450 participants aged 30–91 years, with high-quality spirometry and no prior asthma diagnosis. Airflow limitation indicative of COPD was defined by pre-bronchodilator FEV1/FVC < 0.70 (FR) and FEV1/FVC < LLN; self-reported COPD (SRPD) was also analyzed. Comorbidities and demographics were assessed through interviews and medical exams. Results COPD prevalence was 8.51% (FR), 5.33% (LLN), and 1.97% (SRPD). It was more common in men (13.2% FR+ and 8.5% LLN+), with the highest prevalence among current smokers (11.6%, FR; 9.1%, LLN). Prevalence was also higher in participants reporting respiratory symptoms. The FR+/LLN− (discordant) group was strongly associated with older age, blue-collar occupations, and comorbidities. Concordant cases (FR+/LLN+) had a higher prevalence of smoking and respiratory symptoms compared to discordant cases. Obesity was inversely associated with COPD under the LLN criterion, while sleep apnea syndrome increased the odds of concordant COPD. Conclusion COPD prevalence in Greece differed according to the obstructive threshold applied, with discordant and concordant cases showing distinct demographic and clinical risk profiles. The higher prevalence of obstruction among symptomatic participants further supports the use of spirometry as a valid surrogate in epidemiological studies. Overall, reliance on a single definition may misrepresent the true burden and heterogeneity of the disease.

Background. Our knowledge regarding the epidemiology of pediatric cardiomyopathy is based on large national population studies reporting an annual incidence of 1 case per 100,000 children, with a higher incidence observed in infancy and among selected populations. The aim here is to document the epidemiology of pediatric cardiomyopathy in a Mediterranean population. Methods. Children younger than 18 years of age living on the Mediterranean island of Crete, Greece, who have been evaluated since the establishment of tertiary pediatric cardiology services (2002–2022) were included in this retrospective study. Results. A total of 40 children were included, corresponding to an average annual incidence of pediatric cardiomyopathy of 1.59 cases (95% CI: 1.4–2.3) and a prevalence of 26 cases per 100,000 children. In decreasing order of frequency, most cases corresponded to dilated (50%), followed by hypertrophic (42.5%), arrhythmogenic (5%), and restrictive (2.5%) cardiomyopathy. An etiology was identified in 40%, including a genetic diagnosis in 22.5%. Conclusions. The incidence of pediatric cardiomyopathy in the Mediterranean island of Crete is higher compared with that reported previously for other Caucasian populations. Further study is needed to investigate the exact prevalence and specific genetic factors associated with the epidemiology of pediatric cardiomyopathy in Mediterranean populations.

Background/Objectives: Pacing-induced cardiomyopathy (PiCM) is a recognized complication of chronic right ventricular pacing (RVP), characterized by left ventricular (LV) dysfunction, adverse remodeling, and progression to heart failure. MicroRNAs (miRs) regulate gene expression and play an important role in ventricular remodeling. This study aimed to observe whether dynamic changes in miRs according to a novel peripheral blood mononuclear cell (PBMC)-based approach could serve as early predictive biomarkers of PiCM. Methods: A prospective, single-center cohort study was conducted in adult patients undergoing pacemaker implantation. Clinical characteristics, echocardiographic parameters and expression levels of miR-208b-3p and miR-9 were assessed immediately and 3 months post-pacemaker implantation. PiCM was defined as a ≥10% reduction in LVEF at one year, with no alternative cause. Statistical analyses included correlation testing, ROC curve analysis, and multivariate regression to identify factors associated with PiCM. Results: Among 126 patients, 11.1% developed PiCM. Compared with the non-PiCM group, those who developed PiCM exhibited more pronounced 3-month changes in miR-208b-3p (median Δ3log miR: +1.3 vs. −0.4, p = 0.013) and miR-9 (median Δ3log miR: −1.7 vs. +0.21, p = 0.011). In multivariate analyses, Δ3LV-GLS, Δ3logmiR-208b-3p, and Δ3logmiR-9 were associated with a higher likelihood of PiCM. Among PiCM patients, Δ3logmiR-208b-3p correlated inversely with Δ3LV-GLS (r = −0.73, p = 0.016), while Δ3logmiR-9 correlated positively (r = 0.88, p < 0.001). ROC analyses demonstrated good predictive ability for Δ3LV-GLS (AUC = 0.924), Δ3log miR-208b-3p (AUC = 0.783), and Δ3log miR-9 (AUC = 0.835), with no significant differences between curves. Conclusions: Early LV-GLS deterioration and dynamic changes in expression of miR-208b-3p and miR-9 in PBMCs precede overt LV systolic dysfunction. These miRs may serve as early predictive biomarkers for PiCM.

The mortality of patients with non-ischemic dilated cardiomyopathy (NIDCM) remains substantial. We evaluated gene expression levels of myocardin, an early cardiac gene, in the peripheral blood cells of NIDCM patients as a prognostic biomarker in their long-term outcome and mortality from congestive HF (CHF). We retrospectively analyzed 101 consecutives optimally treated NIDCM patients of Cretan origin who were enrolled from the HF clinic of our hospital from November 2005 to December 2008. Our patient data were either taken from their medical files or recorded during visits to the HF unit or hospitalizations. Follow-up was carried out by telephone interview and by accessing information from general practitioners and cardiologists in private practice. The median follow-up period was 8 years (mean follow-up 7 ± 3.4 years). The overall mortality during follow-up was 61.4%, while mortality due to congestive heart failure (CHF) was 49.5%. Higher CHF and all-cause mortality were observed in patients with myocardin levels < 14.26 ( p  < 0.001 for both CHF and all-cause mortality). A multivariate Cox regression analysis showed that myocardin level of expression had independent significant prognostic value for the risk of death from CHF (HR 14.5, 95% confidence interval (CI) 5.3–39) in those patients. Peripheral blood cells gene expression of myocardin, an early myocardial marker, may serve as prognostic biomarkers of the long-term outcome of patients with NIDCM. Our findings open new prospects in the risk stratification of these patients.

Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. However, a significant subset of patients does not respond to anti-TNF agents, for reasons that are still unknown. The aim of this study was to validate five single nucleotide polymorphisms (SNPs) of PTPRC, CD226, AFF3, MyD88 and CHUK gene loci that have previously been reported to predict anti-TNF outcome. In addition, two markers of RA susceptibility, namely TRAF1/C5 and STAT4 were assessed, in a cohort of anti-TNF-treated RA patients, from the homogeneous Greek island of Crete, Greece. The RA patient cohort consisted of 183 patients treated with either of 3 anti-TNF biologic agents (infliximab, adalimumab and etanercept) from the Clinic of Rheumatology of the University Hospital of Crete. The SNPs were genotyped by TaqMan assays or following the Restriction Fragments Length Polymorphisms (RFLPs) approach. Disease activity score in 28 joints (DAS28) at baseline and after 6 months were available for all patients and analysis of good versus poor response at 6 months was performed for each SNP. None of the 7 genetic markers correlated with treatment response. We conclude that the gene polymorphisms under investigation are not strongly predictive of anti-TNF response in RA patients from Greece.

Background Primary biliary cirrhosis (PBC) is a disease with genetic and environmental pathogenetic background. Chemicals, infectious agents, hormone therapy, reproductive history and surgical interventions have been implicated in the induction of PBC. Familial PBC has been documented in first degree relatives (FDR). Most cohort studies are genetically heterogeneous. Our study aimed to determine eventual lifestyle or disease associations and familial occurrence rates in a genetically homogeneous and geographically defined population of PBC patients. Methods 111 consenting PBC patients, were compared with 115 FDR and 149 controls matched for age, sex, Cretan origin and residence. All participants completed a questionnaire regarding demographics, lifestyle, medical, surgical and reproductive history. Significant variables on the univariate analysis were analyzed by multivariate analysis using a forward step-wise logistic regression model. Results Dyslipidaemia was found in 69.4% of patients, 60% of FDR and 40.9% of controls (p < 0.0001 and p = 0.003 respectively), autoimmune diseases in 36.9% of patients, 30.4% of FDR and 13.4% of controls (p < 0.0001 and p = 0.011 respectively). Hashimoto’s disease (p = 0.003), Raynaud syndrome (p = 0.023) and Sjögren syndrome (p = 0.044) were significantly associated with PBC. On multivariate analysis statistically significant associations were found with primary educational level (AOR 2.304, 95% CI 1.024-5.181), cholecystectomy (AOR 2.927, 95% CI 1.347-6.362) and the presence of at least another autoimmune disease (AOR 3.318, 95% CI 1.177-6.22). Cancer history was more frequent in patients than in controls (p = 0.033). Familial PBC was found to be 9.9%. Conclusions Dyslipidaemia and autoimmune diseases were significantly increased not only in patients as expected but also in their FDR. An increased prevalence of malignancies was found in patients. Primary educational level, cholecystectomy and the presence of at least another autoimmune disease were found as putative risk factors for PBC. No association was found with smoking, urinary tract infection or reproductive history. The reported high familial occurrence of PBC could imply screening with AMA of FDR with at least another autoimmune disease.

In patients with atrial high-rate episodes, edoxaban did not significantly reduce the incidence of stroke and cardiovascular outcomes as compared with placebo, but it led to a higher incidence of bleeding.

It has been suggested that rapid atrial pacing (AOP) may be beneficial in some patients with sleep apnea. However, in a study comparing AOP with nasal continuous positive airway pressure (n-CPAP) in a series of patients with moderate or severe obstructive sleep apnea, AOP had no significant effect, whereas n-CPAP was highly effective. In this study comparing atrial overdrive pacing with nasal continuous positive airway pressure in a series of patients with moderate or severe obstructive sleep apnea, overdrive pacing had no significant effect, whereas n-CPAP was highly effective. The obstructive sleep apnea–hypopnea syndrome is a condition characterized by repeated episodes of upper-airway occlusion during sleep, with consequent excessive daytime sleepiness, impairment of quality of life, and abnormalities in cardiopulmonary function. It is the most common sleep-related breathing disorder and is associated with considerable morbidity and mortality. 1 , 2 Our understanding of the pathophysiology of the obstructive sleep apnea–hypopnea syndrome is somewhat limited. Anatomical narrowing of the airway, increased collapsibility of the airway tissues, a disturbance in the reflexes that affect the caliber of the upper airway, and abnormalities of pharyngeal-muscle function all contribute to upper-airway occlusion during sleep. 3 However, . . .