Background: The aim of this study was to explore the rare variants in a cohort of Romanian index cases with hypertrophic cardiomyopathy (HCM). Methods: Forty-five unrelated probands with HCM were screened by targeted next generation sequencing (NGS) of 47 core and emerging genes connected with HCM. Results: We identified 95 variants with allele frequency < 0.1% in population databases. MYBPC3 and TTN had the largest number of rare variants (17 variants each). A definite genetic etiology was found in 6 probands (13.3%), while inconclusive results due to either known or novel variants were established in 31 cases (68.9%). All disease-causing variants were detected in sarcomeric genes (MYBPC3 and MYH7 with two cases each, and one case in TNNI3 and TPM1 respectively). Multiple variants were detected in 27 subjects (60%), but no proband carried more than one causal variant. Of note, almost half of the rare variants were novel. Conclusions: Herein we reported for the first time the rare variants identified in core and putative genes associated with HCM in a cohort of Romanian unrelated adult patients. The clinical significance of most detected variants is yet to be established, additional studies based on segregation analysis being required for definite classification.

Atrial septal defect (ASD) represents the most common congenital heart defect identified in adulthood. Atrial and ventricular geometric remodeling due to intracardiac shunt increase the risk of arrhythmias, especially atrial fibrillation (AF). Clinical, echocardiography, electrocardiogram, and device-related predictors may be used to assess the risk of atrial arrhythmias after ASD closure. The underlying mechanisms in these patients are complex and at least in part independent of the structural remodeling secondary to hemodynamic overload. Device closure of the ASD itself and its timing impact future arrhythmia risk, as well as posing a challenge for when transseptal puncture is required. Sudden cardiac death (SCD) risk is higher than in the general population and an implantable cardioverter-defibrillator (ICD) may be indicated in selected cases.

Background: We aimed to evaluate whether right ventricle (RV) longitudinal strain indexed to pulmonary arterial systolic pressure (PASP) has prognostic significance in patients undergoing cardiac resynchronization therapy (CRT). Methods: Patients undergoing CRT were prospectively included. The primary endpoint was adverse cardiovascular events (death and HF-related hospitalizations). RV global longitudinal strain (RVGLS) and RV free wall strain (RVfwS) were measured by speckle tracking and indexed to echocardiographic estimated PASP. Results: A total of 54 patients (64.0 ± 13.8 years; 58% male) were included. After 33 ± 12.9 months, the primary endpoint occurred in 18 patients. Baseline RVGLS/PASP and RVfwS/PASP showed good discriminative ability for response to CRT (AUC = 0.88, 95% CI (0.74–1) and AUC = 0.87, 95% CI (0.77–1)). RVGLS/PASP and RVfwS/PASP were significantly associated with high risk of events at univariate analysis (HR 0.039, 95% CI (0.001–0.8) p < 0.05, respectively HR = 0.049, 95% CI (0.0033–0.72), p < 0.05). Upon multivariate Cox regression analysis, RVGLS/PASP and RVfwS/PASP remained associated with high risk of events (HR 0.018, 95% CI (0.0005–0.64), p = 0.02 and HR 0.015, 95% CI (0.0004–0.524), p = 0.01) after correction for gender, etiology, QRS duration and morphology. Conclusions: Indexing RV longitudinal strain (global and free wall) by PASP provides a parameter, which independently identifies patients with high risk of cardiovascular events and predicts non-response to CRT.

Background: Patients with end-stage renal disease (ESRD) are at elevated risk for device-related complications following pacemaker implantation. Leadless pacemakers (LPMs) offer theoretical advantages over transvenous pacemakers (TVPs), but their safety and efficacy in this high-risk population remain unclear. Our aim was to compare clinical outcomes and complication profiles between leadless and transvenous pacemakers in patients with ESRD. Methods: We conducted a systematic review and meta-analysis according to PRISMA guidelines, including three retrospective studies comparing LPMs and TVPs in ESRD patients. The primary endpoint was overall complications post-implantation. Secondary outcomes included early mortality (within 30 days), access site complications, device-related events, thrombotic events, and respiratory complications. A random-effects model was used to pool odds ratios (ORs) and 95% confidence intervals (CIs). Results: Three studies comprising 10.075 ESRD patients were included. No significant difference was found in overall complications (OR 1.35, 95% CI 0.78–2.33, p = 0.14) or early mortality (OR 1.01, 95% CI 0.42–2.43, p = 0.97) between LPM and TVP groups. However, LPMs were associated with increased access site complications (OR 2.51, 95% CI 1.06–5.90, p = 0.04), thrombotic events (OR 1.42, 95% CI 1.14–1.78, p = 0.03), and respiratory complications (OR 1.43, 95% CI 1.01–2.03, p = 0.05). Device-related complication rates were similar (OR, 1.09; 95% CI, 0.63–1.88; p = 0.30). Heterogeneity was low across most outcomes. Conclusions: Among patients with ESRD, leadless pacemakers did not reduce overall complications or short-term mortality compared to transvenous systems and were associated with increased risk of certain procedural complications. These findings could support a personalized approach to device selection in ESRD and highlight the need for further prospective studies to guide clinical decision-making in this population.

Background: When conservative therapies are insufficient for vasovagal syncope (VVS), procedural options such as permanent pacemakers or catheter ablation of ganglionated plexi (GP) may be considered. This meta-analysis aimed to evaluate the efficacy of GP catheter ablation in patients with VVS. Methods: A comprehensive literature search was performed in PubMed, Embase, and the Cochrane Library from 15 March 2024 to 10 May 2025. After duplicate removal, two reviewers independently screened studies and assessed full texts based on predefined criteria. A single-arm proportion meta-analysis was conducted. Results: Thirty-seven studies comprising 1585 participants were included. The pooled proportion of VVS recurrence after ablation was 8.9% (95% CI, 6.4–11.4%), but with substantial heterogeneity (I² = 74.4%, p < 0.001). Sensitivity and subgroup analyses confirmed the robustness of the pooled estimate. A meta-regression was performed to further explore potential effect modifiers, but no covariate reached statistical significance. Conclusions: This meta-analysis suggests that ganglionated plexi catheter ablation may be associated with a reduced recurrence of vasovagal syncope in selected populations. However, the findings are based predominantly on non-randomized observational studies, and the high between-study heterogeneity limits the strength of inference. Future randomized controlled trials with standardized methodologies are needed to confirm the long-term efficacy and safety of this intervention.