Search Results (347)

Background: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart disorder characterized by structural and functional myocardial alterations, often accompanied by ventricular arrhythmias (VAs), which may ultimately result in sudden cardiac death (SCD). While mutations in genes coding for desmosomal components are commonly identified in affected individuals, genetic variants involving non-desmosomal proteins have recently been recognized as contributors to the disease’s etiology. In 2008, a mutation in the transmembrane protein 43 (TMEM43) was identified as being responsible for a fully penetrant, sex-related, and severe form of ACM. This review aimed to systematically synthesize the current evidence on the natural history, electrocardiographic, and imaging findings as well as the clinical outcomes of TMEM43 cardiomyopathy. Methods: A systematic search was performed in the PubMed, Scopus, and Web of Science databases, following the PRISMA guidelines, using the terms “TMEM43” AND “cardiomyopathy”. After an initial screening of 144 retrieved articles, 80 were considered relevant. Upon a full-text review and eligibility assessment, 12 studies involving 903 individuals harboring TMEM43 variants were selected for inclusion. Results: Male patients more frequently carried the pathogenic TMEM43 variant (n = 505, 55.9%) and exhibited an earlier arrhythmic onset of the disease (33.2 years old versus 46.2 years old in female patients), supporting the need for earlier implantable cardioverter–defibrillator implantation (30.4 versus 42.2 years old). Palpitations, chest pain, and syncope were the most common presenting symptoms. Baseline electrocardiograms commonly demonstrated poor R wave progression, QRS prolongation, and premature ventricular contractions (PVCs). Arrhythmic events, including malignant VAs and SCD, were early manifestations of the disease, especially in male patients. Frequent PVCs and left ventricular dilation were considered early markers of the disease and were predictive of arrhythmic events. Conversely, heart failure was reported as a late clinical outcome, requiring heart transplantation in a minority of cases (1.5%). Conclusions:TMEM43 cardiomyopathy is a fully penetrant autosomal dominant form of ACM, characterized by a well-defined clinical phenotype that is more severe and presents earlier in male patients. Full article

Anomalies of coronary artery origins are rare but significant conditions that can range from benign to life-threatening. Early detection through imaging is crucial in preventing adverse outcomes. The treatment strategy varies depending on the type and severity of the anomaly, ranging from pharmacological treatment to surgery. A 22-year-old male patient, after syncope, after excluding other causes, had an exercise drill test, which was clinically negative and ECG-positive. Angio-CT revealed an undeveloped left main coronary artery (LMCA), and the circulation was supplied through the right coronary artery (RCA). The RCA provides the left anterior descending artery (LAD), and the LAD retrogradely supplies the left circumflex artery (LCX). The myocardial perfusion scintigraphy showed a slight lack of perfusion in the anterior wall (6% of total perfusion). The patient was qualified for further observation. A 77-year-old female underwent cardiac CT due to stenocardia. CT showed a lack of LMCA. The initial segment of the RCA gave rise to the left coronary artery (LCA), which encircled the aortic bulb posteriorly and bifurcated into branches resembling the LCX and LAD. After the Heart Team consultation, the patient was deemed eligible for conservative treatment. Angio-CT is a valuable tool for detecting coronary artery anomalies. Full article

Background/Objectives: The incidence of cardiac morbimortality in patients with relapsed/refractory (R/R) acute myeloid leukemia (AML) is unknown. Methods: We analyze the characteristics, incidence, risk factors, and outcomes of cardiac events in AML patients treated for second-line (2L) or third-line (3L) episodes. Results: Among 327 2L AML patients (median age 62 years old), 135 experienced cardiac events, with an incidence of 38.6% non-fatal and 1.3% fatal events at 6 months. The grade 1–2 incidence was 16.8%, and the grade 3–4 incidence was 23.5% at 6 months. Overall, 207 cardiac events occurred in the 2L cohort, the most frequent being hypertension (n = 45), bradycardia (n = 39), QTc prolongation (n = 35), heart failure (n = 33), syncope/presyncope (n = 22), arrhythmia (n = 18), and myocardial ischemia (n = 8). Median OS in the 2L cohort was 9.4 months, 21.4 months in patients with grade 1–2, 8.8 months in patients without a cardiac event, 7.6 months in grade 3–4 patients, and 2.1 months with in 5 patients (p = 0.0035). The multivariate analysis showed prior cardiologic antecedents (p = 0.013), intensive 2L chemotherapy (p = 0.01), and inclusion in a 2L clinical trial (p < 0.001) as independent risk factors for non-fatal cardiac events. Among 189 patients of the 3L cohort, the incidence of non-fatal and fatal cardiac events was 49.2% and 0% at 6 months, respectively. Non-fatal cardiac events were more frequent in patients with prior cardiac antecedents (p = 0.004). Conclusions: In summary, cardiotoxicity is a frequent and challenging complication in R/R AML patients. We identified the risk factors that could be relevant to implementing risk-adapted management guidelines, aiming to reduce morbi-mortality in this difficult-to-treat setting. Full article

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. Full article

Bradyarrhythmia is associated with an increased risk of falls, syncope, and sudden cardiac arrest in Parkinson’s disease (PD). However, studies investigating bradyarrhythmia in PA have been scarce. Therefore, we aimed to assess trends, prevalence, and risk factors of bradyarrhythmia and pacemaker implantation in PD patients. The National Inpatient Sample was utilized to identify patients’ data with primary and secondary diagnoses of Parkinson’s disease (PD) from 2016 to 2020. A total of 333,242 patients had a PD diagnosis; of these, 5092 (1.5%) had comorbid diagnoses of bradyarrhythmia. The prevalence of bradyarrhythmia in patients with PD was 351.9 per 10,000 hospitalizations (3.5%), with an increase from 291.9 to 463.8 per 10,000. However, the trends remained relatively stable. The overall prevalence of pacemaker implantation in patients with PD was 79.9 per 10,000 hospitalizations (0.8%). The overall trend of pacemaker implantation was stable in patients with PD. Age ≥ 65, male sex, and comorbidities (atrial fibrillation, coronary artery disease, heart failure, hypertension, liver failure, obesity, peripheral vascular disease, renal failure) were associated with a higher likelihood of bradyarrhythmia in patients with PD. This study’s findings revealed an increase in the prevalence of bradyarrhythmia. However, the prevalence of pacemaker implantation remained relatively stable over the study period. Full article

Syncope of unclear cause (SUC) presents a significant diagnostic challenge, with a considerable proportion of patients remaining without a definitive diagnosis despite comprehensive clinical evaluation. This study aims to explore the potential of unsupervised machine learning (ML), specifically clustering algorithms, to identify clinically meaningful subgroups within a cohort of 123 patients with SUC. Patients were prospectively recruited from the cardiology, neurology, and emergency departments, and clustering was performed using the k-prototypes algorithm, which is suitable for mixed-type data. The number of clusters was determined through cost function analysis and silhouette index, and visual validation was performed using UMAP. Five distinct patient clusters were identified, each exhibiting unique profiles in terms of age, comorbidities, and symptomatology. After clustering, nocturnal cardiorespiratory polygraphy and heart rate variability (HRV) parameters were analyzed across groups to uncover potential physiological differences. The results suggest distinct autonomic and respiratory patterns in specific clusters, pointing toward possible links among sympathetic dysregulation, sleep-related disturbances, and syncope. While the sample size imposes limitations on generalizability, this pilot study demonstrates the feasibility of applying unsupervised ML to complex clinical syndromes. The integration of clinical, autonomic, and sleep-related data may provide a foundation for future, larger-scale studies aiming to improve diagnostic precision and guide personalized management strategies in patients with SUC. Full article

Aim: The aim of this study was to evaluate choroidal and peripapillary retinal nerve fiber layer (RNFL) thicknesses in individuals with vasovagal syncope (VVS). Method: A total of 67 consecutive patients with VVS and 61 healthy control subjects were enrolled this study. The choroidal thickness (CT) at the fovea, the nasal to fovea thickness, and the temporal to fovea thickness were measured, alongside pRNLFT measurements assessed by swept-source optical coherence tomography (SS-OCT). Results: The mean foveal CT (408.7 ± 92.5 μm vs. 342.1 ± 60.2 μm, p < 0.01), the mean nasal CT (385.2 ± 88.3 μm vs. 329.2 ± 47.6 μm, p < 0.001), and the mean temporal CT (379.5 ± 51.6 μm vs. 321.48 ± 43.2 μm, p < 0.03) were statistically thicker in patients with VVS compared to the healthy controls. There was no statistically significant difference in the global pRNFLT measurements and all quadrants between the study groups. Conclusions: The CT in all regions was found to be thicker in patients with VVS compared to the healthy controls, while there were no differences in pRNFLT values. These results suggest that choroidal circulation might be affected by local neurotransmitter alterations in patients with VVS. Full article

Background and clinical significance: Functional/dissociative seizures (FDSs) in adolescents are paroxysmal events which superficially resemble epileptic seizures or syncope. This study evaluated the effectiveness of brief cognitive analytic therapy (CAT). Case presentation: The patient was a 17-year-old white cisgender male with a diagnosis of non-epileptic attack disorder. The functional/dissociative seizures were treated with 8-session CAT, with follow-up at 5 weeks. Two target problems (TPs) and associated target problem procedures (TPPs) were rated for recognition and revision at each session and at follow-up. An A-B-C-FU single-case experimental evaluation of the TP/TPPs was conducted. Nomothetic outcome measures (DES-2 and RCADS) were administered at session 1, session 8, and at follow-up, and the YP-CORE and the Session Rating Scale were completed at each session. The patient was independently interviewed using the Change Interview 13 weeks after completing therapy. The results show that CAT effectively increased the recognition and revision of TPs/TPPs, four specific changes occurred (including cessation of functional seizures). There were pre–post reliable and clinically significant improvements to psychological wellbeing, but these were not maintained at follow-up. Conclusions: This study indicates that CAT was a partially effective intervention. The use of CAT as a treatment for FND in adolescents holds promise, but more research is needed. Full article

This observational pilot study investigated neurocardiovascular responses to an active stand test using continuous physiological monitoring and functional data analysis (FDA) in older women. A sample of 25 community-dwelling female adults aged 59–78 years (mean age: 70.3 years) participated. Participants were dichotomized into comparison groups based on five factors: age (<70 vs. ≥70 years); the presence of initial orthostatic hypotension (IOH, yes/no); body mass index (BMI < 25 vs. ≥25 kg/m²); antihypertensive medication use (yes/no); and physical frailty status assessed by the Survey of Health, Ageing and Retirement in Europe—Frailty Instrument (SHARE-FI score < −0.5 vs. ≥−0.5). Each participant completed an active stand test during which six physiological signals were continuously recorded: systolic (sBP) and diastolic (dBP) blood pressure and heart rate (HR) via digital artery photoplethysmography and left frontal oxygenated hemoglobin (O₂Hb), deoxygenated hemoglobin (HHb), and tissue saturation index (TSI) via near-infrared spectroscopy (NIRS). The signal analysis focused on a standardized 200 s window spanning 50 s before to 150 s after the stand, with all signals resampled and synchronized at 5 Hz. FDA was used to statistically compare the full time series between groups for each signal. Group-level differences revealed that younger participants (<70 years) exhibited significantly higher HR in multiple periods following the stand (~10 s, ~30 s, ~90 s, and ~140 s post-stand) compared to their older counterparts. Participants with IOH demonstrated significantly lower sBP at ~10 s, ~80 s, and ~130 s post-stand and lower dBP at ~10 s post-stand. Among participants classified as overweight/obese (BMI ≥ 25 kg/m²), significantly lower levels of HHb were observed at ~10 s, ~30–50 s, and ~60 s post-stand, while O₂Hb levels were reduced at ~50 s, ~60 s, ~70–110 s, ~130 s, and ~140 s post-stand. No statistically significant group-level differences were observed based on antihypertensive medication use or frailty status. These findings demonstrate the utility of FDA in detecting subtle, time-dependent physiological variations during orthostatic challenge and underscore the value of continuous neurocardiovascular monitoring in assessing orthostatic tolerance in aging populations. Full article

Background: To evaluate the efficacy and safety of outpatient exercise training in clinically stabilized patients with chronic thromboembolic pulmonary hypertension (CTEPH) after balloon pulmonary angioplasty (BPA). Methods: Twenty-four patients with CTEPH after BPA were enrolled in this prospective single-center study. Patients were assigned to the exercise and control groups. The exercise group comprised 12 patients who received 15 weeks of exercise training, with usual care. The control group received only the usual care, without exercise training. The exercise program included aerobic exercise thrice weekly and resistance exercise once or twice weekly. The assessments employed included a 6-min walk test, cardiopulmonary exercise testing, and an emPHasis-10 questionnaire. Results: In the exercise group, the 6-min walk distance was significantly longer (510.0 [467.5, 595.0] m vs. 425.0 [395.0, 465.0] m, p = 0.020), the time taken to walk 10 m was shorter (6.4 [5.9, 7.5] s vs. 8.9 [8.1, 9.1] s, p = 0.020), and the walking speed was faster (1.6 [1.3, 1.7] m/s vs. 1.1 [1.1, 1.2] m/s, p = 0.020) at 15 weeks compared with the results for the control group. The quality of life tended to improve at 15 weeks compared with that before the exercise training. However, hemodynamics did not change significantly before and after the exercise training, and no fatal arrhythmias or syncope were observed. Conclusions: Exercise training improved gait performance, without any adverse events, in patients with CTEPH after BPA. Therefore, exercise training as an adjunct to medical therapy may be a safe potential therapy for patients with CTEPH after BPA. Full article

Background/Objectives:Pacing treatment of bradyarrhythmias is both to reduce symptoms and to prevent syncope and sudden cardiac death. The aim of our study was to analyze left bundle branch area pacing (LBBAP) in the prevention of new-onset AF and the improvement of echocardiographic parameters in patients with mildly reduced left ventricular ejection fraction (LVEF) compared to patients with bradyarrhythmias but preserved LVEF who underwent mid-septal right ventricular pacing. Methods: This research was structured as a retrospective observational cohort study that included 186 patients with LBBAP and 186 patients with RVP, enrolled for 3 years until March 2024 with a follow-up time of 1 year. The primary endpoint of our study was new-onset atrial fibrillation after pacemaker implantation. The secondary endpoint was the improvement of echocardiographic parameters. Results: We observed in the LBBAP group a mean QRS complex duration of 108.7 ± 8.83 ms (after pacemaker implantation), compared to a much longer duration in the RVP group (143.8 ± 9.851 ms, p = <0.0001). At 1 year of follow-up, 22 (11.82%) patients in the RVP group were diagnosed with new-onset atrial fibrillation, compared to 6 (3.22%) patients out of 186 included in the LBBAP group (p = 0.0017). Regarding LVEF, at follow-up, RVP patients had a decrease in LVEF compared to those in the LBBAP group who had an improved LVEF (54.54 ± 3.77%, p < 0.0001). Conclusions: LBBAP both prevents the onset of atrial fibrillation and improves echocardiographic parameters, especially left ventricular ejection fraction, thus contributing to significantly reducing the risk of developing/worsening advanced heart failure through pacing-induced cardiomyopathy. Full article

Aortic valve stenosis (AS) is a valvular heart disease that imposes a high afterload on the left ventricle (LV) due to restricted opening of the aortic valve, resulting in LV hypertrophy. Severe AS can lead to syncope, angina pectoris, and heart failure. The number of patients with AS has been increasing due to aging populations, the growing prevalence of lifestyle-related diseases, and advances in diagnostic technologies. Therefore, accurate diagnosis and appropriate treatment of AS are essential. In recent years, transcatheter aortic valve implantation (TAVI) has become feasible, and the number of procedures has rapidly increased, particularly among elderly patients. As treatment options for AS expand and diversify, detailed pre-procedural evaluation has become increasingly important. In particular, diagnostic imaging modalities such as computed tomography (CT) have advanced significantly, with notable improvements in image quality. With recent advancements in CT technology—such as increased detector rows, faster gantry rotation speeds, new image reconstruction methods, and the introduction of dual-energy imaging—the scope of cardiac assessment has expanded beyond the coronary arteries to include valves, myocardium, and the entire heart. This includes evaluating restricted AV opening and cardiac function using four-dimensional imaging, assessing AV annulus diameter and AS severity via calcium scoring with a novel motion correction algorithm, and detecting myocardial damage through late-phase contrast imaging using new reconstruction techniques. In cases of pre-TAVI evaluation or congenital bicuspid valves, CT is also valuable for assessing extracardiac structures, such as access routes and associated congenital heart anomalies. In addition, recent advancements in CT technology have made it possible to significantly reduce radiation exposure during cardiac imaging. CT has become an extremely useful tool for comprehensive cardiac evaluation in patients with aortic stenosis, especially those being considered for surgical treatment. Full article

Background/Objectives: Bradycardia, an uncharacteristically low heart rate below 60 bpm, is a commonly reported adverse drug event (ADE) in individuals administered dexmedetomidine for sedation. Dexmedetomidine is frequently used as a sedative and analgesic for both intubated and non-intubated patients due to its low risk of respiratory depression. The purpose of this study was to further characterize the safety profile of dexmedetomidine using safety reports collected from the FDA Adverse Event Reporting System (FAERS) and transcriptomic data. Methods: Association rule mining was used to both identify additional ADEs that presented concurrently with bradycardia in patients sedated with dexmedetomidine, as well as to characterize potential drug–drug interactions (DDIs). Furthermore, public transcriptomic data were analyzed to identify differentially expressed genes that may elucidate the genetic drivers of elevated bradycardia risk in those administered dexmedetomidine. Results: Bradycardia was the most frequently reported ADE for individuals administered dexmedetomidine. Other cardiovascular-related ADEs commonly associated with bradycardia included syncope (lift = 4.711), loss of consciousness (lift = 3.997), cardiac arrest (lift = 2.850), and hypotension (lift = 2.770). Several possible DDIs were identified, including Lactated Ringer’s solution (lift = 5.441), bupivacaine (lift = 2.984), and risperidone (lift = 2.434), which may elevate bradycardia risk. Finally, eight genes related to cardiac muscle contraction were identified as possible regulators of dexmedetomidine-induced bradycardia, including COX5B, COX6A2, COX8B, MYH7, MYH6, MYL2, UQCRQ, and UQCR11 in mouse cardiac cells. Conclusions: Key clinical takeaways include the co-presentation of multiple cardiovascular ADEs, including cardiac arrest, hypotension, and syncope, alongside dexmedetomidine-associated bradycardia. Furthermore, several possible DDIs with dexmedetomidine were also identified. Full article

Background: This paper will identify the potential genetic causes of multimorbidity associated with autosomal dominant congenital cataract (ADCC). Methods: Whole exome sequencing (WES) was performed on 13 individuals affected with ADCC. Subsequent bioinformatic analyses identified variants with deleterious pathogenicity scores. Results: Disease-causing variants were identified in 8 genes already linked to cataract (CHMP4B, CRYAA, CRYBA1, CRYGD, CYP21A2, GJA8, OPA1, and POMGNT1), but variants previously associated with systemic disorders were also found in a further 11 genes (ACTL9, ALDH18A1, CBS, COL4A3, GALT, LRP5, NOD2, PCK2, POMT2, RSPH4A, and SMO). All variants were identified via pipeline data analysis, prioritising rare coding variants using Kaviar and the Genome Aggregation Database. The following ADCC-associated non-ocular phenotypes were identified in four patients in the cohort: (i) Horner’s pupils, vaso-vagal syncope, and paroxysmal orthostatic tachycardia syndrome; (ii) reduced kidney function and high cholesterol; (iii) hypertension, high cholesterol, and kidney stones; and (iv) grade 1 spondylolysis. Conclusions: We report 11 novel genes identified in an ADCC patient cohort associated with systemic disorders found, along with 8 known cataract-causing genes. Our findings broaden the spectrum of potentially cataract-associated genes and their related lens phenotypes, as well as evidence multimorbidities in four patients, highlighting the importance of careful multisystem phenotyping following genetic analysis. Full article

Gitelman syndrome (GS) is a rare autosomal recessive renal tubulopathy characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria due to mutations in the SLC12A3 gene. This case report presents a 54-year-old African American female with near syncope and palpitations. The patient had a history of intermittent palpitations and generalized anxiety disorder and was previously diagnosed with GS. On presentation, the patient exhibited symptoms of severe hypokalemia and hypomagnesemia, attributed to medication non-adherence. Laboratory tests confirmed critically low potassium and magnesium levels, with elevated urine sodium and chloride. Treatment was initiated with oral and intravenous potassium and magnesium, leading to the normalization of electrolyte levels. This case highlights the challenges of managing GS, particularly in patients facing socioeconomic barriers that impede medication adherence and healthcare access. Personalized patient education, combined with comprehensive healthcare resources, is essential to mitigate complications and improve long-term outcomes in such cases. Full article