Search Results (13)

Background/Objectives: Long QT Syndrome type 2 (LQT2) is a cardiac channelopathy linked to pathogenic variants in the KCNH2 gene, which encodes the Kv11.1 potassium channel, essential for cardiac repolarization. Variants affecting splice sites disrupt potassium ion flow, prolong QT interval, and increase the risk of arrhythmias and sudden cardiac death (SCD). Understanding genotype–phenotype correlations is key, given the variability of clinical manifestations even within families sharing the same variant. We aimed to evaluate new pathogenic variants by analyzing genotype–phenotype correlations in informative families. Methods: Genetic and clinical assessments were performed on index cases and family members carrying KCNH2 pathogenic variants, referred for genetic testing between 2010 and June 2023. The next-generation sequencing (NGS) of 210 cardiovascular-related genes was conducted. Clinical data, including demographic details, family history, arrhythmic events, electrocardiographic parameters, and treatments, were collected. Results: Among 390 patients (152 probands) tested for LQTS, only 2 KCNH2 variants had over 5 carriers. The detailed clinical information of 22 carriers of this KCNH2 p.Ser261fs. has already been reported by our research group. Moreover, we identified 12 carriers of the KCNH2 c.77-2del variant, predicted to disrupt a splice site and not previously reported. Segregation analysis showed its high penetrance, supporting its classification as pathogenic. Conclusions: The newly identified KCNH2 c.77-2del variant is a pathogenic, as strongly supported by the segregation analysis. Our findings underscore the importance of further research into splice site variants to enhance clinical management and genetic counseling for affected families. Full article

In systemic sclerosis (SSc), fibrosis of the myocardium along with ongoing autoimmune inflammation can alter the electric function of the cardiac myocytes, which may increase the risk for ventricular arrhythmias and sudden cardiac death. We analyzed the electrocardiographic (ECG) variables describing ventricular repolarization such as QT interval, QT dispersion (QTd), T wave peak-to-end interval (Tpe), and arrhythmogeneity index (AIX) of 26 patients with SSc and 36 healthy controls. Furthermore, echocardiographic and laboratory parameters were examined, with a focus on inflammatory proteins like C-reactive ptotein (CRP), soluble intracellular adhesion molecule-1 (sICAM-1), soluble vascular adhesion molecule-1 (sVCAM-1), and progranulin (PGRN). The CRP, sICAM-1, and sVCAM-1 levels were positively correlated with the length of the QT interval. Although the serum PGRN levels were not increased in the SSc group compared to the controls, in SSc patients, the PGRN levels were positively correlated with the QT interval and the AIX. According to our results, we conclude that there may be a potential association between autoimmune inflammation and the risk for ventricular arrhythmias in patients with SSc. We emphasize that the measurement of laboratory parameters of inflammatory activity including CRP, PGRN, sVCAM-1, and sICAM-1 could be helpful in the prediction of sudden cardiac death in patients with SSc. Full article

Background and Objectives: Smokeless tobacco (ST) use has recently become an alternative to cigarettes, and it has been concluded that ST is at least as harmful as cigarettes. ST use is thought to play a role in the pathogenesis of arrhythmia by affecting ventricular repolarization. In this study, we aimed to examine the relationships of Maras powder (MP), one of the ST varieties, with epicardial fat thickness and new ventricular repolarization parameters, which have not previously been described. Materials and Methods: A total of 289 male individuals were included in this study between April 2022 and December 2022. Three groups, 97 MP users, 97 smokers, and 95 healthy (non-tobacco), were compared according to electrocardiographic and echocardiographic data. Electrocardiograms (ECG) were evaluated with a magnifying glass by two expert cardiologists at a speed of 50 m/s. Epicardial fat thickness (EFT) was measured by echocardiography in the parasternal short- and long-axis images. A model was created with variables that could affect epicardial fat thickness. Results: There were no differences between the groups regarding body mass index (p = 0.672) and age (p = 0.306). The low-density lipoprotein value was higher in the MP user group (p = 0.003). The QT interval was similar between groups. Tp-e (p = 0.022), cTp-e (p = 0.013), Tp-e/QT (p =0.005), and Tp-e/cQT (p = 0.012) were higher in the MP user group. While the Tp-e/QT ratio did not affect EFT, MP predicted the epicardial fat thickness (p < 0.001, B = 0.522, 95%CI 0.272–0.773). Conclusions: Maras powder may play a role in ventricular arrhythmia by affecting EFT and causing an increase in the Tp-e interval. Full article

This study aimed to determine the correlation between body composition (measured as weight, body mass index, and body fat percentage (BFP)) and electrocardiographic ventricular parameters (the QT and TQ intervals and the ratios between the electrical diastole and electrical systole (TQ/QT) and between the cardiac cycle and electrical diastole (RR/TQ), both for uncorrected and corrected intervals) in a sample of 50 healthy subjects (age interval 19–23 years, mean age 21.27 ± 1.41 years, 33 women and 17 men). Subjects’ measurements were performed with a bioimpedancemetry body composition analyzer and a portable ECG monitor with six leads. Starting from the correlations obtained between the investigated continuous variables, we performed a standard linear regression analysis between the body composition parameters and the ECG ones. Our results revealed that some of our regression models are statistically significant (p < 0.001). Thus, a specific part of the variability of the dependent variables (ECG ventricular activity parameters for corrected QT intervals) is explained by the independent variable BFP. Therefore, body composition influences ventricular electrical activity in young adults, which implies a differentiated interpretation of the electrocardiogram in these situations. Full article

The impact of glucose and fructose supplementation on acute cardiac effects during cardiopulmonary exercise testing (CPET) is a topic that is rarely investigated. The aim of the presented secondary outcome analysis of a double-blind, randomized crossover-controlled trial was to investigate the impact of glucose (Glu), fructose (Fru), glucose and fructose (GluFru), and sucralose on electrocardiogram (ECG), heart rate variability (HRV), premature ventricular complexes (PVCs), and heart rate turn points (HRTP) during CPET. Fourteen healthy individuals (age 25.4 ± 2.5 years, body mass index (BMI) 23.7 ± 1.7 kg/m², body mass (BM) of 76.3 ± 12.3 kg) participated in this study, of which 12 were included for analysis. Participants received 1 g/kg BM of Glu, 1 g/kg BM of Fru, 0.5 g/kg BM of GluFru (each), and 0.2 g sucralose dissolved in 300 mL 30 min prior to each exercise session. No relevant clinical pathology or significant inter-individual differences between our participants could be revealed for baseline ECG parameters, such as heart rate (HR) (mean HR 70 ± 16 bpm), PQ interval (146 ± 20 ms), QRS interval (87 ± 16 ms) and the QT (405 ± 39 ms), and QTc interval (431 ± 15 ms). We found preserved cardiac autonomic function by analyzing the acute effects of different Glu, Fru, GluFru, or sucralose supplementation on cardiac autonomic function by Schellong-1 testing. SDNN and RMSSD revealed normal sympathetic and parasympathetic activities displaying a balanced system of cardiac autonomic regulation across our participating subjects with no impact on the metabolism. During CPET performance analyses, HRV values did not indicate significant changes between the ingested drinks within the different time points. Comparing the HRTP of the CPET with endurance testing by variable metabolic conditions, no significant differences were found between the HRTP of the CPET data (170 ± 12 bpm), Glu (171 ± 10 bpm), Fru (171 ± 9 bpm), GluFru (172 ± 9 bpm), and sucralose (170 ± 8 bpm) (p = 0.83). Additionally, the obtained time to reach HRTP did not significantly differ between Glu (202 ± 75 s), Fru (190 ± 88 s), GluFru (210 ± 89 s), and sucralose (190 ± 34 s) (p = 0.59). The significance of this study lies in evaluating the varying metabolic conditions on cardiac autonomic modulation in young healthy individuals. In contrast, our participants showed comparable cardiac autonomic responses determined by ECG and CPET. Full article

Background: Polycystic ovary syndrome (PCOS) is a heterogeneous disorder in which clinical, sonographic, and endophenotypic features have been underinvestigated or inconclusive, especially in the early stages of the disease (adolescence/young adulthood). Objective: This prospective pilot study focused on the differences of multiple physiological functions between Greek adolescent/young adult females suffering from PCOS and age- and body mass index (BMI)- matched healthy controls. Study design: Nineteen PCOS patients and eighteen healthy controls (aged 13 to 23 years) were studied for: (i) biochemical and hormonal dysfunction by measuring circulating glucose, insulin, and androgen levels; (ii) arterial stiffness with pulse wave analysis (PWA) by Sphygmocord; (iii) intima-media thickness (IMT) by ultrasound; (iv) heart rate variability (HRV) by Task Force Monitor; and (v) QT, QRS, QT, P, QRSD by electrocardiogram (ECG). Statistical analysis included Hedge’s g correction for small samples bias, and the results are shown using the Hedge’s g effect size and 95% CI, in line with precision medicine prerequisites. Results: Significant differences in pulse wave velocity (PWV) (g = 0.964 [0.296, 1.632]), subendocardial viability ratio (SEVR) carotid (g = −0.679 [−1.329, −0.030]), pulse pressure (PP) carotid (g = 0.942 [0.275, 1.608]), systolic pressure (SP) carotid (g = 0.785 [0.129, 1.440]), free-testosterone (g = 0.677 [0.042, 0.312]), and Delta4-androstenedione (g = 0.735 [0.097, 0.373]) were observed between PCOS patients and controls. No differences were detected in the remaining endocrine and PWA or ECG biomarkers. Conclusions: Our multidisciplinary approach showed early onset of vascular dysfunction, predisposition to hypertension, thermoregulation delays, and metabolic syndrome changes in adolescent/young adult PCOS. Full article

Objectives: Increased triglyceride glucose (TyG) index appears to be linked to carotid and coronary atherosclerosis and calcifications and possesses an elevated future risk of developing cardiovascular disease. Corrected QT (QTc) interval prolongation is associated with ventricular arrhythmias and sudden cardiac death, and a high prevalence of prolonged QTc interval was previously reported in blue-collar workers. The purpose of this study was to find the possible causal inter-relationship between TyG index and QTc interval in a large population of Chinese male steelworkers. Methods: A total of 3189 male workers from two steel plants were enrolled. They responded to a cross-sectional questionnaire on basic attributes and lifestyle, including sleep patterns. All workers in the two plants underwent periodic health checkups, including twelve-lead electrocardiography. Structural equation modeling (SEM) was used to assess the direct and indirect effects of TyG index on QTc interval. Results: With increasing TyG index tertile, the male steelworkers had an increased QTc interval. Applying multivariate analysis, TyG index was associated independently with the odds of QTc prolongation (adjusted odds ratio = 2.73, 95% confidence interval = 1.39–5.24, p = 0.004). SEM revealed that TyG index, hypertension, obesity, lifestyle, white blood cell (WBC) count, and liver function had statistically significant direct effects on QTc interval. Furthermore, TyG index also had an indirect effect on QTc interval through hypertension, obesity, WBC count, and liver function. Moreover, lifestyle had an indirect effect on QTc interval through TyG index. The final model explained 14% of the variability in QTc interval. Conclusions: An increased TyG index was associated with QTc interval prolongation in this study, and SEM delineated possible causal pathways and inter-relationships of the risk factors contributing to the occurrence of QTc prolongation among Chinese male steelworkers. Full article

QT interval variability, mostly expressed by QT variability index (QTVi), has repeatedly been used in risk diagnostics. Physiologic correlates of QT variability expressions have been little researched especially when measured in short 10-second electrocardiograms (ECGs). This study investigated different QT variability indices, including QTVi and the standard deviation of QT interval durations (SDQT) in 657,287 10-second ECGs recorded in 523 healthy subjects (259 females). The indices were related to the underlying heart rate and to the 10-second standard deviation of RR intervals (SDRR). The analyses showed that both QTVi and SDQT (as well as other QT variability indices) were highly statistically significantly (p < 0.00001) influenced by heart rate and that QTVi showed poor intra-subject reproducibility (coefficient of variance approaching 200%). Furthermore, sequential analysis of regression variance showed that SDQT was more strongly related to the underlying heart rate than to SDRR, and that QTVi was influenced by the underlying heart rate and SDRR more strongly than by SDQT (p < 0.00001 for these comparisons of regression dependency). The study concludes that instead of QTVi, simpler expressions of QT interval variability, such as SDQT, appear preferable for future applications especially if multivariable combination with the underlying heart rate is used. Full article

Background: Traumatic brain injury (TBI) is commonly associated with cardiac dysfunction, which may be reflected by abnormal electrocardiograms (ECG) and/or contractility. TBI-related cardiac disorders depend on the type of cerebral injury, the region of brain damage and the severity of the intracranial hypertension. Decompressive craniectomy (DC) is commonly used to reduce intra-cranial hypertension (ICH). Although DC decreases ICH rapidly, its effect on ECG has not been systematically studied. The aim of this study was to analyze the changes in ECG in patients undergoing DC. Methods: Adult patients without previously known cardiac diseases treated for isolated TBI with DC were studied. ECG variables, such as: spatial QRS-T angle (spQRS-T), corrected QT interval (QTc), QRS and T axes (QRS_ax and T_ax, respectively), STJ segment and the index of cardio-electrophysiological balance (iCEB) were analyzed before DC and at 12–24 h after DC. Changes in ECG were analyzed according to the occurrence of cardiac arrhythmias and 28-day mortality. Results: 48 patients (17 female and 31 male) aged 18–64 were studied. Intra-cranial pressure correlated with QTc before DC (p < 0.01, r = 0.49). DC reduced spQRS-T (p < 0.001) and QTc interval (p < 0.01), increased Tax (p < 0.01) and changed STJ in a majority of leads but did not affect QRS_ax and iCEB. The iCEB was relatively increased before DC in patients who eventually experienced cardiac arrhythmias after DC (p < 0.05). Higher post-DC iCEB was also noted in non-survivors (p < 0.05), although iCEB values were notably heart rate-dependent. Conclusions: ICP positively correlates with QTc interval in patients with isolated TBI, and DC for relief of ICH reduces QTc and spQRS-T. However, DC might also increase risk for life-threatening cardiac arrhythmias, especially in ICH patients with notably prolonged QTc before and increased iCEB after DC. Full article

Intermittent haemodialysis (IHD) is used in dogs with chronic kidney disease (CKD) to reduce azotaemia. Monitoring the cardiovascular system plays an important role in this treatment to detect cardiovascular repercussions. Heart rate variability (HRV) and dispersions of the QT interval and P wave are important markers for mortality risk in humans. This study aimed to describe the time-domain and frequency-domain heart rate variability indexes, P and QT dispersions and electrocardiographic alterations observed in dogs with Stage IV CKD undergoing IHD. Thirty dogs of both sexes, of varying ages and breeds, and weighing between 15 and 30 kg were used. Animals were divided into three groups, control (10 healthy dogs), clinical treatment (10 dogs with CKD IV submitted to clinical treatment twice a week) and IHD (10 dogs with CKD IV submitted to clinical treatment and to dialysis treatment with intermittent haemodialysis twice a week). Clinical, laboratory, HRV indexes and electrocardiographic parameters, as well as QT and P-wave dispersions, were assessed in both CKD groups, prior to and after the end of each clinical treatment/IHD session during the first three sessions. Dogs with CKD IV undergoing IHD had clinically important electrolyte imbalances, primarily hypokalaemia, and pertinent electrocardiographic findings, such as the occurrence of supraventricular arrhythmias and increases in possible predictive parameters for arrhythmias. In spite of these observations, HRV indexes were better in animals undergoing haemodialysis and, in addition, IHD was more effective at reducing levels of creatinine, urea and phosphorus compared to intravenous fluid therapy treatment. Full article

Background and Objectives: Electrocardiographic (ECG) markers of the temporal dispersion of the myocardial repolarization phase have been shown able to identify chronic heart failure (CHF) patients at high mortality risk. The present prospective single-center study sought to investigate in a well-characterized cohort of decompensated heart failure (HF) patients the ability of short-term myocardial temporal dispersion ECG variables in predicting the 30-day mortality, as well as their relationship with N-terminal Pro Brain Natriuretic Peptide (NT-proBNP) plasmatic values. Method: One hundred and thirteen subjects (male: 59, 67.8%) with decompensated CHF underwent 5 min of ECG recording, via a mobile phone. We obtained QT end (QTe), QT peak (QTp) and T peak to T end (Te) and calculated the mean, standard deviation (SD), and normalized index (VN). Results: Death occurred for 27 subjects (24%) within 30 days after admission. Most of the repolarization indexes (QTe mean (p < 0.05), QTe_SD (p < 0.01), QTp_SD (p < 0.05), mean Te (p < 0.05), Te_SD (p < 0.001) QTeVN (p < 0.05) and TeVN (p < 0.01)) were significantly higher in those CHF patients with the highest NT-proBNP (>75th percentile). In all the ECG data, only Te_SD was significantly and positively related to the NT-proBNP levels (r: 0.471; p < 0.001). In the receiver operating characteristic (ROC) analysis, the highest accuracy for 30-day mortality was found for QTe_SD (area under curve, AUC: 0.705, p < 0.01) and mean Te (AUC: 0.680, p < 0.01), whereas for the NT-proBNP values higher than the 75th percentile, the highest accuracy was found for Te_SD (AUC: 0.736, p < 0.001) and QTe_SD (AUC: 0.696, p < 0.01). Conclusion: Both mean Te and Te_SD could be considered as reliable markers of worsening HF and of 30-day mortality. Although larger and possibly interventional studies are needed to confirm our preliminary finding, these non-invasive and transmissible ECG parameters could be helpful in the remote monitoring of advanced HF patients and, possibly, in their clinical management. (ClinicalTrials.gov number, NCT04127162). Full article

In the context of global urbanization, urban flood risk in many cities has become a serious environmental issue, threatening the health of residents and the environment. A number of hydrological studies have linked urban flooding issues closely to the spectrum of spatial patterns of urbanization, but relatively little attention has been given to small-scale catchments within the realm of urban systems. This study aims to explore the hydrological effects of small-scaled urbanized catchments assigned with various landscape patterns. Twelve typical residential catchments in Beijing were selected as the study areas. Total Impervious Area (TIA), Directly Connected Impervious Area (DCIA), and a drainage index were used as the catchment spatial metrics. Three scenarios were designed as different spatial arrangement of catchment imperviousness. Runoff variables including total and peak runoff depth (Q_t and Q_p) were simulated by using Strom Water Management Model (SWMM). The relationship between catchment spatial patterns and runoff variables were determined, and the results demonstrated that, spatial patterns have inherent influences on flood risks in small urbanized catchments. Specifically: (1) imperviousness acts as an effective indicator in affecting both Q_t and Q_p; (2) reducing the number of rainwater inlets appropriately will benefit the catchment peak flow mitigation; (3) different spatial concentrations of impervious surfaces have inherent influences on Q_p. These findings provide insights into the role of urban spatial patterns in driving rainfall-runoff processes in small urbanized catchments, which is essential for urban planning and flood management. Full article

Entropy-based complexity of cardiovascular variability at short time scales is largely dependent on the noise and/or action of neural circuits operating at high frequencies. This study proposes a technique for canceling fast variations from cardiovascular variability, thus limiting the effect of these overwhelming influences on entropy-based complexity. The low-pass filtering approach is based on the computation of the fastest intrinsic mode function via empirical mode decomposition (EMD) and its subtraction from the original variability. Sample entropy was exploited to estimate complexity. The procedure was applied to heart period (HP) and QT (interval from Q-wave onset to T-wave end) variability derived from 24-hour Holter recordings in 14 non-mutation carriers (NMCs) and 34 mutation carriers (MCs) subdivided into 11 asymptomatic MCs (AMCs) and 23 symptomatic MCs (SMCs). All individuals belonged to the same family developing long QT syndrome type 1 (LQT1) via KCNQ1-A341V mutation. We found that complexity indexes computed over EMD-filtered QT variability differentiated AMCs from NMCs and detected the effect of beta-blocker therapy, while complexity indexes calculated over EMD-filtered HP variability separated AMCs from SMCs. The EMD-based filtering method enhanced features of the cardiovascular control that otherwise would have remained hidden by the dominant presence of noise and/or fast physiological variations, thus improving classification in LQT1. Full article