Frontiers in Cardiovascular Medicine最新文献

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac disease and a leading cause of sudden cardiac death (SCD) in young adults and athletes. It exhibits marked clinical variability, which may be influenced by genetic background and environmental factors. Although MYBPC3 is the most frequently implicated gene, data from Latin American and admixed populations remain scarce. In this study, we describe three unrelated Ecuadorian patients with clinically diagnosed HCM who harbored MYBPC3 variants. Two patients carried likely pathogenic mutations (p.Glu258Lys and p.His875Profs*8), while novel missense variants (p.Ala536Pro and p.Thr274Met) were identified as variants of uncertain significance (VUS). Additional variants were detected in TTN, MYLK2, RYR1, SDHA, APOB, and JPH2, but given their classification as VUS or a lack of association with HCM, they are described only as incidental findings. An ancestry analysis revealed heterogeneous contributions of Native American, European, and African backgrounds, reflecting the admixed composition of the Ecuadorian population. This case series underscores the phenotypic heterogeneity of HCM, even among patients with MYBPC3 variants, and highlights the importance of genomic testing in underrepresented populations to improve diagnosis, family screening, and SCD risk stratification.

Objective: To enhance understanding of the diagnosis and management of dual tachycardia in infant.

Methods: A retrospective analysis was conducted on the clinical data and management of a infant with dual tachycardia. A review of the relevant literature was also performed.

Results: A female infant, born 43 min, was transferred to our hospital's NICU via emergency transfer due to "tachycardia lasting over half an hour after premature birth." To better understand the supraventricular tachycardia an esophageal electrode was inserted, the esophageal electrocardiogram confirmed the diagnosis of dual tachycardia (persistent atrial tachycardia combined with short episodes of ventricular tachycardia).

Conclusion: This case provides valuable insight into the diagnosis and management of dual tachycardia in infant. For patients presenting with tachycardia, esophageal electrocardiogram is crucial.

Background: Surgical strategies for congenital aortic stenosis and regurgitation in children, particularly in infants (<1 year), remain controversial. Aortic valvuloplasty (AVP) with pericardial patch has gained increasing attention, but its durability and clinical benefits remain uncertain.

Methods: We retrospectively analyzed pediatric patients (≤12 years) undergoing AVP with pericardial patch in our center between July 2017 and July 2025. Infants (<1 year) were analyzed separately as subgroups. Primary outcome was the change in aortic valve hemodynamics, including median peak gradient, median peak velocity, and degree of aortic regurgitation. Secondary outcomes included major complications, overall survival, and freedom from reoperation.

Results: A total of 35 patients were included, with a median age of 2 years. Among them, 17 were infants, with a median age of 2 months. The median peak aortic valve gradient decreased from 67.0 mmHg to 33.0 mmHg (p < 0.001), and the median peak velocity decreased from 4.1 m/s to 2.9 m/s (p < 0.001), postoperatively. No new moderate or severe aortic regurgitation was observed early postoperatively, and preexisting lesions of this severity were resolved. There were no in-hospital deaths or severe complications. At four years, survival was 96% and freedom from reoperation 75.4% in the overall cohort; in infants, survival was 100% with 66.7% freedom from reoperation.

Conclusions: AVP with pericardium patch is a safe and effective procedure for congenital aortic stenosis and regurgitation in pediatric patients. It represents a promising surgical option for pediatric patients, including infants.

Objective: Several modifiable healthy lifestyle factors have been demonstrated to exert an effect of blood pressure lowering. However, there remains limited evidence regarding the association between healthy lifestyle scores (HLS) and hypertension, particularly within the Chinese population. The present prospective cohort study was designed to systematically investigate the relationships between HLS, their long-term dynamic changes, and the incident risk of hypertension.

Methods: A total of 3,743 participants aged ≥18 years who were free of hypertension at baseline were included in the study and followed up prospectively. The HLS was calculated based on the number of healthy lifestyle factors. The Cox proportional hazards regression model was employed to estimate hazard ratios (HRs) and corresponding 95% confidence intervals (95% CIs) for evaluating the associations between HLS, their long-term changes, and the risk of incident hypertension. In addition, a quantile regression (QR) approach was applied to assess the associations of HLS with blood pressure levels.

Results: During a median follow-up period of 6.46 years, 857 cases of hypertension were identified. The HLS was significantly associated with a reduced risk of hypertension, with a 14% risk reduction observed (HR: 0.86, 95% CI: 0.80-0.92). Compared with the low HLS group (0-3), the HRs (95% CIs) for incident hypertension were 0.80 (95% CI: 0.66-0.97), 0.78 (95% CI: 0.64-0.95), and 0.61 (95% CI: 0.49-0.75) for the HLS groups with 4, 5, and ≥6, respectively (P for trend <0.001). In comparison with participants maintaining a HLS of 0-3, those maintaining a HLS of 4 (HR: 0.60, 95% CI: 0.43-0.85), 5 (HR: 0.47, 95% CI: 0.32-0.69), and ≥6 (HR: 0.34, 95% CI: 0.23-0.51) exhibited a significantly lower risk of incident hypertension (P for trend <0.001). QR showed a significant negative association between HLS and blood pressure levels.

Conclusion: As the HLS increased, the risk of hypertension showed a gradual downward trend. Furthermore, long-term maintenance of a high HLS was associated with a reduced risk of hypertension. Our findings provide additional evidence from China supporting the necessity of sustaining healthy lifestyles across the life course.

Objective: Despite advances in cardiovascular surgery, access to specialized care remains limited in low-resource regions. Telemedicine, which expanded significantly during the COVID-19 pandemic, offers a strategy to mitigate these disparities. The National Teleconference Platform (TAC) was developed to provide real-time, multidisciplinary telementoring for pediatric congenital heart surgery in remote areas.

Methods: This prospective, multicenter study assessed the feasibility, usability, and effectiveness of the TAC platform. The system integrated videoconferencing with Internet of Things (IoT) technologies, enabling synchronous audiovisual communication, real-time monitoring of surgical equipment, and interactive mentorship. Three Brazilian centers from the North, Northeast, and Southeast regions participated. Telementoring encompassed the entire surgical workflow, from anesthesia induction to postoperative debriefing, with data security compliant with national and international standards.

Results: Between November 2022 and March 2025, 50 pediatric cardiac procedures were performed with complete telementoring in 93% of cases, and no technical failures occurred. Each operating room incorporated seven connected devices. User evaluations revealed high satisfaction: 76% of surgical teams reported increased confidence, 92% preserved autonomy throughout procedures, and all participants highlighted the substantial educational value of the platform.

Conclusion: The TAC platform is feasible, effective, and well-accepted for providing multidisciplinary surgical guidance. It optimizes procedural performance, enhances surgical care, and demonstrates significant potential to expand access to specialized healthcare in resource-limited settings.

Background: Early identification of hemodynamic deterioration in cardiovascular intensive care unit (ICU) patients is critical for improving clinical outcomes. Traditional monitoring approaches and scoring systems often fail to capture dynamic multidimensional physiological changes, and existing machine learning models frequently lack robust external validation across diverse healthcare systems.

Methods: We employed a retrospective multi-center cohort design to develop machine learning prediction models using the MIMIC-IV database (46,007 admissions) and the eICU database (50,949 admissions). To rigorously assess model robustness and generalizability, a novel bidirectional cross-validation framework was implemented: models were trained on MIMIC data and validated on eICU data, and conversely, trained on eICU data and validated on MIMIC data. The study defined a strict composite outcome comprising hemodynamic instability, tissue hypoperfusion, and confirmed cardiac etiology. Multiple machine learning algorithms were evaluated to identify the optimal classifier.

Results: The Random Forest model was selected as the optimal classifier. Bidirectional validation demonstrated exceptional cross-database generalizability: the MIMIC-trained model achieved an Area Under the Receiver Operating Characteristic (AUROC) of 0.841 on the eICU cohort, while the eICU-trained model achieved an AUROC of 0.852 on the MIMIC cohort, with performance degradation controlled within a minimal range (<4%). DeLong tests confirmed that the model significantly outperformed traditional clinical scores, including SOFA (AUROC 0.681) and APACHE II (AUROC 0.747). The five-level risk stratification system exhibited a strict monotonic increase in mortality rates, ranging from 0.8% in the very low-risk group to 84.2% in the very high-risk group. SHAP analysis identified hemoglobin, history of acute myocardial infarction, and creatinine as the most significant predictors.

Conclusions: We successfully developed and validated a machine learning-based early warning system for hemodynamic deterioration in cardiovascular ICU patients. The bidirectional cross-validation approach provides robust evidence for model generalizability, while the multi-level risk stratification system and SHAP-based interpretability offer practical clinical decision support. This system demonstrates significant potential to enhance early identification rates, improve patient outcomes, and optimize healthcare resource utilization efficiency.

Background: Peak oxygen consumption (VO₂) is a key determinant of heart transplant eligibility in advanced heart failure (HF), reflecting integrated cardiopulmonary performance and long-term prognosis. We aimed to evaluate the association between the tricuspid annular plane systolic excursion to pulmonary artery systolic pressure (TAPSE/PASP) ratio-a non-invasive marker of right ventricular-pulmonary arterial (RV-PA) coupling-and exercise capacity, as measured by peak VO₂, in heart transplant candidates.

Methods: We retrospectively analyzed 384 consecutive patients with advanced HF listed for heart transplantation between 2021 and 2023. All underwent transthoracic echocardiography, cardiopulmonary exercise testing (CPET), and right heart catheterization (RHC). Patients with LVEF >25%, severe pulmonary disease, or contraindications to CPET/RHC were excluded. Participants were stratified into tertiles by TAPSE/PASP ratio. A directed acyclic graph (DAG) guided confounder selection for multivariable linear regression assessing the association between TAPSE/PASP and peak VO₂. Cox proportional hazards models evaluated the relationship between TAPSE/PASP and a composite endpoint of death, left ventricular assist device implantation, or transplantation.

Results: The mean age of the patients was 50 ± 11 years; 14% were female. Higher TAPSE/PASP tertiles were associated with longer exercise duration, higher peak VO₂, and better ventilatory efficiency. In adjusted regression analysis, TAPSE/PASP was strongly associated with peak VO₂ (effect size: 6.7; 95% CI: 5.1-8.4; p < 0.001). Over a median follow-up of 865 days, higher TAPSE/PASP was independently associated with lower event rates, with an adjusted hazard ratio of 0.78 (95% CI: 0.68-0.90; p < 0.001) per 0.1-unit increase in TAPSE/PASP.

Conclusion: TAPSE/PASP, beyond its role as a surrogate of RV function, is strongly associated with exercise capacity and, in secondary analyses, with long-term outcomes in advanced HF. Incorporating TAPSE/PASP into transplant evaluation protocols may enhance risk stratification and help identify patients who require closer monitoring and tailored management.

Background: Vasovagal syncope (VVS) is the most common type of reflex syncope. Although typically benign in its clinical course, VVS may lead to injury and reduced quality of life. Autonomic nervous system imbalance is considered the core pathophysiological mechanism of VVS. Heart rate variability (HRV), a noninvasive marker of autonomic regulation, may have practical value in identifying VVS and its subtypes; however, its predictive utility has not been fully elucidated.

Methods: In this single-center retrospective case-control study, we included 415 patients with syncope symptoms who underwent both 24-hour Holter monitoring and a head-up tilt test (HUTT) between January 2021 and December 2024. Based on HUTT results, patients were classified into a VVS-positive group (n = 279) and a control group (n = 136). HRV parameters extracted from Holter recordings included 24 h average, maximum and minimum heart rates (HRs), standard deviation of NN intervals (SDNN), triangular index (TI), root mean square of successive differences (rMSSD), and the percentage of NN intervals differing by more than 50 ms (pNN50). Associations and predictive performance were assessed using logistic regression and receiver operating characteristic (ROC) analysis.

Results: Multivariable logistic regression revealed that 24 h average HRs (OR: 0.935; 95% CI: 0.912-0.959; P < 0.001), 24 h maximum HRs (OR: 0.976; 95% CI: 0.964-0.989; P < 0.001), 24 h minimum HRs (OR: 0.947; 95% CI: 0.915-0.980; P = 0.002), TI (OR: 1.032; 95% CI: 1.009-1.056; P = 0.006), SDNN (OR: 1.029; 95% CI: 1.016-1.043; P < 0.001), rMSSD (OR: 1.023; 95% CI: 1.007-1.038; P = 0.004), and pNN50 (OR: 1.028; 95% CI: 1.006-1.051; P = 0.013) were independently associated with the occurrence of VVS. ROC analysis showed that 24 h average HRs (AUC: 0.688; 95% CI: 0.632-0.744), 24 h maximum HRs (AUC: 0.652; 95% CI: 0.594-0.709), and SDNN (AUC: 0.614; 95% CI: 0.557-0.672) exhibited moderate predictive ability for VVS.

Conclusion: HRV parameters are associated with the occurrence of VVS. As a noninvasive and continuous physiological biomarker, HRV may aid in the clinical screening, risk stratification, and phenotypic classification of patients with suspected VVS.

Objective: To develop an AI-based predictive model for acute respiratory distress syndrome (ARDS) following cardiopulmonary bypass (CPB)-assisted heart valve replacement (HVR) to enable early identification of high-risk patients.

Methods: We retrospectively analyzed 400 patients who underwent CPB-assisted HVR between January 2023 and February 2025. After data preprocessing and feature selection, the dataset was split into training (n = 280) and test (n = 120) sets. Multiple machine learning models were developed and optimized, with XGBoost emerging as the optimal model based on training performance.

Results: Among 400 patients, 56 (14%) developed ARDS postoperatively. Key predictors included Age, absolute monocyte count,right atrial transverse diameter, intraoperative blood loss, platelet count, main pulmonary artery diameter. The XGBoost model achieved excellent performance with an AUC of 0.853 and demonstrated good calibration (HL test p > 0.05).

Conclusion: The XGBoost model accurately predicts ARDS risk following CPB-assisted HVR using six clinically relevant predictors, providing a valuable tool for early risk stratification and potential intervention in high-risk patients.

Background: Aortic arch aneurysms involving branch vessels traditionally require open surgery with cardiopulmonary bypass, which poses prohibitive risks for octogenarians with complex comorbidities. This case demonstrates the successful application of total endovascular aortic repair (TEVAR) with three dimensional (3D) printing-assisted triple-vessel in situ fenestration and a diameter-restricting technique in an 85-year-old patient with a giant (9.0 cm) aortic arch aneurysm involving the left subclavian artery.

Case presentation: The involvement of the three arch branches (brachiocephalic trunk, left common carotid artery, and left subclavian artery) necessitated precise revascularization. In comparison with traditional in situ fenestration, 3D printing-guided ex vivo fenestration enabled pre-release stent modeling on a 1:1 aortic arch replica (error <1 mm), allowing anatomically tailored fenestration positioning and eliminating blind puncture-related complications. A proximal stent diameter-restricting technique addressed the challenging anchoring zone gradient (33.6 → 27.3 mm), improving stent apposition and reducing type I endoleak risk. Intraoperative multiaccess reconstruction (femoral/axillary/cervical approach) achieved complete aneurysm exclusion. Postoperative computed tomography angiography on day 4 confirmed patent branches and absence of endoleaks, while 6-month follow-up demonstrated stable stent position and no neurological complications.

Conclusion: This case highlights that TEVAR with 3D printing-assisted ex vivo fenestration and a diameter-restricting technique can serve as a viable alternative to open surgery for high-risk octogenarians with complex aortic arch aneurysms, overcoming traditional limitations of in situ fenestration while preserving cerebral perfusion. Further studies are warranted to validate this approach in larger populations.