Ventricular Septal Defect Patients Research Articles

Device Closure of Ventricular Septal Defect: A Retrospective Study at Pediatric Cardiac Unit, Pediatrics Hospital, Ain Shams University

Abstract Background The ventricular septal defect (VSD) accounts for 20% of all isolated congenital heart conditions. Nowadays, transcatheter closure is considered a feasible method of therapy for different types of VSDs. Objective To do a statistical analysis of VSD patients' data who underwent interventional cardiac catheterization to evaluate safety and outcome of transcatheter closure of VSDs. Methods This retrospective cohort study included review of files of 35 patients with VSDs who underwent interventional cardiac catheterization at the Pediatric Cardiac Catheterization Unit, Children’s Hospital, Ain Shams University during the period from first of January 2018 to the end of January 2021.Data were extracted from patients’ medical records, either through medical history, physical examination, pre- and post-intervention investigations, or procedural data. Results In our study, 35 VSD cases had attempts for device closure. Perimembranous VSD was present in 19 cases (54.3%), muscular VSD was present in 12 cases (34.3%), and basal muscular VSD was present in 4 cases (11.4%). Amplatzer Duct Occlude II (ADOII) was used in 17 patients (48.6%), a Muscular Amplatzer VSD device was used in 8 patients (22.9%), a PDA device was used in 8 patients (22.9%), and Amplatzer Duct Occlude I (ADOI) was attempted in 2 patients (5.7%). The most common complications in our study group were minor ones, such as mild tricuspid regurgitation, which occurred in 5 patients (14.3%), hemolysis, and blood transfusion in 1 patient (2.9%). There were no major complications such as aortic regurgitation, heart block, residual VSD, arrhythmia, device embolization, thrombus or clot at the device site, or hemolysis requiring surgical removal of the device. There was also no mortality in the study group. There was a statistically significant increase in the percentage of ADOI devices in complicated patients compared with non-complicated patients (p-value = 0.001), while no statistically significant difference was found between the two groups regarding the percentages of PDA, ADOII, and Muscular Amplatzer devices. The VSDs of all 35 patients were effectively closed, achieving a success rate 100%. Conclusion transcatheter closure is a safe and practical technique for VSDs with different morphologies. The outcomes of transatheter closure of VSDs done in our relatively new center were satisfactory and approximated to results of other international pediatric cardiac catheterization centers as regards complications, mortality, and success rate.

Effect of phosphodiesterase type 5 inhibitors on surgical outcome of ventricular septal defect and pulmonary hypertension patients

BackgroundChildren with ventricular septal defect (VSD) and large systemic-to-pulmonary shunts eventually develop pulmonary hypertension (PH). The perioperative management of patients with VSD and PH is quite troublesome and still debatable, especially in developing countries where the different management options and standardization of treatment is not available. Oral phosphodiesterase type 5 (PDE-5) inhibitors are good treatment options being widely available, cheap, easy administration and do not require extensive monitoring. The aim of our study was to evaluate the effect of the PDE-5 inhibitors when given orally, early preoperative and continued for 3 months postoperative on controlling postoperative PH with its effect on right ventricle (RV) functions. Fifty-one patients were randomly assigned to either sildenafil or tadalafil, 1 week before and continued for 3 months after corrective surgery. The control group received a placebo.ResultsThere was no significant difference in the improvement in the right ventricle systolic pressure (RVSP) between both groups, early in the postoperative period (P = 0.255) and in follow-up (P = 0.259). There was also no significant difference in the changes in mean pulmonary artery pressure (mPAP), postoperatively and on follow-up (P = 0.788 and 0.059, respectively). There was a drop in RV functions in both groups postoperatively which improved on follow-up; however, it was not significant between both groups. The length of intensive care unit (ICU) stay was similar between both groups (P = 0.143).ConclusionPerioperative administration of PDE-5 inhibitors does not have an impact on the clinical course as regards improvement in pulmonary artery (PA) pressure, ventricular functions and ICU stay.

Satisfaction levels experienced by Ventricular Septal Defect patients aged 18-30 years-old at Ribat University Hospital in regards to their doctor's communication skills between November 2021 and December 2021

Satisfaction levels experienced by Ventricular Septal Defect patients aged 18-30 years-old at Ribat University Hospital in regards to their doctor's communication skills between November 2021 and December 2021

Clinical Presentation, Echocardiographic Findings, Treatment Options Available for Ventricular Septal Defect in Children: A Study in a Tertiary Care Military Hospital

Introduction: Ventricular Septal Defect (VSD) is the most common congenital heart defects. Early diagnosis, appropriate treatment and transcatheter VSD closure with newer devices in favorable cases, decrease the need for surgical interventions and mortality. Objectives: To determine the clinical presentation, echocardiographic findings and the treatment options available for VSD in Paediatric Cardiology Department, Combined Military Hospital (CMH) Dhaka. Methods: It was a cross sectional observational study carried out in the department of Paediatric Cardiology, CMH Dhaka. Forty six isolated ventricular septal defect cases were diagnosed by echocardiography. Clinical features, echocardiographic findings and treatment options of all 46 cases were observed and recorded in pre formed data sheet and statistical analysis was done in statistical software SPSS version 25. Results: Among the 46 patients of VSD, majority 20(43.48%) were in age group 0-6 months. Most of them were male 24(52%). Common presenting features were dyspnea on exertion 23(50%), cough 30(65.20%), head sweating 23(50%), and feeding problem in 34(73.91%). VSD in 27(58.6%) patients were <5mm, 15(32.6%) were 5-10mm and 4(8.7%) had size >10mm. Most of the VSDs were perimembranous 31(67.39%). Among the 46 cases medical management was given to 20(43.5%), device closure was done in 10(21.7%) patients and surgical interventions done in 16(34.8 %) patients. Conclusion: Most of the VSD patients presented at an earlier age some of them were undergone device closure and some require surgical interventions that were not suitable for device closure. Patients those presented lately developed pulmonary hypertension. JAFMC Bangladesh. Vol 19, No 1 (June) 2023: 22-26

Explanatory deep learning to predict elevated pulmonary artery pressure in children with ventricular septal defects using standard chest x-rays: a novel approach.

Early risk assessment of pulmonary arterial hypertension (PAH) in patients with congenital heart disease (CHD) is crucial to ensure timely treatment. We hypothesize that applying artificial intelligence (AI) to chest x-rays (CXRs) could identify the future risk of PAH in patients with ventricular septal defect (VSD). A total of 831 VSD patients (161 PAH-VSD, 670 nonPAH-VSD) was retrospectively included. A residual neural networks (ResNet) was trained for classify VSD patients with different outcomes based on chest radiographs. The endpoint of this study was the occurrence of PAH in VSD children before or after surgery. In the validation set, the AI algorithm achieved an area under the curve (AUC) of 0.82. In an independent test set, the AI algorithm significantly outperformed human observers in terms of AUC (0.81 vs. 0.65). Class Activation Mapping (CAM) images demonstrated the model's attention focused on the pulmonary artery segment. The preliminary findings of this study suggest that the application of artificial intelligence to chest x-rays in VSD patients can effectively identify the risk of PAH.

Pattern of transcatheter interventional procedure have done in Cath lab and their immediate outcome: one year experience at Bangladesh Shishu hospital and institute

Background: Congenital heart disease (CHD) is defined by structural and functional malformations of the heart. If CHD not managed through appropriate interventions, it affects quality of life of the individual and potential premature death. Objectives were assessing the frequency and pattern of interventional procedure done in Cath lab of paediatric cardiology department, Bangladesh Shishu Hospital and Institute and their immediate outcome. Methods: It was a cross sectional retrospective study. Total 56 patients of ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), pulmonary stenosis (PS), aortic stenosis (AS), coarctation of aorta, pulmonary atresia, TGA from January 2019 to December 2019 who underwent trans-catheter interventional procedure by author at Cath lab of paediatric cardiology department, Bangladesh Shishu Hospital and Institute were enrolled in this study. Results: Among 56 patients, PDA device closure done in 19, balloon pulmonary valvuloplasty (BPV) in 13 patients, device closure of ASD in 3 patients, device closure of VSD in 2 patients and balloon aortic valvuloplasty (BAV) in 1 patient. Two patients died; one is pulmonary atresia with PDA dependent pulmonary circulation following ductal stenting another is d-TGA intact IVS with PFO following BAS. One PDA device embolized and retrieved surgically from main and right pulmonary artery. Mean fluoroscopy time=17.29 and mean total procedure time=38.52 min. Conclusions: Trans-catheter interventional procedure for PS, coarctation of aorta, PDA, ASD, VSD, AS, d-TGA, Pulmonary atresia is a safe and some procedure such as BAS for d- TGA, BPV for critical PS, Ductal stenting for pulmonary atresia, Balloon angioplasty for severe coarctation of aorta with LV dysfunction is lifesaving with a low adverse event rate.

Molecular Genetic Study on HAND2 Gene Promoter in Ventricular Septal Defect.

Ventricular septal defect (VSD), the most common type of congenital heart disease (CHD), is primarily caused by cardiac dysplasia. Heart and neural crest derivatives expressed 2 (HAND2) participates in developing the right heart. The loss of HAND2 expression in humans is closely connected with ventricular septal defects. We used a case-control study to analyze the genetic variations in the HAND2 promoter region in VSD patients and controls. Some statistical analysis methods were used to analyze the association of single nucleotide polymorphisms (SNPs) with VSD. The dual-luciferase reporter assay and electrophoretic mobility shift assay (EMSA) were used to conduct functional analysis and molecular mechanism study of genetic variations. Through sequencing, we identified nine genetic variants in patients with VSD. The SNP rs2276940 G>T and rs2276941 G>A were associated with an increased risk of VSD. The dual-luciferase reporter assay showed that SNP rs2276940 G>T and rs138531627 C>G decreased the transcriptional activity of the HAND2 promoter. Transcription factors (TFs) predicting suggested that all three SNPs may change the binding of TFs. The result of EMSA showed that rs138531627 C>G may create a new binding site for TFs while rs2276940 G>T enhanced the binding affinity for TFs. These results indicated that genetic variants of the HAND2 promoter may increase the risk of VSD, and the molecular mechanism may be the change of the binding affinity of TFs.

Intracardiac Three-Dimensional Image as Surgical Decision-Making Tool of Congenital Heart Disease.

This study aimed to evaluate the anatomical reproducibility of a preoperative intracardiac 3D image (IC image) created using computed tomography, and to investigate its usefulness as a surgical decision-making tool. Between 2012 and 2022, ventricular septal defect (VSD) patients, and double outlet right ventricle (DORV) or transposition of the great arteries (TGA) with pulmonary stenosis (PS) patients who underwent cardiac surgery and had preoperative computed tomography were enrolled. SYNAPSE VINCENT® (Fujifilm) was used to create an IC image which was analyzed retrospectively. In 14 VSD patients, the diagnostic consistency rate in the Soto classification with intraoperative findings was 100% (14/14) for IC image versus 64% (9/14) for transthoracic echocardiography (P = 0.04). The defect size showed a higher correlation coefficient with IC image (0.837, P = 0.001) than with transthoracic echocardiography (0.567, P = 0.034). In 11 DORV/TGA with PS patients, the diagnostic consistency rate in the Lev classification was 100% (9/9) for IC image versus 77% (7/9) for transthoracic echocardiography (P = 0.47). The secondary interventricular foramen (SVF)/left ventricular outflow tract (LVOT) ratio by IC image was significantly smaller in the biventricular-repair group (median 0.71, IQR 0.67-1.06) than in the univentricular-repair group (median 1.79, IQR 1.53-2.42) (P = 0.006). An IC image is useful as a surgical decision-making tool for simple VSDs and complex congenital heart diseases such as DORV or TGA with pulmonary stenosis. The SVF/LVOT ratio determined from the IC image may be a useful indicator for avoiding LVOT obstruction.

Cardiopulmonary functional capacity in Taiwanese children with ventricular septal defects.

Children with ventricular septal defects (VSDs) are considered to have no difference in cardiopulmonary functional capacity with healthy children of the same age; however, studies have shown contradictory findings. The aim of this study was to assess whether Taiwanese children with VSDs exhibited cardiopulmonary deficits. This is a retrospective cohort study with the data collected from January 2010 to December 2021. All patients and controls (age-, sex-, and body mass index -matched) underwent cardiopulmonary exercise testing (CPET) and pulmonary function test. In total, 157 VSD patients (80 patients with surgically closed VSDs, 77 patients with unrepaired VSDs) and 157 healthy controls were recruited. Pulmonary function test showed significant among-group differences in maximal voluntary ventilation (MVV) (p=0.015). The surgically closed group had lower MVV compared to the control group. Regarding CPET, we found VSD patients had lower peak oxygen uptake than the controls (surgically closed group: 30.84±6.27ml/kg/min; unrepaired group: 32.00±5.95ml/kg/min; control group: 36.76±6.50ml/kg/min, p<0.001). There was also significant among-group differences in aerobic capacity (surgically closed group: 21.20±4.39ml/kg/min; unrepaired group: 21.68±4.47ml/kg/min; control group: 26.25±4.33ml/kg/min, p<0.001). In addition, the surgically closed group had lower heart rate average at anaerobic threshold than the control group (surgically closed group: 138.11±16.42 bpm; control group: 145.78±15.53 bpm, p=0.002). Taiwanese children with VSD, whether surgically closed or not, have poorer cardiopulmonary performance than age-matched healthy children, and the results of the surgically closed group were even worse.

Percutaneous baloon pulmonary valvulopasty for transposition of great arteries with ventricular septal defect and pulmonary stenosis patients at hanoi heart hospital: seri cases report

Objective: To evaluate the short-term outcome of percutaneous baloon pulmonary valvuloplasty for selected transpositon of great arteries with ventricular septal defect and pulmonary stenosis patients.&#x0D; Method: from May 2022 to June 2023, 4 patients with diagnosis ccTGA- VSD- PS underwent baloon pulmonary valvulopasty at Hanoi Heart Hospital. Data was obtained before treatment, during catheterization procedures and after hospital discharge at least 6 months, with follow-up based on clinical findings and doppler echocardiography data.&#x0D; Results: all 4 patients underwent procedures successfully without major complications, with post-treatment result: the increasing of oxygen saturation, increase Qp/Qs, better functional condition status compare to pre-treatment, and lower the risk of polycythemia due to cyanosis. During follow-up, 1 patient was noted with progress pulmonary valve re-stenosis and decrease oxygen saturation, candidate for reintervention.&#x0D; Conclusion: percutaneous baloon pulmonary valvuloplasty is an effective and safe method for treatment of selected transpositon of great arteries with ventricular septal defect and pulmonary stenosis patients, which improve the clinical and functional condition for late and contraindicated operative patients.

Surgical Outcomes of Post-myocardial Infarction Ventricular Septal Defect/Rupture: A Systematic Review and Meta-Analysis.

Ventricular septal defect (VSD) is a catastrophic acute myocardial infarction (MI) complication. Despite a significant reduction in the prevalence of post-MI VSD with the advancement of surgical techniques, it is still considered fatal with a high mortality rate. The trends in the clinical outcomes of patients with post-MI VSD show discretion due to the complexity of the disease. Therefore, the present analysis aimed to evaluate the surgical outcomes and associated risks in the patients of post-MI VSD. A thorough literature survey resulted in 40 studies of our interest. The pooled proportion of differential variables, including the incidence of cardiogenic shock, 30-day survival, and overall mortality, were estimated using Bayesian hierarchical models. The risk difference was estimated for the location of MI and VSD and mortality in patients with coronary artery bypass graft (CABG). In addition, the heterogeneity tests for inconsistency and publication biases using Egger's and Begg's tests were also estimated. The analysis revealed a significant risk difference of 0.23 and 0.27 for the anterior vs. posterior location of MI and VSD, respectively. Further, the pooled proportion of 30-day survival and mortality was found to be 54.43% (95% credible interval (CI): 52.88-55.98%) and 48.22% (95% CI: 4-12.3%), respectively. Moreover, the heterogeneity test revealed significant inconsistencies in all the datasets withan I2index of >90% (p<0.0001). Lastly, the publication bias results suggested no evidence of asymmetry and small-study effects. Conclusively, the surgical management of post-MI VSD patients is considered beneficial; however, the outcomes signify its fatal behavior.

Shallow suture at ventricular septal defect may safely reduce right bundle branch block.

To avoid rhythm disturbance, sutures for ventricular septal defect closure have been traditionally placed 2∼5 mm or more away from the edge of the ventricular septal defect. However, the traditional suturing method appears to induce right bundle branch block and tricuspid valve regurgitation after ventricular septal defect closure more than our alternative technique, shallow suturing just at the edge of the ventricular septal defect (shallower bites at the postero-inferior margin). We aimed to verify our clinical experience of perimembranous ventricular septal defect repair. The alternative shallow suturing method has been applied since 2003 at our institution. We retrospectively reviewed the clinical data of 556 isolated perimembranous ventricular septal defect patients who underwent surgical closure from 2000 to 2019. We investigated the postoperative occurrence of right bundle branch block or progression of tricuspid regurgitation and analysed risk factors for right bundle branch block and tricuspid regurgitation. Traditional suturing method (Group T) was used in 374 cases (66.8%), and alternative suturing method (Group A) was used in 186 cases (33.2%). The right bundle branch block occurred more frequently in Group T (39.6%) than in Group A (14.9%). In multivariable logistic regression analysis, Group T and patch material were significant risk factors for late right bundle branch block. More patients with progression of tricuspid regurgitation were found in Group T. Shallow suturing just at the edge of the ventricular septal defect may reduce the rate of right bundle branch block occurrence and tricuspid regurgitation progression without other complications.

A fully biodegradable polydioxanone occluder for ventricle septal defect closure.

Ventricular septal defect (VSD) is one of the commonest congenital heart diseases (CHDs). Current occluders for VSD treatment are mainly made of nitinol, which has the risk of nickel allergy, persistent myocardial abrasion and fatal arrythmia. Herein, a fully biodegradable polydioxanone (PDO) occluder equipped with a shape line and poly-l-lactic acid PLLA membranes is developed for VSD closure without the addition of metal marker. PDO occluder showed great mechanical strength, fatigue resistance, geometry fitness, biocompatibility and degradability. In a rat subcutaneous implantation model, PDO filaments significantly alleviated inflammation response, mitigated fibrosis and promoted endothelialization compared with nitinol. The safety and efficacy of PDO occluder were confirmed in a canine VSD model with 3-year follow-up, demonstrating the biodegradable PDO occluder could not only effectively repair VSD, induce cardiac remodeling but also address the complications associated with metal occluders. Furthermore, a pilot clinical trial with five VSD patients indicated that all the occluders were successfully implanted under the guidance of echocardiography and no adverse events occurred during the 3-month follow-up. Collectively, the fully bioresorbable PDO occluder is safe and effective for clinical VSD closure and holds great promise for the treatment of structural CHDs.

NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing.

Ventricular septal defect (VSD) is the most common congenital cardiac abnormality in children and the second most common in adults. This study aimed to explore the potentially causative genes in VSD patients in the Chinese Tibetan population, and to provide a theoretical basis for the genetic mechanism of VSD. Peripheral venous blood was collected from 20 VSD subjects, and whole-genome DNA was extracted. High-throughput sequencing was performed on qualified DNA samples using whole-exome sequencing (WES) technology. After filtering, detecting, and annotating qualified data, single nucleotide variations (SNVs) and insertion-deletion (InDel) markers were analyzed, and data processing software such as GATK, SIFT, Polyphen, and MutationTaster were used for comparative evaluation and prediction of pathogenic deleterious variants associated with VSD. A total of 4793 variant loci, including 4168 SNVs, 557 InDels and 68 unknown loci and 2566 variant genes were obtained from 20 VSD subjects through bioinformatics analysis. According to the screening of the prediction software and database, the occurrence of VSD was predicted to be associated with five inherited pathogenic gene mutations, all of which were missense mutations, including NOTCH2 (c.1396C >A:p.Gln466Lys), ATIC (c.235C >T:p.Arg79Cys), MRI1 (c.629G >A:p.Arg210Gln), SLC6A13 (c.1138G >A:p.Gly380Arg), ATP13A2 (c.1363C >T:p.Arg455Trp). This study demonstrated that NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 gene variants were potentially associated with VSD in Chinese Tibetan population.

Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs)

BackgroundWith prevalence up to 4%, Ventricular Septal Defect (VSD) is one of the leading causes of neonatal deaths. VSD is a common complex genetic disorder that has been associated with many genetic determinants. Variants from genes for the transcription factors including T-Box TBX5 and NFATc1 (nuclear factor of activated T cells, cytoplasmic 1), Vascular endothelial growth factor (VEGF), ISLET1 (encoded by the ISL1 gene) and enzyme MTHFR, a methylene tetrahydrofolate reductase were selected. Genetic risk score (GRS) is a widely accepted approach used to convert the genetic data into prediction and assessment tool for disease susceptibility.MethodsA total of 200 participants were recruited for the current study, 100 VSD patients and 100 controls. Genotyping of the ISL1: rs1017, NFATc1: rs7240256, VEGF: rs36208048, TBX5: rs11067075, and MTHFR: rs1801133 variants was performed using tetra primer ARMS PCR and PCR-RFLP. For the statistical analysis, the software SPSS version 23 was used. Genotypic frequencies of cases and controls were calculated using chi-square (χ²) whereas allelic frequencies were calculated by using the SNPStats tool. The association of GRS quartiles with VSD was examined using binary logistic regression. Adjusted p-value 0.01 was used as significance threshold for all analyses.ResultsThe ISL1 (OD: 0.242, CI: 0.158–0.37, p-value: 2.15 × 10− 4 :), NFATc1 (OD: 2.53, CI: 1.64–3.89, p-value: 2.11 × 10− 5), TBX5 (OD: 2.24, CI: 1.47–3.41, p-value:1.6 × 10− 4) and MTHFR (OD: 10.46, CI: 5.68–19.26, p-value: 2.09 × 10− 9:) variants were found to be in association with VSD. In contrast, the VEGF (OD: 0.952, CI: 0.56–1.62, p-value: 0.8921) variant did not show significance association with the VSD. For cases, the mean GRS score was 3.78 ± 1.285 while in controls it was 2.95 ± 1.290 (p-value: 0.479, CI: 0.474–1.190). Comparison of GRS between cases and control showed that mean GRS of cases was 1.90 ± 0.480 while in controls it was 1.68 ± 0.490 (p-value: 0.001, CI: 0.086–0.354). Higher quartiles were more prevalent in cases whereas lower quartiles were more prevalent in controls.ConclusionGRS of these five loci was strongly associated with VSD. Moreover, genetic risk score can provide better information for the association between variants and disease as compared to a single SNP. We also illustrated that the cumulative power of GRS is greater over the single SNP effect. This is a pilot scale study with a relatively small sample size whose findings should be replicated in a larger sample size for the unique local Pakistani population.

Transcatheter Closure of The Ventricular Septal Defect in Patients With Multiple Comorbidities

Transcatheter Closure of The Ventricular Septal Defect in Patients With Multiple Comorbidities

Effects of General Anesthesia on the Results of Cardiac Catheterization in Pediatric Patients with Ventricular Septal Defect

<b>Background:</b> There is no gold standard sedation method for pediatric cardiac catheterization. In congenital heart diseases with intracardiac shunts, hemodynamic parameters are prone to change depending on the ventilation conditions and anesthetics, although few studies have examined these effects. The purpose of this study was to investigate the effects of two different sedation methods on the hemodynamic parameters. <b>Methods:</b> This study retrospectively evaluated consecutive patients with ventricular septal defect (VSD) below 1 year of age who underwent cardiac catheterization at Aichi Children’s Health and Medical Center, who were divided into age- and VSD diameter-matched general anesthesia (GA) and monitored anesthesia care (MAC) under the natural airway groups (<i></i>n = 40 each), for comparison of hemodynamic parameters. <b>Results:</b> In the GA group, arterial blood pH and arterial partial pressure of oxygen were significantly higher (<i>p</i> < 0.01), whereas arterial partial pressure of carbon dioxide was significantly lower than in the MAC group (<i>p</i> < 0.01). Mean pulmonary artery pressure (<i>p</i> < 0.05) and systemic blood pressure (<i>p</i> < 0.01) were lower in the GA group. Pulmonary vascular resistance index (<i>p</i> < 0.01) and systemic vascular resistance index (<i>p</i> < 0.01) were also significantly lower in the GA group than the MAC group. There were no significant differences in pulmonary blood flow index, systemic blood flow index, and pulmonary/systemic blood flow ratio between the two groups. <b>Conclusions:</b> Cardiac catheterization under GA in VSD patients results in different hemodynamic parameters compared to that under MAC. In particular, when using pulmonary artery pressure and pulmonary vascular resistance measured under GA for judgment regarding the surgical indications or perioperative management, consideration should be given to the fact that these parameters might be lower compared to those measured under MAC.

Becoming a Teenager after Early Surgical Ventricular Septal Defect (VSD) Repair: Longitudinal Biopsychological Data on Mental Health and Maternal Involvement

Beside somatic strains of congenital heart diseases (CHD), affected children often show developmental impairments in the long term. Ventricular septal defect (VSD) is the most common congenital heart defect and early surgical repair is associated with positive somatic outcomes. However, psychological adjustment is of lifelong relevance. We investigated 24 children with a surgically-corrected isolated VSD and their mothers from primary school (6-9 years) to adolescence (10-14 years) and compared them to controls. Both times, mothers reported child internalizing/externalizing problems, mothers and children rated child quality of life, and children performed neurodevelopmental tests. Adolescents also rated internalizing/externalizing problems themselves, and their hair cortisol levels were analyzed. Maternal anxiety and proactive parenting behavior were considered as moderators. Results revealed no group differences in child neurodevelopment (language, cognition), externalizing problems, and cortisol levels at any time. In reports from mothers, internalizing problems (depression, anxiety) were elevated in children with a VSD at both times-when mothers reported anxiety symptoms themselves. In adolescent reports, VSD patients' quality of life was increased and internalizing problems were decreased-proactive parenting behavior went along with decreased symptoms in VSD-affected adolescents and with increased symptoms in controls. The findings pronounce the crucial role of parenting behavior and the influence of maternal anxieties on child mental health after surgical VSD repair and might highlight the need for parent-centered interventions.

Survival of patients with congenital ventricular septal defect.

The long-term survival of patients with isolated congenital ventricular septal defect (VSD) is not well described. The aim of this study was to describe the survival of a national cohort of patients with VSD compared with the general population. Using Danish nationwide medical registries, all patients diagnosed with congenital VSD (n = 9,136) in the period 1977-2018 were included. Patients with chromosomal abnormalities and concomitant congenital cardiac malformations other than atrial septal defect were excluded. Each patient was matched by birthyear and sex with ten controls from the general Danish population. Kaplan-Meier survival function and Cox proportional hazard regression were used to compute survival and mortality risk. Median follow-up was 22 years (interquartile range: 11-37). VSD patients displayed lower survival (P<0.001) yielding a hazard ratio (HR) for mortality of 2.7 [95% confidence interval (CI): 2.4-3.0] compared with matched controls. The adjusted HR for mortality among patients with unrepaired VSD was 2.7 (95% CI: 2.4-3.0) and 2.8 (95% CI: 2.1-3.7) for patients with surgically closed VSD. Stratified by era of VSD diagnosis, the HR for mortality was 3.2 (95% CI: 2.8-3.7) for unrepaired patients diagnosed before 1990 and 2.4 (95% CI: 2.0-2.7) for patients diagnosed later. Cardiac-related death was the commonest cause of death among unrepaired (30%) and surgically closed (65%) patients. Patients with VSD had lower survival compared with the general population. The HR for mortality was increased over 2.5-fold in patients with unrepaired defect (Eisenmenger syndrome excluded) and over 1.5-fold in patients with surgically closed defect (excluding surgical mortality).

Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects

BackgroundVentricular septal defect is the most common form of congenital heart diseases. MYH6 gene has a critical effect on the growth and development of the heart but the variants in the promoter of MYH6 is unknown.Patients and methodsIn 604 of the subjects (311 isolated and sporadic ventricular septal defect patients and 293 healthy controls), DNA was extracted from blood samples and MYH6 gene promoter region variants were analyzed by sequencing. Further functional verification was performed by cellular experiments using dual luciferase reporter gene analysis, electrophoretic mobility shift assays, and bioinformatics analysis.ResultsNine variants were identified in the MYH6 gene promoter and two of those variants [g.4085G>C(rs1222539675) and g.4716G>A(rs377648095)] were only found in the ventricular septal defect patients. Cellular function experiments showed that these two variants reduced the transcriptional activity of the MYH6 gene promoter (p < 0.001). Further analysis with online JASPAR database suggests that these variants may alter a set of putative transcription factor binding sites that possibly lead to changes in myosin subunit expression and ventricular septal defect formation.ConclusionsOur study for the first time identifies variants in the promoter region of the MYH6 gene in Chinese patients with isolated and sporadic ventricular septal defect. These variants significantly reduced MYH6 gene expression and affected transcription factor binding sites and therefore are pathogenic. The present study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of VSD formation.