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Purpose: The aim of this study was to examine whether there is a correlation between different types of ventricular septal defects (VSD) and chromosomal abnormalities in the low-risk setting of non-invasive prenatal testing (NIPT) and to evaluate the prognosis of fetuses with varying types of VSD. Methods: Cases of pregnant women who underwent amniocentesis due to fetal VSD were collected by Tianjin Central Hospital of Obstetrics and Gynecology from May 2017 to May 2022. Exclusions were made for those without NIPT, with high-risk NIPT results, genetic disorders, and those lost to follow-up. Data collected included ultrasound classification of VSD, prenatal NIPT results, copy-number variations (CNVs) results, and neonatal outcomes. Results: The prevalence of pathogenic CNVs was investigated in 74 cases of VSDs. Of these cases, 45 were isolated VSDs (9 muscular and 36 non-muscular) and 29 were non-isolated VSDs (10 with intracardiac and 19 with extra-cardiac structural anomalies). The results revealed that the incidence of pathogenic CNVs was lower in isolated VSDs compared to non-isolated VSDs in a low-risk NIPT condition (χ2 = 9.344, P = 0.002). There was no significant difference in the prevalence of pathogenic CNVs between VSDs with intracardiac and extra-cardiac structural anomalies (P = 0.541). Moreover, VSDs associated with intracardiac structural anomalies had the highest rate of surgical intervention. Conclusion: When NIPT is low-risk and VSD is isolated, the likelihood of fetal chromosomal defects is not increased. However, if there are intra- or extra-cardiac structural abnormalities present alongside VSD, the possibility of pathogenic CNV is considerably greater, necessitating invasive prenatal diagnosis. Isolated muscular VSDs usually do not require surgery, which can be used as a basis for prenatal counseling regarding fetal VSD. [ABSTRACT FROM AUTHOR]

Background: Cleft in the mitral valve leaflet is a primary cause of congenital mitral regurgitation, stemming from developmental anomalies in the mitral valve and frequently associated with other congenital heart defects. Concurrent presence of cleft in mitral valve leaflet with atrial septal defect and ventricular septal defect is relatively rare. Echocardiography, especially transesophageal echocardiography, is essential in diagnosing cleft mitral valve leaflet and related congenital heart defects, providing critical, detailed imagery for accurate assessment. This study presents a young female patient whose anterior mitral cleft, along with atrial septal defect and ventricular septal defect, was revealed through three-dimensional transesophageal echocardiography. Case presentation: A 25-year-old Iranian female, experiencing progressive dyspnea and diminished physical capacity over 3 months, was referred to our hospital. Initial examination and transthoracic echocardiography indicated severe mitral regurgitation. Further evaluation with transesophageal echocardiography corroborated these findings and identified a cleft in the anterior mitral valve leaflet, coupled with mild left ventricular enlargement and significant left atrial enlargement. The complexity of the patient's condition was heightened by the diagnosis of cleft mitral valve leaflet in conjunction with atrial septal defect and ventricular septal defect, showing the complex nature of congenital defects. Conclusion: This case emphasizes the critical role of transthoracic echocardiography in diagnosing cleft of mitral valve leaflet and associated cardiac anomalies, showcasing its superiority over transthoracic echocardiography for detailed visualization of cardiac structures. The identification of multiple congenital defects highlights the necessity for a comprehensive diagnostic approach to manage and treat patients with complex congenital heart diseases effectively. Future research should aim to refine diagnostic methodologies to enhance patient outcomes for cleft of mitral valve leaflets and related congenital conditions. [ABSTRACT FROM AUTHOR]

Background: Chromosome 7 has regions enriched with low copy repeats (LCRs), which increase the likelihood of chromosomal microdeletion disorders. Documented microdeletion disorders on chromosome 7 include both well-known Williams syndrome and more rare cases. It is noteworthy that most cases of various microdeletions are characterized by phenotypic signs of neuropsychological developmental disorders, which, however, have a different genetic origin. The localization of the microdeletions, the genes included in the region, as well as the structural features of the sequences of these genes have a cumulative influence on the phenotypic characteristics of the individuals for each specific case and the severity of the manifestations of disorders. The consideration of these features and their detailed analysis is important for a correct and comprehensive assessment of the disease. Results: The article describes a clinical case of 7p22.3 microdeletion in a patient with congenital heart defect and neurological abnormalities - epilepsy, combined with moderate mental and motor developmental delay. Conclusions: Through detailed genetic analyses, we are improving the clinical description of the rare 7p22.3 microdeletion and thus creating a basis for future genetic counseling and research into targeted therapies. [ABSTRACT FROM AUTHOR]

Background: Ventricular septal defect (VSD) is the most common congenital heart disease. Although a small number of genes associated with VSD have been found, the genetic factors of VSD remain unclear. In this study, we evaluated the association of 10 candidate single nucleotide polymorphisms (SNPs) with isolated VSD in a population from Southwest China. Methods: Based on the results of 34 congenital heart disease whole-exome sequencing and 1000 Genomes databases, 10 candidate SNPs were selected. A total of 618 samples were collected from the population of Southwest China, including 285 VSD samples and 333 normal samples. Ten SNPs in the case group and the control group were identified by SNaPshot genotyping. The chi-square (χ2) test was used to evaluate the relationship between VSD and each candidate SNP. The SNPs that had significant P value in the initial stage were further analysed using linkage disequilibrium, and haplotypes were assessed in 34 congenital heart disease whole-exome sequencing samples using Haploview software. The bins of SNPs that were in very strong linkage disequilibrium were further used to predict haplotypes by Arlequin software. ViennaRNA v2.5.1 predicted the haplotype mRNA secondary structure. We evaluated the correlation between mRNA secondary structure changes and ventricular septal defects. Results: The χ2 results showed that the allele frequency of FLT4 rs383985 (P = 0.040) was different between the control group and the case group (P < 0.05). FLT4 rs3736061 (r2 = 1), rs3736062 (r2 = 0.84), rs3736063 (r2 = 0.84) and FLT4 rs383985 were in high linkage disequilibrium (r2 > 0.8). Among them, rs3736061 and rs3736062 SNPs in the FLT4 gene led to synonymous variations of amino acids, but predicting the secondary structure of mRNA might change the secondary structure of mRNA and reduce the free energy. Conclusions: These findings suggest a possible molecular pathogenesis associated with isolated VSD, which warrants investigation in future studies. [ABSTRACT FROM AUTHOR]

Aim Saline contrast-enhanced electrical impedance tomography (EIT) has been used to identify the respiratory failure etiologies through assessment of regional lung perfusion at the bedside. In this study, we introduce a novel approach to detect right-to-left intracardiac shunt based on the center of heart (CoH) parameter determined from the early phase of impedance–time curve after saline bolus injection. Methods and result The timepoints when the saline bolus enter the heart (T0) and the lung regions (T1) are identified at first. A moving time window from T0 to T1 is then generated with steps of 0.5 s and the slope of the impedance–time curve in each pixel within the window calculated. CoH is calculated as the geometric center of pixel slope values in the right-to-left image direction. To illustrate how this method works in practice, we calculated the CoH values at T0 to T1 in 10 control hypoxic patients with no right-to-left shunt. In addition, we examined two critically ill patients with right-to-left intracardiac shunt. One was postcardiac surgery patient who had a residual atrial septal defect by color doppler of transesophageal echocardiograph. The other patient had a congenital heart disease of ventricular septal defect by color doppler of trans-thoracic echocardiography. A large difference in CoH between T0 to T1 was observed in the two patients with intracardiac shunt than in the control patients (11.06 ± 3.17% vs. 1.99 ± 1.43%, P  = 0.030). Conclusion Saline bolus EIT for lung perfusion might be used as ventriculography to identify the right-to-left intracardiac shunt at the bedside. [ABSTRACT FROM AUTHOR]

Infective endocarditis (IE) affects the endothelium of the heart, with the heart valves most commonly involved. It has been documented that the annual incidence of infective endocarditis is 3-10 per 100,000 patient-years1. However, it can be underestimated since the incidence in developing countries cannot be determined accurately. Here, we present a case of a 37-year-old male who was referred from a local health facility with shortness of breath on presentation; the patient was anuric for one day and initial laboratory investigations showed metabolic acidosis, hyperkalemia, sepsis, and deranged renal function tests. The patient had received a three-week course of intravenous (IV) piperacillin-tazobactam at the previous health facility, being diagnosed as a case of infective endocarditis. An initial transthoracic echocardiogram (TTE) showed vegetation on the pulmonary valve; however, the patient was neither an IV drug abuser nor did he have any history of implantation of intracardiac devices or central venous catheters. There was no recent or remote history of dental or surgical procedures. Due to the acute kidney injury, hemodialysis sessions and IV imipenem were started. As the patient’s hemodynamic profile improved by the fifth day of admission, TTE was repeated, revealing a small ventricular septal defect (VSD). This case report highlights the importance of even small VSD that could potentially lead to right-sided IE. Surgical correction of VSD could prevent such a life-threatening condition. [ABSTRACT FROM AUTHOR]

Ventricular septal defects are a rare complication after acute myocardial infarction with a mortality close to 100% if left untreated. However, even surgical or interventional closure is associated with a very high mortality and currently no randomized controlled trials are available addressing the optimal treatment strategy of this disease. This state-of-the-art review and clinical consensus statement will outline the diagnosis, hemodynamic consequences and treatment strategies of ventricular septal defects complicating acute myocardial infarction with a focus on current available evidence and a focus on major research questions to fill the gap in evidence. [ABSTRACT FROM AUTHOR]

Key Clinical Message: In this study, we introduced one of the rarest concomitants of the absence of left pulmonary artery (LPA), which was seen in our patient along with patent ductus arteriosus (PDA) and ventricular septal defect (VSD). Unilateral absence of pulmonary artery (UAPA) is a congenital heart disease in association with other abnormalities such as tetralogy of Fallot and septal defects or isolated in 30% of cases and occurs in the right lung in two thirds of cases. Our case is a 33‐year‐old man who was hospitalized with symptoms of cough, shortness of breath, and hemoptysis. The echocardiography revealed a large ventricular septal defect, absent left pulmonary artery, and severe pulmonary hypertension (PH) along with patent ductus arteriosus. These findings were confirmed by CT angiography. This association has rarely been found in past studies. Due to PH and pulmonary infection, the patient was treated with intravenous prostaglandin and antibiotics. However, in cases of timely diagnosis and treatment of UAPA, fatal complications such as pulmonary hypertension, morbidity, and mortality are reduced. This case emphasizes the importance of awareness of this abnormality and its associated anomalies to enable early diagnosis and treatment. [ABSTRACT FROM AUTHOR]

Simple Summary: In a groundbreaking procedure, our team successfully performed surgery on a young Ragdoll cat with a rare type of heart defect known as an infundibular muscular ventricular septal defect, which is a hole between the two lower heart chambers. This condition, if left untreated, can lead to severe heart problems. Therefore, the surgery was performed using a method called cardiopulmonary bypass, which is quite unusual in cats. This approach involved stopping the heart temporarily to repair the defect safely. Despite being a challenging situation, in which an adjacent structure was unintentionally damaged intraoperatively, resulting in a temporary complication that was treated non-surgically, the cat recovered well. By 490 days postoperatively, the cat was healthy with only a minor residual defect, showing that the heart had nearly returned to its normal size. This case highlights a promising surgical option for treating similar heart defects in cats, which can potentially improve their quality of life significantly. Therefore, with proper surgical treatment, even in cases of severe congenital heart disease in cats, owners will be able to live with their cats without the need for numerous medications. Ventricular septal defects (VSDs) can lead to congestive heart failure and pulmonary hypertension, particularly in patients with large shunts. However, no surgical treatment for feline VSD has been reported. Here, we elucidated the first surgical correction of an infundibular muscular VSD in a one-year-old Ragdoll cat, atypically located and classified under the Soto classification rather than the standard Kirklin classification, through cardiac arrest using cardiopulmonary bypass—a method rarely used in feline cardiac surgery. Detailed echocardiography revealed that the defect required intervention owing to left heart and main pulmonary artery enlargement. Despite the VSD being located on the contralateral side, as anticipated in the preoperative examinations, the choice of median sternotomy allowed for the successful closure of the defect. Conversely, the insertion of two cannulas into the ascending aorta resulted in damage to the adjacent thoracic duct, causing transient chylothorax, which was resolved with conservative treatment. Cardiac arrest induced by a cardioplegic solution facilitated the surgical procedure, although it leads to anemia in cats. However, on postoperative day 490, the patient exhibited only minor residual shunting, with normalized heart size, and remained healthy. This technique appears to be a viable treatment option for congenital heart disease in cats. [ABSTRACT FROM AUTHOR]

BACKGROUND: Congenital heart disease (CHD) seriously affects children's health and quality of life, and early detection of CHD can reduce its impact on children's health. Tetralogy of Fallot (TOF) and ventricular septal defect (VSD) are two types of CHD that have similarities in echocardiography. However, TOF has worse diagnosis and higher morality than VSD. Accurate differentiation between VSD and TOF is highly important for administrative property treatment and improving affected factors' diagnoses. OBJECTIVE: TOF and VSD were differentiated using convolutional neural network (CNN) models that classified fetal echocardiography images. METHODS: We collected 105 fetal echocardiography images of TOF and 96 images of VSD. Four CNN models, namely, VGG19, ResNet50, NTS-Net, and the weakly supervised data augmentation network (WSDAN), were used to differentiate the two congenital heart diseases. The performance of these four models was compared based on sensitivity, accuracy, specificity, and AUC. RESULTS: VGG19 and ResNet50 performed similarly, with AUCs of 0.799 and 0.802, respectively. A superior performance was observed with NTS-Net and WSDAN specific for fine-grained image categorization tasks, with AUCs of 0.823 and 0.873, respectively. WSDAN had the best performance among all models tested. CONCLUSIONS: WSDAN exhibited the best performance in differentiating between TOF and VSD and is worthy of further clinical popularization. [ABSTRACT FROM AUTHOR]

This article discusses a case report of a patient who underwent repair of a ventricular septal defect (VSD) following a myocardial infarction (MI). The patient was initially supported with an Impella 5.5 device for two weeks before undergoing repair using a right ventriculotomy and implantation of a Heartmate 3 (HM3) device. The article highlights the effectiveness of pre-operative Impella 5.5 support in facilitating rehabilitation and myocardial remodeling, and demonstrates the successful use of a right ventriculotomy and the LV apical core for VSD repair. The case emphasizes the importance of timely VSD repair and the potential benefits of mechanical circulatory support in these cases. [Extracted from the article]

Introduction Congenital VSDs require early correction to avoid serious complications. For many years, the gold standard was the median longitudinal sternotomy, but given the gross cosmetic effect, miniapproaches were developed, but right anterior mini-thoracotomies gained popularity. We modified the method of anterior right-sided minithorcatomy by preserving a. et v. mammaria interna and the purpose of the study was to evaluate its effectiveness. Material and Methods The design of the study was prospective with historical control. A total of 82 patients who underwent VSD correction were included in the study. All patients were divided into three groups: group 1 operated by median sternotomy (MS) - 15 patients; Group 2 operated by right anterior minithoracotomy (RAMT) - 38 patients; and the 3rd main group operated on by right antero-lateral thoracotomy (RLMT) with preservation of the artery and vein of the internal mammary artery - 29 patients. Results We revealed the older age in RAMT group. Cardio pulmonary bypasstime and total operation time were shorter in RLMT group, but the time of aortic cross-clamping is shorter than in RAMT group, but longer than in MS group. The length of the skin incision is also the shortest in RLMT group, which enhances the cosmetic effect. Also there were revealed a shorter mechanical lung ventilation time and ICU stay, moreover we observed reduced amount of drainages, as well as quick discharge home. Conclusion Therefore, improved and modificated right antero-lateral minithoracotomy method with preserving a et v mammaria interna is feasible, has a good cosmetic effect, and short hospitalization stay, but should perform with careful preparation of the entire cardiac team. [ABSTRACT FROM AUTHOR]

Ventricular septal defect (VSD) is the most common congenital heart malformation in children. This study aimed to investigate potential pathogenic genes associated with Tibetan familial VSD. Whole genomic DNA was extracted from eight Tibetan children with VSD and their healthy parents (a total of 16 individuals). Whole-exome sequencing was performed using the Illumina HiSeq platform. After filtration, detection, and annotation, single nucleotide variations and insertion-deletion markers were examined. Comparative evaluations using the Sorting Intolerant from Tolerant, PolyPhen V2, Mutation Taster, and Combined Annotation Dependent Depletion databases were conducted to predict harmful mutant genes associated with the etiology of Tibetan familial VSD. A total of six missense mutations in genetic disease-causing genes associated with the development of Tibetan familial VSD were identified: activin A receptor type II-like 1 (c.652 C > T: p.R218 W), ATPase cation transporting 13A2 (c.1363 C > T: p.R455 W), endoplasmic reticulum aminopeptidase 1 (c.481 G > A: p.G161 R), MRI1 (c.629 G > A: p.R210Q), tumor necrosis factor receptor-associated protein 1 (c.224 G > A: p.R75H), and FBN2 (c.2260 G > A: p.G754S). The Human Gene Mutation Database confirmed activin A receptor type II-like 1, MRI1 , and tumor necrosis factor receptor-associated protein 1 as pathogenic mutations, while FBN2 was classified as a probable pathogenic mutation. This novel study directly screens genetic variations associated with Tibetan familial VSD using whole-exome sequencing, providing new insights into the pathogenesis of VSD. [ABSTRACT FROM AUTHOR]

Partial anomalous pulmonary venous connection (PAPVC) is a rare congenital cardiac abnormality in which the pulmonary veins drain into the right atrium directly or the superior vena cava 90% of PAPVC are accompanied by atrial septal defect. However, PAPVC with ventricular septal defect is a rare entity. [ABSTRACT FROM AUTHOR]

Most individuals with ventricular septal defect survive to adulthood which allows time for other complications such as pulmonary arterial hypertension to gradually develop over a period of time. When there are other associated cardiac conditions that also contribute to the development of pulmonary hypertension such as valvular heart disease, the pulmonary hypertension may be exaggerated. Because these different etiologies of the pulmonary hypertension have different mechanisms, their coexistence can complicate patient management. We present a 26-year-old man with a large ventricular septal defect and rheumatic mitral valve disease who developed severe pulmonary hypertension that became complicated by atrial fibrillation and later sudden cardiac death. [ABSTRACT FROM AUTHOR]

Background: Cardiac myxomas are benign tumours that can occur in any heart chamber or valve. They are extremely rare in dogs. We present a novel case involving a cardiac myxoma in the left ventricular outflow tract (LVOT) and a ventricular septal defect (VSD) in a small dog. Case Description: A female miniature dachshund (age, 7 months; weight, 2.88 kg) presented with growth insufficiency, lethargy, and a cardiac murmur. Echocardiography revealed a small polypoid mass in the LVOT and a membranous VSD. Simultaneous surgeries were performed to resect the mass (aortotomy) and close the VSD (right atriotomy) using low-flow cardiopulmonary bypass with surface-cooling hypothermia and retrograde cardioplegia. The tumour was histopathologically identified as a myxoma. The dog survived with no cardiac complications for 11 years after surgery. Conclusion: To our knowledge, this is the first report of ante-mortem diagnosis and simultaneous surgical repair of a cardiac myxoma obstructing the LVOT and a VSD in a small-breed dog. In addition to describing this complicated case, this report presents what we believe is the first reported use of retrograde cardioplegia during open-heart surgery in a small-breed dog. [ABSTRACT FROM AUTHOR]

Mitral valve surgery (MVS), with repair preferred to replacement, is a common procedure for the treatment of severe primary mitral regurgitation related to leaflet prolapse. Structural complications after MVS include left ventricular outflow obstruction, paravalvular leak and atrial septal defect. Intraoperative transoesophageal echocardiography and predischarge transthoracic echocardiography (TTE) specifically screen for these complications. Ventricular septal defect (VSD), a known complication after aortic valve surgery, is rarely reported after MVS. Recently, unsuccessful valvuloplasty prior to replacement was suggested as a risk factor. We present such a case and explore mechanisms with advanced cardiac imaging. In this case, the patient was found to have an elongated membranous septum that likely predisposed her to septal injury. Finally, we provide guidance on specific transoesophageal/transthoracic echocardiography views to avoid a missed diagnosis. [ABSTRACT FROM AUTHOR]

Background Ventricular septal defect (VSD) is an unusual complication of transcatheter aortic valve implantation (TAVI). The risk factors are not well understood but may include oversizing, calcification amount and location, left-ventricular chamber morphology, and valve-in-valve (ViV) procedures. Percutaneous treatment is challenging but is usually the preferred option. Case summary An 80-year-old woman with two previous surgical aortic valve replacements was admitted to our Cardiology Department for decompensated heart failure. New bioprosthesis degeneration (19 mm Mitroflow™, Sorin Group, Canada) was observed with severe intraprosthetic aortic regurgitation. After evaluation, the heart team chose to perform ViV TAVI. Because of the high risk of coronary obstruction, chimney stenting of both coronary arteries was performed. A 23 mm self-expandable Navitor™ valve (Abbott, IL, USA) was implanted, but the Mitroflow™ valve had to be cracked to minimize the persistent high gradient. During valve fracture, the non-compliant balloon broke and a small iatrogenic VSD appeared. However, the patient remained stable, so conservative management was selected. During follow-up, she developed severe haemolytic anaemia and heart failure; therefore, percutaneous closure of the iatrogenic VSD was performed twice, which was a difficult challenge. Discussion A viable alternative to redo surgery is ViV TAVI. Risks include higher rates of prosthesis–patient mismatch and coronary obstruction. Occasionally, bioprosthetic valve fracture is required, particularly in small bioprostheses, to achieve low gradients. Anecdotally, fracture has led to annular rupture and VSD. Most VSDs are small and without clinical or haemodynamic repercussions; however, in symptomatic cases, percutaneous closure is a viable alternative to surgery. [ABSTRACT FROM AUTHOR]

Among congenital cyanotic heart diseases (CHDs), situs inversus totalis with transposition of great vessels with a large ventricular septal defect (VSD) has a very low incidence of around 1 in 10,000. Hereby, we present a 16-year-old man with the aforementioned cardiac anomaly with cardiac arrhythmias, septic shock, and a history of road traffic accident-causing osteomyelitis of the left thigh requiring incision and drainage. The patient was admitted to the intensive care unit with a high-grade fever, narrow pulse pressure, and atrial fibrillation. The patient was operated on under general anesthesia with endotracheal intubation after optimization. Invasive monitoring, antiarrhythmics, and vasopressors were required intraoperatively, and surgery progressed uneventfully. Furthermore, the patient had undergone a series of debridements after 8 days, which were performed under regional anesthesia uneventfully. This case report represents a plan of action for perioperative anesthetic management and anticipates the difficulties for CHD patients in the course of surgery and subsequential prudence. [ABSTRACT FROM AUTHOR]

Morgagni hernia (MH) is a rare form of congenital diaphragmatic hernia, typically occurring predominantly on the right side and exhibiting a higher prevalence in females. Usually diagnosed incidentally, MH may coexist with congenital heart defects, chest wall abnormalities and certain genetic syndromes such as Down syndrome. A 4-year-old boy with Down syndrome underwent simultaneous repair of MH and closure of a ventricular septal defect (VSD). A vertical midline sternotomy was performed, and the VSD was repaired using the right atrium approach. Subsequently, MH repair was conducted. Three weeks after the surgery, this patient developed a complete heart block, which lead to the implantation of a VVI pacemaker. [ABSTRACT FROM AUTHOR]

The aim of this study was to introduce an interventional heart catheterization to close patent ductus arteriosus (PDA), ventricular septal defect (VSD), atrial septal defect (ASD), and pulmonary hypertension without complications from open heart surgery and a 3-day hospitalization period. PDA, VSD, and ASD are among the most common abnormalities associated with various complications. This case is a 3.5-year-old girl with frequent lung infections and Failure to thrive. Treatment in the first stage aims to close the PDA using Amplatzer ADO II type AGA, size 5-6 mm and ASD using Amplatzer Septal Occluder size 15 mm. The patient was discharged the next day. Six months later, a successful interventional closure of the VSD was performed using Lifetech Symmetric Amplatzer membranous size 12 mm and patient was discharged 2 days after. All these defects were corrected without open heart surgery and the need for long-term Intensive care unitsadmission. [ABSTRACT FROM AUTHOR]

Background: Ventricular septal defect is a hole or multiple holes in the interventricular septum. Hearts with these primary defects may have minor coexisting morphologic abnormalities, or may be part of another major cardiovascular anomaly. Peri membranous ventricular septal defects are among the most common cardiac malformations and constitute 80% of these defects. Ventricular septal defects may be small, moderate or large size. Material and Methods: The study was conducted in the Department of Cardiovascular and Thoracic Surgery on patients operated for ventricular septal defects. Results: A total of 9 patients, mostly in second decade, irrespective of age, sex, clinical presentation and surgical outcome were included in the study. Male patients were more. Tachypnoea was the presenting symptom, and pansystolic murmur common clinical observation. Two-dimensional echocardiography was the investigation of choice, and around 80% had peri membranous type of defect. All the patients were operated under cardiopulmonary bypass, patch repair was common surgical procedure. There was no mortality. Conclusion: Early and precise diagnosis, followed by definitive management (Device closure / Open Surgical repair) gives excellent results. [ABSTRACT FROM AUTHOR]

Open in new tab Download slide OBJECTIVES The goal of this retrospective multicentre study was to present late surgical outcomes of the treatment of children with double outlet right ventricle (DORV) coming from emerging countries. METHODS The Mécénat Chirurgie Cardiaque brings to France for surgery selected children with simple and complex congenital diseases, including DORV. The patients are operated on in 9 hospitals that specialize in paediatric cardiac surgery. Data are collected from the Mécénat Chirurgie Cardiaque comprehensive database, with a strict postoperative follow-up. The patients included only those who had biventricular repair of DORV with 2 viable ventricles. According to the classification of the Eleventh Revision of the International Classification of Diseases, DORV was defined as a congenital cardiovascular malformation in which both great arteries arise entirely or predominantly from the morphologically right ventricle. RESULTS From January 1996 to January 2022, a total of 81 consecutive DORV biventricular repair operations were performed. There were 6 subtypes of DORV divided into 2 groups: DORV-committed ventricular septal defect (VSD): DORV-VSD (n = 25), DORV-Fallot (n = 34), DORV-transposition of the great arteries (n = 5); and DORV-non-committed (nc) VSD: DORV-ncVSD-no pulmonary stenosis (PS) (n = 7), DORV-ncVSD-PS (n = 5) and DORV-atrioventricular septal defect (AVSD)-PS (n = 5). Four Fontan patients were excluded. Three patients were lost to follow-up (3.4%). The overall perioperative mortality was 7.4% ± 2.6%, 6/81 (95% confidence interval: 2.8%–15.4%) ranging from 0% in DORV-AVSD-PS to 14% for DORV-ncVSD-no PS. The overall 10-year survival was 86%. The early mortality of DORV-ncVSD at 5.9% ± 2.4% (1/17) was similar to that of DORV-committed VSD at 7.8% ± 2.7% (5/64) (P = 0.79). There was a trend towards an optimal outcome for the arterial switch operation and the DORV-AVSD-PS repair. VSD enlargement was significantly more frequent in DORV-ncVSD at 42% (5/12) (P = 0.001). There were low numbers in the complex groups. The number of Fontan cases was noticeably low. The aorta located entirely on the right ventricle represents the fundamental anomaly and the surgical challenge of DORV. CONCLUSIONS Overall survival at 10 years was 86%. This study shows a trend towards satisfactory early and late outcomes in BVR of simple DORV with committed VSD, compared to complex DORV with ncVSD. [ABSTRACT FROM AUTHOR]

Background: The optimal surgical timing and clinical outcomes of ventricular septal defect (VSD) closure in neonates remain unclear. We aimed to evaluate the clinical outcomes of VSD closure in neonates (age ≤ 30 days). Methods: We retrospectively reviewed 50 consecutive neonates who underwent VSD closure for isolated VSDs between August 2003 and June 2021. Indications for the procedure included congestive heart failure/failure to thrive and pulmonary hypertension. Major adverse events (MAEs) were defined as the composite of all-cause mortality, reoperation, persistent atrioventricular block, and significant (≥grade 2) valvular dysfunction. Results: The median age and body weight at operation were 26.0 days (interquartile range [IQR], 18.8-28.3) and 3.7 kg (IQR, 3.3-4.2), respectively. The median follow-up duration was 110.4 months (IQR, 56.8-165.0). Seven patients required preoperative respiratory support, and five had significant (≥grade 2) preoperative valvular dysfunction. One early mortality occurred due to irreversible cardiogenic shock; no late mortality was observed. One reoperation was due to hemodynamically significant residual VSD at 103.8 months postoperatively. The overall survival, freedom from reoperation, and freedom from MAE at 15-years were 98.0%, 96.3%, and 94.4%, respectively. Preoperative mechanical ventilation was associated with a longer duration of postoperative mechanical ventilation (p < 0.001) and a longer length of intensive care unit stay (p < 0.001). Conclusions: VSD closure with favorable outcomes without morbidities is feasible even in neonates. However, neonates requiring preoperative respiratory support may require careful postoperative management considering the long-term postoperative risks. Overall, surgical VSD closure might be indicated earlier in neonates with respiratory compromise. [ABSTRACT FROM AUTHOR]

Transcatheter closure of VSD remains a complex procedure in infants with technical challenges and carries the risk of significant complications, due to its complex anatomical morphology and closed proximity to the atrioventricular valves and the conduction system. In this article, we presented transcatheter VSD closure in infants under 10 kg using the Lifetech Konar-MF device via only venous route without TEE guidance and arterial access. Between January 2021 and May 2023, a total of 34 patients weighing less than 10 kg who underwent transcatheter VSD closure antegradely with Lifetech™ Konar-Multifunctional (MF) occluder were included in the study. The mean age of the patients was 8.1 (3.5–35) months. Average weight was 6.5 kg (range 4.5–10 kg). VSD was perimembranous in 27 patients (79.4%). Successful device placement was achieved in all 34 patients. However, device embolization occurred in three patients. One of the patients was successfully implanted with a one size larger device, the surgical closure was performed other two cases. TR occurred in seven patients (20.6%) after releasing devices. None of the patients developed complete heart block. Right bundle branch block developed in two patients. Residual shunt was observed in 9 patients (six small, two moderate, and one large). During follow-up, residual shunt disappeared in six of these patients and only mild residual shunt remained in the other four patients which have not required any further intervention. Transcatheter closure of VSD with Lifetech Konar-MF device is safe and effective in infants less than 10 kg via only venous access with a high success rate and low complication rate. In these patients, transcatheter VSD closure can be performed by excluding the risk of complications that may occur due to AV loop formation, arterial intervention, endotracheal intubation and TEE use. [ABSTRACT FROM AUTHOR]

Objective: In the study, we investigated the genetic etiology of the ventricular septal defect (VSD) and comprehensively evaluated the diagnosis rate of prenatal chromosomal microarray analysis (CMA) and exome sequencing (ES) for VSD to provide evidence for genetic counseling. Methods: We carried out chromosomal microarray analysis (CMA) on 468 fetuses with VSD and exome sequencing (ES) on 51 fetuses. Results: In our cohort, 68 (14.5%) VSD fetuses received a genetic diagnosis, including 61 (13.03%, 61/468) cases with chromosomal abnormalities and seven (13.7%, 7/51) cases with gene sequence variants. The detection rate of total pathogenic and likely pathogenic gene variations in the non-isolated VSD group (61/335, 18.2%, 55 by QF-PCR/karyotype/CMA + 6 by ES) was significantly higher than that in the isolated VSD group (7/133, 5.3%, 6 by QF-PCR/karyotype/ CMA + 1 by ES, p = 0.000). The most common copy number variation (CNV) was 22q11.2 microdeletion syndrome. Additionally, we found six previously unreported variants, which expanded the variation spectrum of VSD-related genes. Conclusion: In this study, CNVs and sequence variants were found in 13.03% and 13.7% of cases, respectively. ES can be recommended for fetuses with VSD without chromosome abnormalities and pathogenic CNVs, especially those that are combined with other ultrasound abnormalities. [ABSTRACT FROM AUTHOR]

Key Clinical Message: We report a 47‐year‐old man who presented with right‐sided heart failure. Transthoracic echocardiography revealed a tunnel‐shaped communication (ventricular septal defect) between the left ventricle and the right ventricle with a significant left‐to‐right shunt. The VSD is connected to the lateral wall of the right ventricle by a large tunnel. [ABSTRACT FROM AUTHOR]

We discuss the case of a 5-month-old male British Shorthair cat referred to our hospital following the detection of a heart murmur during a routine vaccination appointment. Two-dimensional echocardiography revealed a 1.18 mm ventricular septal defect (VSD) located immediately below the aortic valve, without signs of secondary cardiac remodeling. Given the absence of cardiac dysfunction, no treatment was administered, and the cat was periodically monitored over the next 2 years. Echocardiography at 29 months of age revealed no signs of the VSD. Future studies are needed to increase the evidence base for spontaneous VSD closure in small animals. [ABSTRACT FROM AUTHOR]

The ventricular septal defect (VSD) represents the most common congenital heart defect (CHD). The diagnosis of and cardiac surgery for their child's VSD are highly stressful experiences for parents; especially mothers, who are at risk of developing long-lasting stress-related symptoms. This study examined long-term alterations in maternal stress including self-reported psychological and biophysiological stress levels in a case-control design. We investigated 24 mothers of children with an isolated, surgically corrected VSD compared to non-affected controls. Maternal self-reports on psychopathology, everyday stress, parenting stress and hair cortisol concentrations (HCC) were measured during children's primary school age (6–9 years, t1) and early adolescence (10–14 years, t2). In maternal self-reports, psychopathology and stress symptoms in the VSD-group and controls were comparable at t1, whereas at t2, mothers in the VSD-group even showed a decrease in psychopathology. Maternal HCC levels in the VSD-group were significantly lower (hypocortisolism) than HCC levels of controls at t1. This effect was no longer observed at t2 reflecting an approximation of HCC levels in the VSD-group to controls' levels. This study highlights the potential for improved stress hormone balance and psychological well-being in mothers following their child's surgical VSD repair. However, the need for parent-centered interventions is discussed, particularly during peri-operative phases and in early child developmental stages. [ABSTRACT FROM AUTHOR]

Introduction: Ventricular septal defect (VSD) is a mechanical complication of acute myocardial infarction (MI) with a very high mortality, despite advances in surgical and circulatory support. The tremendous hemodynamic disturbance and the severely fragile myocardium render surgical repair a great challenge. The optimal time of surgical repair with or without circulatory support is still controversial. Objective: The aim of this study is to review our experience with early surgical repair of post-MI VSD in a single major cardiac institution in China. Methods: From January 2013 to October 2020, 9consecutive patients presented to our emergency department with a diagnosis of post-MI VSD. Among them, 8 were male, and the mean age was 58 ± 7years. The mean VSD size was 22.5 ± 5.7 mm. In all patients, an intra-aortic balloon pump (IABP)was inserted immediately after admission to cardiac surgery service. All patients were operated at a mean of 3.3 ± 2.9 days, and 4 within 24 h of the rupture (range 1 to 9 days post-VSD). In 5 cases, the VSD was located superiorly, and 4 cases in the posterior septum. Results: The overall 30-day mortality was 11% (1/9). Coronary angiography was performed in all nine patients, four with single vessel disease had coronary stents implanted, and the other five received concomitant coronary artery bypass grafting during VSD repair surgery. There was no death in all 5 patients with anterior septal perforation. One patient with posterior septal perforation died in the operating room due to bleeding from the ventriculotomy site. Three survived patients were diagnosed with a small residual defect and mild left to right shunt post-repair. However, no further intervention was required, and patients remained asymptomatic (Killip II in 1 and III in 2). Conclusion: In our experience, immediate insertion of IABP and hemodynamic stabilization with early surgical intervention of VSD repair and concomitant coronary revascularization provided an 89% survival rate. [ABSTRACT FROM AUTHOR]

Ventricular septal defects (VSD) represent the most common congenital heart defect in newborns. We assessed the electrocardiographic characteristics of newborns with VSDs in a general population sample. The Copenhagen Baby Heart Study is a prospective population–based cohort study offering cardiac evaluation of newborns. Echocardiograms and electrocardiograms were obtained within 30 days after birth and systematically analysed. A VSD was identified in 530 newborns (mean age 11 ± 7 days, 42% boys). Newborns with VSDs had a more left-shifted QRS axis (116 ± 34 vs. 120 ± 3°, p = 0.02), and a higher S-wave amplitude in V1 (721 ± 584 vs. 636 ± 549 µV, p = 0.001) than controls. The largest differences were found in newborns with large or perimembraneous VSDs with a higher frequency of left axis deviation, higher S-wave amplitudes in V1, and higher R- and S-wave amplitudes in V6 compared with controls. R-waves in V1 and V6 were significantly associated to left ventricular mass, whereas S-waves in V1 and V6 were dependent on left ventricular end-diastolic diameter on echocardiography. Conclusion: Newborns with VSDs showed significant differences in QRS axis, and R- and S-wave precordial amplitudes compared to matched controls. Perimembranous and large VSDs had the greatest effect on the neonatal ECG. What is Known: • Ventricular septal defects in newborns are prevalent and may affect cardiac function and structure. What is New: • The Copenhagen Baby Heart Study is the largest study including a cohort of unselected newborns undergoing postnatal cardiac examination. • We found that newborns with VSD showed significant electrocardiographic differences depending on size and type of VSD compared with healthy newborns. [ABSTRACT FROM AUTHOR]

Ventricular septal defect (VSD) can be repaired using cardiopulmonary bypass, resulting in a favorable postoperative outcome with minimal bleeding. Thrombocytopenia-absent radius (TAR) syndrome is rare, occurring in approximately 0.42 out of 100,000 live births. This syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral absent radii. TAR syndrome can be life-threatening within the first 14 months of life due to severe bleeding. In this report, we present the case of a 4-month-old male patient diagnosed with both VSD and TAR syndrome. We describe the surgical management of the VSD as well as the perioperative treatment for hemorrhagic diathesis. [ABSTRACT FROM AUTHOR]

Necropsy of a 52-day-old Camborough pig revealed numerous cardiac malformations. The positional relationship of the atria, ventricles and great vessels was a mirror image type (I, L and L): inverted arrangement of the atria, with a left-sided right atrium and right-sided left atrium (situs inversus); inverted arrangement of the ventricles, with a left-sided morphological right ventricle and right-sided morphological left ventricle (L-loop); and aortic valve to the front left relative to the pulmonary valve (L-malposed). The major malformations included an ostium secundum atrial septal defect, cor triatriatum sinister (CTS), a subpulmonary ventricular septal defect and a bicuspid pulmonary valve. Histological examination revealed myocyte hypertrophy, focal myocardial necrosis and calcification in the left morphological right ventricle of the heart. To the best of our knowledge, this is the first report of CTS in pigs. Although the individual malformations found in the present case are not unique, an unusual combination of these cardiac malformations has not been described in animals. [Display omitted] [ABSTRACT FROM AUTHOR]

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases. [ABSTRACT FROM AUTHOR]

Background: Ventricular septal defect (VSD) is the most common subtype of congenital heart disease. In the present study, we aimed to determine whether chromosome aberration was associated with the occurrence of VSD and evaluate the association of VSD size, location and chromosome aberration with adverse outcomes in the Chinese fetuses. Methods: Fetuses with VSD and comprehensive follow-up data were included and evaluated retrospectively. Medical records were used to collect epidemiological data and foetal outcomes. For VSD fetuses, conventional karyotype and microarray analysis were conducted. After adjusting confounding factors by using multivariable logistic regression analyses, the association between chromosome variations and VSD occurrence was explored. The association between defect size, location and chromosome aberrations and adverse foetal outcomes was also investigated. Results: Chromosome aberration was the risk factor for VSD occurrence, raising 6.5-fold chance of developing VSD. Chromosome aberration, peri-membranous site and large defect size of VSD were significant risk factors of adverse fetal outcome. Chromosome aberrations, including pathogenic copy number variations (CNVs) and variations of uncertain significance (VUS), were both risk factors, increasing the risk of the adverse fetal outcome by 55.9 times and 6.7 times, respectively. The peri-membranous site would increase 5.3-fold risk and defects larger than 5 mm would increase the 7.1-fold risk for poor fetal outcome. Conclusions: The current investigation revealed that chromosomal abnormalities, large defects, and the peri-membranous site were all risk factors for poor fetal outcomes. Our study also indicated that chromosome aberration was one of risk factors for the VSD occurrence. [ABSTRACT FROM AUTHOR]

Background: Maternal body fluids contain abundant cell-free fetal RNAs which have the potential to serve as indicators of fetal development and pathophysiological conditions. In this context, this study aimed to explore the potential diagnostic value of maternal circulating long non-coding RNAs (lncRNAs) in ventricular septal defect (VSD). Methods: The potential of lncRNAs as non-invasive prenatal biomarkers for VSD was evaluated using quantitative polymerase chain reaction (qPCR) and receiver operating characteristic (ROC) curve analysis. The biological processes and regulatory network of these lncRNAs were elucidated through bioinformatics analysis. Results: Three lncRNAs (LINC00598, LINC01551, and GATA3-AS1) were found to be consistent in both maternal plasma and amniotic fluid. These lncRNAs exhibited strong diagnostic performance for VSD, with AUC values of 0.852, 0.957, and 0.864, respectively. The bioinformatics analysis revealed the involvement of these lncRNAs in heart morphogenesis, actin cytoskeleton organization, cell cycle regulation, and protein binding through a competitive endogenous RNA (ceRNA) network at the post-transcriptional level. Conclusion: The cell-free lncRNAs present in the amniotic fluid have the potential to be released into the maternal circulation, making them promising candidates for investigating epigenetic regulation in VSD. [ABSTRACT FROM AUTHOR]

Background: Ventricular septal defect (VSD) is the most prevalent congenital heart disease (CHD) and is easily misdiagnosed or missed. An appropriate VSD animal model could be used to analyze the ultrasound characteristics and their related pathological bases, and provides the opportunity to further explore the pathogenesis of VSD. Currently, little is known about whether ultrahigh-frequency ultrasound biomicroscopy (UBM) is suitable to diagnose VSD of fetal rats. There is no research on whether a dimethadione (DMO)-induced fetal VSD model is suitable for the observation and analysis of imaging characteristics and the associated pathological basis. Methods: We used DMO to induce VSD. UBM was used to perform the prenatal ultrasound characterization. With the pathological results used as the gold standard, the ultrasound characteristics and their related pathological bases were analyzed. Results: The incidence of VSD in the DMO group was 42.05% and 39.71% (diagnosed by UBM and pathology, respectively, P > 0.05). The prenatal ultrasound findings and pathological basis of various diseases, including isolated VSD, complex CHD containing VSD, and extracardiac lesions, were detected and discussed. It was discovered that some fetuses showed features of noncompacted ventricular myocardium, and for the first time, clusters of red blood cell traversing the cardiomyocytes. Conclusions: The DMO-induced VSD model is a low-cost model with a high success rate and is suitable for the observation and analysis of VSD. UBM is suitable for evaluating VSD. [ABSTRACT FROM AUTHOR]

Background and Aims: : Limited data on the survival and outcomes of ventricular septal defect (VSD) in middle-income countries are available. Hence, this study aims to determine the survival and factors associated with mortality among neonatal VSD. Materials and Methods: This is a retrospective, population based study of neonates with isolated VSD born between 2009 and 2019. Kaplan--Meier analysis was used to estimate the overall survival. Cox regression analysis was used to determine factors associated with mortality. Results: There were 726 patients studied, with 82 (11%) of them having trisomy 21. The median age of diagnosis and follow-up was 5 days (interquartile range [IQR]: 2--10 days) and 2.3 years (IQR: 0.6-4.8 years), respectively. Of 726, 399 (55%) were perimembranous, 218 (30%) muscular, and 109 (15%) outlet VSD. VSD was small in 309 (42%), moderate in 337 (46%), and large in 80 (11%). Of 726 patients, 189 (26%) had congestive heart failure (CHF) and 52 (7.2%) developed pulmonary hypertension (PHT). Interestingly, one-third of CHF and PHT resolved over time during follow-up. Only 1 (0.1%) patient had infective endocarditis, 38 (5.2%) developed aortic regurgitation, and none had Eisenmenger syndrome. Overall, 149 (20%) needed surgery, 399 (55%) spontaneously closed, and 178 (25%) remained small. The mortality rate was 3.9% (28), 16 (57%) preoperatively, and 11 (39%) due to pneumonia. Trisomy 21, PHT, and birth weight <2.5 kg were independent factors for mortality with an adjusted hazard ratio of 6.0 (95% confidence interval [CI]: 2.1-16.9), 3.2 (95% CI: 1.2-8.4), and 3.6 (95% CI: 1.7-7.8), respectively. The overall survival at 1, 5, and 10 years was 96% (95% CI: 95-98), 95% (95% CI: 94-97), and 95% (95% CI: 94-97), respectively. Conclusions: Despite limited pediatric and congenital cardiac services in middle-income countries, the overall survival of neonatal VSD is good, with poor outcomes in small infants, PHT, and trisomy 21. [ABSTRACT FROM AUTHOR]

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 ± 6.27 ml/kg/min; unrepaired group: 32.00 ± 5.95 ml/kg/min; control group: 36.76 ± 6.50 ml/kg/min, p < 0.001). There was also significant among-group differences in aerobic capacity (surgically closed group: 21.20 ± 4.39 ml/kg/min; unrepaired group: 21.68 ± 4.47 ml/kg/min; control group: 26.25 ± 4.33 ml/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. [ABSTRACT FROM AUTHOR]

A 5-week-old male child, weighing 4 kg diagnosed with d-transposition of the great arteries with multiple muscular ventricular septal defects, Yacoub's type-A coronary arterial pattern, successfully underwent arterial switch operation with Dacron patch closure of ventricular septal defects under moderately hypothermic cardiopulmonary bypass and St. Thomas based cold blood cardioplegia under integrated extracorporeal membrane oxygenation. Postoperatively, he required mechanical circulatory assistance for 72 h. At 12 months of follow-up, there was no mitral or tricuspid regurgitation, no neoaortic valve insufficiency with good biventricular function in Ross clinical score of 2. [ABSTRACT FROM AUTHOR]

Background: Ventricular septal defect is a common congenital heart disease. As the disease progresses, the likelihood of lung infection and heart failure increases, leading to prolonged hospital stays and an increased likelihood of complications such as nosocomial infections. We aimed to develop a nomogram for predicting hospital stays over 14 days in pediatric patients with ventricular septal defect and to evaluate the predictive power of the nomogram. We hope that nomogram can provide clinicians with more information to identify high-risk groups as soon as possible and give early treatment to reduce hospital stay and complications. Methods: The population of this study was pediatric patients with ventricular septal defect, and data were obtained from the Pediatric Intensive Care Database. The resulting event was a hospital stay longer than 14 days. Variables with a variance inflation factor (VIF) greater than 5 were excluded. Variables were selected using the least absolute shrinkage and selection operator (Lasso), and the selected variables were incorporated into logistic regression to construct a nomogram. The performance of the nomogram was assessed by using the area under the receiver operating characteristic curve (AUC), Decision Curve Analysis (DCA) and calibration curve. Finally, the importance of variables in the model is calculated based on the XGboost method. Results: A total of 705 patients with ventricular septal defect were included in the study. After screening with VIF and Lasso, the variables finally included in the statistical analysis include: Brain Natriuretic Peptide, bicarbonate, fibrinogen, urea, alanine aminotransferase, blood oxygen saturation, systolic blood pressure, respiratory rate, heart rate. The AUC values of nomogram in the trainingcohort and validation cohort were 0.812 and 0.736, respectively. The results of the calibration curve and DCA also indicated that the nomogram had good performance and good clinical application value. Conclusion: The nomogram established by BNP, bicarbonate, fibrinogen, urea, alanine aminotransferase, blood oxygen saturation, systolic blood pressure, respiratory rate, heart rate has good predictive performance and clinical applicability. The nomogram can effectively identify specific populations at risk for adverse outcomes. [ABSTRACT FROM AUTHOR]

Background: It is well known that congenital heart disease, especially a ventricular septal defect, is associated with a high risk of infective endocarditis. There are few reports of infective endocarditis with vegetations extending from the right ventricle into the pulmonary artery, resulting in pulmonary artery embolism. It is also well known that atopic dermatitis can be associated with systemic infections such as infective carditis. Here, we report a patient with a ventricular septal defect and infective endocarditis caused by atopic dermatitis who presented with massively infected vegetations occluding the pulmonary artery and extending from the right ventricle into the pulmonary artery and was treated surgically. Case presentation: A 26-year-old woman with a ventricular septal defect and a history of atopic dermatitis was diagnosed with infective endocarditis with mobile vegetations in the right ventricle, pulmonary artery occlusion caused by massive vegetations, and pulmonary abscesses. Because the obstructing vegetations did not regress with antibiotics, they were removed surgically and the ventricular septal defect was closed. A new causative organism was identified in the vegetation, enabling optimization of the antibiotic regimen. Appropriate antibiotics were administered for 2 months after surgery, resulting in complete resolution of the lung abscesses. Conclusion: Aggressive surgical intervention can be effective in patients with massive vegetations obstructing their pulmonary arteries. [ABSTRACT FROM AUTHOR]

Purpose: In this retrospective study, pediatric patients who underwent surgery for large ventricular septal defect (VSD) with severe pulmonary arterial hypertension (PAH) were evaluated in detail in terms of clinical characteristics, and long-term results, and reinterpreted with the current surgical criteria. Materials and Methods: Twenty-four patients who underwent surgery for large VSD due to PAH between 1994 and 2005 were included in the study. The patients were divided into two groups according to their pulmonary vascular resistance index (PVRI) and compared (group 1 with P VRI < 6 WU.m² a nd g roup 2 w ith P VRI ≥ 6 WU.m²). The patients with PVRI 6-8 WU.m² were accepted as being in the gray zone and were evaluated in detail. Results: Age at diagnosis ranged from 5 months to 17 years (median: 5 years). PVRI ranged between 3 and 18.4 WU.m² (median PVRI was 5 WU.m².) According to the PVRI, 13 patients were accepted as group 1, and 11 patients were accepted as group 2. mPAP, PVR/SVR, and last PAP values were found statistically significantly lower in group 1 than in group 2. The median postoperative follow-up time was 6 years (range, 1 month-18 years). PAH was seen in 15/24 (62.5%) patients. Severe PAH was observed in seven of these 15 patients and all were in group 2 (four had PVRI ≥8WU.m² and three had PVRI 6- 8 WU.m²). Conclusion: Patients with large VSD with severe PAH should be carefully evaluated before surgery to more accurately identify suitable candidates. [ABSTRACT FROM AUTHOR]

Objective: The aim is to study the trends in ventricular septal defect (VSD) mortality in children in Kazakhstan. Methods: The retrospective study was done for the period 2011-2020. Descriptive and analytical methods of epidemiology were applied. The universally acknowledged methodology used in sanitary statistics is used to calculate the extensive, crude, and age-specific mortality rates. Results: Kazakhstan is thought to be seeing an increase in mortality from VSDs in children. As a result, this study for the years 2011 to 2020 was conducted to retrospectively assess data from the central registration of the Bureau of National Statistics that was available throughout the nation. Age-standardized mortality data were obtained and compared between age categories. It was shown that 507 children died from this condition throughout the time period under study. The average annual standardized mortality rate was 1.88 per 100,000 population and tended to decrease over time. The peak of mortality was noted at the age of up to 1 year, namely the neonatal period. Cartogram mortality rates were calculated using standardized indicators. Additionally, age-sex variations were taken into account when performing all calculations. Conclusion: In recent years, the death rate from VSD has declined from 1.5 to 0.6 per 100,000 people, with the trend remaining constant (T = 1.4%, R² = 0.5825). The analysis of mortality trends related to VSD is crucial in both theoretical and practical aspects, as it enables early detection and treatment of VSDs. The findings of this study will be valuable to public health authorities in developing a strategy to treat VSDs effectively. [ABSTRACT FROM AUTHOR]

We present a very rare case of pulmonary atresia and ventricular septal defect with staged definitive repair more than 40 years after palliative surgery. The patient, a 43-year-old male, had undergone a Waterston operation at the age of one and had been untreated since then. Two years ago, he underwent an urgent surgery for impending rupture of a huge pulmonary artery aneurysm. Then, after evaluation of cardiac and pulmonary functions, a definitive repair was performed concomitantly with aortic root replacement for the dilated aortic root. He was discharged uneventfully and received ambulatory care 5 years after surgery. [ABSTRACT FROM AUTHOR]

Objective: To find out the prevalence and pattern of congenital heart diseases (CHDs) in children with Down syndrome (DS). Study Design: Cross-sectional study. Setting: Department of Pediatrics, Rai Medical College Teaching Hospital, Sargodha, Pakistan. Period: January 2021 to December 2022. Material & Methods: A total of 165 children of either gender, aged 1 month to 12 years with DS diagnosed with the help of typical clinical features and confirmation by cytogenetic studies were analyzed. Children diagnosed with DS were further evaluated for cardiac assessment as per 2-D echocardiographic and Doppler examinations. The prevalence of CHDs was noted among children with DS. Results: In a total of 165 children with DS, 86 (52.1%) were male. The mean age was noted to be 1.8±1.2 years while 106 (64.2%) children were aged below 1 year. The existence of CHDs was found to be in 56 (33.9%). Among 56 children with CHDs, ventricular septal defect (VSD), atrial septal defect (ASD) and tetralogy of fallot (TOF) were the commonest forms of CHDs noted in 16 (28.6%), 12 (21.4%) and 9 (16.1%) children respectively. Conclusion: High prevalence of CHDs in children with Down syndrome was noted. The VSD and ASD were the most common forms of CHDs among children with Down syndrome. [ABSTRACT FROM AUTHOR]

Background: Ventricular septal defect (VSD) is the commonest type of congenital heart lesion accounting for up to 40% of congenital heart defects. Well timed VSD closures are reported to yield excellent long-term outcomes. Late surgical VSD closures, particularly from the developing countries, are infrequently reported. Case presentation: We report three cases of African children aged between 13 and 14 years who had late VSD presentations. They reported complaints of growth failure and recurrent respiratory infections since early infancy which necessitated frequent visits to primary health care facilities. They were found to have large ventricular septal defects by thoracic echocardiography. Diagnostic cardiac catheterization was done to all three patients to rule out irreversible pulmonary hypertension. After promising cardiac catheterization findings, they all underwent successful surgical VSD repair with good early outcomes. Conclusion: VSD surgical closure is ideal in children below 2 years, however, it can be done in children who present at advanced age despite being considered high risk patients. All three of our patients who presented late had successful surgical VSD repairs with promising immediate outcome. The role of genetics in the protection against developing irreversible pulmonary vascular disease in these patients is a possible area for future studies. [ABSTRACT FROM AUTHOR]

Background/Aim: Ventricular septal defect (VSD) is the most common congenital heart anomaly that in many cases closes spontaneously. The spontaneous closure (SC) rate of VSD varies widely between studies. The aim of this study was to identify clinical and echocardiographic factors influencing SC of isolated VSD in the first year of life among a group of patients presented at the Paediatric Clinic. Methods: Prospective study was performed in 60 consecutive patients with trivial, small or medium isolated VSD during the first year of life. Patients were divided into groups, according to gender and gestational age of the patient, type, number and the size of the defect and persistence of pulmonary hypertension. The size of defect was described in comparison to the diameter of the aortic annulus (VSD/Ao ratio). Results: At the time of diagnosis, the mean VSD/Ao ratio was 0.33 mm. Muscular VSD was more common (76.7 %) than perimembranous (23.3 %). SC of VSD occurred in 60 % of all patients, in case of muscular defect in 73.9 % and in case of perimembranous in 14.3 %. There was a negative correlation between defect size and SC rate. SC probability for a given defect size was described by the formula: probability = -1.82933X+1.20145. None defect with pulmonary hypertension closed. Conclusion: It was found that type and size of VSD and the persistence of pulmonary hypertension were significant predictors for SC, while gender and gestational age of the patient and the number of defects were not. This study can be useful in predicting the natural outcome of the VSD to make proper follow-up and management plans. [ABSTRACT FROM AUTHOR]

[Display omitted] Although the use of bioabsorbable occluder is expected to reduce the risk of metal occluder-related complications, it has not been approved due to incomplete degradation and new complications. Novel fully bioabsorbable occluders were designed to overcome such limitations. The aim of this study was to investigate the efficacy and safety of a fully biodegradable occluder in patients with ventricular septal defects. 125 patients with perimembranous ventricular septal defect (VSD) larger than 3 mm were screened from April 2019 to January 2020 in seven centers. 108 patients were enrolled and randomized into the bioabsorbable occluder group (n = 54 patients) and nitinol occluder group (n = 54). A non-inferiority design was utilized and all patients underwent transcatheter device occlusion. Outcomes were analyzed with a 24-month follow-up. All patients were successfully implanted and completed the trial. No residual shunt >2 mm was observed during follow-up. Transthoracic echocardiography showed a hyperechoic area corresponding to the bioabsorbable occluder which decreased primarily during the first year after implantation and disappeared within 24 months. Postprocedural arrhythmia was the only occluder-related complication with an incidence of 5.56% and 14.81% for the bioabsorbable and nitinol groups, respectively (P = 0.112). The incidence of sustained conduction block was lower in the bioabsorbable occluder group (0/54 vs. 6/54, P = 0.036) at 24-month follow-up. In conclusion, the novel fully bioabsorbable occluder can be successfully and safely implanted under echocardiography guidance and reduce the incidence of sustained postprocedural arrythmia. The efficacy and safety of this fully biodegradable occluder are non-inferior to that of a traditional nitinol one. [ABSTRACT FROM AUTHOR]

Background : Polytetrafluoroethylene (PTFE) patch is commonly used during surgical closure for atrial septal defect (ASD) and ventricular septal defect (VSD). However, this patch has several limitations such as its inability to grow or remodel, especially in children and young adults. To tackle these limitations, we have tried to use fibronectin and human adipose-derived mesenchymal stem cells (hAMSCs) in the PTFE patch. Objective : To understand the impact of fibronectin to enhance hAMSCs cell-to-cell adherence and cell-to-patch surface attachment into PTFE patches used in the surgical closure of ASD or VSD. Materials and Methods : The hAMSCs were plated and fixated with 15 mL methanol and cluster of differentiation (CD) 90+, CD105+, and CD45 - antibodies were labeled with fluorescein isothiocyanate, rinsed with phosphate-buffered saline, and analyzed under a fluorescence microscope. Fibronectin solution (0.1%) was used to soak patch scaffolds for approximately 2-h duration and then dried for 20 min in the treatment group. The samples were examined with a scanning electron microscope (SEM). Results : SEM examination showed incomplete attachment of the cells even after 10 days in the control group at 1.14 ± 1.13. In contrast, the treatment group showed more cells attached to the patch surface at 31.25 ± 13.28 (P ≤ 0.0001). The observation at 5 days was 17.67 ± 20.21, at 7 days was 12.11 ± 10.94, and at 10 days was 18.83 ± 23.25. There was no significant statistical difference in mean cell per view among each treatment group (P = 0.802). Conclusion : Our work demonstrates that fibronectin has a positive impact on hAMSC attachment seeded onto the PTFE patch. These properties, in combination with their developmental plasticity, have generated tremendous interest in regenerative medicine. [ABSTRACT FROM AUTHOR]