Ventricular septal defect complicating acute myocardial infarction: diagnosis and management. A Clinical Consensus Statement of the Association for Acute CardioVascular Care (ACVC) of the ESC, the European Association of Percutaneous Cardiovascular Interventions (EAPCI) of the ESC and the ESC Working Group on Cardiovascular Surgery.

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.

Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing.

INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: This novel study directly screens genetic variations associated with Tibetan familial VSD using whole-exome sequencing, providing new insights into the pathogenesis of VSD.

Risk Factors of Long-Term Sequelae After Transcatheter Closure of Perimembranous Ventricular Septal Defect in Young Children.

BACKGROUND: Complications arising from transcatheter closure of perimembranous ventricular septal defects (pmVSD) in children, such as residual shunts and aortic regurgitation (AR), have been observed. However, the associated risk factors remain unclear. This study identified risk factors linked with residual shunts and AR following transcatheter closure of pmVSD in children aged 2-12 years.Methods and Results: The medical records of 63 children with pmVSD and a pulmonary-to-systemic blood flow ratio <2.0 who underwent transcatheter closure between 2011 and 2018 were analyzed with a minimum 3-year follow-up. The success rate of transcatheter closure was 98.4%, with no emergency surgery, permanent high-degree atrioventricular block, or mortality. Defects ≥4.5 mm had significantly higher odds of persistent residual shunt (odds ratio [OR] 6.85; P=0.03). The use of an oversize device (≥1.5 mm) showed a trend towards reducing residual shunts (OR 0.23; P=0.06). Age <4 years (OR 27.38; 95% confidence interval [CI] 2.33-321.68) and perimembranous outlet-type VSD (OR 11.94, 95% CI 1.10-129.81) were independent risk factors for AR progression after closure. CONCLUSIONS: Careful attention is crucial for pmVSDs ≥4.5 mm to prevent persistent residual shunts in transcatheter closure. Assessing AR risk, particularly in children aged <4 years, is essential while considering the benefits of pmVSD closure.

Procedural Efficiencies and Clinical Outcomes for Transcatheter Device Closure of Perimembranous Ventricular Septal Defects With Different Waist-Length Occluders.

BACKGROUND: Potential differences in complications and/or long-term outcomes of perimembranous ventricular septal defect (pmVSD) closures with 3-mm waist vs. 4-mm waist double-disk symmetrical occluders are not known.Methods and Results: A total of 395 consecutive pediatric patients with pmVSD recruited between January 2017 and March 2021 underwent successful transcatheter closure using symmetrical pmVSD devices. The final analysis involved 208×3-mm and 172×4-mm cases. The median follow-up was 42 months (range: 12-62 months). A total of 175 post-procedure adverse events (AEs) were observed. Most of these AEs were temporary, and there were only 8 major AEs. Compared to the 3-mm waist group, the incidence of residual shunts was significantly higher in the 4-mm waist group (13.4% vs. 6.7%; P=0.030), whereas other AEs showed similar incidences between the 2 groups. Multivariate Cox regression analysis revealed that larger defect, higher ratio between device size and body surface area, and longer procedure time can cause an increased likelihood of AEs, and smaller defect or left disk placement within aneurysmal tissue may reduce it. CONCLUSIONS: Transcatheter closure of pmVSD using a symmetrical double-disk occluder is safe and effective. Compared with a 3-mm waist symmetrical occluder, transcatheter closure with a 4-mm waist symmetrical occluder correlated with higher incidences of residual shunts.

Effect of Ciprofol on Left Ventricular Myocardial Strain and Myocardial Work in Children Undergoing Cardiac Surgery: A Single-center Double-blind Randomized Noninferiority Study.

OBJECTIVE: The current work was designed to compare the effects of ciprofol and propofol on left ventricular systolic function and myocardial work by noninvasive speckle-tracking echocardiography in children undergoing surgical repair of atrial septal or ventricular septal defects. DESIGN: A single-center double-blind randomized noninferiority study was conducted. SETTING: The research occurred at a tertiary care center affiliated with Shanghai Jiao Tong University, China. PARTICIPANTS: One hundred and twelve children aged 1 month to 16 years undergoing atrial septal or ventricular septal defect surgery with cardiopulmonary bypass were included. INTERVENTIONS: One hundred and twelve children were allocated randomly to receive ciprofol (n = 67) or propofol (n = 45) in a 1.5:1 ratio. Ciprofol or propofol were intravenously infused at loading doses of 0.4 mg/kg or 2.0 mg/kg, respectively, over 30 seconds, depending on the physical condition of each patient. When the bispectral index was maintained between 45 and 55 after induction, transthoracic echocardiography, including apical two-chamber, three-chamber, and four-chamber views, were collected bedside. MEASUREMENTS AND MAIN RESULTS: Of the 112 patients enrolled, 104 completed the study. Global longitudinal strain in the ciprofol and propofol groups after anesthesia was -17.3% (95% confidence interval [CI] -18.0% to -16.6%) and -17.8% (95% CI -18.7 to -17.0%) in the full analysis set and -17.5% (95% CI -18.2% to -16.9%) and -17.8% (95% CI -18.7% to -17.0%) in the per-protocol set, respectively. The noninferiority margin was set at 2% and confirmed with a lower limit of two-sided 95% CI for the intergroup difference of 1.58% in the full analysis set and 1.34% in the per-protocol set. There were no significant differences between the groups in left ventricular systolic and diastolic function and myocardial work indices. Postoperative vasoactive-inotropic score, NT-proBNP, duration of mechanical ventilation, and the length of stay in the cardiac intensive care unit and hospital were also comparable between the two groups (all p > 0.05). CONCLUSIONS: Ciprofol did not show different effects on myocardial function and postoperative outcomes from propofol. Further, on the sensitive cardiac systole marker global longitudinal strain, ciprofol demonstrated noninferiority to propofol. Ciprofol might be an alternative solution for cardiac anesthesia in children with congestive heart disease with mild lesion.

Clinical Presentation and Therapy of Ventricular Septal Defect.

Ventricular septal defects (VSDs) occur in 1.5-3.5 of 1000 live births and constitutes 20 % of congenital cardiac defects. There is no gender predominance.

Ventricular Septal Defects: Molecular Pathways and Animal Models.

Ventricular septation is a complex process which involves the major genes of cardiac development, acting on myocardial cells from first and second heart fields, and on mesenchymal cells from endocardial cushions. These genes, coding for transcription factors, interact with each other, and their differential expression conditions the severity of the phenotype. In this chapter, we will describe the formation of the ventricular septum in the normal heart, as well as the molecular mechanisms leading to the four main anatomic types of ventricular septal defects: outlet, inlet, muscular, and central perimembranous, resulting from failure of development of the different parts of the ventricular septum. Experiments on animal models, particularly transgenic mouse lines, have helped us to decipher the molecular determinants of ventricular septation. However, a precise description of the anatomic phenotypes found in these models is mandatory to achieve a better comprehension of the complex mechanisms responsible for the various types of VSDs.

Human Genetics of Tricuspid Atresia and Univentricular Heart.

Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the rarity of familial and/or isolated cases of TA, little is known about the potential genetic abnormalities contributing to this condition. Potential responsible chromosomal abnormalities were identified in exploratory studies and include deletions in 22q11, 4q31, 8p23, and 3p as well as trisomies 13 and 18. In parallel, potential culprit genes include the ZFPM2, HEY2, NFATC1, NKX2-5, MYH6, and KLF13 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. The large variability in phenotypes and genotypes among cases of TA suggests a genetic network that involves many components yet to be unraveled.

Human Genetics of Ventricular Septal Defect.

Ventricular septal defects (VSDs) are recognized as one of the commonest congenital heart diseases (CHD), accounting for up to 40% of all cardiac malformations, and occur as isolated CHDs as well as together with other cardiac and extracardiac congenital malformations in individual patients and families. The genetic etiology of VSD is complex and extraordinarily heterogeneous. Chromosomal abnormalities such as aneuploidy and structural variations as well as rare point mutations in various genes have been reported to be associated with this cardiac defect. This includes both well-defined syndromes with known genetic cause (e.g., DiGeorge syndrome and Holt-Oram syndrome) and so far undefined syndromic forms characterized by unspecific symptoms. Mutations in genes encoding cardiac transcription factors (e.g., NKX2-5 and GATA4) and signaling molecules (e.g., CFC1) have been most frequently found in VSD cases. Moreover, new high-resolution methods such as comparative genomic hybridization enabled the discovery of a high number of different copy number variations, leading to gain or loss of chromosomal regions often containing multiple genes, in patients with VSD. In this chapter, we will describe the broad genetic heterogeneity observed in VSD patients considering recent advances in this field.

Transcatheter Ventricular Septal Defect Closure with Lifetech™ Konar-MF Occluder in Infants Under 10 kg with Only Using Venous Access.

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.

Percutaneous Closure of Hemodynamically Significant Postoperative Residual Ventricular Septal Defects.

The experience with percutaneous closure of postoperative residual ventricular septal defects (VSDs) is expanding with improved device technology and techniques. To report our experience with percutaneous closure of residual VSDs after cardiac surgeries. Retrospective clinical data review of patients who had percutaneous closure of postoperative residual VSDs at our institution between 2010 and 2022. Patients' demographics, procedural, and follow-up data were looked at. Twelve patients (50% males) with a median age of 9.2 years (range 0.9-22) were identified. Baseline surgeries were 8 tetralogy of Fallot corrections, 2 pulmonary bandings for large muscular VSD (mVSD) including 1 coarctation repair, 1 atrioventricular septal defect repair, 1 sub-aortic membrane resection-induced iatrogenic VSD, 1 isolated VSD closure, and 1 additional mVSD. Median duration between baseline surgery and percutaneous VSD closure was 2.2 years (range 0.2-8.3). Residual VSD shunting was secondary to surgical patch leakage in 8/12 patients. The median angiographic defect diameter was 6.8 mm (range 4.8-14). The defect was balloon-calibrated in 3/12 patients. Defects were tackled retrogradely in 3/9 patients. Amplatzer Membranous VSD occluder (n = 1), Lifetech Multifunctional (n = 5), Membranous (n = 1) and muscular VSD occluders (n = 2) and Occlutech Membranous (n = 1) and Muscular (n = 2) VSD occluders were used. The procedure was successful in 10/12 patients. Two devices embolized to the pulmonary artery and were snare-retrieved. Both patients were referred for surgery. The median follow-up was 1.3 years (range 0.1-12). Six-month ultrasound showed one trivial residual shunt and one mild right ventricular outflow obstruction. One patient is receiving targeted therapy for pulmonary hypertension at 2 years of follow-up. Transcatheter closure of postoperative residual VSDs is a feasible yet challenging intervention. Procedural complications can be encountered.

Predictive Scoring System for Spontaneous Closure of Infant Ventricular Septal Defect: The P-VSD Score.

Ventricular septal defect (VSD) is a common congenital heart disease. However, consensus on the utility of echocardiography in predicting spontaneous closure (SC) of VSD remains lacking. This study aimed to identify and validate significant predictors of SC through a predictive scoring system. This retrospective study included medical records of 712 echocardiography instances performed on 304 patients diagnosed with VSD from 2016 to 2020 in their first year of life. A novel scoring system for predicting the SC of VSD was developed and validated using another dataset from different hospitals. Of the 304 patients, 215 (70.7%) had perimembranous (PM) VSDs and 89 had muscular (29.3%) VSDs. The median follow-up periods were 36.2 (interquartile range [IQR], 13-59) months and 13.7 9 (IQR, 5-37.4) days for PM and muscular VSDs, respectively. The overall SC rate during follow-up was 29.3%. Pulmonary hypertension (HTN), concomitant left ventricle (LV)-right atrium (RA) shunt, VSD size to aortic valve (AV) annulus size ratio, and left ventricular end-diastolic dimension (LVEDD) z-score were significant risk factors affecting SC of VSD. The "P-VSD" score, a new scoring system, demonstrated an area under the curve for predictability of 0.769. Pulmonary HTN, concomitant LV-RA shunt, LVEDD z-score, and VSD size-to-AV annulus size ratio at diagnosis were significantly associated with non-SC VSD after infancy. The P-VSD score can predict the SC of VSD in clinical settings and simplify the identification and appropriate management of high-risk patients.

A Retrospective Study in Occluding Sub-arterial Ventricular Septal Defect.

To assess the safety and effectiveness of utilizing eccentric occlusion for the treatment of sub-arterial ventricular septal defects, we performed a retrospective study on the classification and analysis of relevant cases. A total of 105 patients with a minimally invasive incision were enrolled in this study, from April 2018 to September 2022. All patients underwent treatment of transthoracic sub-arterial ventricular septal defect occlusion. We analyzed the causes of closure failure, indication, and complication. Briefly, the closure device was successfully implanted in 78 cases (74.2%) with a mean age of 31.4 ± 31.8 months, VSD size of 4.3 ± 0.9 mm, and device size of 6.0 ± 1.1 mm. However, 27 cases (25.8%) required cardiopulmonary bypass due to failure of occlusion. The reasons for failure included 13 cases with worsened aortic regurgitation, two cases with worsened aortic valve prolapse, one case with worsened mitral regurgitation, eight cases with significant residual shunt, and three cases with deviated occlusion morphology. During the 1-36-month follow-up visit, no cases experienced displacement of the eccentric umbrella, shedding, or arrhythmia. All residual shunts resolved during the visit. We concluded that occlusion for sub-arterial VSD has sufficient security and feasibility, under the strict control of surgical indications, appropriate choice of occluder and precise perioperative management.

Follow-Up of Secundum ASD, Muscular VSD, or PDA Diagnosed During Neonatal Hospitalization.

The ideal follow-up of neonates who have a secundum atrial septal defect (ASD), muscular ventricular septal defect (VSD), or patent ductus arteriosus (PDA) remains uncertain. Newborns with findings limited to a secundum ASD, muscular VSD, and/or PDA on their neonatal hospitalization discharge echocardiogram and at least one outpatient follow-up echocardiogram performed between 9-1-17 and 9-1-21 were evaluated and patient follow-up assessed through 9-1-23. 95 infants met inclusion criteria. 43 infants had a secundum ASD, 41 had a muscular VSD, and 54 had a PDA at newborn hospital discharge. 39/95 had more than one intracardiac shunt. 56 were discharged from care, 26 were still in follow-up and 13 were lost to recommended follow-up. No patients received intervention during the follow-up period of 2 to 6 years. Of the 43 infants with a secundum ASD, 16 (37.2%) had demonstrated closure of the ASD, and 13 (30.2%) were discharged from care with an ASD < 3.5 mm in diameter. 3/43 infants with secundum ASD had a defect with a diameter of more than 5 mm at their last echocardiogram. No infant discharged from their neonatal hospitalization with a secundum ASD, muscular VSD, or PDA needed any intervention from 2 to 6 years of follow-up. Ongoing follow-up with echocardiography of those infants with a secundum ASD is of greater value than of those with muscular VSD or PDA.

Left Ventricular Dysfunction Following Repair of Ventricular Septal Defects in Infants.

Left ventricular systolic dysfunction (LVSD) is frequently observed following repair of ventricular septal defects (VSD), although little is known about its incidence, time course, or risk factors. Among infants undergoing VSD repair, for postoperative LVSD, we sought to determine (1) incidence, (2) predictors, and (3) time to resolution. We queried our institution's surgical database for infants who underwent repair of isolated VSDs from November 2001 through January 2019. The primary outcome was postoperative LVSD, which was defined as a shortening fraction (SF) of <26% by M-mode. Postoperative echocardiograms were reviewed, and measurements were made using standard methods. Receiver operating characteristic analysis was generated to determine the preoperative left ventricular internal dimension (LVIDd) z-score most predictive of LVSD. Multivariable analysis was conducted to determine associations with LVSD; covariates in the model were weight percentile, genetic syndrome, preoperative diuretic, VSD type, and preoperative LVIDd z-score. Of the 164 patients who met inclusion criteria, 62 (38%) had postoperative LVSD. Fifty-eight (94%) of patients had resolution of LVSD within 9 months of surgery. Preoperative LVIDd z-score of >3.1 was associated with both an increased incidence of postoperative LVSD and prolonged time to resolution. Multivariable logistic regression analysis showed only preoperative LVIDd z-score was independently associated with postoperative LVSD. LVSD following VSD closure is common, but nearly all cases resolve by 9 months postoperatively. Elevated LVIDd prior to surgery is associated with postoperative LVSD. These data suggest VSD closure should be considered prior to the development of significant left ventricular dilation.

Clinical Course of Residual Ventricular Septal Defects After Congenital Heart Disease Repair.

The clinical course of residual ventricular septal defects after congenital heart disease repair is not completely elucidated in the medical literature. This study assessed the incidence, size, and clinical course of residual defects.This single-center retrospective study included 132 patients who survived after ventricular septal defect patch closure (n = 107) and intracardiac repair of double-outlet right ventricle (n = 16) and tetralogy of Fallot (n = 9). Residual defect was evaluated on transthoracic echocardiogram upon hospital discharge and at outpatient clinic visits.The median age at surgery was 1.2 (0.3-13.9) years. In total, 45 (34.1%) patients presented with residual defects upon hospital discharge. The residual defects were within 2 mm (n = 27), 2-3 mm (n = 15), and > 3 mm (n = 3), and the median size was 1.5 (0.5-3.8) mm. There was no late mortality during a median follow-up of 5.4 years. Among 42 residual defects measuring < 3 mm upon hospital discharge, 37 (82.2%) spontaneously closed. Further, five defects decreased in size (1.8 ± 0.6 mm upon hospital discharge vs1.2 ± 0.8 mm at the latest visits, p = 0.15). However, the size of three residual defects measuring > 3 mm upon hospital discharge increased, and two patients required re-surgery for residual defect.Significant residual defect requiring reoperation was rare. In most cases, residual defects measuring < 3 mm upon hospital discharge spontaneously closed within 5 years, and the size of the other defects decreased.

Early Clinical Outcomes in Infants with Prenatally Diagnosed Perimembranous and Muscular Ventricular Septal Defects (VSDs).

Isolated ventricular septal defect (VSD) is often associated with good clinical outcomes. However, infants prenatally diagnosed with VSD are often recommended for delivery at tertiary care centers. The aim of our study was to determine the odds of neonatal intensive care unit (NICU) admission in infants with persistent isolated VSD and complicated VSD, where an infant is affected by VSD and other genetic/structural abnormalities. We performed a retrospective cohort study, with data collected from a single academic institution from June 2018 to March 2023. Individuals with prenatally diagnosed VSD, in the absence of any other heart defects, were included in this study. The primary outcome was admission to the NICU. Multivariable logistic regression was used to assess associations. The association between persistence of VSD and NICU admission was adjusted for maternal age, fetal genetic abnormalities, fetal extracardiac abnormalities, and gestational age at the time of delivery. The association between complicated VSD and NICU admission was adjusted for maternal age and gestational age of the infant at the time of delivery. The odds of NICU admission were similar in infants with persistent isolated VSD and VSD that closed in utero (adjusted OR 1.31, 95% CI 0.30-5.61). However, infants with complicated VSD were at increased risk of NICU admission (adjusted OR 15.52, 95% CI 2.90-82.92). The risk of NICU admission was only increased in infants whose VSD was complicated by another genetic/major structural abnormalities. Therefore, women whose infants are prenatally diagnosed with VSD alone may not require delivery at tertiary care centers.

Transcatheter Closure of Perimembranous Ventricular Septal Defect Using KONAR-MF™: A Multicenter Experience.

Transcatheter closure of perimembranous ventricular septal defect (PmVSD) is an established procedure. However, the occurrence of complete heart block limits its scope. The newer KONAR-MF™ occluder has specific design characteristics that may improve the safety of PmVSD closure. The objective of the study was to describe the efficacy and mid-term follow-up of transcatheter closure of PmVSD using KONAR-MF™. The study was conducted prospectively in 3 Indian centers (January 2018-December 2022). PmVSD closure was done by both antegrade and retrograde methods, and patients were followed up at 1, 3, 6, 12 months, and annually after that. 121 out of 123 patients were included with the following characteristics: median age 4.4 (0.18-40) years; weight 15 (2.1-88) kg; mean Qp/Qs ratio 1.87 ± 0.52 and pulmonary artery mean pressure: 22 ± 6.9 mmHg. The procedure was successful in all but 3; the device was removed due to significant residual shunt (n = 2) and new development of aortic regurgitation (AR) (≥ mild) in 1. The median defect size was 5.2 (2.5-12) mm. Device sizes from 6/4 to 14/12 were deployed (median fluoroscopy time 13.3 min; range 3.6-47.8). Shunt occlusion rates were 90%-Immediate, 95%-pre-discharge, and 97%-1 month, with no instances of complete heart block after the procedure and during follow-up. Six had new onset AR (mild: 2, trivial 4), and one had increased tricuspid regurgitation. All patients were well during follow-up (median: 20 months; range: 6-46). The new KONAR-MF™ occluder appears to be a promising and safe alternative for the closure of the PmVSD; further long-term follow is merited.

How do Age at the Surgery and Birth Weight Influence Post-Operative Anthropometric Parameters in Infants with Surgical Closure of Large Ventricular Septal Defects? A Prospective Cohort Study from a Lower-Middle-Income Country.

Closure of the large ventricular septal defects (VSD) in infancy can lead to normalization of growth, but data are limited. Our study is done to assess the growth pattern in different age groups of children and lower birth weight babies after shunt closure. This is a prospective observational study that included infants with isolated large VSD operated in infancy. Anthropometric data were collected at baseline and at follow-up, and growth patterns were analyzed. 99 infants were included in the study. The mean age and weight at the time of surgery were 6.97 ± 2.79 months and 5.07 ± 1.16 kg, respectively. The mean follow-up duration was 8.99 ± 2.31 months. The weight for age (W/A) was the most adversely affected parameter preoperatively, and there was significant improvement noted in the mean Z score for W/A after shunt closure (- 3.67 ± 1.18 vs. - 1.76 ± 1.14, p = 0.0012). There was improvement in Z-scores for length for age (L/A) and weight for length (W/L), although it was not statistically significant. The infants from all the age groups had statistically significant growth in the anthropometric parameters. The rate of weight gain was maximum in the infants operated below 8 months of age (2-4 months = 3588 g, 5-6 months = 3592 g, 7-8 months = 3606 g, 9-10 months = 2590 g, 11-12 months = 2250 g). Low birth weight and normal birth weight infants had similar Z-scores at the time of surgery and at follow-up in all 3 anthropometric parameters, and birth weight did not affect pre- as well as post-operative growth parameters. Suboptimal improvement in weight and length was seen in 40 and 20% of babies even after successful surgical repair, respectively. Growth failure in infants with a large VSD can be multifactorial. Early surgical closure of the shunt can lead to early normalization of growth parameters and faster catch-up growth. Few babies may fail to demonstrate a positive growth response even after timely surgical correction, and may be related to intrauterine and genetic factors or faulty feeding habits.

Correlation between types of ventricular septal defect and chromosomal abnormalities in low-risk non-invasive prenatal testing.

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.