Search Results (15)

Background/Objectives: Patients with cardiogenic shock on veno-arterial extracorporeal membrane oxygenation (VA-ECMO) frequently develop left ventricular (LV) distension and pulmonary edema due to an increased LV afterload. A balloon atrial septostomy (BAS) is a technique used to alleviate LV pressure and facilitate left atrial decompression. While primarily performed in pediatric populations, this procedure’s feasibility in adult patients is less studied. This study aimed to evaluate the procedural outcomes, including the safety and effectiveness, of BASs in adult patients with cardiogenic shock supported by VA-ECMO. Methods: This single-center retrospective study included 11 adult patients with cardiogenic shock on VA-ECMO, who underwent a BAS between 2012 and 2023. Multiple parameters were used to evaluate the global clinical impact of a BAS on patients with cardiogenic shock. Results: Between 2012 and 2023, 11 patients with cardiogenic shock on VA-ECMO underwent a BAS procedure in our institution. The mean time from the BAS to advanced therapy was 6.4 days. Procedural success was achieved in all patients with no complications. Nine patients (82%) had an improvement in PaO₂/FiO₂ 24 h post-BAS procedure. All patients had an improvement in the pulmonary edema on the chest X-ray 24 to 48 h after the procedure, with clear radiography achieved in nine patients (82%) in a mean time of 7 days (range: 1.5–13 days). A total of five patients (45%) had in-hospital mortality due to non-procedural complications and the mortality timing from BAS was between 5 to 23 days. Among those discharged, all six patients were alive at the 1-year follow-up. Conclusions: A BAS is a feasible and safe technique for decompressing the left atrium in adult patients on VA-ECMO. It significantly improved pulmonary edema and oxygenation in most cases. Further studies with larger populations are needed to evaluate its impact on long-term outcomes. Full article

Dextro-transposition of the great arteries (D-TGA) is a critical congenital heart defect that can impact neurodevelopment due to cerebral perfusion and oxygenation disorders followed by alterations in synaptogenesis, gyrification, sulcation, and the microstructure. Brain injuries can occur both pre-operatively and postoperatively, especially white matter injuries, neuronal loss, and stroke. Materials and Methods: In a retrospective study conducted at a tertiary center between 2016 and 2023, we investigated the early effects of Prostaglandin E1 (PGE1) administration and balloon atrial septostomy (BAS) on cerebral blood flow and oxygenation in inborn neonates with D-TGA. Cerebral Doppler Ultrasound in the anterior cerebral artery (ACA) was performed to assess the resistive index (RI), Peak Systolic Velocity (PSV), and End-Diastolic Velocity (EVD) before PGE1, before the BAS procedure, and 24 h after birth. Cerebral regional saturations of oxygen (crSO₂) and cerebral fractional tissue oxygen extraction (cFTOE) were evaluated. D-TGA patients were divided into the PGE1 group and the PGE1 + BAS group. Age-matched healthy controls were used for comparison. Results: All 83 D-TGA newborns received PGE1 within two hours after delivery, of whom 46 (55.42%) underwent BAS. In addition, 77 newborns composed the control group. PGE1 administration increased crSO₂ from 47% to 50% in the PGE1 group, but lower than in controls at 24 h of life, while cFTOE remained elevated. The RI increased 24 h after delivery (0.718 vs. 0.769; p = 0.000002) due to decreased EDV (10.71 vs. 8.74; p < 0.0001) following PGE1 treatment. The BAS procedure resulted in a significant increase in crSO₂ from 42% to 51% at 24 h of life in the PGE1 + BAS group. Doppler parameters exhibited a similar trend as observed in the PGE1 group. Conclusions: PGE1 treatment and BAS are lifesaving interventions that may improve cerebral perfusion and oxygenation in newborns with D-TGA during the transition period, as reflected by increasing SpO₂ and crSO₂. Full article

Dextro-transposition of the great arteries (D-TGA) is the second most common cyanotic heart disease, accounting for 5–7% of all congenital heart defects (CHDs). It is characterized by ventriculoarterial (VA) connection discordance, atrioventricular (AV) concordance, and a parallel relationship with D-TGA. As a result, the pulmonary and systemic circulations are separated [the morphological right ventricle (RV) is connected to the aorta and the morphological left ventricle (LV) is connected to the pulmonary artery]. This anomaly is included in the group of developmental disorders of embryonic heart conotruncal irregularities, and their pathogenesis is multifactorial. The anomaly’s development is influenced by genetic, epigenetic, and environmental factors. It can occur either as an isolated anomaly, or in association with other cardiac defects. The typical concomitant cardiac anomalies that may occur in patients with D-TGA include ventriculoseptal defects, patent ductus arteriosus, left ventricular outflow tract obstruction (LVOTO), mitral and tricuspid valve abnormalities, and coronary artery variations. Correction of the defect during infancy is the preferred treatment for D-TGA. Balloon atrial septostomy (BAS) is necessary prior to the operation. The recommended surgical correction methods include arterial switch operation (ASO) and atrial switch operation (AtrSR), as well as the Rastelli and Nikaidoh procedures. The most common postoperative complications include coronary artery stenosis, neoaortic root dilation, neoaortic insufficiency and neopulmonic stenosis, right ventricular (RV) outflow tract obstruction (RVOTO), left ventricular (LV) dysfunction, arrhythmias, and heart failure. Early diagnosis and treatment of D-TGA is paramount to the prognosis of the patient. Improved surgical techniques have made it possible for patients with D-TGA to survive into adulthood. Full article

Fibrillin-1 and fibrillin-2, encoded by FBN1 and FBN2, respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families. We performed clinical phenotyping for two newborn infants with complex congenital heart defects. For genetic investigations, we employed next-generation sequencing strategies including whole-genome Single-Nucleotide Polymorphism (SNP) microarray for infant A with valvular insufficiency, aortic sinus dilatation, hydronephrosis, and dysmorphic features, and Trio whole-exome sequencing (WES) for infant B with dextro-transposition of the great arteries (D-TGA) and both parents. Infant A is a term male with neonatal marfanoid features, left-sided hydronephrosis, and complex congenital heart defects including tricuspid regurgitation, aortic sinus dilatation, patent foramen ovale, patent ductus arteriosus, mitral regurgitation, tricuspid regurgitation, aortic regurgitation, and pulmonary sinus dilatation. He developed severe persistent pulmonary hypertension and worsening acute hypercapnic hypoxemic respiratory failure, and subsequently expired on day of life (DOL) 10 after compassionate extubation. Cytogenomic whole-genome SNP microarray analysis revealed a deletion within the FBN1 gene spanning exons 7–30, which overlapped with the exon deletion hotspot region associated with neonatal Marfan syndrome. Infant B is a term male prenatally diagnosed with isolated D-TGA. He required balloon atrial septostomy on DOL 0 and subsequent atrial switch operation, atrial septal defect repair, and patent ductus arteriosus ligation on DOL 5. Trio-WES revealed compound heterozygous c.518C>T and c.8230T>G variants in the FBN2 gene. Zygosity analysis confirmed each of the variants was inherited from one of the parents who were healthy heterozygous carriers. Since his cardiac repair at birth, he has been growing and developing well without any further hospitalization. Our study highlights novel FBN1/FBN2 variants and signifies the phenotype–genotype association in two infants affected with complex congenital heart defects with and without dysmorphic features. These findings speak to the importance of next-generation high-throughput genomics for novel variant detection and the phenotypic variability associated with FBN1/FBN2 variants, particularly in the neonatal period, which may significantly impact clinical care and family counseling. Full article

Multi-system inflammatory syndrome in children (MIS-C) in the setting of COVID-19 can be associated with severe cardiopulmonary dysfunction. This clinical deterioration may sometimes necessitate veno-arterial extracorporeal membrane oxygenation (VA-ECMO) support. We describe an algorithmic approach including the role of balloon atrial septostomy in this cohort. This is the first reported series of percutaneous VA-ECMO in pediatric patients with MIS-C for better outcomes. The lessons from this approach can be replicated in other pediatric clinical conditions and adds to the armament of multiple pediatric specialties. Full article

Background: Transposition of the great arteries (TGA) is a common critical neonatal congenital heart defect. After birth, physiological shunts close rapidly, necessitating early treatment with prostaglandin infusion and balloon-atrial septostomy. Timing of delivery is challenging, balancing the risks and advantages of early-term delivery and specialized care. The aim of this study is to assess the safety of a full-term delivery policy in fetuses diagnosed with TGA. Methods: A retrospective chart review was conducted of 17 women with a prenatal diagnosis of fetal TGA at Virgen del Rocío University Hospital between 2015 and 2021. Primary outcomes included: incidence of preterm, early-term, full-term, and late-term delivery, and rate of cesarean section. Secondary outcomes included: Saturday to Sunday admission and birth, and delivery between 0:00 a.m. and 8:00 a.m. Results: Full-term birth was achieved in 94.1%, reaching a low cesarean delivery rate (17.6%). A total of 82.4% of infants were born on weekdays, and only in three of the cases (17.6%) did delivery occur between 0 a.m. and 8 a.m. The median birth weight was 3300 g. Intravenous prostaglandins were administered in all cases, and 94.1% required balloon-atrial septostomy. Conclusions: In our study favoring full-term delivery, we reduce early-term deliveries and the cesarean section rate in prenatally diagnosed TGA. Full article

(1) Background: Transposition of the great arteries (TGA) is the most common congenital heart disease, accounting for 5–7% of all cardiac anomalies, with a prevalence of 0.2–0.3 per 1000 live births. (2) Aim: Our main objectives were to evaluate the clinical safety of balloon atrial septostomy in neonates and the possible complications. Furthermore, we tried to establish whether the procedure should be performed in all TGA patients with small atrial septal defects, regardless of oxygen saturation, within a center where corrective surgery cannot be performed on an emergency basis due to the lack of a permanent cardiac surgery team for arterial switch surgery. (2) Methods: We conducted an observational, retrospective, single tertiary-care center study between January 2008 and April 2022, which included 92 neonates with TGA transferred to our institution for specialized treatment. (3) Results: The median age at the time of the Rashkind procedure was four days. The rate of immediate complications after balloon atrial septostomy (BAS) was high (34.3%), but most were transient (metabolic acidosis and arterial hypotension—21.8%). Twenty patients with TGA managed in our hospital underwent definitive and corrective surgical intervention (arterial switch operation) at a median age of 13 days. Most patients (82.6%) were term neonates, but 16 were born preterm. (4) Conclusions: Urgent balloon atrial septostomy is often the only solution to restore adequate systemic perfusion. Bedside balloon atrial septostomy is a safe, effective, and initial palliative intervention in neonates with TGA, which can be performed in the neonatal unit. Full article

Introduction: Paediatric pulmonary hypertension (PH) represents a heterogeneous illness that is responsible for high morbidity and mortality if left without treatment. Idiopathic pulmonary arterial hypertension (IPAH) is a subtype of PAH rarely seen in paediatrics. Limited long-term data are available. Methods: Over a period of 20 years, 10 paediatric patients were enrolled at two tertiary centres. Their clinical, echocardiographic, and right heart catheterisation (RHC) features and outcome were evaluated. Results: The mean age at first diagnosis was 5.7 ± 5.7 years. The age at the last follow-up was 12.4 ± 6.1 years. The average follow-up was 6.6 ± 0.8 years. There was a female prevalence of 60% (p < 0.05) in this case series. Regarding the NYHA functional class, 80% of IPAH subjects were in class III or IV. The mean saturation was 91 ± 5%. In this regard, 70% of the patients were on a combination of three drugs, with sildenafil (90%) included. On echocardiography, longitudinal right ventricular contractility (TAPSE) was slightly reduced (13.4 ± 2.6 mm), whilst RVSP was severely elevated (101 ± 19 mmHg). The RHC data showed that mPAP was 61.8 ± 23.1 mmHg (p = 0.0017 with RVSP on echocardiography), mRAP was 10.7 ± 3.8 mmHg, CI was 2.6 ± 1 L·min⁻¹·m⁻², PVRi was 16.8 ± 12.6 WU·m², and SVO₂ was 63.6 ± 14.8%. Regarding the outcome, two male IPAH patients (20%) died, and 50% underwent lung transplant or were on transplant assessment or already on the waiting list for lung transplantation. One patient underwent a ductus arteriosus stenting (reverse Potts shunt) and another underwent atrial septostomy and stenting. Conclusions: Notwithstanding the progress in medical therapy, IPAH continues to represent a serious challenge, particularly in the paediatric population, with the need for lung transplantation and significant mortality. Full article

Mitral atresia with normal aortic root is a rare complex congenital heart defect (CHD) and constitute less than 1% of all CHDs. In this anomaly, the mitral valve is atretic, a patent foramen ovale provides egress of the left atrial blood, either a single ventricle or two ventricles with left ventricular hypoplasia are present, and the aortic valve/root are normal by definition. Clinical, roentgenographic and electrocardiographic features are non-distinctive, but echo-Doppler studies are useful in defining the anatomic and pathophysiologic components of this anomaly with rare need for other imaging studies. Treatment consists of addressing the pathophysiology resulting from defect and associated cardiac anomalies at the time of initial presentation, usually in the early infancy. These children eventually require staged total cavo-pulmonary connection (Fontan) in three stages. Discussion of each of these stages were presented. Complications are observed in-between the stages of Fontan surgery and following completion of Fontan procedure. Attempts to monitor for early detection of these complications and promptly addressing the complications are recommended. Full article

Cardiovascular catheterization has been applied in infant treatment for several decades. To date, considerable research attention has been paid to cardiovascular catheterization in small neonates. However, peripheral vascular routes of catheterization are possible obstacles for interventionists. Umbilical vein catheterization has been reported as a route for neonates, although few attempts have been made to investigate this approach. This study aimed to retrospectively review cardiovascular intervention using the umbilical vein approach as applied to infants admitted to a tertiary center from 2017 to 2020. Details including the perinatal variables, indication diagnoses, and procedure devices were collected. The enrollment included a total of 16 cases representing 17 intervention events, with infants born at a gestation age of 22–39 weeks and body weight ranging from 478 to 3685 g at the time of the procedure. The postnatal age ranged from 1 to 27 days. The catheter sizes ranged from 4 to 11 Fr. Indications included being admitted for patent ductus arteriosus occlusion (n = 15), balloon pulmonary valvuloplasty (n = 3), balloon atrial septostomy (BAS) (n = 3), pulmonary valve (PV) perforation (n = 1), and two interventions for catheter placement for continuous venovenous hemofiltration. The success rate for cardiovascular catheterization was 88.2% (15/17). There were two patients for which cannulation failed due to ductus venosus closure: one intraabdominal hemorrhage complication during continuous venovenous hemofiltration (CVVH), and one cardiac catheterization failure of PV perforation due to failure to insert the guiding catheter into the right ventricular outflow tract. Based on these findings, we conclude that cardiac catheterization and the placement of a large-sized catheter through an umbilical vein in a small infant represents a safe and time-saving method when catheterization is required. Full article

Transposition of the great arteries (TGA) is one of the most common cyanotic congenital heart diseases requiring neonatal surgical intervention. Parallel circulations that result in impaired cerebral oxygen delivery already in utero may lead to brain damage and long-term neurodevelopmental delay. Balloon atrial septostomy (BAS) is often employed to mix deoxygenated and oxygenated blood at the atrial level. However, BAS causes a sudden increase in arterial blood oxygenation and oxidative stress. We studied changes in oxygen saturation as well as metabolic profiles of plasma samples from nine newborn infants suffering from TGA before and until 48 h after undergoing BAS. The plasma metabolome clearly changed over time and alterations of four metabolic pathways, including the pentose phosphate pathway, were linked to changes in the cerebral tissue oxygen extraction. In contrast, no changes in levels of lipid peroxidation biomarkers over time were observed. These observations suggest that metabolic adaptations buffer the free radical burst triggered by re-oxygenation, thereby avoiding structural damage at the macromolecular level. This study enhances our understanding of the complex response of infants with TGA to changes in oxygenation induced by BAS. Full article

Fetoscopic laser photocoagulation (FLP) of placental anastomoses is the preferred treatment for twin-to-twin transfusion syndrome (TTTS). Iatrogenic septostomy (IOS) during FLP is associated with increased risk of neonatal morbidity and mortality. We sought to identify risk factors for IOS and quantify the resultant outcomes. This is a secondary analysis of prospectively collected cases of TTTS in monochorionic diamniotic twins following FLP at a single center. Pre-operative ultrasound characteristics and operative technique (i.e., cannula size, total energy used) were compared between cases with vs. without IOS. Pregnancy and neonatal outcomes were also compared. Of 475 patients that had FLP, 33 (7%) were complicated by IOS. There was no association between operative technique and IOS. IOS was more common with later diagnosis, but less likely when selective fetal growth restriction (sFGR) was present. Survival was similar between groups (76% vs. 76% dual survivors, p = 0.95); however, IOS was associated with earlier delivery (29.7 vs. 32.0 wks, p < 0.01) and greater composite neonatal morbidity (25% vs. 8% in both twins, p = 0.02). Risks of IOS at greater gestational ages without sFGR may be related to a larger collapsed intervening membrane area and the resulting increased risk of puncture on entry. Full article

Despite significant advancements in pharmacological treatment, interventional and surgical options are still viable treatments for patients with pulmonary arterial hypertension (PAH), particularly idiopathic PAH. Herein, we review the interventional and surgical treatments for PAH. Atrial septostomy and the Potts shunt can be useful bridging tools for lung transplantation (Ltx), which remains the final surgical treatment among patients who are refractory to any other kind of therapy. Veno-arterial extracorporeal membrane oxygenation (V-A ECMO) remains the ultimate bridging therapy for patients with severe PAH. More importantly, VA-ECMO plays a crucial role during Ltx and provides necessary left ventricular conditioning during the initial postoperative period. Pulmonary denervation may potentially be a new way to ensure better transplant-free survival among patients with the aforementioned disease. However, high-quality randomized controlled trials are needed. As established, obtaining the Eisenmenger physiology among patients with severe pulmonary hypertension by creating artificial defects is associated with improved survival. However, right-to-left shunting may be harmful after Ltx. Closure of the artificially created defects may carry some risk associated with cardiac surgery, especially among patients with Potts shunts. In conclusion, PAH requires an interdisciplinary approach using pharmacological, interventional, and surgical modalities. Full article

In this review management of the most common cyanotic congenital heart defects (CHDs) was discussed; the management of acyanotic CHD was reviewed in Part I of this series. While the need for intervention in acyanotic CHD is by and large determined by the severity of the lesion, most cyanotic CHDs require intervention, mostly by surgery. Different types of tetralogy of Fallot require different types of total surgical corrective procedures, and some may require initial palliation, mainly by modified Blalock–Taussig shunts. Babies with transposition of the great arteries with an intact ventricular septum as well as those with ventricular septal defects (VSD) need an arterial switch (Jatene) procedure while those with both VSD and pulmonary stenosis should be addressed by Rastelli procedure. These procedures may need to be preceded by prostaglandin infusion and/or balloon atrial septostomy in some babies. Infants with tricuspid atresia require initial palliation either with a modified Blalock–Taussig shunt or banding of the pulmonary artery and subsequent staged Fontan (bidirectional Glenn and fenestrated Fontan with extra-cardiac conduit). Neonates with total anomalous pulmonary venous connection are managed by anastomosis of the common pulmonary vein with the left atrium either electively in non-obstructed types or as an emergency procedure in the obstructed types. Babies with truncus arteriosus are treated by surgical closure of VSD along with right ventricle to pulmonary artery conduit. The other defects, namely, hypoplastic left heart syndrome, pulmonary atresia with intact ventricular septum, double-outlet right ventricle, double-inlet left ventricle and univentricular hearts largely require multistage surgical correction. The currently existing medical, trans-catheter and surgical techniques to manage cyanotic CHD are safe and effective and can be performed at a relatively low risk. Full article