Septal Defect Research Articles

Neurohormonal activation pattern in patients with atrial septal defect

Atrial septal defects (ASD) divert flow from systemic to pulmonary circulation, and some degree of plasma volume expansion and neurohormonal activation are necessary to maintain the effective circulatory volume. The aim of the present study was to understand the patterns of neurohormonal activation in ASD patients. 16 ASD patients and 10 controls were enrolled. Fasting blood samples were collected prior to procedure and 48 h after defect closure. At baseline, renin (185.0(79.0—437.0 vs. 79.4(60.8—110.0), p = 0.04), aldosterone (20.2 ± 7.6 vs. 11.7 ± 2.8, p < 0.001), copeptin (43.6 ± 27.5 vs. 16.4 ± 8.7, p = 0.002) and both natriuretic peptides were higher in ASD patients, while noradrenaline (113.0 ± 61.3 vs. 178.0 ± 49.4, p = 0.009) and endothelin-1 (2.93 ± 2.00 vs. 5.06 ± 1.25, p = 0.006) were higher in controls. After ASD closure, only NT-proBNP reduced significantly (p = 0.02). There were negative correlations between defect area with noradrenaline (r=-0.73, p = 0.002) and with endothelin-1 (r=-0.59, p = 0.02). Present findings suggest that in patients with an ASD, there is an increase in neurohormones that are related to regulation of plasma volume (aldosterone and arginine vasopressin) with simultaneous reductions in neurohormones related to vasoconstriction in systemic and pulmonary beds (noradrenaline and endothelin-1).

Safety and Efficacy of Modified Electroconvulsive Therapy in Managing Catatonic Symptoms in a Case of Suspected Marfan Syndrome With a Large Atrial Septal Defect.

Safety and Efficacy of Modified Electroconvulsive Therapy in Managing Catatonic Symptoms in a Case of Suspected Marfan Syndrome With a Large Atrial Septal Defect.

Transcatheter Pulmonary Flow Restrictors: Current Trends and Future Perspectives.

Transcatheter Pulmonary Flow Restrictors (TPFRs) represent a significant advancement in managing pulmonary blood flow for congenital heart disease patients. However, there is a paucity of comprehensive studies addressing the diversity of these devices and identifying their critical features. This review aims to consolidate the existing knowledge on TPFRs, pinpoint crucial design and development aspects, identify gaps in current practices, and spotlight directions for future research and advancement. An exhaustive search was conducted across multiple databases, using specific search terms related to transcatheter and percutaneous pulmonary artery banding. Between 2005 and 2024, 82 patients were reported to have received TPFR implants, including fenestrated atrial septal defect occluders, diabolo-shaped stents, and MVP™ Micro Vascular Plug with polytetrafluoroethylene (PTFE) membranes partially removed. Microvascular plugs were the most commonly used and the most successful devices. However, the primary complications and challenges associated with MVPs included pulmonary overflow, unprotected flow to the right upper lobe, difficulty in creating an appropriately sized fenestration, the need for device replacement due to incorrect sizing, distal migration into the right pulmonary artery, left pulmonary artery stenosis, partial device collapse, thrombosis, jailing of the right upper lobe, potential injury to the pulmonary arterial wall, as well as device fracture and infection. TPFRs can be categorized based on the duration they are designed to remain within the pulmonary artery. Strategies should be devised to enable the device's easy removal without harming the pulmonary arterial wall while also preventing embolization. The ideal device should minimize migration, embolization, thrombosis, inflammation, and endothelialization risks. It should also prevent peri-device flow and adapt to the growth of the pulmonary artery, ensuring long-term efficacy and safety. The long-term outcomes and the potential for employing biodegradable and smart biomaterials remain areas for further investigation. Successful development of these devices requires a collaborative effort among biomaterial engineers, device developers, and interventional cardiologists.

PKP2 Gene Mutation Causing Left Ventricular Non-compaction with Atrial Septal Defect in a Neonate: A Case Report

Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiomyopathy that predisposes to ventricular arrhythmias (VA), leading to sudden cardiac death in young patients. Familial arrhythmogenic right ventricular dysplasia-9 (ARVD9) is caused by heterozygous mutations in the PKP2 gene (602861), which encodes plakophilin-2, an essential armadillo repeats protein of the cardiac desmosome, on chromosome 12p11. We are reporting a 15-day-old neonate (after obtaining proper written consent from the parents) with a history of two sibling deaths in early childhood who presented with VA with left ventricular non-compaction with atrial septal defect later diagnosed as AVC on the genetic study, the first of its kind, who survived on conservative management and did well on follow-up.

Case presentation: successful occlusion of congenital left ventricle to coronary sinus fistula.

Congenital left ventricle to coronary sinus fistulas are exceptionally rare, and only a few case reports of this condition exist. These fistulas may isolated or occur in conjunction with other CHDs. In this case report, we describe an 18-month-old boy who presented to our centre with a diagnosis of mitral valve insufficiency and a coronary sinus-type atrial septal defect. Upon echocardiographic evaluation, he was found to have a rare congenital left ventricle to coronary sinus fistula. Echocardiographic examination established the diagnosis. Contrary to initial suspicions, mitral regurgitation and atrial septal defect were not present. Instead, the echocardiogram revealed a left ventricular to coronary sinus fistula accompanied by dilation of the coronary sinus. These findings were corroborated by CT angiography. The fistula was then successfully occluded using a transcatheter method. Follow-up assessments at one-year post-procedure showed no complications and no evidence of significant shunting on echocardiography.

Eisenmenger Syndrome: Pathophysiology, Clinical Manifestations, and Contemporary Management Approaches in Advanced Cardiopulmonary Disease

Eisenmenger syndrome, a complex and severe form of congenital heart disease, results from prolonged left-to-right shunting due to underlying cardiac defects such as ventricular septal defects, atrial septal defects, or patent ductus arteriosus, ultimately leading to irreversible pulmonary arterial hypertension and a reversal of the initial shunt. This syndrome represents the most severe spectrum of pulmonary vascular disease associated with congenital heart defects and is characterized by hypoxemia, erythrocytosis, and systemic cyanosis. Despite advances in early diagnosis and intervention in congenital heart disease, Eisenmenger syndrome remains a significant concern due to the irreversible nature of pulmonary vascular changes and associated multisystem complications. This article provides a comprehensive review of the pathophysiology, clinical manifestations, and the role of pharmacologic and non-pharmacologic therapies, including advanced palliative care, to improve patient quality of life. Emerging therapies such as endothelin receptor antagonists, phosphodiesterase-5 inhibitors, and prostacyclin analogs show promise in symptom management, though surgical interventions, such as heart-lung transplantation, remain reserved for selected cases. Given the high mortality associated with Eisenmenger syndrome, a multidisciplinary approach is critical in managing complications, improving patient outcomes, and supporting functional status.

Clinical features and genetic analysis of 471 cases of fetal congenital heart disease

BackgroundCongenital heart disease (CHD) is a heterogeneous collection of structural abnormalities of the heart or great vessels that are present at birth. These birth defects are one of the leading causes of infant mortality and morbidity worldwide. The etiology and pathogenesis of CHD are unclear and largely considered to be multifactorial in nature. Since the chromosomal profile of CHD has not been analyzed in a large sample size, we aimed to summarize the clinical features, cytogenetics findings, and pregnancy outcomes of CHD to provide a clinical reference for prenatal diagnosis.MethodsAmong 21,152 pregnant women, 471 (2.23%) showed fetal CHD on cordocentesis or amniocentesis. The number of cases showing simple CHD, simple CHD with concomitant extracardiac structural abnormalities, complex CHD, and complex CHD with concomitant extracardiac structural abnormalities was 128, 124, 89, and 130, respectively. For prenatal genetic diagnosis, karyotyping was performed with single-nucleotide polymorphism array(SNP-array)-based chromosomal microarrays, fluorescence in situ hybridization (FISH), copy number variation sequencing (CNV-seq), and BACs-on-Beads™ (BoBs) analyses. The results of ultrasonography examinations, genetic analyses, and pregnancy outcomes were recorded in detail.ResultsVentricular septal defects (VSDs) were observed in 245 (52.02%) cases of fetal CHD. Among the 471 cases of CHD, 258 (54.78%) showed other ultrasound abnormalities. The most common ultrasound abnormalities were abnormalities of the central nervous system. The 471 cases included 93 (19.75%) cases showing chromosomal abnormalities, and the incidence of these abnormalities increased with advanced maternal age or the presence of other ultrasound abnormalities. In eight cases, karyotype analysis showed normal results while SNP-array or CNV-seq results were abnormal. Among the 453 cases that were followed up, 166 (36.64%) involved pregnancy termination, 273 (60.26%) involved live births, 7 (1.55%) involved fetal death in utero, and 7 (1.55%) involved neonatal death after birth.ConclusionsFetuses with CHD showed higher rates of chromosomal abnormalities. In cases diagnosed with fetal CHD during fetal ultrasonic examination, the mothers should undergo a careful and comprehensive fetal ultrasound scan as well as prenatal genetic testing, including karyotype analysis and SNP-array or CNV-sequencing. The prognosis for simple fetal CHD is good, while the prognosis for complex fetal CHD and extracardiac anomalies is poor.

Closure of Post-infarct Basal Ventricular Septal Defect by Using an Atrial Septal Defect Closure Device: A Case Report

Ventricular Septal Defect, also known as VSD is a rare and life-threatening complication associated with MI. Therefore, it should be immediately diagnosed and treated. Transcatheter closure of the ventricular septal defect is a new alternative treatment approach compared to surgery. In this case, we presented a patient with post-infarct basal ventricular septal defect whose ventricular septal defect was closed using an atrial septal defect closure device. The ability to successfully close such a large defect via catheter is promising for the treatment of patients with VSD.

Fenestrated closure of an atrial septal defect for left ventricular diastolic dysfunction in an early infant with hypertrophic cardiomyopathy.

Left ventricular diastolic dysfunction is associated with poor prognosis in patients with hypertrophic cardiomyopathy and CHD. We report the case of an infant concomitant with hypertrophic cardiomyopathy, an atrial septal defect, and left ventricular diastolic dysfunction, who was successfully managed with fenestrated closure of the atrial septal defect.

Association between sedentary time, physical activity, biochemical markers in the blood (heart and muscles) and heart failure in adults with congenital heart disease: a study protocol of a cross-sectional cohort study in Sweden (the ACHD trial protocol)

IntroductionAdults with congenital heart disease (ACHD) are a heterogeneous group with a large variation in the severity of lesions and symptoms. This population has rapidly grown in recent years due...

Sinus node dysfunction in children: different aetiologies, similar clinical course in two-centre experience.

This study aims to evaluate the clinical characteristics and outcomes of children diagnosed with sinus node dysfunction. This was a retrospective review of patients diagnosed with sinus node dysfunction in two tertiary paediatric cardiology centres in Turkey from January 2011 to June 2022. In all, 77 patients (50, 64.9% males) were included, with a mean age of 8.2 ± 6.3 years and a mean weight of 28.2 ± 18.8 kg. While age-incompatible bradycardia and pauses were the most common rhythm disturbances, syncope, presyncope, and dizziness (n:33, 43%) were the most frequent initial symptoms. Structural heart disease was present in 58 (75.3%) of the 77 patients, 47 (61%) of whom were congenital. The most commonly associated CHDs were transposition of the great arteries (n:8), atrial septal defect (n:7), and atrioventricular septal defect (n:5). Seven of them also had left atrial isomerism. The remaining 19 patients were isolated. Four patients had SCN5A mutation (two of them were siblings) and two of them had Emery-Dreifuss muscular dystrophy. Although sinus node dysfunction is rare in children, it has been diagnosed with increasing frequency with structural heart disease, especially in patients who have undergone corrective cardiac surgery related to atrial tissue. Since sinus node dysfunction can occur at any time postoperatively, these patients should be kept under constant control. If symptomatic sinus node dysfunction is confirmed, permanent pacing is an effective therapeutic modality.

Thoracoscopic closure of atrial septal defect in perfused beating hearts.

This study aims to characterize the mid and long-term clinical outcomes of 856 atrial septal defect cases that underwent closure using MTCST without the assistance of a robotic system. From June 2009 to September 2023, a total of 856 cases at our center underwent selective repair of a secundum-type atrial septal defect using MTCST without Da Vinci robotic assistance. According to whether the operation was performed during an arrested heart or not, patients were divided into arrested heart group (n = 110) and beating heart group (n = 746). Cardiopulmonary bypass was established peripherally. Three-port incisions in the right chest were conducted first, followed by a pericardiotomy, superior and inferior vena cava snaring, atriotomy, and the closure of atrial septal defect under a thoracoscope. Patients were followed up from 3 months to 12 years postoperatively. The exclusively MTCST for atrial septal defect closure was successfully performed without any in-hospital mortality in both groups. None of the procedures required an alternative technique for the closure. There were significant learning curves for cardiopulmonary bypass time and operation time. No residual shunt was observed in all patients during the follow-up transthoracic echocardiography at 5-day and 3-month timepoints postoperatively. This study demonstrates that an exclusively MTCST for atrial septal defect repair is safe, simple, and minimally invasive. Exclusively MTCST is a new desirable alternative beside robotic-assisted atrial septal defect repair.

Anesthetic Consideration for Modified Electroconvulsive Therapy in an Adolescent With Uncorrected Atrial Septal Defect: A Case Report

Anesthetic Consideration for Modified Electroconvulsive Therapy in an Adolescent With Uncorrected Atrial Septal Defect: A Case Report

Atrial septal defect (ASD), trans-catheter closure – case report

Atrial septal defect (ASD) is one of the most common types of congenital heart defects, occurring in about 25% of children. An atrial septal defect occurs when there is a failure to close the communication between the right and left atria. It encompasses defects involving both the true septal membrane and other defects that allow for communication between both atria. There are five types of atrial septal defects ranging from most frequent to least: patent foramen ovale, ostium secundum defect, ostium primum defect, sinus venosus defect, and coronary sinus defect. Small atrial septal defects usually spontaneously close in childhood. Large defects that do not close spontaneously may require percutaneous or surgical intervention to prevent further complications such as stroke, dysrhythmias, and pulmonary hypertension. This activity describes the evaluation, diagnosis, and management of atrial septal defect and highlights the role of team-based interprofessional care for affected patients. Atrial septal defects are frequently asymptomatic. The characteristic murmur is a soft, systolic ejection murmur over the pulmonic area (second intercostal space) combined with a wide, fixed splitting of S2. Many ASDs go undiagnosed until adulthood; therefore, treatment, especially of large defects, is often delayed. Untreated large defects can cause exercise intolerance, cardiac dysrhythmias, palpitations, increased incidence of pneumonia, pulmonary hypertension and increased mortality.

Incidence and risk factors of congenital heart disease in Qingdao

Objective: To analyze the incidence and risk factors of congenital heart disease (CHD) in Qingdao. Methods: A prospective study was adapted, and study participants were pregnant women who underwent prenatal screening in Qingdao from August 2018 to June 2020 and their offspring (the whole population coverage). CHD in neonates was screened by using the pulse oximetry saturation and heart auscultation, and the final diagnosis was determined by the result of echocardiography. Multivariable logistic regression was performed to analyze the risk factors of CHD. Results: The study included 115 238 live births, among which 709 were diagnosed with CHD, with an incidence of 6.15/1 000. Ventricular septal defect, atrial septal defect, as well as ventricular septal defect and atrial septal defect were the main CHD subtypes, with incidences of 2.97/1 000 (342/115 238), 1.01/1 000 (116/115 238), and 0.39/1 000 (45/115 238), respectively, comprising 48.2% (342/709), 16.4% (116/709), and 6.3% (45/709) of the CHD cases. The results of multivariable logistic regression showed that the offspring of women with a graduate degree (compared to junior high school or below) (OR=1.66, 95%CI: 1.15-2.40), pregnancy history of CHD (OR=9.50, 95%CI: 5.37-16.81), pregestational diabetes mellitus (OR=3.40, 95%CI: 1.58-7.32) had a higher risk of having CHD, whereas the offspring of multiparous women was associated with a lower risk of CHD (OR=0.84, 95%CI: 0.71-0.99). In addition, compared with male newborns, female newborns have a higher risk of having CHD (OR=1.18, 95%CI: 1.01-1.39). Conclusions: The incidence of CHD in Qingdao is 6.15/1 000, with ventricular septal defect, atrial septal defect, as well as ventricular septal defect and atrial septal defect being the main subtypes. Maternal education, parity, pregnancy history of CHD, pregestational diabetes mellitus, and offspring gender are associated with CHD occurrence.

Abstract 4112716: The Trend In Racial Differences In Mortality Attributed To Congenital Heart Diseases In Infants In The United States From 2005 To 2019

Background: Deaths from congenital heart disease (CHD) in children have been decreasing in the United States. We examined the differences in mortality trends between Non-Hispanic Black (NHB) and Non-Hispanic White (NHW) infants. Methods: We retrospectively analyzed publicly available data from the Centers for Disease Control and Prevention’s Wide-ranging Online Data for Epidemiologic Research (CDC WONDER). The data was obtained from the linked birth/infant deaths from 2005 to 2019. We evaluated all infant deaths up to 1 year of age with the cause of death listed as CHD (International classification of diseases, 10 th revision (ICD-10) codes Q20-Q26 (except atrial septal defect, Q21.1 and patent ductus arteriosus, Q25. CHD infant mortality rate (IMR) was calculated per 100,000 live births. Race was ascertained based on death certificate reporting. Joinpoint regression was used to examine CHD-IMR by year, including stratification by NHB vs NHW, and neonatal vs postneonatal. The difference between NHB and NHW CHD-IMR was ascertained via the Mann-Whitney U test. P&lt;0.05 was considered statistically significant. Results: Out of 60,243,988 live births, there were 19,004 CHD-related infant deaths. The characteristics of the study population are displayed in Table 1. The overall CHD-IMR declined from 36.1 to 27.0 per 100,000 live births (25.2%) with an average annual percentage change (AAPC) of -2.1 [95% CI -2.6, -1.572] (Figure 1). The CHD-IMR was significantly higher in NHB than in NHW (40 vs 29.3; P&lt;0.0001) and this difference remained when the mortality rate was stratified by neonatal and post-neonatal periods. The CHD-IMR decreased significantly in NHW [AAPC: -2%; 95% CI: -2.5, -1.5%], but not in NHB [AAPC of -1.4%, 95% CI, -3.0, 0.3%]. The NHB-to-NHW CHD-IMR ratio, a measure of CHD-IMR disparity averaged 1.4 over the study period [AAPC: 0.8%; 95% CI: -0.2, 1.8%] (Figure 2). Conclusions: The CHD-IMR declined significantly for NHW, but not in NHB in the US from 2005 to 2019. The CHD-IMR was higher in NHB than in NHW. There was no significant change in the NHB-to-NHW CHD-IMR ratio, signifying no change in the disparity that exists between NHB and NHW IMR. These findings may have implications for patient care and public health policymaking. They lay the groundwork for additional studies to determine and understand the drivers behind these findings such as in prenatal diagnosis.

Crescent-Shaped Atrial Septal Defect: A New Clinical Entity of an Acquired Defect for Transcatheter Closure

Crescent-Shaped Atrial Septal Defect: A New Clinical Entity of an Acquired Defect for Transcatheter Closure

Robot-Assisted Atrial Septal Defect Closure Via the Left Atrium: Dual Case Reports.

Robot-Assisted Atrial Septal Defect Closure Via the Left Atrium: Dual Case Reports.

Abstract 4120469: Racial and ethnic disparities in catheter based interventions vs. open heart surgery in congenital heart disease

Introduction: Transcatheter cardiac interventions have emerged as a viable alternative to open heart surgery for specific congenital heart disease lesions. There is literature to support racial and ethnic disparities in medicine, indicating that patients from racially and ethnically marginalized populations are less likely to receive advanced less invasive procedures. This study seeks to delve into the existence of such inequities between transcatheter and surgical interventions, shedding light on potential inequalities in access and outcomes. Methods: We analyzed California and Florida's State Inpatient and Ambulatory Surgery Databases from 2005 to 2017 to study patients under 18 admitted with diagnosis of atrial septal defect, pulmonary stenosis, aortic stenosis, and ventricular septal defects. Multivariable logistic regression, adjusted for patient characteristics, assessed race and ethnicity's influence on procedure type and in-hospital mortality. We also used log-transformed linear regression to examine associations with length of stay, hospitalization cost, and cost per day. Results: We identified 13,771 records who had open surgeries, and 2,045 records who had CBI. Compared to non-Hispanic White patients, Black patients were significantly more likely to undergo open surgical procedures (adjusted Odds Ratio [aOR] 1.49, p &lt; .001). Additionally, Black, Hispanic, and other race patients had higher risks of in-hospital death (aOR 1.92, p = 0.016 for Black; aOR 1.93, p &lt; 0.01 for Hispanic; aOR 2.37, p &lt; 0.01 for other races). Black and Hispanic patients also experienced longer lengths of stay (Adjusted Means Ratio [aMR] 1.34, p &lt; 0.01 for Black; aMR 1.16, p &lt; 0.01 for Hispanic), and higher costs (aMR 1.12, p = .01 for Black; aMR 1.11, p = .01 for Hispanic), but Black patients had a lower cost per day (aMR 0.96, p = .02). Conclusion: Racial and ethnic gaps persist in pediatric cardiac care, with Black patients facing reduced access to less invasive procedures, higher mortality rates, longer hospital stays, and increased costs compared to non-Hispanic whites. However, the higher costs are likely attributed to longer hospital stays rather than expensive interventions. It is imperative to tackle these disparities to prioritize patient-centered care and streamline resource allocation in healthcare.

Abstract 4138310: Successful Endovascular Closure of Ascending Aortic Pseudoaneurysm Using Atrial Septal Defect Occluder

Introduction: Ascending aortic pseudoaneurysms are mostly related to either surgery or non-surgical trauma. Any pseudoaneurysm arising from graft anastomoses, regardless of size or location, must be repaired due to the potential for catastrophic rupture. Traditional surgical intervention has a high mortality rate, but percutaneous treatment has emerged as an alternative. We present such a case of pseudoaneurysm treated by percutaneous intervention using a 6-mm Amplatzer device. Case: A 77-year-old female with a history of type A aortic dissection s/p emergent repair with a 32 mm tube graft one year ago presented with chest pain radiating to her back. Initial vital signs showed a BP of 185/105, SaO2 98% on RA, 98.3 F, HR 98 bpm, and RR 24/min. A chest CT scan suggested a pseudoaneurysm at the proximal anastomotic site of the aortic graft (Figs. 1A and B). Serial troponin and EKGs were unremarkable for acute ischemia. Multiple quaternary centers declined intervention due to the high risk of redo sternotomy for open repair and patient frailty. After multidisciplinary discussions, it was felt that percutaneous closure with an Amplatzer device was possible without coronary obstruction. In the catheterization lab, a TEE probe was placed to visualize the pseudoaneurysm of the ascending aorta (Fig. 1C). Angiography showed the aneurysm coming off the posterior aorta just above the noncoronary cusp, with the neck measuring ~6 mm (Fig. 1D). The aneurysm was successfully engaged using an 8-French sheath and an 8-French AL1. Based on measurements from the TEE and the angiogram, a 6 mm ASO device was used. After device deployment and release, aortograms showed that the pseudoaneurysm was excluded (Fig. 1H). Assessment with TEE and CTA showed no residual flow in the pseudoaneurysm (Fig. 1 E–G). Conclusion: Using an atrial septal occluder, endovascular intervention may be a safe and effective alternative to surgery for treating the ascending aortic pseudoaneurysm, especially in patients with a high prohibitive surgical risk. Longitudinal follow-ups are needed to comment on long-term mortality benefits for these individuals.