Outcomes Following Surgical Repair of Sinus Venosus Atrial Septal Defects: A Systematic Review and Meta-Analysis.

BACKGROUND: Sinus venosus atrial septal defect (SVASD) is a rare congenital cardiac anomaly comprising 5% to 10% of all atrial septal defects. Although surgical closure is the standard treatment for SVASD, data on outcomes have been confined to small cohorts. Thus, we conducted a systematic review of the outcomes of SVASD repair. METHODS AND RESULTS: The primary outcome was death. Secondary outcomes encompassed atrial fibrillation, sinus node dysfunction, pacemaker insertion, cerebrovascular accident, reoperation, residual septal defect, superior vena cava obstruction, and reimplanted pulmonary vein obstruction. Pooled incidences of outcomes were calculated using a random-effects model. Forty studies involving 1320 patients who underwent SVASD repair were included. The majority were male patients (55.4%), with 88.0% presenting with associated anomalous pulmonary venous connection. The weighted mean age was 18.6±12.5 years, and the overall weighted mean follow-up period was 8.6±10.4 years. The in-hospital mortality rate was 0.24%, with a 30-day mortality rate of 0.5% reported in 780 patients. Incidences of atrial fibrillation, sinus node dysfunction, pacemaker insertion, and cerebrovascular accident over the long-term follow-up were 3.3% (2.18%-4.93%), 6.5% (5.09%-8.2%), 2.23% (1.34%-3.57%), and 2.03% (0.89%-2.46%) respectively. Reoperation occurred in 1.36% (0.68%-2.42%) of surgeries, residual septal defect in 1.34% (0.69%-2.42%), superior vena cava obstruction in 1.76% (1.02%-2.9%), and reimplanted pulmonary vein obstruction in 1.4% (0.7%-2.49%). CONCLUSIONS: This is the first comprehensive analysis of outcomes following surgical repair of SVASD. The findings affirm the safety and effectiveness of surgery, establishing a reference point for evaluating emerging transcatheter therapies. Safety and efficacy profiles comparable to surgical repair are essential for widespread adoption of transcatheter treatments.

Three-dimensional transesophageal echocardiography measurements of ASD sizing parameters in comparison to balloon sizing method in percutaneous ASD closure.

BACKGROUND: Balloon sizing (BS) has been used for device size selection in percutaneous atrial septal defect (ASD) closure. Due to its limitations, alternative imaging techniques like three-dimensional transesophageal echocardiography (3D-TEE) are valuable for guiding ASD device size selection during ASD closure procedures. The purpose of this study was to compare ASD sizing using measurements obtained from 3D-TEE to those utilizing the standard balloon sizing method. METHODS: We identified 53 patients with single secundum type ASD without PFO who underwent percutaneous closure at the Tehran Heart Center between 2019 and 2022. Balloon sizing was performed in all patients with the stop-flow technique, and the choice of device size was determined based on the sizing derived from BS. 3D-TEE imaging was performed before the intervention, and the ASD shape and quality of ASD rims were assessed. RESULTS: Among the 53 patients who underwent single ASD device closure, multiple 3D TEE measurements significantly correlated with balloon sizing results. This included defect area, perimeter, and diameter obtained from 3D-TEE images multi-planar reconstruction. ASD perimeter detected by 3D TEE had the best correlation with BS results. When divided by the shape of ASD, there was no significant difference between our 3D-images data and BS in round or oval-shaped ASDs. CONCLUSION: The 3D-TEE study is reliable for assessing ASD configurational characteristics in percutaneous device closure candidates. 3D-TEE has the potential to accurately determine the appropriate device size and reduce complications, costs, and procedural duration. Further research is needed to validate these findings and establish the role of 3D-TEE measurements in guiding the best treatment decisions for ASD closure.

Delayed diagnosis of Loeys-Dietz syndrome revealed through atrial septal defect with pulmonary artery dilation.

Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.

Molecular Pathways and Animal Models of Atrioventricular Septal Defect.

The development of a fully functional four-chambered heart is critically dependent on the correct formation of the structures that separate the atrial and ventricular chambers. Perturbation of this process typically results in defects that allow mixing of oxygenated and deoxygenated blood. Atrioventricular septal defects (AVSD) form a class of congenital heart malformations that are characterized by the presence of a primary atrial septal defect (pASD), a common atrioventricular valve (cAVV), and frequently also a ventricular septal defect (VSD). While AVSD were historically considered to result from failure of the endocardial atrioventricular cushions to properly develop and fuse, more recent studies have determined that inhibition of the development of other components of the atrioventricular mesenchymal complex can lead to AVSDs as well. The role of the dorsal mesenchymal protrusion (DMP) in AVSD pathogenesis has been well-documented in studies using animal models for AVSDs, and in addition, preliminary data suggest that the mesenchymal cap situated on the leading edge of the primary atrial septum may be involved in certain situations as well. In this chapter, we review what is currently known about the molecular mechanisms and animal models that are associated with the pathogenesis of AVSD.

Human Genetics of Atrial Septal Defect.

Although atrial septal defects (ASD) can be subdivided based on their anatomical location, an essential aspect of human genetics and genetic counseling is distinguishing between isolated and familiar cases without extracardiac features and syndromic cases with the co-occurrence of extracardiac abnormalities, such as developmental delay. Isolated or familial cases tend to show genetic alterations in genes related to important cardiac transcription factors and genes encoding for sarcomeric proteins. By contrast, the spectrum of genes with genetic alterations observed in syndromic cases is diverse. Currently, it points to different pathways and gene networks relevant to the dysregulation of cardiomyogenesis and ASD pathogenesis. Therefore, this chapter reflects the current knowledge and highlights stable associations observed in human genetics studies. It gives an overview of the different types of genetic alterations in these subtypes, including common associations based on genome-wide association studies (GWAS), and it highlights the most frequently observed syndromes associated with ASD pathogenesis.

Patent Foramen Ovale and Atrial Septal Defect.

Patent foramen ovale (PFO) and atrial septal defects (ASDs) are two types of interatrial communications with unique clinical presentations and management strategies. The PFO is a normal part of fetal development that typically closes shortly after birth but may persist in as many as 25% to 30% of adults. The communication between atria may result in paradoxic embolism and embolic stroke. On the other hand, ASDs (anatomically defined as secundum, primum, sinus venosus, and coronary sinus in order of prevalence) typically result in right heart volume overload and are often associated with other congenital defects. The diagnostic methods, treatment options including surgical and percutaneous approaches, and potential complications are described. Both conditions underline the significance of precise diagnosis and appropriate management to mitigate risks and ensure optimal patient outcomes.

The association of right ventricular-pulmonary arterial coupling and pulmonary vascular resistance in adult patients with uncorrected atrial septal defect.

BACKGROUND: Atrial septal defects (ASD) are the most common type of adult congenital heart disease (ACHD) associated with a high risk developing of pulmonary arterial hypertension (PAH). ASD closure is not recommended in patients with PAH and Pulmonary Vascular Resistance (PVR) ≥ 5 Wood Unit (WU). Noninvasive methods have been proposed to measure PVR; however, their accuracy remains low. Right Ventricle (RV) - Pulmonary Artery (PA) coupling is defined as the ability of the RV to adapt to high-resistance conditions. Tricuspid Annular Plane Systolic Excursion (TAPSE)/estimated pulmonary artery systolic pressure (ePASP) calculation using echocardiography is a noninvasive technique that has been proposed as a surrogate equation to evaluate RV-PA coupling. Currently, no research has demonstrated a relationship between RV-PA coupling and PVR in patients with ASD. METHODS: The study participants were consecutive eligible patients with ASD who underwent right heart catheterization (RHC) and echocardiography at Hasan Sadikin General Hospital, Bandung. Both the procedures were performed on the same day. RV-PA Coupling, defined as TAPSE/ePASP > 0.31, was assessed using echocardiography. The PVR was calculated during RHC using the indirect Fick method. RESULTS: There were 58 patients with ASD underwent RHC and echocardiography. Among them, 18 had RV/PA Coupling and 40 had RV/PA Uncoupling. The PVR values were significantly different between the two groups (p = 0.000). Correlation test between TAPSE/ePASP with PVR showed moderate negative correlation (r= -0.502, p = 0.001). TAPSE/ePASP ≤ 0.34 is the cutoff point to predict PVR > 5 WU with sensitivity of 91.7% and specificity 63.6%. CONCLUSION: This study showed a moderate negative correlation between TAPSE/ePASP and PVR. TAPSE/ePASP ≤ 0.34 could predict PVR > 5 WU with good sensitivity.

Transcatheter Correction of Superior Venacaval Form of Sinus Venosus Defects Using Balloon-Mounted Covered STENTS.

Superior sinus venosus defects (SVD) are interatrial communications located above the confines of the oval fossa, where unroofing of the right upper pulmonary vein leads to its anomalous drainage to the superior venacava. Recent emergence of transcatheter closure of these defects using covered stents is an attractive alternative option especially in adults with additional comorbidities. This article focuses on various aspects of non-surgical closure of SVD, including patient selection, appropriate hardware options, step-by-step procedural details, evolution and modifications in the techniques over the last decade, protocols for follow-up evaluation, and potential complications associated with this intervention.

Quantitative evaluation of right ventricular myocardial function changes in patients with atrial septal defect before and after occlusion by noninvasive right ventricular pressure-strain loop.

OBJECTIVE: The noninvasive right ventricular pressure-strain loop (PSL) represents a novel method for the quantitative assessment of right ventricular myocardial function. Given that atrial septal defect (ASD) is a prevalent congenital heart anomaly associated with right ventricular volume overload, this study aimed to quantitatively assess the myocardial function of the right ventricle in ASD patients pre- and post-occlusion by noninvasive right ventricular PSL. METHODS: This study included 36 patients diagnosed with secundum ASD group and 30 healthy adults (control group). We compared conventional right ventricular echocardiographic parameters, right ventricular strain, and myocardial work in the ASD group before occlusion, two days post-occlusion, and three months post-occlusion, with those in the control group. RESULTS: Prior to and two days following occlusion, the ASD group exhibited higher right ventricular global work index (RVGWI), right ventricular global wasted work (RVGWW), and right ventricular global constructive work (RVGCW) compared to the control group (P < .05). Within the ASD group, post-occlusion, RVGWI, RVGCW, and RVGWW values were significantly reduced compared to pre-occlusion values (P < .001). Furthermore, RVGWI and RVGCW showed a significant decrease three months after occlusion compared to two days post-occlusion (P < .05). Multivariate regression analysis identified ASD diameter and pulmonary artery systolic pressure (PASP) as independent predictors of RVGWI (ß = .405, P < .001; ß = 2.307, P = .037) and RVGCW(ß = .350, P<.001; ß = 1.967, P = .023). CONCLUSIONS: The noninvasive right ventricular PSL effectively demonstrates the alterations in right ventricular myocardial function in ASD patients, pre- and post-occlusion. The metrics of right ventricular myocardial work (RVMW) offer a novel indicator for evaluating right ventricular myocardial function in these patients. Moreover, ASD diameter and PASP emerge as independent determinants of RVGWI and RVGCW.

Shunt-mediated decompression sickness in a compressed air worker with an atrial septal defect.

We report a compressed air worker who had diffuse cutaneous decompression sickness with pain in his left shoulder and visual disturbance characteristic of migraine aura after only his third hyperbaric exposure. The maximum pressure was 253 kPa gauge with oxygen decompression using the Swanscombe Oxygen Decompression Table. He was found to have a very large right-to-left shunt across a 9 mm atrial septal defect. He had transcatheter closure of the defect but had some residual shunting with release of a Valsalva manoeuvre. Thirty-two other tunnel workers undertook the same pressure profile and activities in the same working conditions during the maintenance of a tunnel boring machine for a total of 233 similar exposures and were unaffected. As far as we are aware this is the first report of shunt-mediated decompression sickness in a hyperbaric tunnel worker in the United Kingdom and the second case reported worldwide. These cases suggest that shunt-mediated decompression sickness should be considered to be an occupational risk in modern compressed air working. A right-to-left shunt in a compressed air worker should be managed in accordance with established clinical guidance for divers.

Clinical Presentation and Therapy of Atrial Septal Defect.

Atrial septal defects (ASDs) occur in 1 of 1500 live births and constitute 6-10% of congenital heart defects. There is a female-to-male predominance of 2 to 1. According to their embryological origins, we can differentiate five different types of ASDs (see Fig. 23.1).

Molecular Pathways and Animal Models of Atrial Septal Defect.

The relative simplicity of the clinical presentation and management of an atrial septal defect belies the complexity of the developmental pathogenesis. Here, we describe the anatomic development of the atrial septum and the venous return to the atrial chambers. Experimental models suggest how mutations and naturally occurring genetic variation could affect developmental steps to cause a defect within the oval fossa, the so-called secundum defect, or other interatrial communications, such as the sinus venosus defect or ostium primum defect.

Evaluation of Inter-atrial Septal Defect Diameter and Left Ventricular Systolic Function in Children with Ostium Secundum Atrial Septal Defect in Enugu, Nigeria.

BACKGROUND: Children with ostium secundum atrial septal defect (OS ASD) usually present with varying degrees of ventricular dysfunction. OBJECTIVES: This study aimed to evaluate the left ventricular systolic function of children with OS ASD compared with control. METHODS: This was a cross-sectional study involving 113 children with OS ASD and 113 age- and sex- matched controls. Their age ranged from 1 month to 16 years. There were 49 males and 64 females in each group. Left ventricular systolic function of children with isolated OS ASD were compared with that of controls using echocardiography. Subjects and controls who fulfilled the inclusion criteria were consecutively recruited in the study. The data elicited from the study were analyzed with the IBM SPSS version 20 (IBM Corp, Chicago). RESULTS: The mean left ventricular mass (LV mass) of the control, 93.9±113.6 gm was significantly higher than that of subjects with OS ASD, 39.4±74.3 gm, (Mann Whitney U= 4.266, p< 0.001). Similarly, the mean left ventricular internal diameter in diastole (LVIDd) of the control,25.8±11.7 mm was significantly higher than that of participants with OS ASD, 19.9±7.1 mm (Mann Whitney U=4.522, p<0.001). The mean interventricular septal diameter in systole (IVSs) of the control, 7.2±3.5 mm was higher than that of participants with OS ASD, 5.0±1.9 mm and the mean difference was found to be statistically significant, (Student t=5.738, p<0.001). The mean left ventricular internal diameter in systole (LVIDs) of the control, 16.2±7.6 mm was significantly higher than that of participants with OS ASD, 12.9±5.8 mm, (Student t= 3.660, p< 0.001). There was no significant correlation between the size of interatrial septal defect of children with OS ASD and left ventricular systolic function and age :(Corr. Coef. 0.065, p= 0.492) ; EF( Corr. Coef. 0.121,p=0.202), FS (Corr. Coef. 0.139, p=0.143). CONCLUSION: Children with OS ASD had lower left ventricular mass compared with those with control. Females seem to have higher function than males.

CONTEXTE: Les enfants atteints de communication interauriculaire type ostium secundum (CIASOS) présentent généralement des degrés variables de dysfonction ventriculaire. OBJECTIFS: Cette étude visait à évaluer la fonction systolique ventriculaire gauche des enfants atteints de CIASOS par rapport à des témoins. MÉTHODES: Il s'agissait d'une étude transversale portant sur 113 enfants atteints de CIASOS et 113 témoins appariés selon l'âge et le sexe. Leur âge variait de 1 mois à 16 ans. Il y avait 49 garçons et 64 filles dans chaque groupe. La fonction systolique ventriculaire gauche des enfants présentant un CIASOS isolé a été comparée à celle des témoins à l'aide de l'échocardiographie. Les sujets et les témoins qui remplissaient les critères d'inclusion ont été recrutés consécutivement dans l'étude. Les données recueillies ont été analysées avec la version 20 d'IBM SPSS (IBM Corp, Chicago). RÉSULTATS: La masse moyenne du ventricule gauche (VG) du groupe témoin, 93,9±113,6 g, était significativement plus élevée que celle des sujets atteints d'OS ASD, 39,4±74,3 g (Mann-Whitney U = 4,266, p < 0,001). De même, le diamètre interne moyen du ventricule gauche en diastole (LVIDd) du groupe témoin, 25,8±11,7 mm, était significativement plus élevé que celui des participants atteints d'OS ASD, 19,9±7,1 mm (Mann-Whitney U = 4,522, p < 0,001). Le diamètre moyen du septum interventriculaire en systole (IVSs) du groupe témoin, 7,2±3,5 mm, était plus élevé que celui des participants atteints d'OS ASD, 5,0±1,9 mm, et la différence moyenne était statistiquement significative (Student t = 5,738, p < 0,001). Le diamètre interne moyen du ventricule gauche en systole (LVIDs) du groupe témoin, 16,2±7,6 mm, était significativement plus élevé que celui des participants atteints d'OS ASD, 12,9±5,8 mm (Student t = 3,660, p < 0,001). Il n'y avait pas de corrélation significative entre la taille du défaut septal interauriculaire chez les enfants atteints d'OS ASD et la fonction systolique du ventricule gauche et l'âge : (Coef. Corr. 0,065, p = 0,492) ; FE (Coef. Corr. 0,121, p = 0,202), FS (Coef. Corr. 0,139, p = 0,143). CONCLUSION: Les enfants atteints de CIASOS avaient une masse ventriculaire gauche plus faible que ceux du groupe témoin. Les filles semblent avoir une fonction plus élevée que les garçons. MOTS-CLÉS: Fonction ventriculaire gauche; Communication interauriculaire type ostium secundum (CIASOS); Malformation septale interauriculaire; Enfants; Échocardiographie.

Concomitant large atrial septal defect closure, biatrial cryoablation and tricuspid valve replacement with mitral homograft.

The concomitant large atrial septal defect closure, endocardial biatrial cryoablation and tricuspid valve replacement with mitral homograft in a patient with adult congenital heart disease is presented. Because of the severely dilated right ventricle and leaflet tenting, tricuspid valve replacement was considered. The patient refused both mechanical and stented biological prosthesis due to personal beliefs, therefore, the alternative valve substitute was proposed. Relevant decision-making process, preoperative diagnostic work-up and surgical technique are highlighted with satisfactory outcomes.

Inadvertent Puncture of Dilated Right Ventricle During Transversus Thoracic Muscle Plane Block: Lessons Learnt.

ABSTRACT: The transversus thoracic muscle plane (TTP) block is gaining widespread recognition in cardiac surgery, particularly in facilitating fast-tracking. Here, we report a case of inadvertent puncture of the right ventricle (RV) during the administration of ultra sound-guided (USG) TTP block in a 3-year-old child posted for atrial septal defect (ASD) closure and mitral valve repair. We also discuss the care that should be taken to avoid such complications and such cases require extra caution during TTP block.

Transcatheter Covered Stent Exclusion of Superior Sinus Venosus Defects.

BACKGROUND: Transcatheter correction of sinus venosus defects (SVDs) using balloon-mounted covered stents provides an attractive surgical alternative. Surgery may be complicated by superior vena caval or right upper pulmonary vein (RUPV) stenosis, sinus nodal dysfunction, and residual additional pulmonary veins. OBJECTIVES: Being a new intervention, technical modifications would simplify the procedure, improve universal applicability, and reduce or tackle complications. METHODS: Patients were included if balloon interrogation of cavoatrial junction confirmed closure of SVD and redirected RUPV to the left atrium. A single-center experience was analyzed to summarize the procedural modifications over 8 years. Transesophageal echocardiogram (TEE) on follow-up was done to identify residual shunt, RUPV flows, and stent thrombosis. RESULTS: A total of 100 patients including 9 children with a median age of 35 years (range, 4-69 years) underwent SVD closure after balloon interrogation. Among 57 patients balloon interrogated in the first 5 years, 70% underwent transcatheter closure, with 2 failures. RUPV occlusion caused the exclusions. Inclusions improved to 94% among the subsequent 65 balloon interrogations when RUPV protection was implemented, with 1 failure. Stent embolization caused the 3 failures warranting surgery. Recent modifications included limited transesophageal echocardiogram without anesthesia, avoiding venovenous circuit, interrogation with semicompliant balloons, trans-septal RUPV protection, overlapping stents to permit additional vein drainage to superior vena cava and tackle embolizations. There were no deaths. Minor complications included stent embolizations stabilized in catheterization laboratory in 2 patients, left innominate vein jailing in 2 patients, insignificant residual flows, and nonocclusive asymptomatic stent thrombosis in 4 patients. CONCLUSIONS: Procedural success was 97%. Recent modifications increased patient inclusions, decreased complications, and simplified the intervention.

Tumour lysis syndrome in a neonate with transient abnormal myelopoiesis.

BACKGROUND: Tumor lysis syndrome (TLS) is an oncological emergency associated with hematological malignancies or highly proliferative solid tumors, commonly after chemotherapy. It is rarely associated with transient abnormal myelopoiesis. OBSERVATION: We report a rare case of a neonate with transient abnormal myelopoiesis and tumor lysis syndrome, complicated with concomitant heart failure due to an underlying atrioventricular septal defect. Hyperhydration was contraindicated due to heart failure. The patient was managed conservatively with full recovery. CONCLUSION: Tumor lysis syndrome should be suspected in neonates with transient abnormal myelopoiesis with electrolyte abnormalities. Treatment options should be considered carefully for their risks and benefits.