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 (β = .405, P < .001; β = 2.307, P = .037) and RVGCW(β = .350, P<.001; β = 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.

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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 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.

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.

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.

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).

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.
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.

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.

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.
CONCLUSIONS: 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.