Atrial Septal Defect Patients Research Articles

Intensive Management of Postoperative Septic Shock in Patient with Secundum Atrial Septal Defect: A Case Report

Background: Sepsis is a life-threatening organ dysfunction caused by an abnormal inflammatory response to infection. This study aimed to describe the intensive management of postoperative septic shock in secundum atrial septal defect patients.
 Case presentation: A 28-year-old woman complaining of pus discharge and reddish swelling in the scar after a cesarean section operation. The patient has a history of pulmonary hypertension and secundum ASD. While in the ICU, examination of vital signs found the patient was weak, compost mentis conscious, blood pressure 80/55 mmHG (MAP 63), Respiration 28 times per minute, pulse 114 times per minute, temperature 38.6°C with 98% oxygen saturation with NRM 10 L/ and laboratory examinations obtained hemoglobin 8.6, leukocytes 14.870, platelets 236.000, hematocrit 24, albumin 2.4 and procalcitonin > 100.
 Conclusion: This study reported that septic shock is a life-threatening condition, especially in patients with congenital heart disease. Appropriate, rapid, and comprehensive treatment and addressing the source of infection are essential in managing sepsis shock.

Echocardiographic features and influencing factors of pulmonary hypertension of total anomalous pulmonary venous connection in adults.

Patients with total anomalous pulmonary venous connection (TAPVC) generally have symptoms during the neonatal period and infancy, and the fatality rate is extremely high. Most patients do not survive to adulthood. This study analyzed the clinical and transthoracic echocardiographic (TTE) manifestations of adult patients with TAPVC, summarized the echocardiographic characteristics of TAPVC, and identified the factors influencing pulmonary hypertension. Data from adult patients with TAPVC from Beijing Anzhen Hospital, China, were retrospectively collected for analyses, including sex, age, history of gestation, clinical manifestations, echocardiographic parameters, and blood oxygen levels. Patients were grouped for comparative analyses based on their pulmonary artery systolic pressure (PASP) (≥60 vs. <60 mmHg); 32 atrial septal defect (ASD) patients were included as a control group. (I) Sixteen patients were identified with TAPVC (11 women and 5 men; mean age: 32.2±9.5 years), including 8, 4, and 4 patients with supra-cardiac, mixed, and intracardiac type TAPVC, respectively. Furthermore, 10 patients had moderate or severe tricuspid regurgitation, and 6 had a PASP of ≥60 mmHg. Echocardiography misdiagnosed 2 patients with an ASD. (II) The TAPVC group patients had a smaller left atrium (LA) and a lower aorta/pulmonary artery ratio than ASD-only group patients. However, the right ventricular diameter (RVd) and right atrium were larger in patients with TAPVC than in those with only ASD. (III) The RVd was larger and the LA was smaller in patients with a PASP of ≥60 mmHg than in those with a PASP of <60 mmHg. (IV) Of those with a PASP of ≥60 mmHg, TAPVC patients had a smaller LA and a larger RVd than those with only ASD. (V) Pregnancy affected the PASP (adjusted odds ratio: 15.000, 95% confidence interval: 1.031-218.300, P=0.047). (VI) Echocardiography indicated that TAPVC patients with ASD had a right to left shunt at the atrial level and the pulmonary vein (PV) was not connected to the LA. Searching for the PV by TTE is necessary for patients with ASDs, which may help avoid misdiagnosis. Moreover, pregnancy affects the PASP. Patients with TAPVC may present with a larger right heart, smaller LA, and lower aorta/pulmonary artery ration than those with only ASD.

Left ventricular diastolic function in adult patients with an atrial septal defect and its age-dependent changes over time after transcatheter closure of the defect

Background: There are no echocardiographic (echoCG) criteria to predict whether adult patients with an atrial septal defect (ASD) will develop post-procedural left ventricular (LV) failure after the defect closure.&#x0D; Aim: To evaluate the LV diastolic function before and after the intervention in ASD patients depending on their age and, based on this, to identify potential echoCG risk factors for the development of acute heart failure immediately after the ASD closure.&#x0D; Materials and methods: This retrospective study included 69 patients with the mean age of 44.2 14.5 years and 57 (82.6%) being women. The patients were divided into 2 age groups: group 1 included 39 (56.5%) patients aged 18 to 49 years (mean SD, 35.4 9.4 years) and group 2, 30 (43.5%) patients aged 50 to 74 years (mean SD, 60.1 6.1 years). The characteristics of the ASD, heart chambers and LV diastolic function were assessed with transthoracic and transesophageal echoCG. The indexed indicators of the left atrial (LA) and LV volumes were measured before the intervention and in the postoperative period and compared. LV diastolic function was assessed by the e lateral (determined by tissue Doppler imaging, TDI) and E/e ratio (reference values 10 cm/s and 8, respectively).&#x0D; Results: The indexed LA volume at baseline in the second group was slightly higher than in the first one (27.6 9.8 ml/m2 and 25.4 7.1 ml/m2; p = 0.311), whereas there was no between-group difference in the baseline indexed LV volume parameters (41.8 7.9 ml/m2 and 42.4 8.6 ml/m2, respectively; p = 0.768). Immediately after the closure of the ASD, LV diastolic function deteriorated. In the patients below 50 years of age, this difference was non-significant, despite significant changes in the E/e values (from 7.6 3.6 to 9.9 4.1; p = 0.012). In the second age group, this parameter increased significantly (from 9.2 5.7 to 13.1 4.3, respectively; p = 0.005). The TDI index (e lateral) decreased in both groups: in the group 1, from 11.9 2.5 to 9.1 2.2 (p 0.001) and in the group 2, from 9.3 3.6 to 7.9 1.6 (p = 0.061). Two patients of the elderly group, in whom sings of LV failure were identified immediately after the defect closure, by echoCG showed the lowest TDI values (е lateral) (7.8 and 8.0 cm/sec before closure and 6.4 and 7.0 cm/sec thereafter), as well as the highest values E/e before closure (13.4 and 13.1, respectively). In the long-term (12.5 6.5 months on average), the E/e index decreased in both age groups, compared to that in the early postoperative period, approaching the preoperative parameters (group 50 years of age: 7.6 3.6 9.9 4.1 8.7 4.8, group 50 years of age, 9.2 5.7 13.1 4.3 10.8 5.6). The TDI e indicators also shifted close to their initial values, increasing from 9.1 2.2 to 11.6 1.9 in the group 50 years of age and from 7.9 1.6 to 8.9 2.8 in the group 50 years of age. In the long-term, the LA volume index in both groups was unchanged, compared to its baseline values. The indexed LV end diastolic volume and end diastolic diameter increased significantly at one year after the ASD closure in both groups; however, they did not fall outside the reference ranges, and the LV systolic function indicators remained at the same level.&#x0D; Conclusion: LA volumes and LV function demonstrated the expected positive remodeling after the transcatheter ASD closure. Potential echoCG risk factors for the development of acute heart failure immediately after the ASD closure were identified. These were low baseline rates of early diastolic velocity of the mitral ring (TDI e lateral) of less than 8.0 cm/sec and high LV filling pressure (E/e) of more than 13 in the patients with ASD.

Comparison of functional tricuspid regurgitation after transcatheter closure of atrial septal defect in patients with sinus rhythm and atrial fibrillation

Abstract Funding Acknowledgements Type of funding sources: None. Background Significant tricuspid regurgitation (TR) often improves during the long-term follow-up period after transcatheter atrial septal defect (ASD) closure. However, It is unknown whether ASD closure improves TR in patients with atrial fibrillation (AF). Methods Between 2016 and 2021, 66 consecutive patients (66% males, mean age 58 +/- 16 years, 30% with AF, 68% with severe/moderate TR) underwent transcatheter ASD closure and were evaluated with transthoracic echocardiography at baseline, 1day, 1 month and 1 year. Results Sinus rhythm(SR) group showed an improvement in TR one month after ASD closure, which persisted at 12 months, whereas AF group demonstrated no improvement in TR after one month and 1 year.(figure1) Right atrial volume index improved in both groups, but tricuspid annular diameter showed no improvement in AF group.(figure2)(figure3) Conclusion Decrease in tricuspid annular diameter was significantly associated with TR improvement after ASD closure. Our findings suggest that TR is less likely to improve in patients with AF since ASD closure had less impact in tricuspid annular diameter.

A patient with large ostium primum atrial septal defect who underwent open heart surgical closure with pericardial patch: a case report

Introduction: Atrial septal defect (ASD) is one of the most common congenital heart diseases and often diagnosed in adulthood. ASD represents a spectrum of disease with symptoms that vary from asymptomatic to right-sided cardiac volume overload, pulmonary arterial hypertension and atrial arrhythmias depending on the size of the defect, size of the shunt and associated anomalies. We reported a patient with large ostium primum ASD who underwent surgical closure with a pericardial patch. Case Description: A 18 years old man came with chief complaint of abnormal ECG results of the screening examination of police candidates from Bhayangkara Hospital Manado. The patient had no complaints during admission. The patient could still carry out daily activities without any obstacles. The patient also could do high intensity sport without complaints of shortness of breath, heavy chest, or headaches. .Electrocardiogram (ECG) examination showed sinus rhythm, heart rate 74 beats per minute, left anterior fascicular block (LAFB), complete right bundle branch block (RBBB) and fragmented QRS at inferior leads. Transthoracic and transesophageal echocardiography revealed large ostium primum ASD L-R shunt. Open heart ASD surgical closure with pericardial patch was done with good results and no residual shunt. Conclusion: Large ostium primum ASD are associated with significant systemic-to-pulmonary shunts that results in desaturation requiring surgical closure. Large shunt of ASD patients who have a dilated right heart are associated with increased age-related morbidity and mortality. ASD with right heart dilatation should be considered for closure once the diagnosis is established regardless of the patient's age.

Atrial septal defect patients have an elevated risk for infective endocarditis

Background. It has been unclear whether simple atrial septal defect (ASD) is an independent risk factor for infective endocarditis (IE). This study aimed to untangle the risk of endocarditis in a large nationwide cohort. Methods. We acquired data from the Finnish hospital discharge register on all individuals with ASD diagnosis from 1969 to 2019. Patients with complex congenital cardiac abnormalities were ruled out. Five individualized controls from the general population were matched to the ASD patient’s birth year, sex, and residence at the index date. All the patients with ICD-8, −9, or −10 diagnosis codes for IE were gathered from the hospital discharge registry. Results. Altogether, 8322 patients with ASD and 39,237 individualized controls were enrolled in the study. Median follow-up was 21.6 years (IQR 11.8–36.9) from the first hospital contact. In total, 24 (16 male) cases of infective endocarditis among ASD patients and 10 (8 male) cases among controls were diagnosed during the follow-up. The incidence of endocarditis was 0.11 per 1000 person-years in the patients with ASD and 0.011 per 1000 person-years in the controls. The adjusted risk ratio for endocarditis was 13.51 (95% CI: 6.20–29.46) in patients with ASD compared to the control cohort. Patients with ASD and endocarditis had higher long-term mortality than individualized control patients (MRR 2.25, 95% CI: 1.23–4.11). Conclusions. The incidence of IE in patients with ASD was higher than in the general population. Mortality associated with IE was higher in patients with ASD compared to controls.

Noninvasive right ventricular work in patients with atrial septal defects: a proof-of-concept study

BackgroundNoninvasive right ventricular (RV) myocardial work (RVMW) determined by echocardiography is a novel indicator used to estimate RV systolic function. To date, the feasibility of using RVMW has not been verified in assessing RV function in patients with atrial septal defect (ASD).MethodsNoninvasive RVMW was analysed in 29 ASD patients (median age, 49 years; 21% male) and 29 age- and sex-matched individuals without cardiovascular disease. The ASD patients underwent echocardiography and right heart catheterization (RHC) within 24 h.ResultsThe RV global work index (RVGWI), RV global constructive work (RVGCW), and RV global wasted work (RVGWW) were significantly higher in the ASD patients than in the controls, while there was no significant difference in RV global work efficiency (RVGWE). RV global longitudinal strain (RV GLS), RVGWI, RVGCW, and RVGWW demonstrated significant correlations with RHC-derived stroke volume (SV) and SV index. The RVGWI (area under receiver operating characteristic curve [AUC] = 0.895), RVGCW (AUC = 0.922), and RVGWW (AUC = 0.870) could be considered good predictors of ASD and were superior to RV GLS (AUC = 0.656).ConclusionThe RVGWI, RVGCW, and RVGWW could be used to assess RV systolic function and are correlated with RHC-derived SV and SV index in patients with ASD.Graphical

A Patient with Right-to-Left Shunt Atrial Septal Defect Without Pulmonary Hypertension

We present a case of atrial septal defect (ASD) in a 27-year-old young woman who presented with a right-to-left shunt despite normal pulmonary artery pressure without anomalous pulmonary venous drainage and only mild tricuspid regurgitation (TR), but it was associated with right ventricular dysfunction. Considering the dysfunction of the right heart and significant dilatation of the tricuspid annulus, the surgeon still decided to repair ASD and perform tricuspid valvuloplasty. The surgery lasted approximately three hours, and the whole procedure was smooth and uneventful. Her postoperative recovery was uneventful and discharged in good condition. The occurrence of right-to-left (R-L) shunting in patients with ASD is uncommon and is usually an ominous sign, heralding irreversible pulmonary hypertension (PH). There is little information about similar shunts for patients without PH and tricuspid regurgitation (TR), and the majority of these patients have an anatomic anomaly that favors this type of shunt. ASD with R-L shunt without Eisenmenger physiology is rarely reported and may be underestimated due to difficulty in its diagnosis. Intraoperative transesophageal echocardiography (TEE) examination should not only focus on cardiac structure but also the evaluation of ventricular function. Right-to-left shunt is possible in ASD patients even with normal pulmonary arterial pressure.

Successful ablation of atrial fibrillation in a patient with a highly calcified septum after an atrial septal defect operation.

Successful ablation of atrial fibrillation in a patient with a highly calcified septum after an atrial septal defect operation.

Outcome of transcatheter atrial septal defect closure in a nationwide cohort

Background Transcatheter (TC) atrial septal defect (ASD) closure has been the mainstay of therapy for secundum-type ASDs for over 20 years. Aims This nationwide cohort evaluated the long-term outcome of transcatheter-closed ASDs. Methods The study enrolled every transcatheter ASD closure performed in Finland from 1999 to 2019. Five age, sex, and municipality-matched controls per ASD patient were gathered from the general population. The median follow-up period was 5.9 years (range 0–20.8). We used the hospital discharge register to gather all hospital visits and diagnoses. Closure complications and echocardiographic changes were collected from the electronic health records. Results Transcatheter ASD closure was performed in 1000 patients (68.5% females) during the study period. The median (range) age at the time of the procedure was 37.9 (1.8–87.5) years. ASD patients had an increased risk for new-onset atrial fibrillation (RR 2.45, 95% CI: 1.84–3.25), migraine (RR 3.61, 95% CI: 2.54–5.14), ischemic heart disease (RR 1.73, 95% CI: 1.23–2.45), ventricular fibrillation/tachycardia (RR 3.54 (95% CI: 1.48–8.43) and AV conduction disorder (RR 3.60, 95% CI: 1.94–6.70) compared to the control cohort. Stroke risk was not increased (RR 1.36, 95% CI: 0.91–2.03). Adverse events occurred in 6.3% (n = 63) of the patients, including four erosions and ten device embolizations. Conclusion After TC closure of ASD, patients had a higher risk of new-onset atrial fibrillation and migraine than controls without ASD. As novel findings, we found an increased risk for ischemic heart disease, AV conduction disorders, and ventricular fibrillation/tachycardia. Key messages Even though patients have an excellent overall prognosis after percutaneous ASD closure, the increased incidence of major comorbidities like atrial fibrillation and heart failure prompts more thorough lifelong follow-up. This study’s novel findings revealed the increased risk for ischemic heart disease, AV conduction disorders, or ventricular tachycardia/fibrillation during the follow-up. Major complications after the closure are rare; erosion is seen in 0.4% of the patients and embolization in 1.0% of the patients.

Effect of concomitant atrial septal defect on left ventricular function in adult patients with unrepaired Ebstein's anomaly: a cardiovascular magnetic resonance imaging study

BackgroundDue to the heterogeneity of anatomic anomalies in Ebstein's anomaly (EA), particularly in the subset of patients with atrial septal defect (ASD), hemodynamic changes, which ultimately cause left ventricular (LV) deterioration remain unclear. The current study aimed to investigate the effect of concomitant ASD on LV function using cardiovascular magnetic resonance (CMR) imaging in patients with EA. MethodsThis study included 31 EA patients with ASD, 76 EA patients without ASD, 35 patients with simple ASD and 40 healthy controls. Left/right ventricular (RV, the RV was defined as a summation of the functional RV and atrialized RV in EA patients) volumes and functional parameters, LV strain parameters, and echocardiogram indices were compared among the four groups. Associations between variables were evaluated via Spearman or Pearson correlation analyses. The association between risk factors and LV ejection fraction (EF) was determined via multivariate linear regression analysis. ResultsBoth EA patients and ASD patients had a higher RV/LV end-diastolic volume (RVEDV/LVEDV) as well as lower LV and RV ejection fractions (LVEF/RVEF) compared to healthy controls (all p < 0.05). Moreover, the EA patients with ASD had a significantly higher RVEDV/LVEDV and a lower LVEF and RVEF than those without ASD (all p < 0.05). Multivariate linear regression analysis revealed that the presence of ASD was independently associated with LVEF (β = − 0.337, p < 0.001). The RVEDV/LVEDV index was associated with LVEF (r = − 0.361, p < 0.001). Furthermore, the LV longitudinal peak diastolic strain rate (PDSR) was lower in EA patients with ASD than those without ASD, patients with simple ASD, and healthy controls (p < 0.05). ConclusionConcomitant ASD is an important risk factor of LV dysfunction in patients with EA, and diastolic dysfunction is likely the predominate mechanism related to LV dysfunction.

Predictors of improvement after device closure of Atrial Septal Defect in patients above 30 years

Predictors of improvement after device closure of Atrial Septal Defect in patients above 30 years

Genetic Analysis of Variants of the MYH6 Gene Promoter in Congenital Atrial Septal Defects

Background: Atrial septal defect (ASD) is one of the common congenital heart diseases. The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored. Methods: In 613 subjects including 320 ASD patients, we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis. Results: Eleven variants were identified in the MYH6 gene promoter, of which four variants were found only in ASD patients, and two variants (g.3434G>C and g.4524C>T) were identified for the first time. Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter (p < 0.05). Subsequent analysis through the JASPAR (A database of transcription factor binding profiles) suggests that these variants may alter transcription factor binding sites, which may in turn lead to changes in myocardin subunit expression and ASD formation. Conclusions: Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance. The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.

Global Longitudinal Strain Right Ventricle (GLS RV) as a Predictor for Mean Pulmonary Artery Pressure (MPAP) on Secundum Atrial Septal Defect (ASD) with Pulmonary Hypertension.

The objectives of the study were to determine the association between global longitudinal strain right ventricle (GLS-RV) and mean pulmonary artery pressure (mPAP) on secundum atrial septal defect (ASD) with pulmonary hypertension (PH). This study was an analytic observational with the cross-sectional approach. This study was conducted with secundum ASD patients who underwent right heart catheterization (RHC) from February 2019 to July 2019 at Sardjito General Teaching Hospital Yogyakarta. Demographic data were collected and echocardiographic parameters were evaluated based on the standard examination. The results were statistically analyzed using the correlation hypothesis test. If the data were normally distributed, the Pearson's correlation test was used, if the data were not normally distributed, Spearman's correlation test was used to analyze the correlation. Thirty-four patients were enrolled in this study. There was strongly significant positive correlation between GLS-RV and mPAP found in patients with Secundum ASD (P = 0.0001, r = 90.5%). This is the first study in Indonesia that analyzed the association between GLS-RV and mPAP in Secundum ASD patients. There was a strongly significant positive correlation between GLS-RV and mPAP in patients with Secundum ASD after RHC. We assume that the association is influenced by progressivity and degree of disease severity.

Assessment of atrial septal defects using 3-dimensional transthoracic echocardiography prior to percutaneous device closure: first report from Bangladesh.

Secundum atrial septal defect (ASD) is treated following trans-catheter closure in alternative to surgical treatment. Per-intervention selection of device size with balloon occlusive diameter (BOD) often cause tearing or enlarging, causing arrhythmias and hypotension. We assessed the suitability of percutaneous device closure for ASD using 3-dimensional transthoracic echocardiography (3DTTE). This study was conducted to investigate if 3DTTE could be an alternative of balloon sizing for selection of device size in atrial septal defect device closure. It was a cross-sectional comparative study. This study was conducted at the department of Pediatric Cardiology, Bangabandhu Sheikh Mujib Medical University for a period of 2 years. Thirty-three purposively selected secundum ASD patients suitable for device closure were included in the study. Ethical permission was taken from the Institutional Review Board and written consent was taken from each patient's guardian. In this study, 3DTTE derived ASD diameter and BOD were compared with that of deployed device size using correlation analysis. Out of 33 patients, 63.6% were female and 36.4% were males had a mean age of 18.07 ± 14.58 years (range 2-55 years). Mean diameter of ASD measured by 2-dimensional (2D) and 3-dimensional (3D) echocardiography were 17.09 ± 6.08 mm and 21.30 ± 6.56 mm, respectively, yielding a significant difference (p < 0.001). 3D echocardiography derived ASDs diameter were highly correlated with device size than BOD and 2D echocardiography derived diameter (2D echocardiography: r = 0.796, p = <0.001, 3D echocardiography: r = 0.960, p = <0.001, BOD: r = 0.840, p = <0.001). 3DTTE can accurately measure ASD diameter and can be used as an alternate, effective, and safe method to select device size.

Abstract 9885: Possible Risk Factors of In-Hospital Death Among Acute Ischemic Stroke Patients With Atrial Septal Defect; A Study From the 2019 National Inpatient Sample

Introduction: Atrial septal defect (ASD) is one of the most common congenital cardiac defects. It can also allow paradoxical emboli to move into the cerebral vasculature leading to Acute Ischemic Stroke (AIS). As there is a lack of adequate information on the additional risk factors for mortality in ASD patients following AIS, we queried the largest inpatient database in the United States for answers. Methods: Patients with ASD were identified among patients of ages 25 and more admitted with a principal diagnosis of AIS ICD-10 code (I63.x) in 2019 from the National Inpatient Sample(NIS). Various patient characteristics and procedures were also studied. A Multivariate regression model adjusting for several factors allowed our study to further evaluate potential risk factors for mortality among ASD patients. Results: Our study found 551,385 cases of AIS, amongst which 19,670 (3.6%) also had a diagnosis of ASD. ASD patients had a higher risk of requiring mechanical thrombectomy (aOR 1.239, 95% CI 1.167- 1.316, p&lt;0.01) and intravenous tissue plasminogen activator (IV tPA) (aOR 1.177, 95% CI 1.125-1.230, p&lt;0.01). Unfortunately, 1.5% (295 cases) of patients with ASD died. A higher risk of mortality among ASD patients was seen if they had also undergone mechanical thrombectomy (aOR 2.839, 95% CI 2.033-3.936), while a lower risk of mortality was seen among those ages 25-60 (aOR 0.695, 95% CI 0.540-0.894, p&lt;0.01) compared to those above 60, among those who underwent tPA (aOR 0.485, 95% CI 0.306-0.769, p&lt;0.01), smokers (aOR 0.550, 95% CI 0.423-0.715), and those with hyperlipidemia (aOR 0.374, 95% CI 0.290-0.482, p&lt;0.01). A lower overall mortality risk among ASD patients following AIS (1.5% vs 3.8%) was also seen (aOR 0.393, 95% CI 0.349-0.441, p&lt;0.01). Conclusions: While several studies have shown that ASD predisposes to a higher risk of developing AIS, our study found that the risk of mortality among ASD patients following admission for AIS was lower than non-ASD patients. However, mechanical thrombectomy was associated with a higher risk of death among these patients. Further studies to understand the associated reasons, pathways, and methods to improve their outcomes should thus be encouraged.

Identification and functional analysis of genetic variants of ISL1 gene promoter in human atrial septal defects.

Atrial septal defect (ASD) is a common type of congenital heart disease. A gene promoter plays pivotal role in the disease development. This study was designed to investigate the pathological role of variants of the ISL1 gene promoter region in ASD patients. Total DNA extracted from 625 subjects, including 332 ASD patients and 293 healthy controls, was sequenced to identify variants in the promoter region of ISL1 gene. Further functional analyses of the variants were performed with dual luciferase reporter assay and electrophoretic mobility shift assay (EMSA). All possible binding sites of transcription factor affected by the identified variants were predicted using the JASPAR database. Four variants in the ISL1 gene promoter were found only in patients with ASD by sequencing. Three of the four variants [g.4923 G > C (rs541081886), g.5079 A > G (rs1371835943) and g.5309 G > A (rs116222082)] significantly decreased the transcriptional activities compared with the wild-type ISL1 gene promoter (p < 0.05). The EMSA revealed that these variants [g.4923 G > C (rs541081886), g.5079 A > G (rs1371835943) and g.5309 G > A (rs116222082)] in the ISL1 gene promoter affected the number and affinity of binding sites of transcription factors. Further analysis with the online JASPAR database demonstrated that a cluster of putative binding sites for transcription factors may be altered by these variants. These sequence variants identified from the promoter region of ISL1 gene in ASD patients are probably involved in the development of ASD by affecting the transcriptional activity and altering ISL1 levels. Therefore, these findings may provide new insights into the molecular etiology and potential therapeutic strategy of ASD.

Alteration of Pulmonary Venous Flow Doppler Post Transcatheter Closure of Atrial Septal Defect

Background: Atrial septal defect is a common congenital heart anomaly results in hemodynamically significant right ventriclular volume overload and an increase in the pulmonary venous flow.&#x0D; Aim: Evaluate changes of pulmonary venous flow parameters after transcatheter closure of secundum atrial septal defect.&#x0D; Patients and Methods: 50 patients with atrial septal defect aged from 3.5 to 31 years were included in the study. Pulmonary venous flow Doppler and right ventricular function were evaluated before and after successful transcatheter closure by transthoracic and transesophageal echocardiography.&#x0D; Results: The defect size ranged from 15 to 37mm with a mean (24.96 ±7.52), Normal systolic and diastolic waves of pulmonary venous flow Doppler were replaced by a continuous antegrade wave (mean 60±13.6 cm/s) in all atrial septal defect patients. Post-closure, the normal pulmonary venous flow pattern was regained, two separate waves, with a significant decrease in mean peak Systolic wave velocity (44.54±8.12 cm/sec vs 69.61±12.37, P=0.000), the mean peak Diastolic Wave velocity (55.85±9.81 cm/sec vs 72.65±10.38, P=0.000) and a significant increase in the mean peak atrial reversal wave velocity (28.75±4.63cm/sec vs 21.18±3.64, P=0.000). In multivariate regression analysis, significant predictors of haemodynamic significant ASD were ASD size,(odds ratio 1.508, P=0.007, 95% CI 1.153,2.671) and ASD/IAS ratio (odds ratio 2.313, P=0.001, 95% CI 1.064,3.104).&#x0D; Conclusions: Atrial septal defect patients have characteristic pulmonary venous flow pattern: continuous antegrade wave with systolic predominance and decrease in atrial reversal wave, which return to normal after closure. These changes could be helpful echocardiographic tool in prediction of successful closure of the defect.

Operability of atrial septal defect with borderline pulmonary vascular resistance index: A study in developing country.

Pulmonary arterial hypertension secondary to atrial septal defect (ASD) is an important determinant of morbidity and mortality in defect closure. We aimed to compare perioperative outcome between preoperative borderline and low pulmonary vascular resistance index (≥4 WU.m2 and <4 WU.m2, respectively) in surgical closure of secundum atrial septal defect with concomitant pulmonary arterial hypertension. This was a single-center retrospective cohort study between January 2015 and January 2020. We classified patients with low and borderline PVRI who underwent ASD closure and recorded the perioperative outcomes. We analyzed a total of 183 patients with atrial septal defect and pulmonary arterial hypertension; 92 patients with borderline PVRI and 91 patients with low PVRI. Borderline pulmonary vascular resistance index was not associated with increased risk of postoperative mortality (p = 0.621; OR0.48, 95% CI 0.04-5.48), but associated with higher risk of overall morbidity in bivariate analysis (p = 0.002; OR3.28, 95% CI 1.5-6.72). Multivariate analysis showed positive association of borderline pulmonary vascular resistance index (p = 0.045; OR2.63, 95% CI 1.02-6.77) and preoperative tricuspid valve gradient ≥64 mmHg (p = 0.034; OR2.77, 95% CI 1.08-7.13) with overall morbidity. There is no difference in incidence of in-hospital mortality between preoperative borderline and low pulmonary vascular resistance index patients. However, preoperative borderline pulmonary vascular resistance index and tricuspid valve gradient ≥64 mmHg are associated with increased overall morbidity after surgical closure in secundum atrial septal defect patients with pulmonary arterial hypertension.

Can a simple echocardiographic Doppler VTI based flow comparison between the RVOT and LVOT assist in identifying patients with a significant atrial septal defect?

Abstract Background Detection of haemodynamically significant shunting from atrial septal defect (ASD) can be identified by using the pulmonary-systemic flow ratio (Qp/Qs). However, calculation of Qp/Qs by echocardiography relies on geometric assumptions that outflow tracts are circular, suffers from squared linear measures, and accurate measurement of right ventricular outflow tract (RVOT) diameter is challenging. Whilst adults with ASD should have overt right ventricular dilatation, RV sizing on echocardiography is often subjective and underappreciated. We evaluated whether a dimensionless index of flow (VTI) differences between the RVOT and left ventricular outflow tract (LVOT) could assist in identifying patients with ASD, and compared it with relative atrial index (RAI), a parameter previously assessed in identifying atrial shunting. Methods Data from 64 consecutive patients who underwent ASD closure and had no concomitant lesions, were compared with 63 normal controls. RVOT VTI, LVOT VTI, LVOT diameter, and atrial areas were measured. Results Between controls and ASD patients, there was no difference in LVOT VTI or forward stroke volume, but ASD patients had significantly higher RVOT VTI. The RVOT-LVOT VTI ratio was 1:1 in controls and 1.5:1 in ASD patients. Area under the ROC curve analysis of RVOT-LVOT VTI ratio was 0.83, and a ratio of 1.1:1 predicted patients with ASD with 86% sensitivity and 73% specificity. In comparison, the area under the ROC curve analysis of RAI was 0.70, and an RAI of 1.05:1 predicted patients with ASD with 77% sensitivity and 44% specificity. Conclusion Calculation of the dimensionless RVOT-LVOT VTI ratio is simple, and may be a useful additional semi-quantitative tool to assist cardiologists and sonographers in detecting atrial shunting, particularly in patients with borderline or overt right heart dilatation, and identify who patients should undergo further evaluation. Funding Acknowledgement Type of funding sources: None.