Secondary Atrial Septal Defect Research Articles

A rare clinical case of pulmonary artery sarcoma

Pulmonary artery sarcoma (PAS) is a malignant and very rare tumor with frequent misdiagnosis. A rare clinical case with this pathology is presented. The patient had daily fever for 6 months, he was examined in various hospitals, but the cause of fever could not be determined. In our hospital, echocardiography revealed a mass in the left pulmonary artery (PA) with obstruction. CT-angiopulmonography showed a filling defect in the left PA, blocking the lumen of the artery by 90%. According to histopathology, the patient was diagnosed with pulmonary artery sarcoma. Subsequently, the following was performed: thrombendarterectomy from the pulmonary artery, combined pneumonectomy on the left side, suturing of the secondary atrial septal defect, followed by 3 courses of monochemotherapy with paclitaxel. After 1 year and 9 months, due to disease progression the patient died. The prognosis of PAS depends on early diagnosis, so doctors should be aware of this disease and use the best treatment options.

Effects of percutaneous closure of atrial septal defects via the right internal jugular vein.

Percutaneous atrial septal defect (ASD) closure is the preferred treatment for patients with suitable ASD anatomy. The safety and effectiveness of transcatheter closure have been established. However, reports on transesophageal echocardiography (TEE)-guided percutaneous closure of ASD via the right internal jugular vein (RIJV) are limited. The study aims to discuss the safety and effectiveness of percutaneous trans-jugular vein closure of ASD. We conducted a retrospective analysis of patients (n=103) with secondary ASD who underwent surgical treatment in the Department of Cardiovascular Surgery, the Second Hospital of Jilin University between July 2015 to July 2022. The article is a cross-sectional study. Clinical data, including age, gender, weight, defect diameter, tricuspid regurgitation, left atrial (LA) size, and the operation results, were collected and evaluated. Nonparametric rank sum tests were used to assess tricuspid regurgitation before and after surgery, while paired sample t-tests were used to compare LA size before and after surgery. TEE-guided percutaneous closure of ASD via the RIJV was successfully performed in 97 out of 103 (94.2%) cases. The average procedure time was 34.48±13.06 min, and the mean age at the time of the procedure and ASD size were 36±18 years and 15.45±5.82 mm, respectively. On analyzing medical records and echocardiographic images, postoperative complications were found to occur in four (3.9%) patients. Among these, three patients had residual shunt as indicated by echocardiography during the operation, which subsequently disappeared at the three-month follow-up. One patient developed atrial fibrillation after surgery but returned to normal sinus rhythm with medication. Percutaneous closure of ASD via the RIJV was unsuccessful in 6 patients (5.8%), with 5 of them undergoing transthoracic ASD closure and achieving satisfactory results. One patient refused further surgical treatment. No pericardial effusion, thrombosis, atrioventricular block, or other complications were observed during the 3-month to 1-year follow-up period. ASD closure via the RIJV is a safe and effective therapeutic approach. The initial results are satisfactory, but further studies with large sample sizes and long-term follow-up are warranted to assess the long-term outcomes.

Catheter Ablation of Paroxysmal and Persistent Atrial Fibrillation in Patients with Secondary Atrial Septal Defect. Evaluation of the Results and Impact on the Quality of Life

Introduction. The presence of atrial fibrillation (AF) in patients with secondary atrial septal defect (ASD) has significant impact on their quality of life (QoL) and reduces life expectancy. Current guidelines recommend catheter ablation (CA) for patients with AF in case of medical treatment failure, however, its use in patients with AF and ASD is still poorly studied.
 The aim. To study the efficacy and safety of CA and its impact on the QoL in patients with AF and secondary ASD.
 Materials and methods. In 2003-2023, 1408 patients with secondary ASD were treated at the National Amosov Institute of Cardiovascular Surgery of the National Academy of Medical Sciences of Ukraine. Of these, 54 patients who had AF and underwent the CA procedure were included in group 1 of our study. There were 36 (66.7%) men and 18 (33.3%) women aged 24-76 years (mean age 61.4 ± 9.8 years). Four (9.3%) patients had persistent AF and 50 (90.7%) patients had paroxysmal AF. Fifty-six patients with paroxysmal or persistent AF and with the comparable age, duration of symptoms and associated pathology but without ASD were examined as group 2. The type and results of surgical interventions were analyzed according to surgical reports. The results of the treatment and QoL were assessed using the Atrial Fibrillation Effect on Quality-of-Life (AFEQT) questionnaire during the follow-up period 1, 2 and 3 months after the procedure.
 Results. Pulmonary vein isolation was performed in all 54 (100%) patients of the group 1, as well as cavotricuspid isthmus ablation in 26 (48.2%) cases, cavotricuspid isthmus ablation and left atrial linear ablation in 2 (3.6%) cases. Type, length and complication of the procedure were comparable to those in the group 2. Fourty-four (81.5%) patients with ASD were free from AF 3 months after procedure, and their results did not differ from those obtained in the group 2 (p > 0.05). Average QoL indicators according to AFEQT significantly improved in both groups of patients who underwent CA. The differences in post-treatment QoL between patients of both groups were insignificant (p > 0.05).
 Conclusions. CA was found to be safe and beneficial in patients with AF and secondary ASD. The rate of procedural complications and cure rate in patients with AF and secondary ASD (81.5%) were compatible to those in patients without ASD (80.5%). AF has negative effect on the main indicators of the patient’s life. In patients with secondary AF with ASD who underwent CA, a significant improvement in AF symptoms and QoL according to the AFEQT questionnaire (total score 56.1 ± 2.7 before the procedure vs. 78.7 ± 4.0 at follow-up) was noted.

Features of radiofrequency catheter ablation in patients with atrial fibrillation and secondary atrial septal defect

Objective. To study the peculiarities of radiofrequency catheter ablation in patients with atrial fibrillation and secondary atrial septal defect. 
 Materials and methods. During 2008­2022, 54 (4.8%) patients underwent catheter ablation for atrial fibrillation at the Amosov National Institute of Cardiovascular Surgery of the National Academy of Medical Sciences of Ukraine. The type, early and long­term results of surgical interventions were analyzed.
 Results. Pulmonary vein isolation was performed in all 54 (100%) patients; linear ablation of the left atrium ­ in 2 (3.7%), ablation of the cavotricuspid isthmus ­ in 28 (52.0%). The average duration of the procedure was (204.3 ± 60.5) minutes. Complications occurred in 9 (16.7%) patients. Atrial fibrillation was not detected in 44 (81.5%) patients with a secondary atrial septal defect 3 months after the procedure.
 Conclusions. Radiofrequency catheter ablation in patients with atrial fibrillation and secondary atrial septal defect is an effective and safe procedure with minimal complications. However, patients should be carefully selected for this procedure in the presence of an occluder and appropriate preoperative preparation should be performed.

A case report of prenatal diagnostics and surgical correction of pulmonary agenesis associated with total anomalous pulmonary venous connection and vascular ring

Abstract Pulmonary agenesis is a rare malformation associated with congenital heart disease and may lead to a life-threatening condition and death without pre-planned surgical and medical support. We report an unusual case of unilateral pulmonary agenesis in combination with total anomalous pulmonary venous connection, complete vascular ring, retroaortic, retroesophageal innominate vein, secondary atrial septal defect, which was prenatally identified by fetal ultrasound and magnetic resonance imaging, later confirmed by postnatal computed tomography.

ОПЫТ ХИРУРГИЧЕСКОГО ЛЕЧЕНИЯ РЕБЕНКА ГРУДНОГО ВОЗРАСТА С СИНДРОМОМ ЯТАГАНА: КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ

Scimitar syndrome (SS) is an extremely rare congenital heart disease (CHD). There are two main clinical forms of the disorder: adult and infant. The usual course of the infantile form is characterized by an unfavorable prognosis. According to some reports the mortality could reach 100% without surgical treatment. The results of surgical treatment in this age group are currently unsatisfactory. Authors represent a clinical case of SS in a 4.5 months old male patient, who was in moderate and relatively stable condition upon admission. The severity of the patient’s condition was mainly caused by the progressive cardiac and respiratory failure. The diagnoses of CHD, SS were established during the clinical and instrumental examination: partial anomalous drainage of the right pulmonary veins into the inferior vena cava, hypoplasia of the right branch of the pulmonary artery, hypoplasia of the right lung, sequestration of the right lung, dextrocardia, secondary atrial septal defect (ASD), therefore, the indications for surgical correction were also identified. Ligation of the systemic pulmonary anastomoses, reimplantation of the right pulmonary vein collector into the left atrium, suturing of ASD under cardiopulmonary bypass and hypothermic circulatory arrest had been performed. The postoperative period was difficult: the patient was supported with an artificial lung ventilation for long time. He was transferred to the general somatic department on the 28th day after the surgical intervention, which was then followed by a favorable long-term result. Conclusion: Authors represent a successful case of radical surgical treatment of a child aged 4.5 months old with a rare CHD using the non-standard technique for reimplantation of the pulmonary vein collector as well as the features of intraoperative support.

Endovascular Closure of Secondary Septal Defect in Children with Low Body Weight

The aim. To assess the effectiveness and safety of transcatheter closure of a secondary atrial septal defect (ASD) using an occluder in symptomatic children weighing ≤10 kg.
 Materials and methods. In the period from November 2014 to June 2021, on the basis of the National Amosov Institute of Cardiovascular Surgery of the National Academy of Medical Sciences of Ukraine, closure of secondary ASD using an occluder was performed in 18 patients, among them 13 women (72.2%) and 5 men (27.8%). Th e mean age of the patients was 18.94±9.44 months (the youngest patient was 12 months, the oldest was 4 years). The mean weight was 9.294±1.170 kg (6.4 kg to 10 kg), the mean Z-score was -1.7±1.5 (-4.6 to 0.46), the mean height was 80 cm (71 cm to 88 cm). According to the measurements by transesophageal echocardiography (TEE), the average size of the defects was 13.7 mm±3.6mm (the largest 18.0 mm, the smallest 6.0 mm).
 Results and discussion. In our publication, the effectiveness of the method was 100% (18/18), while the world statistics show 94-95%. Th e frequency of complications was 5.6% (n=1). We suggest that this is associated with the use of a sizing balloon and careful selection of the device.
 When choosing treatment tactics for symptomatic children weighing ≤10 kg, the decisive factor was the determination of the presence of edges and the size of the defect. Defects were considered suitable for closure, according to TEE data, when all margins of the defect were ≥4 mm, except for the aortic margin. Although the total length of the interatrial membrane was taken into account, it was not of decisive importance, since for most occluders with the presence of all edges, the fields of the implant could not interfere with the work of the anatomical structures of the heart. To determine the real size of the defect, we recommend a measuring balloon under TEE control.
 The following devices were used to close the defect: MemoPart ASD occluder, Amplatzer Septal Occluder, LifeTech HeartR Occluder, LifeTech HeartR Multi-Fenestrated Atrial Septal Defect (MF-ASD) Occluder.
 
 Conclusion. After the study, we are convinced that the endovascular method of closing a hemodynamically significant secondary ASD for the treatment of children with a body weight of ≤10 kg has proven to be an effective method, with successful implantation of the occluder in 100% of cases.

Incidence of atrial fibrillation and its related factors in patients over 40 years old with secondary atrial septal defect before and after interventional closure

Incidence of atrial fibrillation and its related factors in patients over 40 years old with secondary atrial septal defect before and after interventional closure

Minimally invasive and endovascular closure of atrial septal defect in children of different ages

Highlights. The article presents the outcomes of endovascular and minimally invasive atrial septal defect closure in children under the age of 3 and aged 3 to 18 years with subsequent assessment of heart remodeling.Aim. To compare the outcome and features of cardiac remodeling (CR) in children under and over 3 years of age after minimally invasive (MI) and endovascular closure of atrial septal defect (ASD).Methods. The retrospective single-center study included 100 children with secondary ASD who underwent endovascular and MI ASD closure. The patients were divided into 2 groups. The first group (n = 42) included children under the age of 3 years after MI and EC, the median age was 2 years [1.5; 3], and the second group (n = 58) included children aged 4-18 years after MI and EC, the median age was 7 years [6; 12], respectively, p = 0.001. According to the design of the study, the groups statistically differed in height and body weight (p = 0.001). According to the ASD diameter, there were no differences between the groups (p<0.05) in the number of patients with perforated atrial septal aneurysms and aortic rim deficiency. During inpatient care and 3–4 months after surgery, the outcome and indices of CR obtained by echo imaging were assessed.Results. Surgical outcomes and medium-term follow-up analysis revealed that all children in both groups successfully underwent ASD closure in the absence of residual shunts. There were no hospital-acquired and medium-term complications. The length of hospital stay of children under 3 years was 7.5 days. [3; 9], which was significantly longer in comparison with the children of the older age group (3 days. [3;7]), (p = 0,001). ICU length of stay in the younger group of children was 24 hours [0; 24], while in the older group it was 0 days. [0; 24], p = 0,001. In the postoperative period, hemoglobin levels significantly decreased in children under 3 years of age (from 124.5 [119; 130] g/L, to 105 [97; 122] g/L, (p = 0.001)), while in the older age group this indicator remained the same. The analysis of features of CR during 3-4-month follow-up in both groups revealed that the initial changes indicating pathological CR were more pronounced in children older than 3 years. Significant dynamics of echocardiographic indices were observed in both groups during follow-up period, it manifested in the form of an increased volume and size of the left heart, and decreased volume and size of the right heart.Conclusion. Endovascular and minimally invasive ASD closure is an effective and safe technique of ASD closure in children of various ages. In children over 3 years of age, pathological CR is initially more pronounced than in children under 3 years of age, indicating the expediency of an early ASD closure. At the same time, younger children more often require mechanical ventilation, cardiopulmonary bypass, and a longer hospital stay and ICU stay. Higher number of EC performed in the group of young children could offset these negative consequences. Changes in CR indices after ASD closure in groups of children of different ages demonstrates comparable positive trends.

Surgical correction of congenital heart disease (atrial septal defect) in HIV patient

Presented clinical case demonstrates a successful surgical treatment results of long-term existing hemodynamically significant congenital heart disease (secondary atrial septal defect and pulmonary stenosis with secondary tricuspid regurgitation) in a patient with HIV infection after correction the immunodeficiency status and reducing the viral load.

Ventricular Myocardial Function and Central Hemodynamics in Patients with Secondary Atrial Septal Defect and Persistent or Paroxysmal Atrial Fibrillation

Background. Atrial fibrillation (AF) is the world’s most frequent arrhythmia associated with significant morbidity and mortality. Non-invasive multimodal imaging provides all necessary information for tactical decisions about radiofrequency catheter ablation and other methods of pharmacological and invasive AF treatment. Survival of patients with congenital heart diseases (CHDs) has grown over the past years. Still, there is a significant gap in evidence-based data regarding management of such patients with AF. Previously in Ukraine there were no studies of echocardiography parameters in patients with CHDs with paroxysmal or persistent AF, namely, those to find predictors for successful AF treatment before atrial septal defect (ASD) surgical or percutaneous closure.
 The aim. To evaluate ventricular myocardial function and central hemodynamics in patients with secondary ASD and paroxysmal or persistent AF compared to patients with paroxysmal or persistent AF without CHD.
 Methods. Weexamined54patients(36[66.7%]menand18[33.3%]women)aged61.4±9.8yearswithsecondaryASDand paroxysmal or persistent AF. Control group included 56 patients (38 [67.9%] men and 18 [32.1%] women) without CHD with non-valvular paroxysmal or persistent AF. All the patients underwent transthoracic and transesophageal echocardiography with tissue Doppler imaging and speckle-tracking echocardiography for longitudinal myocardial strain evaluation.
 Results. The patients in the study and control groups were comparable in terms of age and gender as well as comorbidities and cardiovascular risk factors. There were significant differences in the left heart remodeling indices and central hemodynamics alteration grades, for instance, the patients of the study group had significantly higher grade of left ventricular (LV) hypertrophy. Patients with ASD also had significantly more dilated LV and left atrium (LA) cavities and higher combined indices of LV filling pressure – E/E’ (14.9±4.2 vs. 9.6±5.3, p<0.0001) and E/Vp (2.84±0.44 vs. 2.25±0.61, p<0.0001), explaining more frequent AF in patients with ASD. The study group patients also had significantly higher systolic (sPAP) (52.4±2.8 vs. 44.6±3.2, p<0.0001) and mean (mPAP) (38.6±4.3 vs. 31.7±1.9, p<0.0001) pulmonary artery pressure compared to control group, as well as significantly worse all known indices of right ventricle (RV) myocardial function and right chambers overload. Global RV longitudinal strain strongly correlated with RV fractional area change (r = 0.75; p<0.0001), and especially highly with tricuspid annular plane systolic excursion (r = 0.97; p<0.0001) and tricuspid annular peak systolic velocity S’ (r = 0.98; p<0.0001) during tissue Doppler imaging, making it trustworthy and valuable predictor of RV myocardial dysfunction and its potential restoration after defect correction. Patients with ASD much more often had significant moderate-to-severe functional tricuspid regurgitation (92.6% vs. 53.4%, p<0.0001) with significantly higher central venous pressure indices (16.4±2.4 vs. 10.2±2.5, p<0.0001) as per significantly wider inferior vena cava (IVC) (1.89±0.31 vs. 1.43±0.42, p<0.0001) and it’s higher inspiratory collapse. IVC diameter strongly correlated with integral RV filling pressure (that is, right atrial pressure) index E/E’ (r = 0.98; p<0.0001). Also, study group demonstrated significantly more frequent LA appendage thrombosis (40.7% vs. 21.4%, p=0.029) along with much more marked spontaneous contrast phenomenon and lower LA appendage expulsion rate (26.7±5.1 vs. 34.3±7.2, p<0.0001).
 Conclusions. Stratification of patients with ASD complicated by paroxysmal or persistent AF for radiofrequency catheter ablation requires thorough echocardiographic examination with targeted certain indices evaluation aiming at earlier intervention in order to earlier diagnosis and invasive or surgical treatment in this specific patient group, namely LV hypertrophy grade, left chambers dilation with LV global systolic function evaluation, pulmonary hypertension grade as per sPAP and mPAP evaluation, as well as combined right chambers overload grade indices, including RV myocardial function by all methods including speckle-tracking echocardiography.

Використання алгоритму ультразвукової діагностики для прогнозування подальшого розвитку відкритої артеріальної протоки в дітей

Проведено порівняльний аналіз даних обстеження й лікування 158 дітей, які народилися з нормальним терміном гестації. До основної групи ввійшли 77 дітей (ізольована відкрита артеріальна протока мала місце у 42 дітей, поєднана із вторинним дефектом міжпередсердної перегородки – у 35). Групу порівняння становила 81 дитина (із ізольованою відкритою артеріальною протокою – 46 дітей та з відкритою артеріальною протокою в комбінації з вторинним дефектом міжпередсердної перегородки – 35). Доведено, що використання запропонованих діагностичного алгоритму та ультразвукових методик надає можливість визначати гемодинамічну значущість відкритої артеріальної протоки та передбачати її самозакриття в разі ізольованої вади та зневажання невеликим вторинним дефектом міжпередсердної перегородки за його комбінації з гемодинамічно значущою відкритою артеріальною протокою, що дозволило уникнути зайвих оперативних втручань, зокрема з використанням штучного кровообігу.

Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1\u201358 deletion: a case report

BackgroundNeurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1–58 of the NF1 gene on chromosome 17 in a 15-month-old boy.Case presentationA 15-month-old boy was admitted for motor and language developmental delay, numerous café-au-lait spots, hypertelorism, left blepharoptosis, pectus excavatum, cryptorchidism, secondary atrial septal defect, and UBOs (undefined bright objects) revealed by cranial MRI T2FLAIR in basal ganglia and cerebellum. Using whole exome sequencing, we identified a de novo heterozygous deletion including exons 1–58 of the NF1 gene.ConclusionAlthough genetic tests are useful tools for diagnosis of NFNS, NF1, or NS, comprehensive analysis of genetic factors and phenotypes is indispensable in the clinical practice. To the best of our knowledge, this case presents the first Chinese NFNS case due to NF1 defects, and the NF1 exons 1–58 deletion-related phenotype is unlike any other reported case.

Особенности эндоваскулярного закрытия вторичного дефекта межпредсердной перегородки у больных старшего возраста

Aim. Secondary atrial septal defect (ASD II) is one of the most common congenital heart defects. While all the issues of endovascular correction of this disease in children and young patients have been practically resolved, many issues still remain debatable regarding the treatment of adult patients. In the proposed work, the author analyzes the main information’s discussed in the literature concerning this issue, such as the expediency and tactics of treatment of adult patients with ASD II, depending on its anatomical forms, the status of intracardiac and pulmonary-arterial hemodynamics, the presence of concomitant diseases. Materials and methods. The article presents a literature review based on the results of searching of publications in Russian and international bibliographic da-tabases (PubMed, eLIBRARY, Medscape, etc.). Results. Analysis of the literature data in most cases indicates the feasibility and high efficiency of endovascular closure of hemodynamically significant ASD II in elderly patients. The analysis of dynamic observations in the long term after endovascular treatment, reveals a decrease in MPAP as well as the size of the right heart. At the same time, compliance with certain rules makes the intervention quite safe, regardless of the age of patients and, to a certain extent, the severity of symptoms. In the literature, it is particularly emphasized that when determining the management tactics of adult patients with ASD II in order to prevent possible complications, should be objectively evaluated and taken into account such factors that determine their initial state as: the presence of high MPAP, volume overload of the right heart, and vice versa, underloading of the left heart, the conditions of the heart valves, the presence of arterial hypertension, existence of heart rhythm disorders, ischemic heart disease and left ventricle dysfunction. Conclusion. Modern medical literature convincingly proves that with the right selection of patients, transcatheter closure is a safe, highly effective method of correction of ASD II, accompanied by real economic effect and it should be considered a standard in the treatment of middle-aged and elderly patients. At the same time, studies on long-term results show that the positive functional effect does not have age restrictions.

P988 The newly discovered congenital heart disease in grown-up patients: untimely diagnosis or echocardiographic casuistry?

Abstract Purpose of the study. Evaluation of the reasons for the untimely diagnosis of congenital heart disease (CHD) in adults and elderly patients. Material and methods. 30000 people over the age of 25 who underwent transthoracic and transesophageal echocardiography were examined. Results CHD for the first time were revealed in 417 of 30000 patients (1,39%) including 41 of 5346 patients over 60 years of age (0,77%). The most often CHD was atrial septal defect (ASD) – 179 patients, and ventricular septum defect (VSD) was significantly less diagnosed (48 cases). In 98 cases, an aortic valve bicuspidy was identified with hemodynamically significant aortic valve stenosis and / or insufficiency. Coarctation of the aorta was detected in 25 patients, in 16 cases it was combined with a bicuspid aortic valve. The diagnosis of Ebstein"s anomaly (AE) was established in 16 patients, patent ductus arteriosus (PDA) in 15 patients, isolated pulmonary artery stenosis - 12, congenitally corrected transposition of the great arteries (CCTGA) - 6, tetralogy of Fallot - 5, congenital aneurysm of the sinus of Valsalva (CASV) - 5, congenital aneurysm of the ascending part and the arch of the thoracic aorta - 4, Lutembacher syndrome - 2, congenital mitral insufficiency - 2, mesocardia - 2 cases. In patients with CHD over 60, secondary ASD prevailed (28 observations); less frequently were discovered VSD (4), CCTGA (3), CASV (4), PDA (1), AE (1). Conclusion Untimely detection and difficulties in primary diagnosis of CHD in adults and elderly patients can be due to established diagnostic stereotypes, when the results of clinical observation and instrumental examination were interpreted in favor of manifestations of coronary artery disease, arterial hypertension, chronic heart failure, acquired valvular heart disease, cardiomyopathies etc. In addition, overestimation of concomitant age-related structural and functional changes of the heart and improper medical monitoring may be important.

Analysis of the therapeutic effect of transesophageal echocardiography-guided percutaneous device closure of atrial septal defects via the right internal jugular vein in children.

Traditional X-ray-guided transcatheter closure of atrial septal defects (ASDs) via the right femoral vein carries a risk of radiation damage, which is greatly exacerbated by age and vascular conditions. Transesophageal echocardiography (TEE) guidance for the closure procedure not only broadens the indications of interventional therapy for ASDs but also avoids radiation exposure. To assess the value of TEE-guided ASD device closure via the right internal jugular vein (RIJV) in children. Nineteen pediatric patients with secondary ASD underwent TEE-guided ASD device closure via the RIJV from July 22, 2015 to July 19, 2017. After the RIJV was successfully accessed, one Fustar curve-adjustable delivery sheath was inserted. The implant depth was adjusted, and the tip of the sheath was curved to facilitate passage through the ASD for the delivery and release of the occluder. TEE was used to guide the entire procedure. In all 19 patients, the ASDs were successfully closed and the occluder was confirmed to have a stable position and good shape, with no residual shunt. During the follow-up period (2months to 2years), no pericardial effusion, thrombosis, tachyarrhythmia, atrioventricular block, or other complications were observed. An adjustable delivery sheath can be used to treat ASD via the RIJV. This procedure has varied indications, and its advantages include a short operation path, procedural accuracy, minimal trauma, and quick recovery, especially for young patients with large ASDs and cases in which a femoral vein approach is difficult. The procedure has great clinical significance and merits attention.

Identification of Two Novel Mutations from Congenital Heart Defects and Related Cellular Function

ObjectiveCongenital heart defects (CHD) represent the most common congenital anomaly in newborns. The causes of CHD are complex, and are not fully understood. A number of genetic studies have linked gene mutations to cardiac abnormalities. In this study, we found a child who was diagnosed as having a complex including complete endocardial cushion defect, patent ductus arteriosus, secondary atrial septal defect, severe pulmonary hypertension, and polydactyly, we aimed to identify potential pathogenic mutations from this complex.MethodsThe whole blood was collected and genomic DNA was extracted to identify mutations by whole exome sequencing (WES). The CRISPR/Cas9 system was used to generate human pluripotent stem cell with mutations (hPSC‐Mut) separately. As pluripotency markers, Oct4, Nanog, Klf4, SSEA4 were tested in hPSC‐Mut cell, by the methods of Immunofluorescence, Real‐Time PCR, Western Blot. The hPSC‐Mut cell was then inducted and differentiated into cardiomyocytes (CM‐Mut), The differentiation efficiency and contraction of CM‐Mut was detected in 0d, 2d, 4d, 8d, 13d.ResultTwo heterozygous mutations, LTBP2 (c.2206G>A), TCTN3 (c.1268G>A) were identified via WES and analysed by bioinformatics. The hPSC‐LT/TC stable cell line was constructed, inducted and differentiated into CM‐LT/TC. Compare to the wild type, there were no significant differences in cell pluripotency and differentiation efficiency. The cell contraction was observed in the 8th day and lasted to the 13rd day, the contraction of CM‐LT was faster and CM‐LT was slower than wild type cell line.ConclusionTwo heterozygous mutations LTBP2 (c.2206G>A) and CTN3 (c.1268G>A) with alteration of the contraction of CM‐LT/LT cell were found to be pathogenic in complex CHD.Support or Funding InformationNational Natural Science Foundation of China (81870288, 81641017), National Central Grants for Research Institute (2017NL31001), Binhai New Area Health Bureau ( 2016BWKZ 003).This abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.

Simultaneous Percutaneous Coronary Intervention and Endovascular Closure of Atrial Septal Defect in Adults

to assess clinical efficacy and expediency (appropriateness) of simultaneous single stage combined coronary stenting and closure of atrial septal defect. Of total number of patients who underwent endovascular correction of atrial septal defect (ASD) (n=91), in 6 (6.6 %) the procedure of endovascular repair of secondary ASD was combined with performed at same session oronary stenting. Mean age of these patients was 63±6.4 years. Mean diameter of ASD according to transesophageal echocardiography was 13.7±3.1 мм (from 10 to 17 mm). Two patients had dysplasia of atrial septum with pronounced aneurysmal protrusion in the right atrial cavity. Estimate of coronary arteries (CA) involvement SYNTAX score was 14.5±4.9. At initial stage we performed coronary stenting, then ASD closure with occluder. Technical success of combined endovascular procedures was 100 %. Six ASD occluders were implanted in 6 patients. Mean occluder diameter was 21±7,3 mm. Immediately after occluder implantation complete defect closure was achieved in 5 cases, in one case small residual shunt was observed. CA stenting procedure, in one patient after successful recanalization of chronic CA occlusion, in all cases was fulfilled without complications. At control examination after 13.5±1.5 months complete closure of defects was preserved. In all cases significant reduction of right heart chambers occurred. According to echocardiography right atrial volume decreased from 48.6±5.6 to 32.6±3.3 cm3, right ventricular volume - from 45.2±5.1 to 33.4±3.8 cm3, systolic pulmonary pressure fell from 49.7±8.6 to 32.6±6.9 mm Hg. According to control coronary angiography good effect of endovascular procedures was preserved. Tolerance to exercise rose from 68.5±11.8 до 85.3±12.4 W. Same time CA stenting and endovascular ASD closure appears to be safe and effective procedure. The strategy used was not associated with additive risk for a patient and shortened duration of hospital stay.

Analysis of cardiovascular misinterpretations of prenatal ultrasound diagnosis in fetuses with heterotaxia syndrome

Objective To explore the correlation between the cardiovascular ultrasound results and pathological findings of heterotaxia syndrome, analyze the cause of the difference, and improve the prenatal cardiovascular diagnostic accuracy of heterotaxia syndrome by ultrasound. Methods According to fetal autopsy or vessel casting, the ultrasound results of 37 fetuses with heterotaxia syndrome were retrospectively analyzed. The cardiovascular misinterpretations of ultrasound were summarized in the venous-atrial segment, atrial-ventricular segment and ventricular-arterial segment. Results ①Thirty fetuses underwent autopsy and seven fetuses vessel casting were included, there were 10 fetuses with left atrial isomerism and 27 fetuses with right atrial isomerism.Only one left isomerism was misdiagnosed and the diagnostic accuracy of atrial isomerism by ultrasound was 97.3%. ②Thirty-seven fetuses with heterotaxia syndrome included 206 cardiovascular malformations. Twenty-seven misinterpretations of ultrasound were found and the rate of cardiovascular misinterpretations was 13.1%. ③The cardiovascular misinterpretations of left atrial isomerism involved 1 secondary atrial septal defect in the atrial-ventricular segment and 1 aortic atresia, 2 anomalous position of arterial duct in the ventricular-arterial segment. ④The cardiovascular misinterpretations of right atrial isomerism in the venous-atrial segment included 4 common pulmonary vein atresia, 3 anomalous hepatic venous connection, 3 total abnormal pulmonary venous drainage, 2 persistent left superior vena cava and 2 abnormal inferior cava venous drainage. The cardiovascular misinterpretations of right atrial isomerism in the atrial-ventricular segment contained 2 secondary atrial septal defect, 1 unroofed coronary sinus and 1 partial atrioventricular septal defect. The cardiovascular misinterpretations of right atrial isomerism in the ventricular-arterial segment involved 3 double-outlet right ventricle, 1 truncus arteriosus and 1 anomalous position of arterial duct. Conclusions The correspondence between ultrasound results and pathological findings about cardiovascular malformations of heterotaxia syndrome is high. The most common cardiovascular misinterpretations of left atrial isomerism involve the ventricular-arterial segment. And the most common cardiovascular misinterpretations of right atrial isomerism involve the venous-atrial segment. Key words: Ultrasonography, prenatal; Heart defects, conginatal; Heterotaxia syndrome

Продольная механика и функция левого предсердия у детей раннего возраста после транскатетерной коррекции вторичного дефекта межпредсердной перегородки

Продольная механика и функция левого предсердия у детей раннего возраста после транскатетерной коррекции вторичного дефекта межпредсердной перегородки