Recent Development of Biodegradable Occlusion Devices for Intra-Atrial Shunts.

Atrial septal defect (ASD) is the third most common type of structural congenital heart defect. Patent foramen ovale (PFO) is an anatomical anomaly in up to 25% of the general population. With the innovation of occlusion devices and improvement of transcatheter techniques, percutaneous closure has become a first-line therapeutic alternative for treatment of ASD and PFO. During the past few decades, the development of biodegradable occlusion devices has become a promising direction for transcatheter closure of ASD/PFO due to their biodegradability and improved biocompatibility. The purpose of this review is to comprehensively summarize biodegradable ASD/PFO occlusion devices, regarding device design, materials, biodegradability, and evaluation of animal or clinical experiments (if available). The current challenges and the research direction for the development of biodegradable occluders for congenital heart defects are also discussed.

Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children.

BACKGROUND: Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome are common types of genetic syndromes (GSs) characterized by distinct facial features, pulmonary stenosis, and delayed growth. In clinical practice, differentiating these three GSs remains a challenge. Facial gestalts serve as a diagnostic tool for recognizing Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome. Pretrained foundation models (PFMs) can be considered the foundation for small-scale tasks. By pretraining with a foundation model, we propose facial recognition models for identifying these syndromes. METHODS: A total of 3297 (n = 1666) facial photos were obtained from children diagnosed with Williams-Beuren syndrome (n = 174), Noonan syndrome (n = 235), and Alagille syndrome (n = 51), and from children without GSs (n = 1206). The photos were randomly divided into five subsets, with each syndrome and non-GS equally and randomly distributed in each subset. The proportion of the training set and the test set was 4:1. The ResNet-100 architecture was employed as the backbone model. By pretraining with a foundation model, we constructed two face recognition models: one utilizing the ArcFace loss function, and the other employing the CosFace loss function. Additionally, we developed two models using the same architecture and loss function but without pretraining. The accuracy, precision, recall, and F1 score of each model were evaluated. Finally, we compared the performance of the facial recognition models to that of five pediatricians. RESULTS: Among the four models, ResNet-100 with a PFM and CosFace loss function achieved the best accuracy (84.8%). Of the same loss function, the performance of the PFMs significantly improved (from 78.5% to 84.5% for the ArcFace loss function, and from 79.8% to 84.8% for the CosFace loss function). With and without the PFM, the performance of the CosFace loss function models was similar to that of the ArcFace loss function models (79.8% vs 78.5% without PFM; 84.8% vs 84.5% with PFM). Among the five pediatricians, the highest accuracy (0.700) was achieved by the senior-most pediatrician with genetics training. The accuracy and F1 scores of the pediatricians were generally lower than those of the models. CONCLUSIONS: A facial recognition-based model has the potential to improve the identification of three common GSs with pulmonary stenosis. PFMs might be valuable for building screening models for facial recognition. Key messages What is already known on this topic:  Early identification of genetic syndromes (GSs) is crucial for the management and prognosis of children with pulmonary stenosis (PS). Facial phenotyping with convolutional neural networks (CNNs) often requires large-scale training data, limiting its usefulness for GSs. What this study adds:  We successfully built multi-classification models based on face recognition using a CNN to accurately identify three common PS-associated GSs. ResNet-100 with a pretrained foundation model (PFM) and CosFace loss function achieved the best accuracy (84.8%). Pretrained with the foundation model, the performance of the models significantly improved, although the impact of the type of loss function appeared to be minimal. How this study might affect research, practice, or policy:  A facial recognition-based model has the potential to improve the identification of GSs in children with PS. The PFM might be valuable for building identification models for facial detection.

Optimization and evaluation of facial recognition models for Williams-Beuren syndrome.

Williams-Beuren syndrome (WBS) is a rare genetic disorder characterized by special facial gestalt, delayed development, and supravalvular aortic stenosis or/and stenosis of the branches of the pulmonary artery. We aim to develop and optimize accurate models of facial recognition to assist in the diagnosis of WBS, and to evaluate their effectiveness by using both five-fold cross-validation and an external test set. We used a total of 954 images from 135 patients with WBS, 124 patients suffering from other genetic disorders, and 183 healthy children. The training set comprised 852 images of 104 WBS cases, 91 cases of other genetic disorders, and 145 healthy children from September 2017 to December 2021 at the Guangdong Provincial People's Hospital. We constructed six binary classification models of facial recognition for WBS by using EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN. Transfer learning was used to pre-train the models, and each model was modified with a variable cosine learning rate. Each model was first evaluated by using five-fold cross-validation and then assessed on the external test set. The latter contained 102 images of 31 children suffering from WBS, 33 children with other genetic disorders, and 38 healthy children. To compare the capabilities of these models of recognition with those of human experts in terms of identifying cases of WBS, we recruited two pediatricians, a pediatric cardiologist, and a pediatric geneticist to identify the WBS patients based solely on their facial images. We constructed six models of facial recognition for diagnosing WBS using EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN. The model based on VGG-19BN achieved the best performance in terms of five-fold cross-validation, with an accuracy of 93.74% ± 3.18%, precision of 94.93% ± 4.53%, specificity of 96.10% ± 4.30%, and F1 score of 91.65% ± 4.28%, while the VGG-16BN model achieved the highest recall value of 91.63% ± 5.96%. The VGG-19BN model also achieved the best performance on the external test set, with an accuracy of 95.10%, precision of 100%, recall of 83.87%, specificity of 93.42%, and F1 score of 91.23%. The best performance by human experts on the external test set yielded values of accuracy, precision, recall, specificity, and F1 scores of 77.45%, 60.53%, 77.42%, 83.10%, and 66.67%, respectively. The F1 score of each human expert was lower than those of the EfficientNet-b3 (84.21%), ResNet-50 (74.51%), VGG-16 (85.71%), VGG-16BN (85.71%), VGG-19 (83.02%), and VGG-19BN (91.23%) models. CONCLUSION: The results showed that facial recognition technology can be used to accurately diagnose patients with WBS. Facial recognition models based on VGG-19BN can play a crucial role in its clinical diagnosis. Their performance can be improved by expanding the size of the training dataset, optimizing the CNN architectures applied, and modifying them with a variable cosine learning rate. WHAT IS KNOWN: • The facial gestalt of WBS, often described as "elfin," includes a broad forehead, periorbital puffiness, a flat nasal bridge, full cheeks, and a small chin. • Recent studies have demonstrated the potential of deep convolutional neural networks for facial recognition as a diagnostic tool for WBS. WHAT IS NEW: • This study develops six models of facial recognition, EfficientNet-b3, ResNet-50, VGG-16, VGG-16BN, VGG-19, and VGG-19BN, to improve WBS diagnosis. • The VGG-19BN model achieved the best performance, with an accuracy of 95.10% and specificity of 93.42%. The facial recognition model based on VGG-19BN can play a crucial role in the clinical diagnosis of WBS.

Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome.

BACKGROUND: Noonan syndrome (NS) is a rare genetic disease, and patients who suffer from it exhibit a facial morphology that is characterized by a high forehead, hypertelorism, ptosis, inner epicanthal folds, down-slanting palpebral fissures, a highly arched palate, a round nasal tip, and posteriorly rotated ears. Facial analysis technology has recently been applied to identify many genetic syndromes (GSs). However, few studies have investigated the identification of NS based on the facial features of the subjects. OBJECTIVES: This study develops advanced models to enhance the accuracy of diagnosis of NS. METHODS: A total of 1,892 people were enrolled in this study, including 233 patients with NS, 863 patients with other GSs, and 796 healthy children. We took one to 10 frontal photos of each subject to build a dataset, and then applied the multi-task convolutional neural network (MTCNN) for data pre-processing to generate standardized outputs with five crucial facial landmarks. The ImageNet dataset was used to pre-train the network so that it could capture generalizable features and minimize data wastage. We subsequently constructed seven models for facial identification based on the VGG16, VGG19, VGG16-BN, VGG19-BN, ResNet50, MobileNet-V2, and squeeze-and-excitation network (SENet) architectures. The identification performance of seven models was evaluated and compared with that of six physicians. RESULTS: All models exhibited a high accuracy, precision, and specificity in recognizing NS patients. The VGG19-BN model delivered the best overall performance, with an accuracy of 93.76%, precision of 91.40%, specificity of 98.73%, and F1 score of 78.34%. The VGG16-BN model achieved the highest AUC value of 0.9787, while all models based on VGG architectures were superior to the others on the whole. The highest scores of six physicians in terms of accuracy, precision, specificity, and the F1 score were 74.00%, 75.00%, 88.33%, and 61.76%, respectively. The performance of each model of facial recognition was superior to that of the best physician on all metrics. CONCLUSION: Models of computer-assisted facial recognition can improve the rate of diagnosis of NS. The models based on VGG19-BN and VGG16-BN can play an important role in diagnosing NS in clinical practice.

Discrepancy between arterial oxygen saturation and pulse oximetry measurement in a Chinese pediatric patient cohort.

Background: Increasing evidence suggest a racial bias in pulse oximetry measurement, but this was under investigated in Asian pediatric populations. Methods: Via the Pediatric Intensive Care database, this retrospective study included pediatric patient records of arterial oxygen saturation (SaO2) and oxygen saturation on pulse oximetry (SpO2) measured within 10 min. Discrepancy was examined, and potential predictors of occult hypoxemia (defined as SaO2 <88% with the paired SpO2 ≥92%) as well as its association with outcomes were explored by logistic regression. Results: A total of 390 patients were included with 454 pairs of SaO2-SpO2 readings. The study population consisted of Han Chinese (99.0%) and 43.6% were female. Occult hypoxemia was observed in 20.0% of the patients, with a mean SaO2 of 71.4 ± 15.8%. Potential predictors of occult hypoxemia included female, being first admitted to cardiac ICU, congenital heart disease, increased heart rate, while patients with prior surgery records were less likely to experience occult hypoxemia. Patients with occult hypoxemia had numerically higher in-ICU mortality (16.7% versus 10.9%) and in-hospital mortality (17.9% versus 10.9%), but the associations were not statistically significant. Conclusions: There was a substantial proportion of hypoxemia that was not detected by pulse oximetry in the Chinese pediatric patients, which might be predicted by several characteristics and seemed to associate with mortality.

Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China.

Background: Noonan syndrome (NS) is relatively common but poorly recognized. We aimed to describe the phenotypic and genotypic spectrum of NS in a Chinese cohort. Method: The study retrospectively investigated consecutive pediatric patients who presented at the Guangdong cardiovascular institute between 2018 and 2020 with confirmed known NS-relevant mutations determined by exome sequencing. Dates of genetic testing, Age, sex, institution of genetic testing, mutated gene (related to NS) and its classification, heterozygosity, and parental origin were identified from the sequencing reports. Facial features, cardiac defect and other clinical characteristics were also assessed. Comparisons of categorical variables between groups were examined by Chi-square test or Fisher's exact test when appropriate. Intraclass correlation coefficient (ICC) was performed to evaluate the reliability of evaluation of facial features between different evaluators. Results: The most prevalent mutated genes were PTPN11 (37.0%) and RAF1 (19.6%), and most mutations were pathogenic (67.4%) and de novo (87.0%). Most patients were with NS-relevant facial features (97.4%) and cardiac defects (92.7%), where ventricular hypertrophy, pulmonary valve stenosis, and atrial septal defect were the most prevalent. Patients with mutated RAF1 appeared to be diagnosed at an older age than those with mutated PTPN11, and with higher prevalence of mitral regurgitation, hypertrophic cardiomyopathy, and ventricular hypertrophy, but lower prevalence of pulmonary valve stenosis and pulmonary artery stenosis. Patients presented at an age ≥2 years appeared to be with fewer NS-relevant facial features and cardiac defects than those aged <2 years. Conclusions: These findings indicated featured distributions of phenotypic and genotypic spectrum in Chinese pediatric patients, which might be helpful for early NS diagnosis.

Optical coherence tomography of the pulmonary arteries in children with congenital heart diseases: A systematic review.

Importance: Optical coherence tomography (OCT) is a high-resolution intravascular imaging tool and has shown promise for providing real-time quantitative and qualitative descriptions of pulmonary vascular structures in vivo in adult pulmonary hypertension (PH), while not popular in pediatric patients with congenital heart diseases (CHD). Objective: The aim of this review is to summarize all the available evidence on the use of OCT for imaging pulmonary vascular remodeling in pediatric patients. Methods: We conducted the systematic literature resources (Cochran Library database, Medline via PubMed, EMBASE, and Web of Knowledge) from January 2010 to December 2021 and the search terms were "PH", "child", "children", "pediatric", "OCT", "CHD", "pulmonary vessels", "pulmonary artery wall". Studies in which OCT was used to image the pulmonary vessels in pediatric patients with CHD were considered for inclusion. Results: Five studies met the inclusion criteria. These five papers discussed the study of OCT in the pulmonary vasculature of different types of CHD, including common simple CHD, complex cyanotic CHD, and Williams-Beuren syndrome. In biventricular anatomy, pulmonary vascular remodeling was primarily reflected by pulmonary intima thickening from two-dimensional OCT. In single-ventricle anatomy, due to the state of hypoxia, the morphology of pulmonary vessels was indirectly reflected by the number and shape of nourishing vessels from three-dimensional OCT. Interpretation: OCT may be an adequate imaging procedure for the demonstration of pulmonary vascular structures and provide additional information in pediatric patients.

Incidence, Clinical Features, and Association with Prognosis of Bloodstream Infection in Pediatric Patients After Percutaneous or Surgical Treatment for Ventricular Septal Defect or Atrial Septal Defect: A Retrospective Cohort Study.

INTRODUCTION: Bloodstream infection (BSI) may occur after cardiac procedures, but this has rarely been investigated specifically in pediatric patients after percutaneous or surgical treatment for ventricular septal defect (VSD) or atrial septal defect (ASD) with recent data. The current study aimed to investigate the incidence, clinical features, and association with prognosis of BSI in this patient population. METHODS: Pediatric patients who received percutaneous or surgical procedure for VSD or ASD between 2010 and 2018 in a large children's hospital in China were retrospectively enrolled via the Pediatric Intensive Care database, but only those who had blood culture records within 24 h after the procedure and who had no prior positive blood culture records were included. BSI after the procedure was identified by reviewing blood culture records, and baseline characteristics associated with BSI were explored by univariable logistic regression. In-hospital mortality and length of hospitalization were studied as prognostic outcomes and compared between patients with and without BSI. RESULTS: A total of 1340 pediatric patients were included. Among them, 46 (3.43%) patients had BSI within 24 h after the procedure, of which the majority (78.26%, 36/46) were caused by Gram-positive bacteria and 65.22% (30/46) had antibiotic-resistant organisms. Age [odds ratio (OR) 0.98 per 1-month increase, 95% confidence interval (CI) 0.97-1.00, P = 0.021] and antibiotic use within 72 h before the procedure (OR 1.81, 95% CI 1.00-3.26, P = 0.049) were statistically significantly associated with developing BSI. Compared with patients without BSI, there was no statistically significant difference in in-hospital mortality (0.00% versus 0.54%, P = 1.000), but patients with BSI had statistically significantly longer length of hospitalization (median 14.51 versus 12.94 days, P = 0.006), while the association was not statistically significant after adjustment for baseline characteristics by multivariable linear regression (ß = 1.73, 95% CI -0.59 to 4.04, P = 0.144). CONCLUSION: BSI is relatively uncommon in pediatric patients after procedures for VSD or ASD, but a younger age seems a risk factor. Developing BSI appears to be associated with increased length of hospitalization but not in-hospital mortality.

Initial status and 3-month results relating to the use of biodegradable nitride iron stents in children and the evaluation of right ventricular function.

Background: Pulmonary artery stenosis is often associated with congenital heart disease. The aim of the study was to evaluate the efficacy and safety of stenting for branch pulmonary artery stenosis using a biodegradable nitride iron stent (IBS® Angel™) and right ventricular systolic and diastolic function. Methods: From July 2021 to February 2022, a total of 11 cases (ages ranged from 36 to 86 months old) were included in this pre and post-intervention, prospective, cohort and preclinical study. All cases underwent transthoracic echocardiographic (TTE), chest radiography, along with computed tomography (256-slice scanner, multiple-detector) and right heart catheterization. Different types of biodegradable nitride iron stents were implanted. TTE was performed serially 1 day, 1 month and 3 months after the procedure to evaluate the rate of restenosis and right ventricular function. Results: Stenting was successful in 11 patients. There were no major adverse cardiovascular events related to the device or to the procedure. Blood perfusion in the branch pulmonary artery was improved immediately. At follow-up, there was no significant restenosis that required re-intervention. None of the patients suffered from in-stent thrombosis, vascular embolism, stent displacement or heart failure. Compared with normal values, there were statistical with regards to FAC, E/A and E'/A'. Furthermore, we found that TAPSE correlated significantly with pulsed Doppler S wave (p = 0.008) and left ventricular ejection fraction (p < 0.01). The early trans-tricuspid inflow velocities E/E' (tissue doppler at the lateral tricuspid annulus) correlated significantly with E'/A' (p = 0.009). FAC and E'/A' were statistically different from those prior to stenting (p = 0.041 and p = 0.035) when tested one month postoperatively. At three months postoperatively, only E/A showed a statistical difference (p = 0.015). Conclusion: Our analysis suggests that biodegradable nitride iron stents are feasible, safe, and effective in children. Some small improvements were observed in right ventricular systolic and diastolic function after successful transcatheter intervention, although change was not statistically significant due to the small sample number. (A clinical Trial to Evaluate the Safety and Efficacy of IBS Angel in Patients With Pulmonary Artery Stenosis (IRIS); NCT04973540).

Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.

Background: Common cardiac abnormalities in Noonan syndrome (NS) include congenital heart diseases (CHD), pulmonary valve stenosis and hypertrophic cardiomyopathy (HCM). Molecular diagnoses are enabling earlier and more precise diagnosis of patients who have a subtle or atypical presentation. The aims of this study were to investigate genotype-phenotype associations with respect to Noonan syndrome (NS)-associated cardiac abnormalities and catheter or surgery-based interventions conditions. Methods: From January 2019 to December 2021, 22 children with a confirmed molecular diagnosis of NS combined with cardiovascular abnormalities were consecutively enrolled into the current study. A comprehensive review was carried out of echocardiography and electrocardiogram results, second-generation whole-exome sequencing results and catheter or surgery-based interventions conditions. Results: The main manifestations of electrocardiogram abnormalities were QTc prolongation, abnormal Q wave in the precordial lead and limb lead, right ventricular hypertrophy and left or right deviation of the electrical axis. The most commonly detected abnormality was pulmonary valve dysplasia with stenosis, seen in 15 (68.2%) patients, followed by atrial septal defect in 11 (50%) patients. Seven genes (RAF1, RIT1, SOS1, PTPN11, BRAF, SOS2, and LZTR1) were found to contain disease-associated variants. The most commonly observed genetic mutations were PTPN11 (27%) and RAF1 (27%). Each genotype was associated with specific phenotypic findings. RIT1, SOS1, PTPN11, and SOS2 had common echocardiography features characterized by pulmonary valve stenosis, while RAF1 was characterized by HCM. Interestingly, patients with BRAF mutations were not only characterized by HCM, but also by pulmonary valve stenosis. In the cohort there was only one patient carrying a LZTR1 mutation characterized by left ventricle globose dilation. Ten cases underwent catheter or surgery-based interventions. All the operations had immediate results and high success rates. However, some of the cases had adverse outcomes during extended follow-up. Based on the genotype-phenotype associations observed during follow-up, BRAF and RAF1 genotypes seem to be poor prognostic factors, and multiple interventions may be required for NS patients with severe pulmonary stenosis or myectomy for HCM. Conclusions: The identification of causal genes in NS patients has enabled the evaluation of genotype-cardiac phenotype relationships and prognosis of the disease. This may be beneficial for the development of therapeutic approaches.

Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Background: Few data on paediatric hypertrophic cardiomyopathy (HCM) are available in developing countries. A multicentre, retrospective, cohort study was conducted to profile the clinical characteristics and survival of children with HCM in China. Methods: We collected longitudinal data on children with HCM aged 0-18 years at three participating institutions between January 1, 2010 and December 31, 2019. Patients were identified by searching for the diagnosis using ICD-10 codes from the electronic medical records database. HCM was diagnosed morphologically with echocardiography or cardiovascular magnetic resonance imaging. The exclusion criteria were secondary aetiologies of myocardial hypertrophy. The primary outcomes were all-cause death or heart transplantation. The Kaplan-Meier method was used to estimate the survival rate of different groups. Findings: A total of 564 children were recruited, with a median age at diagnosis of 1.0 year (interquartile range, IQR: 0.4-8.0 years), followed for a median of 2.6 years (1977 patient-years, IQR:0.5, 5.9 years). The underlying aetiology was sarcomeric (382, 67.7%), inborn errors of metabolism (IEMs) (108, 19.2%), and RASopathies (74, 13.1%). A total of 149 patients (26.4%) died and no patients underwent heart transplantation during follow-up. The survival probability was 71.1% (95% confidence interval [CI], 66.3%-75.3%) at 5 years. Patients with IEMs or those diagnosed during infancy had the poorest outcomes, with an estimated 5-year survival rate of 16.9% (95% CI, 7.7%-29.1%) and 56.0% (95% CI, 48.8%-62.5%), respectively. Heart failure was the leading cause of death in the cohort (90/149, 60.4%), while sudden cardiac death was the leading cause in patients with sarcomeric HCM (32/66, 48.5%). Interpretation: There is a high proportion of patients with IEM and a low proportion of patients with neuromuscular disease in children with HCM in China. Overall, mortality remains high in China, especially in patients with IEMs and those diagnosed during infancy. Funding: National Natural Science Fund of China (81770380, 81974029), China Project of Shanghai Municipal Science and Technology Commission (20MC1920400, 21Y31900301).

Association between cumulative blood pressure in early adulthood and right ventricular structure and function in middle age: The CARDIA study.

OBJECTIVE: Cumulative blood pressure (BP) exposure is a known risk factor for cardiovascular disease. This study sought to investigate the association between cumulative BP from early adulthood to middle age and right ventricular (RV) structure and function in middle age. METHODS: We included 2844 participants from the CARDIA study (Coronary Artery Risk Development in Young Adults). Cumulative BP over the 30-years follow-up was defined as the sum of the product of mean BP for each pair of consecutive examinations and the time interval between these two consecutive examinations in years. RV structure and function were assessed by echocardiography. The main analyses utilized logistic and linear regression models. RESULTS: In fully adjusted models, higher cumulative systolic BP was independently associated with lower tricuspid annular plane systolic excursion (TAPSE), right ventricular peak systolic velocity (RVS'), right ventricular early diastolic velocity (RVe'), and higher pulmonary arterial systolic pressure. Higher cumulative diastolic BP was independently associated with smaller RV basal diameter, lower TAPSE, RVS', and RVe'. For categorical analyses of RV dysfunction, cumulative systolic BP was not related to systolic dysfunction. Per 1-SD increase in cumulative systolic BP was associated with a higher risk of diastolic dysfunction, while an increase in cumulative diastolic BP was associated with a higher risk of systolic dysfunction and diastolic dysfunction. CONCLUSIONS: Cumulative exposure to increased BP from early adulthood to middle age was associated with incipient RV systolic and diastolic dysfunction in middle age. Exposure to higher diastolic BP levels from early adulthood to middle age was associated with a smaller RV basal diameter in middle age.

Blood cyst of the pulmonary valve causing right ventricular outflow tract obstruction: A case report.

Blood cysts are rare cardiac tumors, often involve the atrioventricular valves. Blood cysts are usually small and tend to be clinically silent. Here, we report a case of blood cyst adhered to the junction of the pulmonary valve and the right ventricular outflow, causing severe outflow obstruction. This case was initially misdiagnosed as pulmonary valve stenosis by transthoracic echocardiography (TTE) and even underwent percutaneous balloon pulmonary valvuloplasty (PBPV). As the right ventricle-to-pulmonary artery peak gradient did not decrease after PBPV procedure, the boy underwent TTE again and the diagnosis was corrected as blood cyst. The cystic mass was successfully resected subsequently, and the boy recovered well.

Transcatheter Closure of Perimembranous and Intracristal Ventricular Septal Defects Using Amplatzer Duct Occluder II in Children.

BACKGROUND: Transcatheter closure of aneurysmal perimembranous ventricular septal defect (pmVSD), pmVSD near the aortic valve, and intracristal VSD (icVSD) with symmetrical or asymmetrical ventricular septal defect occluders still presents significant challenges. We report our experience with transcatheter closure of pmVSD and icVSD using Amplatzer duct occluder II (ADO II) in children. METHOD: We retrospectively analyzed all children, who presented to our hospital consecutively between March 2014 and June 2020 for attempted transcatheter closure of pmVSD or icVSD with the ADO II device. Standard safety and last-follow-up outcomes were assessed and compared. RESULTS: In total, 41 patients underwent transcatheter closure of VSD with the ADO II (28 in pmVSD and 13 in icVSD groups) with a median age of 3.5 years (total range: 0.9 to 12 years) and median weight of 15.0 kg (total range: 10.0 to 43.0 kg). Implantation was successful in 40/41 patients (97.5%, 27/28 in pmVSD group, 13/13 in icVSD group). One patient with mild aortic valve prolapse in pmVSD group developed new-onset moderate aortic regurgitation after a 4/4 mm ADO II was deployed; however, this resolved after the device was retrieved and successfully replaced with a 5 mm zero eccentric VSD occluder. There was no procedure-related mortality. After a median follow-up of six months (total range: 6 to 72 months), complete closure rates were 85.1% and 76.9% among pmVSD and icVSD groups, respectively. In the pmVSD group, one case of new-onset moderate tricuspid regurgitation was observed at six months, and there was one case of severe tricuspid regurgitation that had progressed from mild tricuspid regurgitation at 12 months. No serious complications were noted in the icVSD group. CONCLUSION: ADO II provides a safe and reproducible alternative for the closure of perimembranous and intracristal ventricular septal defects with a diameter less than 5 mm in young children.

Initial Clinical Experience with the Biodegradable AbsnowTM Device for Percutaneous Closure of Atrial Septal Defect: A 3-Year Follow-Up.

OBJECTIVE: We reported the 3-year follow-up results of initial clinical experience with the AbsnowTM device, a novel biodegradable occluder for percutaneous closure of atrial septal defect (ASD). BACKGROUND: The AbsnowTM device is a total biodegradable septal occluder with double-disc poly-L-lactic acid (PLLA) framework and PLLA membranes intergraded into the device to ensure its biodegradability, clinical safety, and efficacy. METHODS: Five pediatric patients were enrolled from May to June 2018 in our institution and were followed up for 3 years. A clinical evaluation and transthoracic echocardiography were performed at 24 hr, 1 month, 3 months, 6 months, 12 months, and yearly after implantation. Primary endpoints were a composite clinical success, comprising of clinical closure success and safety at the 36-month follow-up evaluation. Secondary endpoints included technical success, procedure success, closure success, and safety at each of the follow-up visits. RESULTS: The median subject age was 3.6 years (range 3.1-6.5 years). The mean ASD diameter was (13.7 ± 2.9) mm. The median device size was 20 mm (range 14 to 24 mm). Technical and procedure success was achieved in 100% (5/5) of the patients. At 2-year follow-up, 3 of the 5 patients developed new-onset residual shunts and 2 of them reached a moderate degree. At 3-year follow-up, the residual shunt size increased over time in all the 3 patients, and 1 of them had right ventricular enlargement. All of the 5 patients were free from serious adverse events during the 3-year follow-up, with no device embolization, thromboembolization, or reintervention to the target defect. CONCLUSION: This 3-year follow-up result of initial experience with the biodegradable AbsnowTM device has demonstrated acceptable safety with no procedural complications. Notably, the high rate of residual shunt significantly affected its efficacy. The long-term safety and efficacy of the device should be further evaluated in a large cohort of patients in future studies.

Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation.

BACKGROUND: Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. Facial recognition technology has advanced in recent years, and the screening of GSs by facial recognition technology has become feasible. This study constructed an automatic facial recognition model for the identification of children with GSs. RESULTS: A total of 456 frontal facial photos were collected from 228 children with GSs and 228 healthy children in Guangdong Provincial People's Hospital from Jun 2016 to Jan 2021. Only one frontal facial image was selected for each participant. The VGG-16 network (named after its proposal lab, Visual Geometry Group from Oxford University) was pretrained by transfer learning methods, and a facial recognition model based on the VGG-16 architecture was constructed. The performance of the VGG-16 model was evaluated by five-fold cross-validation. Comparison of VGG-16 model to five physicians were also performed. The VGG-16 model achieved the highest accuracy of 0.8860 ± 0.0211, specificity of 0.9124 ± 0.0308, recall of 0.8597 ± 0.0190, F1-score of 0.8829 ± 0.0215 and an area under the receiver operating characteristic curve of 0.9443 ± 0.0276 (95% confidence interval: 0.9210-0.9620) for GS screening, which was significantly higher than that achieved by human experts. CONCLUSIONS: This study highlighted the feasibility of facial recognition technology for GSs identification. The VGG-16 recognition model can play a prominent role in GSs screening in clinical practice.

Automated Facial Recognition for Noonan Syndrome Using Novel Deep Convolutional Neural Network With Additive Angular Margin Loss.

BACKGROUND: Noonan syndrome (NS), a genetically heterogeneous disorder, presents with hypertelorism, ptosis, dysplastic pulmonary valve stenosis, hypertrophic cardiomyopathy, and small stature. Early detection and assessment of NS are crucial to formulating an individualized treatment protocol. However, the diagnostic rate of pediatricians and pediatric cardiologists is limited. To overcome this challenge, we propose an automated facial recognition model to identify NS using a novel deep convolutional neural network (DCNN) with a loss function called additive angular margin loss (ArcFace). METHODS: The proposed automated facial recognition models were trained on dataset that included 127 NS patients, 163 healthy children, and 130 children with several other dysmorphic syndromes. The photo dataset contained only one frontal face image from each participant. A novel DCNN framework with ArcFace loss function (DCNN-Arcface model) was constructed. Two traditional machine learning models and a DCNN model with cross-entropy loss function (DCNN-CE model) were also constructed. Transfer learning and data augmentation were applied in the training process. The identification performance of facial recognition models was assessed by five-fold cross-validation. Comparison of the DCNN-Arcface model to two traditional machine learning models, the DCNN-CE model, and six physicians were performed. RESULTS: At distinguishing NS patients from healthy children, the DCNN-Arcface model achieved an accuracy of 0.9201 ± 0.0138 and an area under the receiver operator characteristic curve (AUC) of 0.9797 ± 0.0055. At distinguishing NS patients from children with several other genetic syndromes, it achieved an accuracy of 0.8171 ± 0.0074 and an AUC of 0.9274 ± 0.0062. In both cases, the DCNN-Arcface model outperformed the two traditional machine learning models, the DCNN-CE model, and six physicians. CONCLUSION: This study shows that the proposed DCNN-Arcface model is a promising way to screen NS patients and can improve the NS diagnosis rate.

Automatic Facial Recognition of Williams-Beuren Syndrome Based on Deep Convolutional Neural Networks.

Background: Williams-Beuren syndrome (WBS) is a rare genetic syndrome with a characteristic "elfin" facial gestalt. The "elfin" facial characteristics include a broad forehead, periorbital puffiness, flat nasal bridge, short upturned nose, wide mouth, thick lips, and pointed chin. Recently, deep convolutional neural networks (CNNs) have been successfully applied to facial recognition for diagnosing genetic syndromes. However, there is little research on WBS facial recognition using deep CNNs. Objective: The purpose of this study was to construct an automatic facial recognition model for WBS diagnosis based on deep CNNs. Methods: The study enrolled 104 WBS children, 91 cases with other genetic syndromes, and 145 healthy children. The photo dataset used only one frontal facial photo from each participant. Five face recognition frameworks for WBS were constructed by adopting the VGG-16, VGG-19, ResNet-18, ResNet-34, and MobileNet-V2 architectures, respectively. ImageNet transfer learning was used to avoid over-fitting. The classification performance of the facial recognition models was assessed by five-fold cross validation, and comparison with human experts was performed. Results: The five face recognition frameworks for WBS were constructed. The VGG-19 model achieved the best performance. The accuracy, precision, recall, F1 score, and area under curve (AUC) of the VGG-19 model were 92.7 ± 1.3%, 94.0 ± 5.6%, 81.7 ± 3.6%, 87.2 ± 2.0%, and 89.6 ± 1.3%, respectively. The highest accuracy, precision, recall, F1 score, and AUC of human experts were 82.1, 65.9, 85.6, 74.5, and 83.0%, respectively. The AUCs of each human expert were inferior to the AUCs of the VGG-16 (88.6 ± 3.5%), VGG-19 (89.6 ± 1.3%), ResNet-18 (83.6 ± 8.2%), and ResNet-34 (86.3 ± 4.9%) models. Conclusions: This study highlighted the possibility of using deep CNNs for diagnosing WBS in clinical practice. The facial recognition framework based on VGG-19 could play a prominent role in WBS diagnosis. Transfer learning technology can help to construct facial recognition models of genetic syndromes with small-scale datasets.

Biodegradable polymeric occluder for closure of atrial septal defect with interventional treatment of cardiovascular disease.

The next-generation closure device for interventional treatment of congenital heart disease is regarded to be biodegradable, yet the corresponding biomaterial technique is still challenging. Herein, we report the first fully biodegradable atrial septal defect (ASD) occluder finally coming into clinical use, which is made of biodegradable poly(l-lactic acid) (PLLA). We characterized the physico-chemical properties of PLLA fibers as well as the raw polymer and the operability of the as-fabricated occluders. Cell behaviors on material were observed, and in vivo fiber degradation and inflammatory responses were examined. ASD models in piglets were created, and 44 PLLA ASD occluders were implanted via catheter successfully. After 36 months, the PLLA ASD occluders almost degraded without any complications. The mechanical properties and thickness between newborn and normal atrial septum showed no significant difference. We further accomplished the first clinical implantation of the PLLA ASD occluder in a four-year boy, and the two-year follow-up up to date preliminarily indicated safety and feasibility of such new-generation fully biodegradable occluder made of synthetic polymers.