Which neonates should have a pre-operative echocardiography? Findings from a national survey and a retrospective tertiary single-centre analysis in the United Kingdom.

PURPOSE: The detection of congenital heart disease (CHD) before neonatal surgery is crucial for anaesthetic and perioperative management. There are no established criteria for pre-operative echocardiography in neonates. We aimed to survey current practice in the United Kingdom and evaluate the reliability of antenatal screening and postnatal clinical assessment in detecting CHD before surgery. METHOD: A 9-point questionnaire was sent to all paediatric surgical centres in the United Kingdom to assess their practice. Subsequently, a single-centre retrospective review of all neonatal surgery over 5 years (2015-2020) was conducted in our tertiary paediatric/neonatal hospital. Data included pre-operative clinical assessment, performance of chest radiograph and echocardiography. Indications for echocardiography were categorised and assessed using sensitivity, specificity, positive predictive value and negative predictive value. RESULTS: All 26 paediatric surgical centres responded to our survey. 23/26 (88.5%) did not have established criteria or guidelines for pre-operative echocardiography. There was a large variation in which surgical conditions required a pre-operative scan and whether a normal clinical examination was considered sufficient to not require one. For the retrospective review, 454 patients were identified. There were 40 cases with CHDs (8.8%), 13 were classed as major or moderate. Indications for echocardiography were categorised into abnormal foetal cardiac screening, medical/surgical conditions associated with CHD and an abnormal cardiorespiratory examination. Sensitivity, specificity, positive predictive value and negative predictive value for major and moderate CHD were 46%, 99%, 67%, 98% for abnormal foetal screening, 46%, 97%, 35%, 98% for associated medical conditions, 62%, 66%, 6%, 98% for associated surgical conditions, and 100%, 66%, 9%, 100% for abnormal clinical examination. CONCLUSION: The use of pre-operative echocardiography in neonates is not standardised across the UK. The results from our cohort demonstrate that foetal echocardiography is not sufficient to capture all major and moderate CHDs, but the absence of abnormal clinical examination is highly reliable in ruling out them out. Specifying a list of medical/surgical of conditions associated with CHD warranting pre-operative echocardiography may improve yield, but this depends on the availability of resources and expertise.

HVSMR-2.0: A 3D cardiovascular MR dataset for whole-heart segmentation in congenital heart disease.

Patients with congenital heart disease often have cardiac anatomy that deviates significantly from normal, frequently requiring multiple heart surgeries. Image segmentation from a preoperative cardiovascular magnetic resonance (CMR) scan would enable creation of patient-specific 3D surface models of the heart, which have potential to improve surgical planning, enable surgical simulation, and allow automatic computation of quantitative metrics of heart function. However, there is no publicly available CMR dataset for whole-heart segmentation in patients with congenital heart disease. Here, we release the HVSMR-2.0 dataset, comprising 60 CMR scans alongside manual segmentation masks of the 4 cardiac chambers and 4 great vessels. The images showcase a wide range of heart defects and prior surgical interventions. The dataset also includes masks of required and optional extents of the great vessels, enabling fairer comparisons across algorithms. Detailed diagnoses for each subject are also provided. By releasing HVSMR-2.0, we aim to encourage development of robust segmentation algorithms and clinically relevant tools for congenital heart disease.

Review of speckle tracking analysis to measure the size, shape, and contractility of the fetal heart in fetuses with congenital heart defects.

Evaluation of the fetal heart involves two approaches. The first describes a screening protocol in which the heart is imaged in transverse planes that includes the four-chamber view (4CV), left and right outflow tracts, and the 3-vessel-tracheal view. The second approach is a fetal echocardiogram that requires additional cardiac images as well as evaluating ventricular function using diagnostic tools such as M-mode and pulsed Doppler ultrasound. Speckle tracking analysis of the ventricular and atrial endocardium of the fetal heart has focused primarily on computing longitudinal global strain. However, the technology enabling this measurement to occur has recently been adapted to enable the clinician to obtain numerous additional measurements of the size, shape, and contractility of the ventricles and atrial chambers. By using the increased number of measurements derived from speckle tracking analysis, we have reported the ability to screen for tetralogy of Fallot, D-transposition of the great arteries (D-TGA), and coarctation of the aorta by only imaging the 4CV. In addition, we have found that measurements derived from speckle tracking analysis of the ventricular and atrial chambers can be used to compute the risk for emergent neonatal balloon atrial septostomy in fetuses with D-TGA. The purpose of this review is to consolidate our experience in one source to provide perspective on the benefits of speckle tracking analysis to measure the size, shape, and contractility of the ventricles and atria imaged in the 4CV in fetuses with congenital heart defects.

Echocardiographic features and pathological ultrastructural characteristics of fetal interruption of aortic arch. / èƒŽå„¿ä¸»åŠ¨è„‰å¼“ç¦»æ–­çš„è¶ å£°å¿ƒåŠ¨å›¾å’Œç— ç†å­¦è¶ å¾®ç»“æž„ç‰¹å¾.

OBJECTIVES: Interruption of aortic arch (IAA) is a rare congenital heart disease. This study aims to investigate echocardiographic features and pathological ultrastructural characteristics of fetal IAA and to further analyze its pathological evolution. METHODS: A retrospective analysis was conducted on prenatal echocardiographic, post-surgical, or autopsy findings of fetuses prenatally diagnosed with IAA. Prenatal echocardiographic tracking was used to observe the internal diameters and Z-scores of different segments of the aortic arch and the changes in the narrowed section. These observations were combined with autopsy and pathological findings to explore the potential intrauterine evolution of IAA and its cytological basis. RESULTS: The study included 34 fetuses with IAA, with 3, 3, and 28 fetuses prenatally diagnosed with aortic arch dysplasia (AAD), coarctation of aorta (CoA), and IAA, respectively. The 3 AAD and 3 CoA fetuses chose termination of pregnancy 1 to 2 weeks after prenatal ultrasound diagnosis, and autopsy confirmed IAA. Among the 28 fetuses prenatally diagnosed with IAA, 6 cases of CoA progressively worsened, eventually evolving into type A IAA as observed through echocardiographic follow-up. The remaining 22 cases were diagnosed as IAA on the first prenatal ultrasound. Postnatal surgery corrected 3 cases, while 27 cases opted for pregnancy termination, and 4 cases resulted in intrauterine death. Echocardiographic features of the fetal IAA included a significantly smaller left ventricle compared with the right or negligible difference on the four-chamber view, a significantly smaller aorta than the pulmonary artery on the three-vessel view, and a lack of connection between the aorta and the descending aorta on the three-vessel-trachea and aortic arch views. The aortic arch appears less curved and more rigid, losing the normal "V" shape between the aorta, ductus arteriosus, and descending aorta. Color Doppler ultrasound showed no continuous blood flow signal at the interruption site, with reversed blood flow visible in the ductus arteriosus. Transmission electron microscopy of 7 IAA fetuses revealed numerous disorganized smooth muscle cells between the elastic membranes near the aortic arch interruption site, significantly increased in number compared with the proximal ascending aorta. The elastic membranes were thicker and more twisted near the interruption site. The interruption area lacked normal endothelial cells and lumen, with only remnants of necrotic endothelial cells, disorganized short and thick elastic membranes, and randomly arranged smooth muscle cells. CONCLUSIONS: Prenatal echocardiography is the primary diagnostic tool for fetal IAA. Post-surgical follow-up and autopsy help identify complications and disease characteristics, enhancing diagnostic accuracy. Some fetal IAA may evolve from AAD or CoA, with potential pathogenesis related to ischemia, hypoxia, and migration of ductal constrictive components.

Utility of the novel fetal heart quantification (fetal HQ) technique in diagnosing ventricular interdependence and biventricular dysfunction in a case of prenatally diagnosed Uhl's anomaly.

Uhl's anomaly is characterized by complete or partial absence of right ventricular myocardium. We describe a case of prenatally diagnosed Uhl's anomaly with biventricular dysfunction which was quantified with speckle tracking echocardiography using a novel fetal heart quantification (fetal HQ) technique.

Fetal Cardiovascular MR Imaging.

Prenatal diagnosis of congenital heart disease allows for appropriate planning of delivery and an opportunity to inform families about the prognosis of the cardiac malformation. On occasion, prenatal therapies may be offered to improve perinatal outcomes. While ultrasound is the primary diagnostic method, advances have led to interest in fetal MRI for its potential to aid in clinical decision-making. This review explores technical innovations and the clinical utility of fetal cardiovascular magnetic resonance (CMR), highlighting its role in diagnosing and planning interventions for complex heart conditions. Future directions include the prediction of perinatal physiology and guidance of delivery planning.

Echocardiographic assessment for cardiopulmonary function in patients with congenital heart disease-related pulmonary arterial hypertension.

BACKGROUND: For patients with congenital heart disease-related pulmonary arterial hypertension (CHD-PAH), cardiopulmonary exercise testing (CPET) can reflect cardiopulmonary reserve function. However, CPET may not be readily accessible for patients with high-risk conditions or limited mobility due to disability. Echocardiography, on the other hand, serves as a widely available diagnostic tool for all CHD-PAH patients. This study was aimed to identify the parameters of echocardiography that could serve as indicators of cardiopulmonary function and exercise capacity. METHODS: A cohort of 70 patients contributed a total of 110 paired echocardiogram and CPET results to this study, with 1 year interval for repeated examinations. Echocardiography and exercise testing were conducted following standardized procedures, and the data were collected together with clinically relevant indicators for subsequent statistical analysis. Demographic comparisons were performed using t-tests and chi-square tests. Univariate and multivariate analyses were conducted to identify potential predictors of peak oxygen uptake (peak VO2) and the carbon dioxide ventilation equivalent slope (VE/VCO2 slope). Receiver operating characteristic (ROC) analysis was used to assess the performance of the parameters. RESULTS: The ratio of tricuspid annular plane systolic excursion to pulmonary artery systolic pressure (TAPSE/PASP) was found to be the only independent indicator significantly associated with both peak VO2 and VE/VCO2 slope (both p < 0.05). Additionally, left ventricular ejection fraction (LVEF) and right ventricular fractional area change (FAC) were independently correlated with the VE/VCO2 slope (both p < 0.05). TAPSE/PASP showed the highest area under the ROC curve (AUC) for predicting both a peak VO2 ≤ 15 mL/kg/min and a VE/VCO2 slope ≥ 36 (AUC = 0.91, AUC = 0.90, respectively). The sensitivity and specificity of TAPSE/PASP at the optimal threshold exceeded 0.85 for both parameters. CONCLUSIONS: TAPSE/PASP may be a feasible echocardiographic indicator for evaluating exercise tolerance.

Recommendations for cardiovascular magnetic resonance and computed tomography in congenital heart disease: a consensus paper from the CMR/CCT Working Group of the Italian Society of Pediatric Cardiology and the Italian College of Cardiac Radiology endorsed by the Italian Society of Medical and Interventional Radiology (Part II).

Cardiovascular magnetic resonance (CMR) and computed tomography (CCT) are advanced imaging modalities that recently revolutionized the conventional diagnostic approach to congenital heart diseases (CHD), supporting echocardiography and often replacing cardiac catheterization. This is the second of two complementary documents, endorsed by experts from the Working Group of the Italian Society of Pediatric Cardiology and the Italian College of Cardiac Radiology of the Italian Society of Medical and Interventional Radiology, aimed at giving updated indications on the appropriate use of CMR and CCT in different clinical CHD settings, in both pediatrics and adults. In this article, support is also given to radiologists, pediatricians, cardiologists, and cardiac surgeons for indications and appropriateness criteria for CMR and CCT in the most referred CHD, following the proposed new criteria presented and discussed in the first document. This second document also examines the impact of devices and prostheses for CMR and CCT in CHD and additionally presents some indications for CMR and CCT exams when sedation or narcosis is needed.

Similarity-driven motion-resolved reconstruction for ferumoxytol-enhanced whole-heart MRI in congenital heart disease.

A similarity-driven multi-dimensional binning algorithm (SIMBA) reconstruction of free-running cardiac magnetic resonance imaging data was previously proposed. While very efficient and fast, the original SIMBA focused only on the reconstruction of a single motion-consistent cluster, discarding the remaining data acquired. However, the redundant data clustered by similarity may be exploited to further improve image quality. In this work, we propose a novel compressed sensing (CS) reconstruction that performs an effective regularization over the clustering dimension, thanks to the integration of inter-cluster motion compensation (XD-MC-SIMBA). This reconstruction was applied to free-running ferumoxytol-enhanced datasets from 24 patients with congenital heart disease, and compared to the original SIMBA, the same XD-MC-SIMBA reconstruction but without motion compensation (XD-SIMBA), and a 5D motion-resolved CS reconstruction using the free-running framework (FRF). The resulting images were compared in terms of lung-liver and blood-myocardium sharpness, blood-myocardium contrast ratio, and visible length and sharpness of the coronary arteries. Moreover, an automated image quality score (IQS) was assigned using a pretrained deep neural network. The lung-liver sharpness and blood-myocardium sharpness were significantly higher in XD-MC-SIMBA and FRF. Consistent with these findings, the IQS analysis revealed that image quality for XD-MC-SIMBA was improved in 18 of 24 cases, compared to SIMBA. We successfully tested the hypothesis that multiple motion-consistent SIMBA clusters can be exploited to improve the quality of ferumoxytol-enhanced cardiac MRI when inter-cluster motion-compensation is integrated as part of a CS reconstruction.

Challenges of managing anomalous mitral arcade with severe mitral regurgitation and hydrops fetalis in infants.

Anomalous mitral arcade (MA) is a rare congenital anomaly. We report a case of MA in a newborn who presented with hydrops fetalis due to severe mitral regurgitation. After birth, he developed severe respiratory failure, congestive heart failure and airway obstruction because an enlarged left atrium from severe mitral regurgitation compressed the distal left main bronchus. There is limited experience in surgical management of this condition in Thailand, and the patient's mitral valve was too small for replacement. Therefore, he was treated with medication to control heart failure and supported with positive pressure ventilation to promote growth. We have followed the patient until the current time of writing this report at the age of 2 years, and his outcome is favourable regarding heart failure symptoms, airway obstruction, growth and development. This case describes a challenging experience in the non-surgical management of MA with severe regurgitation, which presented at birth.

The utility of novel STE parameters in echocardiographic assessment of single ventricle after Fontan palliation.

Background and aims of the study A functionally single ventricle (FSV) refers to a group of congenital heart defects that are not amenable for biventricular correction. The Fontan operation is utilized as surgical treatment for most of FSV patients. The evaluation of FSV function is extremely difficult due to its unique pathophysiology. This study aimed to explore the efficacy of speckle tracking echocardiography (STE) parameters measured at rest and during exercise for comprehensive assessment of univentricular heart. METHODS: We enrolled 37 patients with a functionally single ventricle after the Fontan operation, hospitalized in the Department of Congenital Heart Defects between years 2019 and 2021.The echocardiographic stress tests were performed in the Echocardiography Laboratory of the Congenital Heart Defects Department. The study was conducted on a bicycle ergometer in a semi-recumbent position. The parameters obtained by speckle tracking echocardiography (STE): the longitudinal strain of the FSV free wall (Ɛ) and the longitudinal strain of myocardial layers: subendocardial, medial and subepicardial were analyzed. A transmural longitudinal strain gradient (TG) was calculated as the difference between longitudinal deformation of the subendocardial and subepicardial layers. Current results of cardiac magnetic resonance imaging (CMR) and cardio-pulmonary test (CPET) were also incorporated. Demographic data, past interventions, pharmacological treatment and comorbidities were extracted from medical records. RESULTS: Ɛ at rest and during exercise were not related to the parameters of physical capacity obtained on CPET nor to the CMR results. The transmural strain gradient was dependent on physical performance parameter- peak oxygen uptake- and related to the FSV ejection fraction calculated by magnetic resonance imaging. CONCLUSIONS: The transmural strain gradient and FSV free wall strain are readily measurable and suitable for evaluating single ventricle function. The TG is positively correlated with peak oxygen uptake during the cardiopulmonary test and with the ejection fraction derived from cardiac magnetic resonance imaging. The applicability of these findings in patients undergoing the Fontan procedure warrants further exploration.

Impact of maternal body mass index (BMI) and the challenges of fetal echocardiography.

OBJECTIVES: Fetal echocardiography is the gold standard modality to detect suspected congenital heart disease (CHD). Accurate diagnosis and subsequent prognosis is even more challenging in the presence of a raised maternal body mass index (BMI). This retrospective study aimed to gain insight into the prevalence of obesity within the cohort of patients referred for fetal echocardiography. STUDY DESIGN/METHODS: Retrospective analysis of all pregnant patients referred to the Scottish National Fetal Cardiology Service between 2015 and 2021 due to a suspected fetal cardiac abnormality and examining the associated trends in maternal BMI and the Scottish Index of Multiple Deprivation (SIMD). RESULTS: BMI data were available for 962 (96.3%) of the 998 patients referred during the study period. Median BMI during the study period was 31. BMI range in the seven-year period was 16-63. There was no association between BMI group and year (P = 0.889). A median of 58% of patients referred were classified as overweight (BMI > 25 kg/m2), and only 37% were reported to have a BMI within normal limits. Referral BMI was relatively consistent in the seven years with no dramatic increase in the obese categories. Mean BMI in SIMD 5 (lowest level of deprivation), was significantly lower (P = 0.001), than in SIMD 1 (highest deprivation). CONCLUSIONS: People of child bearing age should be aware the potential limitations that a raised BMI may have upon diagnostic/screening accuracy impacting subsequent ability to provide accurate fetal cardiac diagnoses and prognostic fetal cardiac imaging.

Art or Artifact: Evaluating the Accuracy, Appeal, and Educational Value of AI-Generated Imagery in DALL·E 3 for Illustrating Congenital Heart Diseases.

Artificial Intelligence (AI), particularly AI-Generated Imagery, has the potential to impact medical and patient education. This research explores the use of AI-generated imagery, from text-to-images, in medical education, focusing on congenital heart diseases (CHD). Utilizing ChatGPT's DALL·E 3, the research aims to assess the accuracy and educational value of AI-created images for 20 common CHDs. In this study, we utilized DALL·E 3 to generate a comprehensive set of 110 images, comprising ten images depicting the normal human heart and five images for each of the 20 common CHDs. The generated images were evaluated by a diverse group of 33 healthcare professionals. This cohort included cardiology experts, pediatricians, non-pediatric faculty members, trainees (medical students, interns, pediatric residents), and pediatric nurses. Utilizing a structured framework, these professionals assessed each image for anatomical accuracy, the usefulness of in-picture text, its appeal to medical professionals, and the image's potential applicability in medical presentations. Each item was assessed on a Likert scale of three. The assessments produced a total of 3630 images' assessments. Most AI-generated cardiac images were rated poorly as follows: 80.8% of images were rated as anatomically incorrect or fabricated, 85.2% rated to have incorrect text labels, 78.1% rated as not usable for medical education. The nurses and medical interns were found to have a more positive perception about the AI-generated cardiac images compared to the faculty members, pediatricians, and cardiology experts. Complex congenital anomalies were found to be significantly more predicted to anatomical fabrication compared to simple cardiac anomalies. There were significant challenges identified in image generation. Based on our findings, we recommend a vigilant approach towards the use of AI-generated imagery in medical education at present, underscoring the imperative for thorough validation and the importance of collaboration across disciplines. While we advise against its immediate integration until further validations are conducted, the study advocates for future AI-models to be fine-tuned with accurate medical data, enhancing their reliability and educational utility.

Numerical study of hemodynamic flow in the aortic vessel of Williams syndrome patient with congenital heart disease.

Congenital arterial stenosis such as supravalvar aortic stenosis (SVAS) are highly prevalent in Williams syndrome (WS) and other arteriopathies pose a substantial health risk. Conventional tools for severity assessment, including clinical findings and pressure gradient estimations, often fall short due to their susceptibility to transient physiological changes and disease stage influences. Moreover, in the pediatric population, the severity of these and other congenital heart defects (CHDs) often restricts the applicability of invasive techniques for obtaining crucial physiological data. Conversely, evaluating CHDs and their progression requires a comprehensive understanding of intracardiac blood flow. Current imaging modalities, such as blood speckle imaging (BSI) and four-dimensional magnetic resonance imaging (4D MRI) face limitations in resolving flow data, especially in cases of elevated flow velocities. To address these challenges, we devised a computational framework employing zero-dimensional (0D) lumped parameter models coupled with patient-specific reconstructed geometries pre- and post-surgical intervention to execute computational fluid dynamic (CFD) simulations. This framework facilitates the analysis and visualization of intricate blood flow patterns, offering insights into geometry and flow dynamics alterations impacting cardiac function. In this study, we aim to assess the efficacy of surgical intervention in correcting an extreme aortic defect in a patient with WS, leading to reductions in wall shear stress (WSS), maximum velocity magnitude, pressure drop, and ultimately a decrease in cardiac workload.

Automatic segmentation of 15 critical anatomical labels and measurements of cardiac axis and cardiothoracic ratio in fetal four chambers using nnU-NetV2.

BACKGROUND: Accurate segmentation of critical anatomical structures in fetal four-chamber view images is essential for the early detection of congenital heart defects. Current prenatal screening methods rely on manual measurements, which are time-consuming and prone to inter-observer variability. This study develops an AI-based model using the state-of-the-art nnU-NetV2 architecture for automatic segmentation and measurement of key anatomical structures in fetal four-chamber view images. METHODS: A dataset, consisting of 1,083 high-quality fetal four-chamber view images, was annotated with 15 critical anatomical labels and divided into training/validation (867 images) and test (216 images) sets. An AI-based model using the nnU-NetV2 architecture was trained on the annotated images and evaluated using the mean Dice coefficient (mDice) and mean intersection over union (mIoU) metrics. The model's performance in automatically computing the cardiac axis (CAx) and cardiothoracic ratio (CTR) was compared with measurements from sonographers with varying levels of experience. RESULTS: The AI-based model achieved a mDice coefficient of 87.11% and an mIoU of 77.68% for the segmentation of critical anatomical structures. The model's automated CAx and CTR measurements showed strong agreement with those of experienced sonographers, with respective intraclass correlation coefficients (ICCs) of 0.83 and 0.81. Bland-Altman analysis further confirmed the high agreement between the model and experienced sonographers. CONCLUSION: We developed an AI-based model using the nnU-NetV2 architecture for accurate segmentation and automated measurement of critical anatomical structures in fetal four-chamber view images. Our model demonstrated high segmentation accuracy and strong agreement with experienced sonographers in computing clinically relevant parameters. This approach has the potential to improve the efficiency and reliability of prenatal cardiac screening, ultimately contributing to the early detection of congenital heart defects.