Cases Of Congenital Heart Disease Research Articles

Case report: Challenging kidney transplantation in an adolescent patient with tetralogy of Fallot

Tetralogy of Fallot is the most common cyanotic congenital heart disease. This severe disorder of cardiac physiology can impair renal function and lead to the development of cardiorenal syndrome and eventually to end-stage renal disease. Kidney transplantation may be the best option for renal replacement treatment in patients with tetralogy of Fallot, but only after correcting cardiac abnormalities and optimizing cardiac functions, all of which require a multidisciplinary approach. We report the first case of kidney transplantation in an adolescent patient with tetralogy of Fallot. Our findings confirms that kidney transplantation is a valuable treatment option in selected congenital heart disease cases.

Cardiac murmurs in children.

Approximately 50% of children experience a cardiac murmur at some point in their lives; <1% of these murmurs are attributed to congenital heart disease (CHD). Cardiac murmur might be the first clinical sign of a significant CHD in children. Despite careful routine medical examinations at birth, approximately 50% of CHD cases could remain unrecognised. Cardiovascular symptoms and signs could be specific or non-specific in neonates and children with heart murmurs. Knowledge about red flags in history and physical examinations, and syndromic associations of common CHDs are important. Auscultatory skills to identify systolic, diastolic and continuous murmurs and heart sounds are essential. Differential diagnosis should be formulated based on the location of maximum intensity of murmurs. Younger infants and children with pathological murmurs and red-flag signs should be promptly referred to local paediatric cardiology services for further investigations. Significant skill and knowledge are required for the identification of critical murmurs and associated cardiovascular problems. This review provides a simplified comprehensive update on cardiac murmurs and associated conditions in neonates and children.

Beyond borders: an appraisal of the global congenital cardiac surgery workforce.

Congenital heart disease (CHD) is the most common congenital abnormality worldwide. Patients in resource-constrained environments experience higher levels of mortality and morbidity from CHD. Many studies have quantified the incidence of CHD in resource-constrained environments and compared these to availability of surgeons per population. However, no study to date has compiled and created a repository of the global paediatric cardiac surgical workforce. We aimed to quantify the number and details of the congenital cardiac surgeons globally, compare the population of under 15's in each respective countries, and address the workforce gaps that currently exist within paediatric cardiac surgery. Cardiothoracic Surgery Network (CTSNet) was searched in 2021 to extrapolate the current paediatric cardiac surgical workforce. The data was evaluated with the current literature to address current gaps in workforce planning and sustainability to produce this appraisal. A total of 4,027 congenital cardiac surgeons were identified from CTSNet with 75% residing in high-income countries (HICs) or upper-middle-income countries (UMICs) despite these income groups only accounting for 16% of the world population. Despite similar incidence and prevalence of CHD globally, we found an unequal distribution in the availability of congenital cardiac surgeons worldwide. The disparity in the availability of surgeons between HICs and low-middle-income countries (LMICs) is a global health issue that will require serous thought and planning to resolve. The high proportion of preventable deaths from CHD cases is a regrettable figure that governments and medical organisations should further strive to decrease. Education and proactive investments in training up local teams in LMICs will allow for sustainability in global congenital cardiac surgery.

Sex differences in metabolic adaptation in infants with cyanotic congenital heart disease.

Female infants with congenital heart disease (CHD) face significantly higher postoperative mortality rates after adjusting for cardiac complexity. Sex differences in metabolic adaptation to cardiac stressors may be an early contributor to cardiac dysfunction. In adult diseases, hypoxic/ischemic cardiomyocytes undergo a cardioprotective metabolic shift from oxidative phosphorylation to glycolysis which appears to be regulated in a sexually dimorphic manner. We hypothesize sex differences in cardiac metabolism are present in cyanotic CHD and detectable as early as the infant period. RNA sequencing was performed on blood samples (cyanotic CHD cases, n = 11; controls, n = 11) and analyzed using gene set enrichment analysis (GSEA). Global plasma metabolite profiling (UPLC-MS/MS) was performed using a larger representative cohort (cyanotic CHD, n = 27; non-cyanotic CHD, n = 11; unaffected controls, n = 12). Hallmark gene sets in glycolysis, fatty acid metabolism, and oxidative phosphorylation were significantly enriched in cyanotic CHD females compared to male counterparts, which was consistent with metabolomic differences between sexes. Minimal sex differences in metabolic pathways were observed in normoxic patients (both controls and non-cyanotic CHD cases). These observations suggest underlying differences in metabolic adaptation to chronic hypoxia between males and females with cyanotic CHD. Children with cyanotic CHD exhibit sex differences in utilization of glycolysis vs. fatty acid oxidation pathways to meet the high-energy demands of the heart in the neonatal period. Transcriptomic and metabolomic results suggest that under hypoxic conditions, males and females undergo metabolic shifts that are sexually dimorphic. These sex differences were not observed in neonates in normoxic conditions (i.e., non-cyanotic CHD and unaffected controls). The involved metabolic pathways are similar to those observed in advanced heart failure, suggesting metabolic adaptations beginning in the neonatal period may contribute to sex differences in infant survival.

Comparison of Apgar scores and cord blood gas parameters in fetuses with isolated congenital heart disease and healthy controls.

This retrospective study aimed to investigate how congenital heart disease (CHD) affects early neonatal outcomes by comparing Apgar scores and umbilical cord blood gas parameters between fetuses with structural cardiac anomalies and healthy controls. Additionally, within the CHD group, the study explored the relationship between these parameters and mortality within six months. Data from 68 cases of prenatally diagnosed CHD were collected from electronic medical records, excluding cases with missing data or additional comorbidities. Only patients delivered by elective cesarean section, without any attempt at labor, were analyzed to avoid potential confounding factors. A control group of 147 healthy newborns was matched for delivery route, maternal age, and gestational week. Apgar scores at 1, 5, and 10 minutes, as well as umbilical cord blood pH, base deficit, and lactate levels, were recorded. Maternal age, gestational week at delivery, and birth weight were similar between the CHD and control groups. While Apgar score distribution was significantly lower at 1st, 5th, and 10th minutes in the CHD group, umbilical cord blood gas parameters did not show significant differences between groups. Within the CHD group, lower umbilical cord blood pH and larger base deficit were associated with mortality within six months. Newborns with CHD exhibit lower Apgar scores compared to healthy controls, suggesting potential early neonatal challenges. Furthermore, umbilical cord blood pH and base deficit may serve as predictors of mortality within six months in CHD cases. Prospective studies are warranted to validate these findings and integrate them into clinical practice, acknowledging the study's retrospective design and limitations.

Exploring the Role of Trial Occlusion Test in Patent Ductus Arteriosus (PDA) Closure: A Serial Case

Background: Patent ductus arteriosus occurs in around 1 in 2000 full-term live newborns, making up 10-15% of cases of congenital heart disease. Percutaneous device closure is largely regarded as the preferred therapy for people diagnosed with PDA. Nevertheless, the closure of the PDA with a device is still a difficult task in patients with severe PAH. The trial occlusion strategy is used to evaluate the response of patients with severe pulmonary hypertension after closing the defect by briefly blocking it. This test has the potential to serve as a reliable predictor of the future progression of pulmonary hypertension. Case Presentation: We provide a report on three instances that underwent percutaneous closure of patent ductus arteriosus (PDA) in the presence of pulmonary hypertension. A 24-year-old adult patient arrived at our hospital with symptoms of intermittent dyspnea, easy fatigability, and occasional non-productive cough. The examination detected a persistent murmur located at the upper left sternal boundary. The patient received a diagnosis of patent ductus aorta and pulmonary hypertension. Discussion: The condition was successfully treated with transcatheter closure, which included a trial occlusion test. In the second instance, a toddler aged 2 was diagnosed with patent ductus aorta and pulmonary hypertension. The procedure of percutaneous PDA closure was scheduled. Following the trial occlusion test using the device occluder, we observed an elevation in pulmonary pressure which persisted and led to a pulmonary crisis. Conclusion: The trial occlusion test aids in identifying individuals who are prone to experiencing long-term regression of pulmonary hypertension and those who may deteriorate due to progressive pulmonary vascular disease (PVD) and right heart failure, therefore determining their suitability for PDA closure.

Transthoracic echocardiography evaluation of double outlet left ventricle: Unique case report and review of literature

Double-outlet left ventricle (DOLV) is a rare cardiac malformation in which both great arteries originate from the morphological left ventricle. DOLV is associated with high mortality, generally due to heart failure, myocardial infarction, or aortic thrombosis. With surgery, the 5-year survival rate is estimated at 70%–75%. Most patients will continue to present with residual cardiac anomalies, such as aortic or mitral valve regurgitation, arrhythmias, or hypertension. We are reporting a complex case of cyanotic congenital heart disease in a 5 month old female infant suffering from DOLV, who presented to us with recurrent chest infections and bluish colouration of skin.

Geospatial Distribution of Prenatally and Postnatally Diagnosed Congenital Heart Disease: Implications for Equitable Care from a Fetal Heart Society Research Collaborative Study

To characterize patterns in the geospatial distribution of pre- and post-natally diagnosed congenital heart disease (CHD) across six surgical centers. A retrospective , multicenter case series from the Fetal Heart Society identified patients at six centers from 2012 through 2016 with prenatally (PrND) or postnatally (PoND) diagnosed hypoplastic left heart syndrome (HLHS) or d-transposition of the great arteries (TGA). Geospatial analysis for clustering was done by the average nearest neighbor (ANN) tool or optimized hot spot tool, depending on spatial unit and data type. Both point location and county case rate per 10,000 live births were assessed for geographic clustering or dispersion. Of the 453 CHD cases, 26% were PoND (n =117), and 74% were PrND (n=336). PrND cases, in all but one center, displayed significant geographic clustering by ANN. Conversely, PoND cases tended towards geographic dispersion. Dispersion of PoND HLHS occurred in two centers (ANN =1.59, p <0.001; and 1.47, p = 0.016), and PoND TGA occurred in two centers (ANN = 1.22, p < 0.05; and ANN =1.73, p<0.001). Hot spot analysis of all CHD cases (TGA and HLHS combined) revealed clustering near areas of high population density and the tertiary surgical center. Hot spot analysis of county-level case rate, accounting for population density, found variable clustering patterns. Geographic dispersion among postnatally detected CHD highlights the need for a wider reach of prenatal cardiac diagnosis tailored to the specific needs of a community. Geospatial analysis can support centers in improving the equitable delivery of prenatal care.

Paternal peri-conceptional physical activity and the risk of congenital heart disease in offspring: A case-control study.

Genetic and environmental factors have been shown to contribute to the development of congenital heart disease (CHD). To date, the focus of scientific articles has primarily centered on genetics and maternal environmental factors, with comparatively less attention given to paternal risk factors. This study aims to investigate the potential association between paternal pre-conceptional physical activity levels (PA), along with paternal peri-conceptional smoking and alcohol consumption, and the risk of CHD in offspring. An observational case-control study was conducted in Lebanon, with 279 participants, aiming to investigate potential risk factors for CHD. We included children with confirmed CHD, born between 2012 and 2022. Controls born in the same timeframe were selected randomly from the general population using online questionnaire forms. Mean age of children included was 6 years old (0-10). The pre-conceptional PA was assessed using the Global Physical Activity Questionnaire validated in Arabic. In addition, paternal smoking, alcohol consumption, and maternal risk factors were collected. The study included 128 CHD cases (45.9%) and their parents, as well as 151 healthy infants (54.1%) and their parents. There were no statistically significant variations in the alcohol consumption noted between the fathers in the case and control groups (p=0.18). The paternal involvement in recreational-related PA during the peri-conception period was associated with a reduced risk of the CHD development in offspring by 46.9% (OR=0.531, 95% CI: 0.301-0.936, p=0.029). Additionally, increasing paternal total sitting time by 1 h above the average, which was approximately 260 min (4h), increased the risk of CHD in offspring by 0.4% (p=0.001). Moreover, paternal smoking exhibited an apparent association with a 56% increased risk of offspring developing CHD, notwithstanding that the confidence intervals included the null (OR=1.56, 95% CI: 0.86-2.8, p=0.136). This observational study is the first to report a potential association between paternal PA, and CHD in offspring. This study aligns with previous reports, advocating for the paternal engagement in PA and the adoption of healthy lifestyle habits, especially during the critical stages of conception. Such practices are strongly recommended to enhance fertility and promote optimal health for offspring. However, due to the subjectivity in reporting PA and lack of molecular proof, additional prospective and molecular studies are required to validate these findings.

A rare case of congenital heart disease: common pulmonary vein atresia

Common pulmonary vein atresia is a rare congenital heart disease, in which the venous return from the lungs flows through the four pulmonary veins into the cavity behind them without connection to the heart chambers. The article presents a clinical case of a newborn child with this malformation. Computed tomography showed a lack of pulmonary vein drainage in a typical location as well as the presence of a common venous collector. On the basis of the data obtained we made a correct diagnosis.

Congenital Heart Disease among Children Undergoing Echocardiography in the Department of Paediatrics of Tertiary Care Centre: A Descriptive Cross-sectional Study

Introduction: Congenital heart disease in children are a major cause of infant mortality and morbidity. It is important to detect and manage these disorders timely as they are preventable. The objective of this study was to find out proportion of congenital heart disease in children in paediatric department in a tertiary hospital.Methods: This is a descriptive cross-sectional study carried out in the Department of Paediatric at Nepal Medical College and Teaching Hospital where all children (0-18 years) suspected to have congenital heart disease who underwent echocardiography were studied over a period of 1 year (2020-2021). The presence or absence of congenital heart disease were confirmed by echocardiography performed by paediatric cardiologist. The socioeconomic variables,clinical features and echocardiography findings were noted.Results: Out of total 249 patients,the proportion of patients diagnosed to have cardiac disorders was 73 with male predominance of 165 (66.26%). The most common age group was found to be neonates 111 (44%).The notable clinical features were murmur 47 (18.87%), tachypnoea 27 (10.84%) ,tachycardia 27 (10.84%) and cyanosis 9 (3.61%), clubbing 2 (0.80%), oedema 1 (0.40%), hypertension 9 (3.65%), murmur 47 (18.87%).Out of the total, there were 49 (19.67%) cases of acyanotic congenital heart disease, and 27 (10.84%) cases of cyanotic congenital heart disease.Conclusions: Our study focuses on early recognition of cardiac diseases which is crucial for preventing morbidity and mortality.

Neonatal Ebsteins Anomaly presenting with unique features: Rare case report

Ebstein’s anomaly (EA) of the tricuspid valve is an uncommon malformation, representing an estimate 0.3% to 0.6% of all cases of congenital heart disease. The basic defect involves a deformed and displaced tricuspid valve, resulting in symptoms that vary with age of the patient and severity of the defect. Symptoms are referable to progressive heart failure and cyanosis resulting from severe tricuspid insufficiency. Once symptoms appear the only treatment for Ebstein’s anomaly is surgical intervention. Infants with symptomatic Ebstein’s anomaly have a poor prognosis, with an expected mortality rate of 50% to 75%. Previous attempts at palliative surgical treatment in this neonatal group have produced equally dismal results. Herein, we are reporting a very sick 3 day old neonate afflicted with Ebsteins anomaly with double-outlet left ventricle (DOLV) associated with myriads of other significant congenital heart defects.

Congenital heart diseases with neonatal onset: Prevalence and circumstances of diagnosis in the newborn

Introduction: Congenital heart disease (CHD) is the most common congenital malformation. Their prevalence remains underestimated in our country despite the improvement in diagnostic means. Objective: determine the prevalence and circumstances of diagnosis of CHD in a neonatology department. Materials and methods: We carried out a descriptive cross-sectional study which included all live births with congenital heart disease, in the neonatology department of Hussein Dey University Hospital over a period of seven years (2016-2022). Data collection was done as the diagnosis progressed. We didn’t include non-malformative cardiac abnormalities. Results: We collected 231 cases of congenital heart disease (CHD) out of 66,520 live births (LV), i.e. a prevalence of 3.41‰ LV. Antenatal diagnosis was made in 89 cases (45%). Ultrasound diagnosis was made in 70% of cases in the first 3 days with 46% of cases in the first 24 days of life. Physical signs were dominated by cyanosis in 38%. Congenital heart disease with a high neonatal risk level was in 15 cases (6.5%), including 14 cases of TGV and a single case of total RVPA. Heart disease with a medium to high neonatal risk level was represented by ductal-dependent heart disease in 95 cases (41.3%) of which 30% of cases were straight obstacles including 10.8% T4F. Cardiac diseases with low neonatal risk were in 94 cases (40.8%), of which 38% of cases represented by IVC followed in 29% by AVC and 10.6% by IAC. Conclusions: Given the insufficiency of antenatal diagnosis in our cohort, congenital heart diseases were mainly diagnosed after birth in the face of suggestive clinical symptoms, thus ,The best ways to improve early diagnosis of congenital heart disease would be antenatal screening using fetal echocardiography and the introduction of systematic postnatal screening by the systematic measurement of pre- and post-ductal saturation and the generalization of echocardiography in neonatology departments.

A Patient Similarity Network (CHDmap) to Predict Outcomes After Congenital Heart Surgery: Development and Validation Study.

Although evidence-based medicine proposes personalized care that considers the best evidence, it still fails to address personal treatment in many real clinical scenarios where the complexity of the situation makes none of the available evidence applicable. "Medicine-based evidence" (MBE), in which big data and machine learning techniques are embraced to derive treatment responses from appropriately matched patients in real-world clinical practice, was proposed. However, many challenges remain in translating this conceptual framework into practice. This study aimed to technically translate the MBE conceptual framework into practice and evaluate its performance in providing general decision support services for outcomes after congenital heart disease (CHD) surgery. Data from 4774 CHD surgeries were collected. A total of 66 indicators and all diagnoses were extracted from each echocardiographic report using natural language processing technology. Combined with some basic clinical and surgical information, the distances between each patient were measured by a series of calculation formulas. Inspired by structure-mapping theory, the fusion of distances between different dimensions can be modulated by clinical experts. In addition to supporting direct analogical reasoning, a machine learning model can be constructed based on similar patients to provide personalized prediction. A user-operable patient similarity network (PSN) of CHD called CHDmap was proposed and developed to provide general decision support services based on the MBE approach. Using 256 CHD cases, CHDmap was evaluated on 2 different types of postoperative prognostic prediction tasks: a binary classification task to predict postoperative complications and a multiple classification task to predict mechanical ventilation duration. A simple poll of the k-most similar patients provided by the PSN can achieve better prediction results than the average performance of 3 clinicians. Constructing logistic regression models for prediction using similar patients obtained from the PSN can further improve the performance of the 2 tasks (best area under the receiver operating characteristic curve=0.810 and 0.926, respectively). With the support of CHDmap, clinicians substantially improved their predictive capabilities. Without individual optimization, CHDmap demonstrates competitive performance compared to clinical experts. In addition, CHDmap has the advantage of enabling clinicians to use their superior cognitive abilities in conjunction with it to make decisions that are sometimes even superior to those made using artificial intelligence models. The MBE approach can be embraced in clinical practice, and its full potential can be realized.

Congenital heart disease: clinical characterization in newborns from a referral hospital, Manaus, Amazonas, Brazil

In Brazil, the impact of congenital heart disease (CHD) remains obscured by limited data, especially in the northern region. For this reason, our study seeks to uncover the prevalence and clinical variations of CHD in Manaus, Amazonas. This study followed a cross-sectional model performed in 110 newborns with CHD diagnosed between March 2022 to April 2023. Complex CHD was present in about 80% of the newborns, which increased the risk of requiring multiple surgical interventions. We found and characterized 19 CHD phenotypes, with a higher prevalence of complex CHD cases. We documented 12 fatalities, mostly attributed to septic and cardiogenic shock related to complex CHD with high levels of urea, creatinine, AST, ALT, CRP, GGT, NT-proBNP and acidosis (p&lt;0.001). Our findings suggest a close relationship between CHD and a systemic impact with chronic/acute kidney failure and hepatopathies. Inadequate data from the information system on live births (SINASC) results in underreporting and increased CHD mortality rates, emphasizing the urgency for new strategies to enhance case identification and improve early diagnosis of critical CHD with important systemic repercussions.

Usefulness of perioperative transoesophageal echocardiography during paediatric cardiac surgery

BackgroundPaediatric transoesophageal echocardiography probes allow perioperative evaluation during paediatric congenital heart disease surgery. AimTo assess the usefulness of perioperative transoesophageal echocardiography in evaluating the severity of residual lesions, based on the type of congenital heart disease repaired in paediatric patients. MethodsA retrospective analysis was conducted on paediatric patients who underwent open-heart surgery at our tertiary centre over a four-year period. Perioperative transoesophageal echocardiography studies were performed, and residual lesions were classified as mild, moderate or severe. ResultsOverall, 323 procedures involving 310 patients with a median age of 13.8 (0.07–214.4) months and a median weight of 8.2 (2–96) kg at intervention were enrolled in the study. Twenty-one (6.5%) residual lesions led to immediate reintervention: severe right ventricular outflow tract obstruction (n=12); severe aortic regurgitation (n=3); superior vena cava stenosis (n=2); moderate residual ventricular septal defect (n=2); severe mitral regurgitation (n=1); and severe mitral stenosis (n=1). Three (0.9%) neonates had ventilation difficulties caused by the transoesophageal echocardiography probe having to be removed, but experienced no sequelae. ConclusionPerioperative transoesophageal echocardiography is a safe procedure, providing information on severe residual lesions, leading to the immediate revision of several paediatric congenital heart disease cases.

A Novel Machine Learning-Based Prediction Method for Early Detection and Diagnosis of Congenital Heart Disease Using ECG Signal Processing

Congenital heart disease (CHD) represents a multifaceted medical condition that requires early detection and diagnosis for effective management, given its diverse presentations and subtle symptoms that manifest from birth. This research article introduces a groundbreaking healthcare application, the Machine Learning-based Congenital Heart Disease Prediction Method (ML-CHDPM), tailored to address these challenges and expedite the timely identification and classification of CHD in pregnant women. The ML-CHDPM model leverages state-of-the-art machine learning techniques to categorize CHD cases, taking into account pertinent clinical and demographic factors. Trained on a comprehensive dataset, the model captures intricate patterns and relationships, resulting in precise predictions and classifications. The evaluation of the model’s performance encompasses sensitivity, specificity, accuracy, and the area under the receiver operating characteristic curve. Remarkably, the findings underscore the ML-CHDPM’s superiority across six pivotal metrics: accuracy, precision, recall, specificity, false positive rate (FPR), and false negative rate (FNR). The method achieves an average accuracy rate of 94.28%, precision of 87.54%, recall rate of 96.25%, specificity rate of 91.74%, FPR of 8.26%, and FNR of 3.75%. These outcomes distinctly demonstrate the ML-CHDPM’s effectiveness in reliably predicting and classifying CHD cases. This research marks a significant stride toward early detection and diagnosis, harnessing advanced machine learning techniques within the realm of ECG signal processing, specifically tailored to pregnant women.

A Brazilian Neonatal Unit's Experience with Functional Echocardiography and Diagnostic Findings in Congenital Heart Disease

Introduction: The diagnosis of congenital heart diseases is a challenge for pediatricians due to the diversity of clinical presentations and symptoms, just like several other diseases prevalent in the neonatal period. Often the diagnosis is established during the gestation period, sometimes the hypothesis is formulated by neonatal screening. However, several cases will require clinical suspicion from the pediatrician. Given the possibility of this diagnosis, the evaluation of the infant cardiologist is essential. Unfortunately, this professional is not always readily available. In the intensive care units, health professionals use heart rate, blood pressure, capillary refill, urinary output and acid-base balance for hemodynamic analysis. These data are significant, but nonspecific. Thus, functional echocardiography can improve hemodynamic evaluation with positive impact on diagnosis. Our objective was to conduct a retrospective analysis of hospitalizations in a Brazilian neonatal unit, with the goal of identifying the diagnoses of congenital heart diseases made by a researcher using functional echocardiography, from July 2015 to September 2017, having as inclusion criteria; clinical manifestations of distress or respiratory failure, characterized by tachypnea, signs of dyspnea, need for oxygen therapy or ventilatory support and/or hemodynamic instability, characterized by tachycardia, cyanosis, cold extremities, prolonged capillary filling time, fine pulses and/or hypotension, low urinary output. Results: During the 26 months of the study, 362 neonates were hospitalized. Of these, 223 were included in the research for presenting cardiorespiratory manifestations. We observed three cases of obstructive shock related to cardiac tamponade, 18 cases of congenital heart disease, five cases of hypertrophic myocardiopathy, seven cases of myocardial dysfunction not related to structural heart disease, 46 cases of neonatal persistent pulmonary hypertension and 27 cases of patent ductus arteriosus (six with hemodynamics repercussion). Conclusions: The results showed functional and/or anatomical changes in 105 patients analyzed (46.7%), identified a diversity of structural cardiopathies, improved hemodynamic evaluation with impact on the therapeutic approach. While using functional echocardiography in neonates, clinicians should be aware that undiagnosed critical congenital heart defects can present during this period. They should acknowledge the limitations of skills, and it should not be used as a screening tool for diagnosing or excluding congenital heart defects. A patient with a suspected critical congenital heart defect should be quickly referred to a pediatric cardiologist, even if this implies out-of-hospital patient’s transportation. We assume that the systematic implementation of this technology by the medical team can improve diagnostic accuracy, which can positively impact the therapy used. Keywords: Critical care, neonatology, ultrasonography, echocardiography, point-of-care systems, cardiac tamponade, hypertension pulmonary, heart defectal congenits.

Hypoxia-Induced Piglet Model of Cardiac Arrest with Assisted Resuscitation by Extracorporeal Membrane Oxygenation.

The mortality rate of newborns with severe congenital heart disease (CHD) has significantly decreased over the past few decades. However, many of these children experience neurological impairments, particularly following a hypoxic cardiac arrest. The use of extracorporeal membrane oxygenation (ECMO) has been considered an effective treatment for severe hypoxia in CHD cases. Various clinical studies have examined the use of ECMO for resuscitation after hypoxic cardiac arrest, but the results have been contradictory, showing a significant incidence of both mortality and morbidity in some studies while others report good outcome. In order to investigate the mechanisms behind brain injury associated with extracorporeal circulation, we have developed a neonatal porcine model of hypoxia-induced cardiac arrest followed by veno-arterial ECMO therapy.

SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.

Up to 50% of patients with severe congenital heart disease (CHD) develop life-altering neurodevelopmental disability (NDD). It has been presumed that NDD arises in CHD cases because of hypoxia before, during, or after cardiac surgery. Recent studies detected an enrichment in de novo mutations in CHD and NDD, as well as significant overlap between CHD and NDD candidate genes. However, there is limited evidence demonstrating that genes causing CHD can produce NDD independent of hypoxia. A patient with hypoplastic left heart syndrome and gross motor delay presented with a de novo mutation in SMC5. Modeling mutation of smc5 in Xenopus tropicalis embryos resulted in reduced heart size, decreased brain length, and disrupted pax6 patterning. To evaluate the cardiac development, we induced the conditional knockout (cKO) of Smc5 in mouse cardiomyocytes, which led to the depletion of mature cardiomyocytes and abnormal contractility. To test a role for Smc5 specifically in the brain, we induced cKO in the mouse central nervous system, which resulted in decreased brain volume, and diminished connectivity between areas related to motor function but did not affect vascular or brain ventricular volume. We propose that genetic factors, rather than hypoxia alone, can contribute when NDD and CHD cases occur concurrently.