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A very large fetal pericardial teratoma was diagnosed at 28 weeks gestation, prompting urgent multidisciplinary expert consultations to weigh the risks and benefits of various prenatal invasive procedures and preterm delivery for postnatal surgical management. Ultimately, the infant was born by planned cesarean section and underwent immediate cardiopulmonary bypass and surgical resection.

Introduction Methods Results Conclusion The aim of the study was to assess the predicting value of neuromarkers for psychomotor performances of congenital heart defect (CHD) patients before surgery, as until now the researchers only evaluated neuromarkers after the surgical treatment of the CHD.This cross‐sectional study included children with CHD who did not receive treatment (interventional or cardiac surgery). Psychomotor development was evaluated using the Denver II Screening Test. Blood samples were collected for neuromarkers analysis: neuron‐specific enolase (NSE), protein S100 (pS100), brain‐derived neurotrophic factor (BDNF), and glial fibrillary acidic protein (GFAP).We enrolled 77 children. Patients with CHD experienced more frequent developmental delays compared to healthy children (12–34% in the non‐cyanotic group and 26–74% in the cyanotic group). The association between type of CHD and psychomotor impairment was statistically significant (p < 0.0001, RR = 2.604, CI = 2.07–3.26). Neuromarkers value was compared between cyanotic and non‐cyanotic groups: NSE and BDNF values were higher in the cyanotic group, respectively, pS100 and GFAP had slightly higher values in the non‐cyanotic group. A correlation coefficient of 0.35 (p = 0.023) was obtained between psychomotor development and BDNF level. An AUC of 0.72 was obtained for psychomotor development and BDNF in ROC analysis with the cut‐off value of 5895 pg/ml.BDNF is showing moderate discriminative ability in predicting psychomotor development outcomes in pediatric patients with CHD. [ABSTRACT FROM AUTHOR]

Infants with congenital heart disease (CHD) often undergo thymectomy during corrective cardiac surgery (CCS). The long‐term immunological effects remain controversial, with concerns regarding increased susceptibility to infections, allergies, autoimmunity due to compromised immune tolerance mechanisms. This study aims to elucidate the long‐term immunological effects of early thymectomy. We enrolled 22 patients who underwent thymectomy in infancy and were followed up in the Pediatric Allergy and Immunology Clinic at Marmara University. We performed demographic characteristics and detailed immunological evaluation, including immunoglobulins, vaccine responses, lymphocyte subset analyses, upregulation, proliferation of T cells and T‐cell receptor excision circles (TRECs). Sixteen patients had a history of infection, including six serious infections, all in the first year. Lymphopenia was observed in 27% of patients, with a significant decrease in naive CD4+ and recent thymic emigrant T cells counts and an increase in the proportion of memory T‐cells, indicating premature immune senescence. Low levels of IgG, IgA and IgM were found in 36%, 40% and 22% of patients respectively. Vaccine responses were positive in 90% of patients. TREC levels were low in all 10 patients analysed. Seven of nine patients had normal proliferation. Twenty‐two percent of patients had allergic disease, and autoimmunity was not observed. Early thymectomy leads to permanent immunological changes that are indicative of early immunosenescence. It is recommended to preserve thymic tissue during surgery and requires long‐term follow‐up in terms of findings such as allergy and autoimmunity as well as infections due to impaired immune tolerance mechanisms. [ABSTRACT FROM AUTHOR]

The article in Clinical Genetics explores ABL1 deficiency syndromes, highlighting how mutations in different isoforms can lead to distinct diseases. The study focuses on a Lebanese consanguineous family with cardiac abnormalities, revealing a novel likely pathogenic variant in ABL1. The findings suggest that variants affecting different ABL1 isoforms may result in unique phenotypes, emphasizing the need for further research to fully understand ABL1-associated disorders. [Extracted from the article]

Background: Congenital heart disease (CHD) is a heterogeneous collection of structural abnormalities of the heart or great vessels that are present at birth. These birth defects are one of the leading causes of infant mortality and morbidity worldwide. The etiology and pathogenesis of CHD are unclear and largely considered to be multifactorial in nature. Since the chromosomal profile of CHD has not been analyzed in a large sample size, we aimed to summarize the clinical features, cytogenetics findings, and pregnancy outcomes of CHD to provide a clinical reference for prenatal diagnosis. Methods: Among 21,152 pregnant women, 471 (2.23%) showed fetal CHD on cordocentesis or amniocentesis. The number of cases showing simple CHD, simple CHD with concomitant extracardiac structural abnormalities, complex CHD, and complex CHD with concomitant extracardiac structural abnormalities was 128, 124, 89, and 130, respectively. For prenatal genetic diagnosis, karyotyping was performed with single-nucleotide polymorphism array(SNP-array)-based chromosomal microarrays, fluorescence in situ hybridization (FISH), copy number variation sequencing (CNV-seq), and BACs-on-Beads™ (BoBs) analyses. The results of ultrasonography examinations, genetic analyses, and pregnancy outcomes were recorded in detail. Results: Ventricular septal defects (VSDs) were observed in 245 (52.02%) cases of fetal CHD. Among the 471 cases of CHD, 258 (54.78%) showed other ultrasound abnormalities. The most common ultrasound abnormalities were abnormalities of the central nervous system. The 471 cases included 93 (19.75%) cases showing chromosomal abnormalities, and the incidence of these abnormalities increased with advanced maternal age or the presence of other ultrasound abnormalities. In eight cases, karyotype analysis showed normal results while SNP-array or CNV-seq results were abnormal. Among the 453 cases that were followed up, 166 (36.64%) involved pregnancy termination, 273 (60.26%) involved live births, 7 (1.55%) involved fetal death in utero, and 7 (1.55%) involved neonatal death after birth. Conclusions: Fetuses with CHD showed higher rates of chromosomal abnormalities. In cases diagnosed with fetal CHD during fetal ultrasonic examination, the mothers should undergo a careful and comprehensive fetal ultrasound scan as well as prenatal genetic testing, including karyotype analysis and SNP-array or CNV-sequencing. The prognosis for simple fetal CHD is good, while the prognosis for complex fetal CHD and extracardiac anomalies is poor. [ABSTRACT FROM AUTHOR]

Congenital malformations in cattle pose a diagnostic challenge with limited treatment options and are often associated with a guarded prognosis. The aim of this study was to characterize the clinicopathological phenotype of a viable calf with complex congenital heart defects and carpus valgus, and to identify a possible genetic cause using a whole genome sequencing trio approach. A 3‐month‐old female Holstein calf was referred for respiratory distress and congenital carpal deviation. Clinicopathologic findings included ventricular septal defect, ventricular dilatation, atrioventricular valve dysplasia, an overriding aorta, and unilateral carpus valgus. Genetic analysis revealed a private heterozygous missense variant in BRI3BP affecting an evolutionarily conserved residue (c.478G>A; p.Val160Ile). The variant was predicted to be deleterious and was present only in the affected calf and was absent in more than 5100 sequenced bovine genomes, including both parents, indicating a de novo origin. This study implicates an important role for the uncharacterized BRI3 binding protein in cardiac and possibly also bone development. By presenting the first BRI3BP‐related disease model, this study demonstrates the potential to gain new insights into the function of individual genes by using phenotypically well‐studied spontaneous mutants in large animals, and it provides a novel candidate gene for similar conditions in humans. [ABSTRACT FROM AUTHOR]

Background: Nearly half of congenital heart defects (CHDs) related to mortality occur during infancy although advancements in treatments have increased the survival rates. This study comprehensively examined overall and surgical mortality in CHD infants with the highest mortality rates in an effort to improve our understanding of CHD epidemiology. Methods: Participants were drawn from a dataset of 1,964,691 infants born between 2014 and 2018 in Korea. Crucial CHDs are defined here as including diverse categorical defects and classical critical CHDs but excluding simple shunt defects. Overall mortality (procedural and natural mortality) and procedural mortality (interventional and surgical mortality) for infants were analyzed. Results: The performance rate for multiple procedures in infants with crucial CHDs was 16%. The overall and surgical mortalities of crucial CHDs were 8% and 7%. The mortalities of palliative procedures were relatively high. Procedural mortalities for infants were significantly decreased in the tetralogy of Fallot (TOF), atrioventricular septal defects, and total anomalous pulmonary venous return (TAPVR) compared with overall mortalities for infants. Surgical mortalities for infants involving TOF and TAPVR were significantly lower, but those for infants involving hypoplastic left heart syndrome (HLHS) were higher than those for all ages. Conclusions: Palliative procedural techniques in infants must be improved to obtain better outcomes, particularly in the palliative surgery of HLHS. The infantile procedural outcomes for TOF and TAPVR are excellent and important in order to overcome disastrous circumstances during infancy. This comprehensive study of the overall and procedural mortalities of CHDs may have laid a cornerstone for CHD epidemiology in Korean infants. [ABSTRACT FROM AUTHOR]

Objective Fetal diagnosis of coarctation of the aorta (CoA) is currently associated with a high false-positive rate. Many predictive markers may be gestational age (GA)-specific. We sought to establish GA-specific traditional and speckle-tracking fetal echocardiography (STE) markers predictive of true CoA in neonates with prenatal suspicion. Study Design This is a retrospective case–control study. We compared the fetal ventricular and arch dimensions, as well as the deformation parameters by STE, of infants who required a postnatal intervention for their CoA with those who did not. Cohort was stratified based on GA before or after 30 weeks. Data extractors were masked to the outcome. The first fetal echocardiogram available was used. Results Seventy-five newborns with a fetal echocardiography performed between October 2013 and May 2022 for an antenatal suspicion of CoA were included, of which 59 (79%) had an aortic arch with nonsignificant obstruction upon ductal closure, and 16 (21%) underwent a neonatal intervention for a confirmed CoA. Before 30 weeks' GA, the right ventricular to left ventricular (RV/LV) end-diastolic width and end-diastolic area (EDA) ratios were most associated with postnatal CoA confirmation (area under the curve [AUCs] = 0.96 and 0.92). After 30 weeks' GA, the RV/LV end-diastolic width ratio (AUC = 0.95), the Z-score for the ascending aorta (AUC = 0.93), and the LV end-diastolic width Z-score (AUC = 0.91) performed the best. A decreased RV peak longitudinal strain was observed in those who developed true CoA and performed well by receiver operating characteristic analysis after 30 weeks (AUC = 0.85). In the overall cohort, the RV/LV EDA ratio was the most sensitive predictor of CoA and identified all cases with CoA. Indeed, a cutoff > 1.24 had a specificity of 69.5% and a sensitivity of 100% (receiver operating characteristic curve with an AUC of 0.88). Conclusion We outlined sensitive and specific fetal markers associated with postnatal CoA based on GA at suspicion. Key Points Fetal ventricular disproportion predicts postnatal coarctation. A decreased right ventircular contraction was observed in those with coarctation. Fetal markers differ based on gestational age at fetal evaluation. [ABSTRACT FROM AUTHOR]

Our aim was to investigate the ability of an artificial intelligence (AI)-based algorithm to differentiate innocent murmurs from pathologic ones. An AI-based algorithm was developed using heart sound recordings collected from 1413 patients at the five university hospitals in Finland. The corresponding heart condition was verified using echocardiography. In the second phase of the study, patients referred to Helsinki New Children's Hospital due to a heart murmur were prospectively assessed with the algorithm, and then the results were compared with echocardiography findings. Ninety-eight children were included in this prospective study. The algorithm classified 72 (73%) of the heart sounds as normal and 26 (27%) as abnormal. Echocardiography was normal in 63 (64%) children and abnormal in 35 (36%). The algorithm recognized abnormal heart sounds in 24 of 35 children with abnormal echocardiography and normal heart sounds with normal echocardiography in 61 of 63 children. When the murmur was audible, the sensitivity and specificity of the algorithm were 83% (24/29) (confidence interval (CI) 64–94%) and 97% (59/61) (CI 89–100%), respectively. Conclusion: The algorithm was able to distinguish murmurs associated with structural cardiac anomalies from innocent murmurs with good sensitivity and specificity. The algorithm was unable to identify heart defects that did not cause a murmur. Further research is needed on the use of the algorithm in screening for heart murmurs in primary health care. What is Known: • Innocent murmurs are common in children, while the incidence of moderate or severe congenital heart defects is low. Auscultation plays a significant role in assessing the need for further examinations of the murmur. The ability to differentiate innocent murmurs from those related to congenital heart defects requires clinical experience on the part of general practitioners. No AI-based auscultation algorithms have been systematically implemented in primary health care. What is New: • We developed an AI-based algorithm using a large dataset of sound samples validated by echocardiography. The algorithm performed well in recognizing pathological and innocent murmurs in children from different age groups. [ABSTRACT FROM AUTHOR]

Advances in the management of congenital heart disease (CHD) have significantly decreased mortality rates, indicating a need for continuous care as a chronic condition throughout the child's lifespan. This study examined the association of nurse–mother partnerships with parenting stress and family resilience among South Korean mothers of children with CHD. This descriptive study involved 93 mothers of children aged six years or younger with CHD admitted to a hospital. Data were collected from September to November 2020 and analyzed using SPSS/WIN (version 29.0) for t -tests, analyses of variance, Pearson's correlation coefficient, and multiple regression analyses. The means and standard deviations of the nurse – mother partnership, parenting stress, and family resilience were 4.13 ± 0.47, 76.98 ± 16.6, and 56.54 ± 7.86 points, respectively. Parenting stress increased as the number of hospitalizations and surgeries increased and with complex types of CHD. Nurse–mother partnerships were stronger with longer hospital stays. Family resilience was higher with younger children, fewer rehospitalizations, and shorter hospital stays. A positive correlation was found between nurse–mother partnerships and family resilience, and a negative correlation between parenting stress and family resilience. Factors influencing parenting stress included family resilience, rehospitalizations, and complex types of CHD, and those affecting family resilience were nurse–mother partnerships, parenting stress, and the child's age. Nurse–mother partnerships significantly affect family resilience. Enhancing nurse–mother partnerships can improve family resilience, which in turn can reduce parenting stress, thus offering guidance for future nursing interventions. [ABSTRACT FROM AUTHOR]

Introduction: 5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome. Methods: A retrospective review of the abnormal microarray cases with congenital heart defects in Children's Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium. Results: A retrospective review at nine pediatric centers identified 4 patients with 5p deletions and left outflow tract obstruction (LVOTO). Three of these patients had additional copy number variants. We present data suggesting an association of LVOTO with 5p deletion with high mortality in the presence of additional copy number variants. Conclusion: A rare combination of 5p deletion and left ventricular outflow obstruction was observed in the registry of copy number variants and congenital heart defects. [ABSTRACT FROM AUTHOR]

Determine obstetrical and neonatal outcomes in neonates with major CHD delivered at a level IV neonatal intensive care units (NICU) center lacking onsite pediatric cardiac surgery.A 10- year retrospective review of all neonates admitted to our level IV NICU, with CHD between January 1st, 2011 and December 31st, 2021. Births and NICU charts were cross queried with those from our perinatal center which include pediatric cardiology records. Terminations and stillbirths were excluded.A total of 285 neonates with major CHD and 78 with minor defects were included. In the major CHD group, 82.8 % had an isolated cardiac anomaly and 17.2 % had an extracardiac anomaly. Type of extracardiac anomaly had no impact on neonatal survival. Prenatal diagnosis of aneuploidy did not impact survival in major CHD. Truncus arteriosus had the highest NICU mortality at 34.0 % followed by hypoplastic left heart syndrome (HLHS) at 31.6 %. Double outlet right ventricle with transposition of the great vessels and interrupted aortic arch (both types) had a 25 % mortality. Neonates with truncus arteriosus and total anomalous pulmonary venous returns were likely to have 5-min Apgar score<7. Transfer rate of neonates with major CHD for cardiac surgery was 58.6 %. Of those 81.5 % were discharged home, 14.3 % expired before discharge, and 1 % were transferred elsewhere post-operatively for higher level of care.Neonates with major CHD can deliver safely at a level IV NICU lacking onsite pediatric cardiac surgery. Our neonatal mortality was high for HLHS and truncus arteriosus, however comparable to other centers with proximate pediatric cardiac surgery. [ABSTRACT FROM AUTHOR]

Background: Role of echocardiography at present is not restricted to detect congenital heart disease only in neonates. It has become an integral part in managing neonates with diagnosing other functional abnormality as well. Our aim was to describe the indication of echocardiography and the positive findings in echocardiography resulting change in clinical management. Methods: It is a prospective and hospital-based study. Was done in special care newborn unit (SNCU) and newborn intensive care unit (NICU), Department of Paediatrics, MKCGMCH, Berhampur, Odisha from Nov’2020 – Oct’2021. Results: Total number of babies referred for echocardiography were 146. Which was 3% of total newborn admission. The median birth weight was 2545 gm (965-5235gm), gestational age 38wk(28-43wk) and postnatal days scan done was D7(D3- D28). Most common indication for echo referral was for cardiac murmur 63(43.15%). The echocardiography findings which change the management plan were structural heart disease 73(50%), minor 29(19.86%), functional18(12.34%) and normal 26(17.80%). 17(24%) of total structurally abnormal heart required referral for early cardiac surgery. Conclusions: Our finding’s showed echocardiography is an essential tool in newborn care for differentiating cardiac from noncardiac cause for similar symptoms and signs. Neonatologist and Paediatricians should be trained regarding point of care cardiac echocardiography for quick and timely management of the newborns [ABSTRACT FROM AUTHOR]

There is limited experience in evaluating abnormal ductus arteriosus (DA) insertion pattern by contrast-enhanced cardiac computed tomography (cardiac CT) in patients with right-sided obstructive cardiac defects. Retrospective review of 38 infants with right-sided obstructive cardiac defects who underwent a preoperative cardiac CT between 2016 and 2021. We reviewed the types of cardiac lesions, patterns of ductal insertion, frequency of pulmonary artery (PA) stenosis requiring intervention, total dose length product (DLP), and effective radiation dose. Of 38 infants, 45% were female, the median gestational age and weight were 37 (range 34–40) weeks and 2.95 (range 2–4) kg. The most common pathologies were pulmonary atresia with ventricular septal defect (24%) and tetralogy of Fallot (24%). The abnormal ductal insertion patterns were DA inserting into the left PA in 39%, DA bifurcating into branch PA in 32%, and DA inserting into the right PA in 13%. Of the 38 infants, 76% developed branch PA stenosis requiring intervention. Among patients with abnormal DA insertion, 44% required branch PA arterioplasty during their index surgery compared to 17% without abnormal DA insertion. Regardless of the type of abnormal DA insertion, 67% developed bilateral branch PA stenosis over time. The mean DLP was 8 mGy-cm and the mean calculated effective radiation dose was 0.312 mSv. The utilization of contrast-enhanced cardiac CT in infants with right-sided obstructive heart defects can offer crucial insights into abnormal ductus arteriosus insertion patterns. This information is valuable for effective procedure planning and for monitoring the development of branch pulmonary artery stenosis. [ABSTRACT FROM AUTHOR]

Background This case report details the application of left bundle branch pacing in a patient with congenitally corrected transposition of the great arteries (cc-TGA), a rare congenital heart defect characterized by anatomical complexities that pose unique challenges in the management of device-related complications and heart failure. The patient's history is notable for complex anatomical considerations, cardiovascular implantable electronic device (CIED) infection, and heart failure. Case summary The patient underwent a series of interventions, including treatment for pocket-site infections, abandonment of epicardial leads, and an unsuccessful attempt at trans-catheter leadless pacemaker implantation. Given the patient's complex anatomy and prior CIED infection, traditional pacing methods were deemed unsuitable, leading to the selection of left bundle branch pacing. The lead implantation was guided using 3D electro-anatomical mapping to ensure synchronous physiologic pacing in a patient with heart failure. Discussion The case underscores the heightened risks faced by cc-TGA patients, with a focus on systemic right ventricular dysfunction and pacing-induced ventricular dysfunction. In these patients, ventricular synchrony is critical and can be achieved with biventricular pacing. Physiologic pacing emerges as a promising alternative to cardiac resynchronization therapy (CRT), especially in cases where endovascular CRT is unfeasible. This case demonstrates the utilization of 3D electro-anatomical mapping for achieving successful physiologic pacing in complex congenital heart lesions. At the 12-month follow-up, the patient presented with stable clinical status and a narrow QRS complex. Echocardiography indicated improvement in the right systemic ventricular function. [ABSTRACT FROM AUTHOR]

Abstract Background Congenital heart disease (CHD) is a heterogeneous collection of structural abnormalities of the heart or great vessels that are present at birth. These birth defects are one of the leading causes of infant mortality and morbidity worldwide. The etiology and pathogenesis of CHD are unclear and largely considered to be multifactorial in nature. Since the chromosomal profile of CHD has not been analyzed in a large sample size, we aimed to summarize the clinical features, cytogenetics findings, and pregnancy outcomes of CHD to provide a clinical reference for prenatal diagnosis. Methods Among 21,152 pregnant women, 471 (2.23%) showed fetal CHD on cordocentesis or amniocentesis. The number of cases showing simple CHD, simple CHD with concomitant extracardiac structural abnormalities, complex CHD, and complex CHD with concomitant extracardiac structural abnormalities was 128, 124, 89, and 130, respectively. For prenatal genetic diagnosis, karyotyping was performed with single-nucleotide polymorphism array(SNP-array)-based chromosomal microarrays, fluorescence in situ hybridization (FISH), copy number variation sequencing (CNV-seq), and BACs-on-Beads™ (BoBs) analyses. The results of ultrasonography examinations, genetic analyses, and pregnancy outcomes were recorded in detail. Results Ventricular septal defects (VSDs) were observed in 245 (52.02%) cases of fetal CHD. Among the 471 cases of CHD, 258 (54.78%) showed other ultrasound abnormalities. The most common ultrasound abnormalities were abnormalities of the central nervous system. The 471 cases included 93 (19.75%) cases showing chromosomal abnormalities, and the incidence of these abnormalities increased with advanced maternal age or the presence of other ultrasound abnormalities. In eight cases, karyotype analysis showed normal results while SNP-array or CNV-seq results were abnormal. Among the 453 cases that were followed up, 166 (36.64%) involved pregnancy termination, 273 (60.26%) involved live births, 7 (1.55%) involved fetal death in utero, and 7 (1.55%) involved neonatal death after birth. Conclusions Fetuses with CHD showed higher rates of chromosomal abnormalities. In cases diagnosed with fetal CHD during fetal ultrasonic examination, the mothers should undergo a careful and comprehensive fetal ultrasound scan as well as prenatal genetic testing, including karyotype analysis and SNP-array or CNV-sequencing. The prognosis for simple fetal CHD is good, while the prognosis for complex fetal CHD and extracardiac anomalies is poor.

The removal of balloon fragments from the pulmonary artery without damaging the pulmonary and tricuspid valves can be difficult. Four cases during transcatheter pulmonary valve replacement are described in which a novel retrieval system was used to facilitate safe removal. (Level of Difficulty: Advanced.).

Background: Neonates with critical congenital heart disease of the ductal-dependent pulmonary circulation type (CCHD-DDPC) require prostaglandin E1 (PGE1) to maintain oxygen saturation until surgery. However, the factors contributing to the maintenance doses of PGE1 remain unclear. This study aimed to determine the predictors of high maintenance PGE1 doses in these neonates. Methods: This retrospective cohort study included neonates with CCHD-DDPC at Songklanagarind Hospital between January 1, 2006, and December 31, 2021. Factors associated with high maintenance PGE1 doses (> 0.01 mcg/kg/min) were analyzed to identify predictors. Odds ratios were calculated using tabulation and logistic regression analysis. A prediction score was developed for high maintenance PGE1 doses. Results: Among 96 neonates with CCHD-DDPC, 55 % required high maintenance doses of PGE1. Three factors significantly associated with high maintenance PGE1 doses were patent ductus arteriosus (PDA) size-to-birthweight ratio ≤1.3 mm/kg, initial PGE1 dose >0.03 mcg/kg/min, and preoperative invasive mechanical ventilation. The area under the receiver operating characteristic curve for these three predictors was 0.7409. A predictive score of 0–3 was created based on these factors. The probabilities of receiving a high maintenance dose of PGE1 for patients with overall scores of 0, 1, 2, and 3 were 0.19 (95 % CI: 0.04–0.33), 0.42 (95 % CI: 0.30–0.54), 0.69 (95 % CI: 0.57–0.81), and 0.87 (95 % CI: 0.76–0.99), respectively. Conclusions: In neonates with CCHD-DDPC, a PDA size-to-birth weight ratio ≤1.3 mm/kg, an initial dose of PGE1 > 0.03 mcg/kg/min, and preoperative invasive mechanical ventilation were predictors of high maintenance PGE1 doses during the preoperative period.

Abstract Background Percutaneous pulmonary valve implantation (PPVI) is a recognized alternative treatment to surgery for patients with dysfunctional right ventricular outflow tracts. Patient selection is essential to avoid serious complications from attempted treatment, such as rupture or dissection, especially of the calcified outflow tracts. We describe a case with an unexpected rupture of a calcified homograft valve and main pulmonary artery, which was treated successfully by emergency implantation of a self-expanding Venus P-Valve (Venus MedTech, Hangzhou, China) without the need for pre-stenting with a covered stent. Case details A 13-year-old boy had two previous operations of tetralogy of Fallot, one a total repair and the other a homograft valved conduit for pulmonary regurgitation. He presented with dyspnea and severe right ventricular outflow tract obstruction (RVOTO) and had a calcified outflow tract and main pulmonary artery. In the catheter laboratory, a non-compliant balloon dilation resulted in a contained rupture of the conduit. The patient remained hemodynamically stable, and the rupture was treated with a self-expandable Venus P-Valve without the need for a covered stent combined with a balloon-expandable valve or a further surgical procedure. Discussion Preprocedural evaluation with an inflating balloon is necessary to examine tissue compliance and determine suitability for PPVI. However, this condition is accompanied by a risk of conduit rupture. Risk factors of this complication are calcification and homograft use. These ruptures are mostly controlled with a prophylactic or therapeutic covered stent, with a low rate of requiring surgery. However, there are severe ruptures which lead to hemothorax and death. In the available literature, there was no similar reported case of conduit rupture, which a self-expandable Pulmonary valve stent has managed. It seems that fibrosis and collagen tissue around the heart, formed after open surgeries, can contribute to the control of bleeding in these cases. Conclusion (clinical Learning Point) The suitability of patients for the PPVI procedure should be examined more carefully, specifically patients with homograft and calcification in their conduit. Furthermore, conduit rupture might be manageable with self-expandable artificial pulmonary valves, specifically in previously operated patients, and the applicability of this hypothesis is worth examining in future research.

Objective: To assess the association between increased maternal prepregnancy body mass index (BMI) and the risk of congenital heart defect (CHD) in offspring. Methods: This systematic review and meta‐analysis searched PubMed/MEDLINE, Web of Science and Scopus from inception to 20 April 2023. Risk estimates were abstracted or calculated for increased BMI categories (overweight, obesity, moderate obesity and severe obesity) compared with normal weight (reference). Fixed‐effects or random‐effects models were used to combine individual study risk estimates based on the degree of heterogeneity. Sensitivity analyses were conducted to weight pooled estimates for relevant moderators, particularly diabetes before and during pregnancy. Subgroup analyses for specific CHD subtypes were conducted if there were at least two studies with available data. Findings were presented for groups of defects, categorized using severity and topographic–functional criteria, and for individual defects. The certainty of the evidence for each effect estimate was evaluated according to Grading of Recommendations, Assessment, Development and Evaluation (GRADE) guidelines. Results: Overall, 31 studies comprising 4 861 693 patients and 86 136 CHD cases were included. The risk of CHD increased progressively from moderate to severe obesity (pooled odds ratio (OR), 1.15 (95% CI, 1.11–1.20) and 1.39 (95% CI, 1.27–1.53), respectively). Sensitivity analysis indicated that this effect persisted independently of maternal diabetes status before or during pregnancy. In the subgroup analysis, obesity was associated with up to a 1.5‐fold increase in the risk of severe CHD (pooled OR, 1.48 (95% CI, 1.03–2.13)). Severe obesity was associated with an even higher risk, with 1.8‐times higher odds compared with the reference group for specific CHD subtypes, including tetralogy of Fallot (pooled OR, 1.72 (95% CI, 1.38–2.16)), pulmonary valve stenosis (pooled OR, 1.79 (95% CI, 1.39–2.30)) and atrial septal defect (pooled OR, 1.71 (95% CI, 1.48–1.97)). Conclusions: Maternal weight is a crucial modifiable risk factor for CHD, particularly for severe forms of defect. Further research is needed to investigate whether weight management before pregnancy might serve as a preventive measure against CHD. In pregnant women with obesity, fetal echocardiography should be a routine diagnostic procedure. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Objective: To report our experience of fetal aortic valvuloplasty (FAV) for critical aortic stenosis (AS), with a focus on the postnatal evolution of the patients. Methods: This was a retrospective study including all fetuses with critical AS which underwent FAV in a single center between January 2011 and June 2022. FAV was performed under ultrasound guidance. Technical success was based upon balloon inflation across the aortic valve and improvement of the antegrade aortic flow across the aortic valve. At birth, a biventricular circulation (BVC) strategy was decided assuming the left ventricular (LV) systolic and diastolic function would ensure the systemic circulation. Results: Sixty‐three FAV procedures were performed in 58 fetuses, at a median (range) gestational age of 26.2 (20.3–32.2) weeks. The procedure was technically successful in 50/58 (86.2%) fetuses. There were 11/58 (19.0%) cases of in‐utero demise and 9/58 (15.5%) terminations of pregnancy. No patient was liveborn after an unsuccessful procedure. Thirty‐eight (65.5%) infants were liveborn, at a median (range) gestational age of 38.1 (29.0–40.6) weeks, of whom 21 (55.3%) required prostaglandin treatment. Twenty‐eight of the 38 (73.7%) liveborn children (48.3% of the study population) entered the BVC pathway at birth. Among them, 20 (71.4%) required an aortic valvuloplasty procedure at birth (11 (55.0%) percutaneous balloon, nine (45.0%) surgical) and eight (28.6%) did not require any treatment at birth, but, of these, five (62.5%) underwent surgical valvuloplasty between day 26 and day 1200 of age. Eleven (39.3%) of the infants with BVC at birth required a second intervention and four (14.3%) of them required a third intervention. Two (7.1%) infants who entered the BVC pathway at birth underwent conversion to univentricular circulation (UVC). None of the surviving children with BVC developed pulmonary hypertension. The overall survival rate in those with BVC at birth was 22/28 (78.6%) at a median (range) follow‐up of 23.3 (2.0–112.6) months. Ten of the 58 (17.2%) patients had UVC at birth. Among these, six (60.0%) received compassionate care from birth and four (40.0%) underwent surgery. Three of the 10 patients who had UVC at birth were still alive at the latest follow‐up assessment, at a median (range) gestational age of 24.3 (8.3–48.7) months. Conclusions: FAV for critical AS led to increase of antegrade aortic flow in 86.2% of fetuses, with BVC being achieved in 48.3% (73.7% of the liveborn cases). Among patients with BVC at birth, the rate of reintervention was high, but 78.6% of these children were alive at the latest evaluation. © 2024 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: Family‐centred care (FCC), while a core value of paediatric hospitals, has not been well‐studied in the paediatric cardiac intensive care unit (PCICU). Aim: To describe parents' perceptions of FCC provided by nurses in the PCICU during their infant's recovery from neonatal cardiac surgery and explore associations of perceptions of FCC on parent post‐traumatic stress (PTS) 4 months post‐discharge. Study Design: Data obtained from a previously conducted randomized clinical trial (RCT) on telehealth home monitoring after neonatal cardiac surgery at three free‐standing paediatric hospitals were analysed from a subset of 164 parents who completed the FCC Scale at hospital discharge, which measures a parent's experience of nursing care that embodies core principles of FCC. The RCT intervention was provided after hospital discharge, having no influence on parent's perception of FCC. The intervention also had no effect on PTS. Results: Perceived FCC was lowest for items 'nurses helped me feel welcomed' and 'nurses helped me feel important in my child's care'. Having 12%–19% points lower perception of FCC at hospital discharge was associated with parent experience of six or more PTS symptoms, at least moderate PTS symptom severity, or PTS disorder diagnosis at 4‐month follow‐up. Every 10% increase in parental perceptions of FCC was associated with less PTS symptoms (β = −0.29, SE = 0.12; p =.02) and lower PTS symptom cluster scores of arousal (β = −0.18, SE = 0.08; p =.02). Conclusions: Parents who perceived lower FCC during their infants' hospitalization were at increased risk for the development of PTS symptoms, more PTS symptom severity and PTS disorder diagnosis 4‐months post‐discharge. Relevance to Clinical Practice: Nurses have a prominent role to support the implementation of FCC for infants with cardiac defects and their parents. FCC may positively influence overall parent mental health and well‐being, reducing the trauma and distress of the PCICU experience. [ABSTRACT FROM AUTHOR]

Neonates with critical congenital heart disease of the ductal-dependent pulmonary circulation type (CCHD-DDPC) require prostaglandin E1 (PGE1) to maintain oxygen saturation until surgery. However, the factors contributing to the maintenance doses of PGE1 remain unclear. This study aimed to determine the predictors of high maintenance PGE1 doses in these neonates. This retrospective cohort study included neonates with CCHD-DDPC at Songklanagarind Hospital between January 1, 2006, and December 31, 2021. Factors associated with high maintenance PGE1 doses (> 0.01 mcg/kg/min) were analyzed to identify predictors. Odds ratios were calculated using tabulation and logistic regression analysis. A prediction score was developed for high maintenance PGE1 doses. Among 96 neonates with CCHD-DDPC, 55 % required high maintenance doses of PGE1. Three factors significantly associated with high maintenance PGE1 doses were patent ductus arteriosus (PDA) size-to-birthweight ratio ≤1.3 mm/kg, initial PGE1 dose >0.03 mcg/kg/min, and preoperative invasive mechanical ventilation. The area under the receiver operating characteristic curve for these three predictors was 0.7409. A predictive score of 0–3 was created based on these factors. The probabilities of receiving a high maintenance dose of PGE1 for patients with overall scores of 0, 1, 2, and 3 were 0.19 (95 % CI: 0.04–0.33), 0.42 (95 % CI: 0.30–0.54), 0.69 (95 % CI: 0.57–0.81), and 0.87 (95 % CI: 0.76–0.99), respectively. In neonates with CCHD-DDPC, a PDA size-to-birth weight ratio ≤1.3 mm/kg, an initial dose of PGE1 > 0.03 mcg/kg/min, and preoperative invasive mechanical ventilation were predictors of high maintenance PGE1 doses during the preoperative period. [ABSTRACT FROM AUTHOR]

Background: Percutaneous pulmonary valve implantation (PPVI) is a recognized alternative treatment to surgery for patients with dysfunctional right ventricular outflow tracts. Patient selection is essential to avoid serious complications from attempted treatment, such as rupture or dissection, especially of the calcified outflow tracts. We describe a case with an unexpected rupture of a calcified homograft valve and main pulmonary artery, which was treated successfully by emergency implantation of a self-expanding Venus P-Valve (Venus MedTech, Hangzhou, China) without the need for pre-stenting with a covered stent. Case details: A 13-year-old boy had two previous operations of tetralogy of Fallot, one a total repair and the other a homograft valved conduit for pulmonary regurgitation. He presented with dyspnea and severe right ventricular outflow tract obstruction (RVOTO) and had a calcified outflow tract and main pulmonary artery. In the catheter laboratory, a non-compliant balloon dilation resulted in a contained rupture of the conduit. The patient remained hemodynamically stable, and the rupture was treated with a self-expandable Venus P-Valve without the need for a covered stent combined with a balloon-expandable valve or a further surgical procedure. Discussion: Preprocedural evaluation with an inflating balloon is necessary to examine tissue compliance and determine suitability for PPVI. However, this condition is accompanied by a risk of conduit rupture. Risk factors of this complication are calcification and homograft use. These ruptures are mostly controlled with a prophylactic or therapeutic covered stent, with a low rate of requiring surgery. However, there are severe ruptures which lead to hemothorax and death. In the available literature, there was no similar reported case of conduit rupture, which a self-expandable Pulmonary valve stent has managed. It seems that fibrosis and collagen tissue around the heart, formed after open surgeries, can contribute to the control of bleeding in these cases. Conclusion (clinical Learning Point): The suitability of patients for the PPVI procedure should be examined more carefully, specifically patients with homograft and calcification in their conduit. Furthermore, conduit rupture might be manageable with self-expandable artificial pulmonary valves, specifically in previously operated patients, and the applicability of this hypothesis is worth examining in future research. [ABSTRACT FROM AUTHOR]

We report a case of an active-duty diver who developed severe decompression sickness with concomitant patent foramen ovale that was successfully closed contrary to standard guideline recommendations. This case should prompt evaluation of the role of cardiac screening in occupational divers, including tactical athletes, relative to recreational divers. [ABSTRACT FROM AUTHOR]

Rationale: Hemodynamically significant patent ductus arteriosus (hsPDA) in premature infants has been associated with bronchopulmonary dysplasia (BPD) and pulmonary hypertension (PH). However, these associations remain incompletely understood. Objectives: To assess the associations between hsPDA duration and clinical outcomes, PH, and phenotypic differences on lung magnetic resonance imaging (MRI). Methods: In this retrospective cohort study, we identified all infants with BPD at <32 weeks' gestation who also underwent research lung MRI at <48 weeks' postmenstrual age (PMA) from 2014 to 2022. Clinical echocardiograms were reviewed for hsPDA and categorized as no hsPDA, hsPDA 1–60 days, and hsPDA >60 days. Outcome variables included BPD severity, PH at 36 weeks' PMA, PH after 36 weeks' PMA in the absence of shunt (PH–pulmonary vascular disease [PVD]), tracheostomy or death, and lung phenotype by MRI via modified Ochiai score, indexed total lung volume, and whole-lung hyperdensity. Logistic regression and ANOVA were used. Measurements and Main Results: In total, 133 infants born at 26.2 ± 1.9 weeks, weighing 776 ± 276 g, were reviewed (47 with no hsPDA, 44 with hsPDA 1–60 days, and 42 with hsPDA >60 d). hsPDA duration > 60 days was associated with BPD severity (P < 0.01), PH at 36 weeks' PMA (adjusted odds ratio [aOR], 9.7 [95% confidence interval (CI), 3.3–28.4]), PH–PVD (aOR, 6.5 [95% CI, 2.3–18.3]), and tracheostomy or death (aOR, 3.0 [95% CI, 1.0–8.8]). Duration of hsPDA > 60 days was associated with higher Ochiai score (P = 0.03) and indexed total lung volume (P = 0.01) but not whole-lung hyperdensity (P = 0.91). Conclusions: In infants with moderate or severe BPD, prolonged exposure to hsPDA is associated with BPD severity, PH–PVD, and increased parenchymal lung disease by MRI. [ABSTRACT FROM AUTHOR]

Neonates with congenital heart disease (CHD) have smaller brain volume at birth. High rates of placental vascular malperfusion lesions may play a role in disrupted brain development. This is a single-center retrospective cohort study of infants born between 2010 and 2019 who were diagnosed with a major cardiac defect requiring surgery in the first year of life. Doppler ultrasound RI of the middle cerebral artery (MCA) and anterior cerebral artery were calculated within the first 72 hours of life. Placentas were evaluated using a standardized approach. Over the study period, there were 52 patients with hypoplastic left heart syndrome (HLHS), 22 with single-ventricle right ventricular outflow tract obstruction (SV-RVOTO), 75 with a two-ventricle cardiac defect (2V), and 25 with transposition of the great arteries (TGA). MCA Doppler RI were significantly higher for all subgroups of CHD compared with control subjects (0.68 ± 0.11 in control subjects compared with 0.78 ± 0.13 in HLHS, P = 0.03; 0.77 ± 0.10 in SV-RVOTO, P = 0.002; 0.78 ± 0.13 in 2V, P = 0.03; and 0.80 ± 0.14 in TGA; P = 0.001) with the highest average MCA RI in the TGA group. In subgroup analyses, placental fetal vascular malperfusion in the 2V group was associated with higher MCA RI, but this relationship was not present in other subgroups, nor in regards to maternal vascular malperfusion. Major forms of CHD are associated with significantly higher cerebral artery RI postnatally, but placental vascular malperfusion lesions may not contribute to this hemodynamic adaptation. [ABSTRACT FROM AUTHOR]

Background: Patent ductus arteriosus is a common congenital heart defect among preterm neonates. Preterm newborns with prolonged ductal patency have been linked to considerable short- and long-term morbidities, as well as higher mortality; however, systematic treatment of everyone during the neonatal period has resulted in a detectable improvement in long-term results. COX inhibitors like Indomethacin and Ibuprofen are approved for PDA closure in preterm neonates. This study compares the efficacy and safety of IV Paracetamol and oral Ibuprofen in preterm and term neonates with HsPDA. Material and Methods: This is an open-label randomized study that was conducted on preterm and term neonates with HsPDA at the NICU of the Government Thoothukudi Medical College among 104 neonates. In total 104 neonates were examined, 52 of whom received 15mg/kg/q6hr of intravenous paracetamol for 3 days, and 52 neonates received 10mg/kg oral ibuprofen on the first day, 5 mg/kg for the next 2 days. The clinical and echocardiography findings were compared. Non-constricted neonates after the first course were subjected to the same drugs for the second course. The closure and constriction rates were studied using echocardiography. Results: Out of 52 neonates in both groups, 38 neonates(73.07%) had closure of PDA in the paracetamol group vs 42 neonates(80.7%) had closure of PDA in the ibuprofen group. There is no significant difference in closure rate between intravenous paracetamol vs oral ibuprofen after 2 courses of treatment. Conclusion: Intravenous paracetamol had a similar efficacy compared to oral ibuprofen for PDA closure in preterm and term neonates. Intravenous Paracetamol is a safe and effective alternative for PDA closure when compared with Ibuprofen. [ABSTRACT FROM AUTHOR]

Aim: This nationwide study evaluated the clinical impact that an early thymectomy, during congenital heart defect (CHD) surgery, had on the health of children and adolescents. Methods: The subjects were patients aged 1–15 years who had undergone CHD surgery at the University Children's Hospital, Helsinki, where all CHD surgery in Finland is carried out, from 2006 to 2018. The parents or the cases and population‐based controls, matched for sex, age and hospital district, completed electronic questionnaires. We excluded those with low birth weights or a known immunodeficiency. Adjusted odds ratios (aOR) and 95% confidence intervals (CI) were calculated for prespecified outcomes. Results: We received responses relating to 260/450 (58%) cases and 1403/4500 (31%) controls and excluded 73 cases with persistent cardiac or respiratory complaints after surgery. The CHD group reported more recurrent hospitalisations due to infections (aOR 6.3, 95% CI 3.0–13) than the controls and more pneumonia episodes (aOR 3.5, 95% CI 2.1–5.6), asthma (aOR 2.5, 95% CI 1.5–4.1) and wheezing (aOR 2.1, 95% CI 1.5–2.9). Conclusion: Hospitalisation due to infections, pneumonia, wheezing and asthma was more common in children after a thymectomy due to open‐heart surgery than population‐based controls, underlining the importance of immunological follow‐ups. [ABSTRACT FROM AUTHOR]

Clinical data: Female, seven years old, referred to our service complaining about congestive heart failure symptoms due to mitral valve regurgitation and atrial septal defect. Technical description: Echocardiographic findings compatible with Barlow’s disease and atrial septal defect, ostium secundum type. Operation: She was submitted to mitral valvuloplasty with chordal shortening and prosthetic posterior ring (Gregori-Braile®) along with patch atrioseptoplasty. Comments: Mitral valve regurgitation is a rare congenital heart disease and Barlow’s disease is probably rarer. Mitral valve repair is the treatment of choice. [ABSTRACT FROM AUTHOR]

Introduction5p deletion syndrome, also called Cri-du-chat syndrome 5p is a rare genetic syndrome with reports up to 36% of patients are associated with congenital heart defects. We investigated the association between left outflow tract obstruction and Cri-du-chat syndrome.MethodsA retrospective review of the abnormal microarray cases with congenital heart defects in Children’s Hospital of Pittsburgh and the Cytogenomics of Cardiovascular Malformations Consortium.ResultsA retrospective review at nine pediatric centers identified 4 patients with 5p deletions and left outflow tract obstruction (LVOTO). Three of these patients had additional copy number variants. We present data suggesting an association of LVOTO with 5p deletion with high mortality in the presence of additional copy number variants.ConclusionA rare combination of 5p deletion and left ventricular outflow obstruction was observed in the registry of copy number variants and congenital heart defects.

Abstract The main objective of this study was to investigate the incidence and characteristics of electrocardiographic abnormalities in patients with microtia, and to explore cardiac maldevelopment associated with microtia. This retrospective study analyzed a large cohort of microtia patients admitted to Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, from September 2017 to August 2022. The routine electrocardiographic reports of these patients were reviewed to assess the incidence and characteristics of abnormalities. The study included a total of 10,151 patients (5598 in the microtia group and 4553 in the control group) who were admitted to the Plastic Surgery Hospital of Peking Union Medical College. The microtia group had a significantly higher incidence of abnormal electrocardiographies compared to the control group (18.3% vs. 13.6%, P

Background. There is quite a high number of patients with advanced heart failure (HF) who have undergone surgical treatment for complex congenital heart defects. Implantation of mechanical circulatory support systems is the only treatment option for patients with refractory end-stage heart failure. Only a few centers have experience in implantation of ventricular assist devices (VAD) in children, which is a major challenge for modern pediatric cardiac surgery. Objective: to present our first experience of implantation of HeartMate III VADs in patients after surgical correction of complex congenital heart defects. Materials and methods. From 2021 to 2022, at Bakulev Center for Cardiovascular Surgery, four HeartMate III systems were implanted in children with advanced HF, who had previously undergone surgery for a complex congenital heart defect. In one case, aortic valve implantation was carried out simultaneously with VAD implantation. Results. All patients were discharged from the center. One patient developed right-sided heart failure intraoperatively, which required the use of a right ventricular assist device (RVAD) for 8 days. There were no complications from the central nervous system, bleeding, pump thrombosis, or infection. Conclusion. HeartMate III can be implanted in patients with body weight ≥21 kg and BSA ≥0.88 m2 . Children’s tolerance to physical activity increases, they are fully adapted socially, and can attend school.

BackgroundCongenital heart defects (CHDs) affect approximately half of individuals with Down syndrome (DS), but the molecular reasons for incomplete penetrance are unknown. Previous studies have largely focused on identifying genetic risk factors associated with CHDs in individuals with DS, but comprehensive studies of the contribution of epigenetic marks are lacking. We aimed to identify and characterize DNA methylation differences from newborn dried blood spots (NDBS) of DS individuals with major CHDs compared to DS individuals without CHDs.MethodsWe used the Illumina EPIC array and whole-genome bisulfite sequencing (WGBS) to quantitate DNA methylation for 86 NDBS samples from the California Biobank Program: (1) 45 DS-CHD (27 female, 18 male) and (2) 41 DS non-CHD (27 female, 14 male). We analyzed global CpG methylation and identified differentially methylated regions (DMRs) in DS-CHD versus DS non-CHD comparisons (both sex-combined and sex-stratified) corrected for sex, age of blood collection, and cell-type proportions. CHD DMRs were analyzed for enrichment in CpG and genic contexts, chromatin states, and histone modifications by genomic coordinates and for gene ontology enrichment by gene mapping. DMRs were also tested in a replication dataset and compared to methylation levels in DS versus typical development (TD) WGBS NDBS samples.ResultsWe found global CpG hypomethylation in DS-CHD males compared to DS non-CHD males, which was attributable to elevated levels of nucleated red blood cells and not seen in females. At a regional level, we identified 58, 341, and 3938 CHD-associated DMRs in the Sex Combined, Females Only, and Males Only groups, respectively, and used machine learning algorithms to select 19 Males Only loci that could distinguish CHD from non-CHD. DMRs in all comparisons were enriched for gene exons, CpG islands, and bivalent chromatin and mapped to genes enriched for terms related to cardiac and immune functions. Lastly, a greater percentage of CHD-associated DMRs than background regions were differentially methylated in DS versus TD samples.ConclusionsA sex-specific signature of DNA methylation was detected in NDBS of DS-CHD compared to DS non-CHD individuals. This supports the hypothesis that epigenetics can reflect the variability of phenotypes in DS, particularly CHDs.

Introduction: Neurological impairment is a big concern in the development of patients with congenital heart defects (CHD). A number of neuromarkers have been studied in search of a diagnostic or prognostic marker for brain injury during the vulnerable perioperative period. Our aim was to assess two novel neuromarkers, myelin basic protein (MBP) and protein Tau (pTau), as diagnostic markers for brain injury in perioperative period in children with CHD. Methods: Forty patients were enrolled and dichotomized based on peripheric oxygen saturation in cyanotic and non-cyanotic group. Blood samples were collected preoperative, after the induction of anesthesia, and in postoperative day 1. Neuromarker concentrations were measured using commercially available ELISA kits. Results: Neuromarkers' values were increased postoperative, with statistical significance reached only in non-cyanotic group (p < 0.0001). A significant positive correlation was observed between preoperatory MBP and albumin level, hemoglobin level, height, and weight of patients. Association with cerebral saturations were analyzed by a coefficient defined as ≥ 20% reduction in cerebral saturation measured by near-infrared spectroscopy during perioperative period. An acceptable predicting model was observed with pTau in cyanotic group (AUC = 0.7). Conclusion: We evaluated MBP and pTau as potential biomarkers of brain injury in children with CHD undergoing cardiac surgery. Elevated postoperative pTau and MBP concentrations were observed in both groups. Elevated pTau values were associated with perioperative hypoxemia. [ABSTRACT FROM AUTHOR]

Background: Conflicting data exist on the occurrence and outcome of infective endocarditis (IE) after pulmonary valve implantation. Objectives: This study sought to assess the differences between transcatheter pulmonary valve implantation (TPVI) and surgical pulmonary valve replacement (SPVR). Methods: All patients ≥ 4 years who underwent isolated pulmonary valve replacement between 2005 and 2018 were analyzed based on the data of a major German health insurer (≈9.2 million insured subjects representative of the German population). The primary endpoint was a composite of IE occurrence and all-cause death. Results: Of 461 interventions (cases) in 413 patients (58.4% male, median age 18.9 years [IQR 12.3–33.4]), 34.4% underwent TPVI and 65.5% SPVR. IE was diagnosed in 8.0% of cases during a median follow-up of 3.5 years. Risk for IE and all-cause death was increased in patients with prior IE (p < 0.001), but not associated with age (p = 0.50), sex (p = 0.67) or complexity of disease (p = 0.59). While there was no difference in events over the entire observational time period (p = 0.22), the time dynamics varied between TPVI and SPVR: Within the first year, the risk for IE and all-cause death was lower after TPVI (Hazard Ratio (HR) 95% CI 0.19 (0.06–0.63; p = 0.006) but increased over time and exceeded that of SPVR in the long term (HR 10.07 (95% CI 3.41–29.76; p < 0.001). Conclusions: Patients with TPVI appear to be at lower risk for early but higher risk for late IE, resulting in no significant difference in the overall event rate compared to SPVR. The results highlight the importance of long-term specialized care and preventive measures after both interventions. [ABSTRACT FROM AUTHOR]

The purpose of the study is to assess the risks of neurodevelopmental morbidity among preterm and growth restricted youth with congenital heart defects (CHD). This systematic review and meta-analysis included observational studies assessing neurodevelopmental outcomes among children with CHD born preterm (i.e., before 37 weeks of gestation) or growth restricted (small-for-gestational age (SGA) with a birthweight < the 10th percentile or with low birthweight (LBW) < 2500 g). Studies were identified in Medline and Embase databases from inception until May 2022, with data extracted by two blinded reviewers. Risk of bias was assessed using the Critical Appraisal Skills Programme cohort checklist. Meta-analysis involved the use of random-effects models. Main outcome measures were neurodevelopmental outcomes including overall cognitive impairment and intellectual disability, IQ, communication, and motor skills scores. From 3573 reports, we included 19 studies in qualitative synthesis and 6 meta-analysis studies. Risk of bias was low in 8/19 studies. Cognitive impairment and intellectual disability were found in 26% (95% CI 20–32, I2 = 0%) and 19% (95% CI 7–35, I2 = 82%) of preterm children with CHD, respectively. Two studies documented a lower IQ score for SGA children who underwent CHD operations in comparison to non-SGA children who also underwent CHD operations. Two studies have reported lower IQ, communication, and motor skills in children with hypoplastic left heart syndrome (HLHS) and low birth weight compared to those with HLHS and expected birth weight. Conclusions: Based on a low level of evidence, prematurity and/or growth retardation appear to accentuate specific neurodevelopmental outcomes in certain CHD subgroups. Further evidence is needed to confirm these findings. Trial registration: PROSPERO [CRD42020201414]. What is Known: • Children born with CHD, preterm birth, or growth restriction at birth are independently at higher risk for neurodevelopmental impairment. • The additional effect of preterm birth and/or growth restriction on neurodevelopmental outcomes in children with CHD remains unclear. What is New: • Prematurity and/or growth retardation appear to accentuate specific neurodevelopmental outcomes in certain CHD subgroups. • Children with CHD, particularly those born preterm or with growth restriction, should undergo lifelong systematic comprehensive neurodevelopmental assessment. [ABSTRACT FROM AUTHOR]

Objectives: Fetal premature atrial contractions (PAC) are usually benign but may be associated with congenital heart defect (CHD) and tachyarrhythmia, which in turn carry a risk of cardiac failure and fetal death. We aimed to explore the frequency of adverse outcome and to identify risk factors for tachyarrhythmia in pregnancies complicated by fetal PAC. Methods: This was a retrospective cohort study of fetuses diagnosed with PAC at two academic centers in Amsterdam, The Netherlands, between 2007 and 2022. Cases with a congenital anomaly and those with a prior diagnosis of CHD or other arrhythmias were excluded. M‐mode and Doppler tracings were reanalyzed and the frequency of PAC was recorded. The incidence of the following adverse outcomes was examined: underlying CHD not identified at the 20‐week fetal anomaly scan, tachyarrhythmia, other arrhythmia, administration of antiarrhythmic therapy and death. Risk factors for tachyarrhythmia were analyzed using odds ratios (OR). Results: In 24.1% of 1439 referred cases, PAC resolved before confirmation at the fetal medicine unit (FMU). Of the 939 included cases with confirmed PAC, the total incidence of adverse outcome was 6.8% (64/939). CHD was diagnosed in 14 (1.5% (95% CI, 0.9–2.5%)) cases, of which eight were diagnosed prenatally and six postnatally. Compared with baseline, the incidence of CHD was higher in the presence of fetal PAC (OR, 1.8 (95% CI, 1.0–3.3); P = 0.034). Tachyarrhythmia occurred prenatally and/or postnatally in 32 (3.4%) cases, of which eight (25.0%) showed signs of cardiac failure, and in 23 (71.9%) cases, antiarrhythmic therapy was required. No cases of tachyarrhythmia led to fetal or infant death. Risk factors for tachyarrhythmia were PAC with short runs of supraventricular tachycardia (OR, 98.7), blocked PAC (OR, 30.3), PAC in bigeminy (OR, 21.8), frequent PAC (one per 5–10 beats) (OR, 6.9), signs of cardiac failure (OR, 14.2) and the presence of a foramen ovale aneurysm (OR, 5.0). Conclusions: PAC are generally benign and often resolve spontaneously. However, fetuses with an irregular heart rhythm should be referred for advanced ultrasonography, which should focus on classifying the type of PAC and risk of adverse outcome. When risk factors for tachyarrhythmia are identified, weekly fetal heart‐rate monitoring is advised until resolution of the PAC. In the absence of risk factors, standard obstetric care may be sufficient, with additional instructions to report reduced fetal movements. Should tachyarrhythmia or cardiac failure develop, referral back to the FMU is indicated. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. [ABSTRACT FROM AUTHOR]

Background: Congenital heart defects (CHD) are still associated with an increased morbidity and mortality. The aim of this study was to analyze trends of mortality rates in patients with CHD between 1998 and 2018 in Germany. Methods: Data of registered deaths with an underlying diagnosis of CHD were used to evaluate annual mortality between 1998 and 2018. Polynomial regressions were performed to assess annual changes in CHD-associated mortality rates by age groups. Results: During the 21-year study period, a total of 11,314 deaths were attributed to CHD with 50.9% of deaths in infants (age < 1 year) and 28.2% in neonates (age ≤ 28 days). The most frequent underlying CHDs associated with death were hypoplastic left heart syndrome (n = 1498, 13.2%), left ventricular outflow tract obstruction (n = 1009, 8.9%), atrial septal defects (n = 771, 6.8%), ventricular septal defects (n = 697, 6.2%), and tetralogy of Fallot (n = 673, 5.9%), and others (n = 6666, 58.9%). Among all patients, annual CHD-related mortality rates declined significantly between 1998 and 2010 (p < 0.0001), followed by a significant annual increase until 2018 (p < 0.0001). However, mortality rates in 2018 in all ages were significantly lower than in 1998. Conclusion: Mortality in CHD patients decreased significantly between 1998 and 2010, but a substantial number of deaths still occurred and even significantly increased in the last 3 years of the observation period particularly in neonates and infants. This renewed slight increase in mortality rate during the last years was influenced mainly by high-risk neonates and infants. Assessment of factors influencing the mortality rate trends in association with CHD in Germany is urgently needed. Obligatory nationwide registration of death cases in relation to surgical and catheter interventions in CHD patients is necessary to provide additional valuable data on the outcome of CHD. [ABSTRACT FROM AUTHOR]

Background and Aims Cardiopulmonary fitness in congenital heart disease (CHD) decreases faster than in the general population resulting in impaired health-related quality of life (HRQoL). As the standard of care seems insufficient to encourage and maintain fitness, an early hybrid cardiac rehabilitation programme could improve HRQoL in CHD. Methods The QUALIREHAB multicentre, randomized, controlled trial evaluated and implemented a 12-week centre- and home-based hybrid cardiac rehabilitation programme, including multidisciplinary care and physical activity sessions. Adolescent and young adult CHD patients with impaired cardiopulmonary fitness were randomly assigned to either the intervention (i.e. cardiac rehabilitation) or the standard of care. The primary outcome was the change in HRQoL from baseline to 12-month follow-up in an intention-to-treat analysis. The secondary outcomes were the change in cardiovascular parameters, cardiopulmonary fitness, and mental health. Results The expected number of 142 patients was enroled in the study (mean age 17.4 ± 3.4 years, 52% female). Patients assigned to the intervention had a significant positive change in HRQoL total score [mean difference 3.8; 95% confidence interval (CI) 0.2; 7.3; P =.038; effect size 0.34], body mass index [mean difference −0.7 kg/m2 (95% CI −1.3; −0.1); P =.022; effect size 0.41], level of physical activity [mean difference 2.5 (95% CI 0.1; 5); P =.044; effect size 0.39], and disease knowledge [mean difference 2.7 (95% CI 0.8; 4.6); P =.007; effect size 0.51]. The per-protocol analysis confirmed these results with a higher magnitude of differences. Acceptability, safety, and short-time effect of the intervention were good to excellent. Conclusions This early hybrid cardiac rehabilitation programme improved HRQoL, body mass index, physical activity, and disease knowledge, in youth with CHD, opening up the possibility for the QUALIREHAB programme to be rolled out to the adult population of CHD and non-congenital cardiac disease. [ABSTRACT FROM AUTHOR]

Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype–phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the KMT2D gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic KMT2D variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype–phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with KMT2D mutations are left-sided obstructive lesions and septal defects. [ABSTRACT FROM AUTHOR]

NKAP mutations are associated with Hackmann‐Di Donato‐type X‐linked syndromic intellectual developmental disorder (MRXSHD, MIM: #301039). Here, we elucidate the potential prenatal manifestation of NKAP mutation‐associated disorder for the first time, alongside revealing the relationship between NKAP mutations and congenital heart defect (CHD) in the Chinese population. An NKAP mutation (NM_024528.4: c.988C>T, p.Arg330Cys) was identified in two foetuses presenting with CHD. Subsequent mechanistic exploration revealed a marked downregulation of NKAP transcription within HEK293T cells transfected with NKAP p.R330C. However, no significant change was observed at the protein level. Moreover, the mutation led to a dysregulation in the transcription of genes associated with cardiac morphogenesis, such as DHRS3, DNAH11 and JAG1. Additionally, our research determined that NKAP p.R330C affected Nkap protein intra‐nuclear distribution, and binding with Hdac3. Summarily, our study strengthens NKAP mutations as a cause of CHD and prompts the reclassification of NKAP p.R330C as likely pathogenic, thereby establishing a prospective prenatal phenotypic spectrum that provides new insight into the prenatal diagnosis of CHD. Our findings also provide evidence of NKAP p.R330C pathogenicity and demonstrate the potential mechanism by which p.R330C dysregulates cardiac developmental gene transcription by altering Nkap intra‐nuclear distribution and obstructing the interaction between Nkap and Hdac3, thereby leading to CHD. [ABSTRACT FROM AUTHOR]

Introduction: The anatomically correct chordae tendineae originate from the apical part of the papillary muscles of the ventricles and attach to the corresponding free margins of the atrioventricular valves. Together with the papillary muscles, they contribute to the effective contraction of the ventricles, creating the so-called "annular-ventricular continuity". Aim of the research: This publication aimed to evaluate and analyse the impact of chordae tendineae pathology of the atrioventricular valves on the clinical presentation of a patient. Material and methods: A systematic review of the literature was performed in the PubMed, Web of Science, and Scopus databases and according to the PRISMA guidelines (Preferred Reporting Items for Systematic Reviews and Meta-Analyses). Results and conclusions: This review allowed us to distinguish 6 groups of characteristic pathological lesions of chordae tendineae such as thickening, elongation, shortening, fibrosis, complete absence, or histopathological changes of the chordae tendineae. Most of the cases resulted from congenital underlying diseases, and treatment mainly consisted of surgical correction.. [ABSTRACT FROM AUTHOR]

Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are relatively common congenital heart defects. Pathogenic variants in PRDM6, which encodes a smooth‐muscle‐cell‐specific transcription factor, have now been etiologically associated with non‐syndromic PDA. We present three patients with PDA and CoA found to harbor PRDM6 variants, including a novel, likely‐pathogenic variant. [ABSTRACT FROM AUTHOR]

Key Clinical Message Anomalous origin of right pulmonary artery from the ascending aorta is a rare congenital heart malformation that results in early infant mortality. These patients are at risk for the early development of significant pulmonary hypertension. The surgical management during the early period of life is imperative. Abstract Anomalous pulmonary artery originating from the ascending aorta (often called hemitruncus) is a rare congenital cardiac defect requiring immediate management in the neonatal period. We report a case of a rare variant of anomalous right pulmonary artery originating from the ascending aorta in combination with pulmonary atresia and tetralogy of Fallot. The above‐mentioned combination makes the surgical management of such cardiac defect exceedingly demanding.

Double connection of partial anomalous pulmonary venous return is a very rare congenital anomaly where at least one pulmonary vein, but not all, drains into the left atrium and systemic venous circulation with subsequent left to right shunt.

Objectives: Early extubation applications after pediatric congenital heart surgery have increased in recent years because of the positive results of these studies. It remains controversial whether early extubation should be performed in the operating room or in the intensive care unit. In addition, there are differences between hospitals in early extubation practices after pediatric cardiac surgery. In this study, we aimed to contribute to the literature by presenting our first 12 cases of infants extubated in the operating room after congenital heart surgery. Materials and Methods: Between May 2022 and December 2022, this study included the first 12 infant patients aged ≤1 year who underwent congenital heart surgery and were early extubate in the operating room. Results: The cohort comprised 6 girls and 6 boys, with an 11-month-old male patient presenting with pulmonary hypertension. Seven patients underwent cardiopulmonary bypass, with temperatures set at 32 °C for 4 patients and 34 °C for 3 patients. No respiratory problems occurred in the patients. None of the infants required non-invasive ventilation. There was no need for reintubation in the early or late period. Conclusion: Our findings suggest that a significant proportion of infant patients can be safely extubate in the operating room following congenital heart surgery. Early extubation offers the potential to decrease the need for sedation and inotropes, thereby averting complications associated with mechanical ventilation.

Abstract Background The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especially copy number variants (CNVs) leading to CHDs are somewhat diverse among different prenatal cohort studies. In this study, a total of 1118 fetuses with confirmed CHDs were recruited from three units over a 5-year period, composing 961 of singleton pregnancies and 157 of twin pregnancies. We performed chromosomal microarray analysis on all cases to detect numerical chromosomal abnormalities (NCAs) and pathogenic/likely pathogenic CNVs (P/LP CNVs) and employed whole-exome sequencing for some cases without NCAs and P/LP CNVs to detect P/LP sequence variants (P/LP SVs). Results Overall, NCAs and P/LP CNVs were identified in 17.6% (197/1118) of cases, with NCA accounting for 9.1% (102/1118) and P/LP CNV for 8.5% (95/1118). Nonisolated CHDs showed a significantly higher frequency of NCA than isolated CHD (27.3% vs. 4.4%, p