Complex Congenital Heart Defects Research Articles

A Low-Cost Workflow to Generate Virtual and Physical Three-Dimensional Models of Cardiac Structures.

Three-dimensional modeling and printing (3DMP) of anatomical structures from cross-sectional imaging data can enhance the understanding of spatial relationships in complex congenital heart defects. Partially due to the substantial financial, material and personnel resources required, 3DMP is not yet universally used. Here, we describe a workflow that addresses and eliminates these drawbacks. The workflow utilizes the open-source software "3D Slicer" (The Slicer Community) and "Blender" (Blender Foundation) for segmentation and post-editing of datasets. This approach enables the generation of virtual or physical 3D models. The physical models are printed using a standard fused deposition modeling printer. The financial challenges that likely constrain the wider use of 3DMP are largely addressed by this approach. However, the workflow still requires a considerable amount of time to manually segment the imaging data. Three-dimensional modeling and printing might improve planning and safety of congenital cardiac surgical treatment. Furthermore, it is a useful tool for education of parents and medical professionals. This workflow increases its suitability for routine use also in regions with low economic resources.

Comparing assisting technologies for proficiency in cardiac morphology: 3D printing and mixed reality versus CT slice images for morphological understanding of congenital heart defects by medical students.

Learning cardiac morphology largely involves spatial abilities and studies indicate benefits from innovative 3D visualization technologies that speed up and increase the learning output. Studies comparing these teaching tools and their educational output are rare and few studies include complex congenital heart defects. This study compared the effects of 3D prints, mixed reality (MR) viewing of 3D meshes and standard cardiac CT slice images on medical students' understanding of complex congenital heart defect morphology, measuring both objective level of understanding and subjective educational experience. The objective of this study was to compare morphological understanding and user experiences of 3D printed models, MR 3D visualization and axial 2D CT slices, in medical students examining morphological details in complex congenital heart defects. Medical students in the median 4th year of study (range 2nd to 6th) examined three of five different complex congenital heart defects by three different modalities: 3D printed model, MR viewed 3D mesh, and cardiac CT slices, answering a questionnaire on morphology and user experience. Time to complete task, diagnostic accuracy, and user experience data were collected and compared on group level. Task times were similar for all modalities. The percentage of correct answers was higher with MR visualization, which was also the preferred modality overall. Medical students both prefer and better understand the morphology of complex congenital heart disease with 3D models viewed using MR, without spending more time than with 3D prints or 2D CT images.

Cortical Alterations Associated with Executive Function Deficits in Youth with a Congenital Heart Defect

Abstract Adolescents and young adults born with a complex congenital heart defect (CHD) are at risk for executive function (ExF) impairments, which contribute to the psychological and everyday burden of CHD. Cortical dysmaturation has been well described in fetuses and neonates with CHD and early evidence suggests that cortical alterations in thickness, surface area, and gyrification index are non-transient and can be observed in adolescents with CHD. However, cortical alterations have yet to be correlated with ExF deficits in youth with CHD. This study aims to use a data-driven approach to identify the most important cortical features associated with ExF deficits in adolescents and young adults with CHD. To do so, we combined two comparable datasets acquired at the Research Institute of the McGill University Health Centre and the University Children’s Hospital Zurich each including both youth with CHD and healthy controls. For each participant, a high-resolution T1-weighted magnetic resonance image, a self-reported ExF assessment (the Behaviour Rating Inventory of Executive Function— Adult Scale), and their clinical and demographic characteristics were available. Corticometric Iterative Vertex-Based Estimation of Thickness (CIVET) was used to extract cortical thickness, cortical surface area, and local gyrification index measures. Using orthogonal projective non-negative matrix factorization (OPNMF), we identified non-overlapping spatial components that integrate cortical thickness, cortical surface area, and local gyrification index and capture structural covariance across these features. Behavioural partial least squares correlation (bPLS) analysis was then used to compute correlations between the individual variability in the OPNMF covariance patterns and ExF outcomes for each subject. A total of 56 youth with CHD who underwent cardiopulmonary bypass surgery before three years of age and 56 age- and sex-matched healthy controls were included in our analyses. Cortical grey matter volume, cortical thickness, and cortical surface area were found to be significantly reduced in CHD patients compared to controls. OPNMF identified 12 stable cortex-wide components summarizing the inter-subject variability in cortical thickness, cortical surface area, and local gyrification index. bPLS revealed two significant latent variables (LV) accounting for a total of 82.8% of the variance in the sample, each describing distinct patterns between the brain and cognitive data. LV1 summarized a pattern of belonging to the CHD group, worse scores on most BRIEF-A scales, younger age at MRI, and female sex. This pattern was associated with increased cortical thickness, local gyrification index, and decreased cortical surface area in several OPNMF components. Finally, we identified a positive relationship between the LV1 brain-behaviour pattern and total aortic cross-clamp time in the CHD group, indicating that longer aortic cross-clamp time was associated with worse neurodevelopmental outcomes. In this study, we uncover novel multivariate relationships between ExF and alterations in cortical thickness, surface area, and local gyrification index in adolescents and young adults with CHD using a data-driven approach. Although our findings highlight the important role played by the cortex in higher order cognitive processes, future studies are needed to elucidate the individual contribution of individual and clinical attributes into the deficits observed in this population.

Arrhythmia burden in patients with congenital heart disease

Abstract Background The prevalence of congenital heart defects (CHD) is rising. Many patients experience arrhythmias either due to the defect itself or necessary intervention. Sudden onset of arrhythmia poses grave risks such as heart failure, stroke, or cardiac death. Research gaps exist regarding high-risk defects, age susceptibility, and prognostic implications of arrhythmia. Purpose Delineate the burden of arrhythmias in patients with CHD. Methods Patients born in the period 1970-2017 and diagnosed with CHD were identified in Swedish nationwide medical registries. Each patient was matched by birthyear and sex with ten controls from the general population. Cox proportional hazard regression model and Fine-Gray regression model with death as competing risk were used to compute risk (hazard ratio [HR]) and cumulative incidence of arrhythmias (supraventricular and ventricular arrhythmias). Estimates were compared with the matched controls. Follow-up started at time of birth. Results We included 63,559 patients and 583,205 matched controls with median follow-up of 12.8 years. Almost two-thirds of the total CHD population were born after year 2000 and 89% (n=56,564) had a simple lesion (defined as atrial or ventricular septal defect, coarctation of the aorta or malformation of the heart valves). During follow-up, 1,632 events of arrhythmia (90% of supraventricular origin) were registered in the population of patients with CHD, yielding an incidence rate of 16.4 per 10,000 person-years (versus 1.6 in the control population). The cumulative incidence of arrhythmias in the total CHD population was slightly increased during childhood compared with the control population, but rose significantly hereafter, illustrated in Figure 1, yielding an overall risk of 10.5 (CI 95%: 9.8-11.2). Stratified by lesion severity, the risk for arrhythmias was 8.7 (CI 95%: 7.6-8.7) and 30.4 (CI 95%: 26.2-35.2) in patients with simple and complex lesions, respectively. Patients with simple CHD lesions displayed a risk of 7.7 (95% CI: 7.1-8.4) for supraventricular arrhythmias and 11.5 (95% CI: 9.2-14.5) for ventricular arrhythmias. Correspondingly, patients with complex CHD lesions displayed risks of 66.7 (95% CI: 42.7-104.2) and 28.9 (95% CI: 24.8-33.6). Conclusion Arrhythmias, irrespective of origin, are common in patients with CHD and correlate with lesion severity. The overall burden of arrhythmias increased significantly after childhood. Meticulous follow-up is vital in order to prevent, detect and treat arrhythmias as it might trigger clinical deterioration and even sudden cardiac death in patients with CHD.

Trends in Nutritional Status and Dietary Behavior in School-Aged Children with Congenital Heart Defects.

Background: Malnutrition and poor weight gain has been reported in infants with congenital heart defects (CHDs); however data in older children with CHDs are limited. In order to obtain representative data on the nutritional status, dietary behavior, and potential influencing factors in school-aged children with CHDs, we performed a nationwide online survey. Methods: Patients aged 6 to 17 years registered in the German National Register for CHDs were asked to participate in this study by completing the German Health Interview and Examination Survey for Children and Adolescents (KiGGS) eating study questionnaire in order to assess their self-reported dietary habits. The use of the same questionnaire enabled a comparison with a representative subset of 4569 participants of the KiGGS study. Results: A total of 894 patients (mean age 12.5 ± 3.0 years; 47.2% female) were enrolled. Patients were allocated according to anatomic complexity into simple (23.8%), moderate (37.8%), and complex CHDs (38.4%). The consumption of sugar-containing food (p < 0.001) and fast food (p < 0.05) was significantly lower among the CHD patients than in the healthy children. Children with CHDs showed significantly lower body mass index (BMI) percentiles (p < 0.001) compared with their healthy peers, while children with complex and moderate CHDs had the lowest BMI. While in CHD patients, the BMI percentiles were not related to unhealthy food, there was a strong correlation with the CHD severity and number of previous interventions (p < 0.01). Conclusions: According to this nationwide survey, school-aged children with complex CHD are at risk of undernutrition, which is not due to dietary habits but to CHD severity and repeated surgery.

Congenital Heart Defects as One of the Causes of Perinatal Mortality

Congenital malformations are one of the most common causes of infant mortality and disability in children, and congenital heart defects (CHD) occupy a leading place in the structure of all developmental anomalies. The article presents data from a retrospective analysis of charts of children who died from complex congenital heart defects and congenital heart defects in combination with multiple developmental defects. An analysis of the pathological examination cards of 102 children from 0 to 2 years old who died in maternity hospitals and children's hospitals in Bishkek was carried out. The selection of autopsy cards of children was carried out on the basis of the Republican Pathological Bureau. As a result of pathological studies, changes in the heart and lungs were revealed. At the maternity hospital stage, out of 102 children with severe congenital heart defects, 70 newborns died, which averaged 68.6%. Among congenital heart defects, heart defects with aortopulmonary shunting with pulmonary hypertension predominated — in 45 children (44%), in particular, ventricular septal defect, atrial septal defect, then ductus-dependent heart defects were diagnosed in 25 children (24.5%), which included Tetralogy of Fallot, transposition of the great vessels. 23.5% of children had multiple congenital malformations: in all cases, congenital heart disease was recorded in combination with several malformations, such as an anomaly of the musculoskeletal system with craniofacial dimorphism, anomalies of the gastrointestinal tract and urinary system, and an anomaly of the lungs. The most common association of congenital heart disease with defects of other organs and systems was observed in cases of ventricular septal defect, atrial septal defect, patent ductus arteriosus.

SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia

ABSTRACTHaploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate. In addition, extracraniofacial anomalies may be present, such as skeletal, cardiac renal, and abnormalities of the central nervous system. Variants have been either de novo or inherited, and both inter‐ and intrafamilial variability has been observed. Here we describe a patient referred for exome sequencing for a complex congenital heart defect and Hirschsprung disease found by exome sequencing to be heterozygous for a loss of function variant, c.945dup (p.Val316SerfsTer5), in SF3B2. This variant was inherited from a parent with an isolated cardiac defect. Interestingly, neither have the defining craniofacial features or other dysmorphisms. This report further illustrates the degree of phenotypic variability seen in SF3B2‐related disease and expands the spectrum to include Hirschsprung disease.

Milrinone in pediatric heart failure

Introduction. Heart failure is one of the most dangerous life-threatening conditions in children, requiring complex pathogenetically based treatment aimed at increasing cardiac output.The objective was to analyze publications devoted to assessing the effectiveness and safety of the use of milrinone in critical conditions in children.Materials and methods. The analysis included 60 publications from the PubMed and e-library abstract databases for the period from 2018 to 2023. The search was carried out using the keywords: milrinone, pediatric, neonate, heart failure, acute renal injury, and outcome. After the initial review of the abstracts, 18 articles were excluded from the analysis, if full text was not available or if they did not contain relevant information from a clinical perspective.Results. A significant part of the work is devoted to a comparative analysis of the therapeutic effects of milrinone and levosimendan in the early postoperative period after cardiac surgery in children, the authors of which in most cases believe that these drugs are comparable both in terms of treatment outcomes and side effects. At the same time, the results of a number of studies indicate significant advantages of milrinone, the use of which helps to reduce the level of lactate in the blood, is not accompanied by hypervolemia of the pulmonary circulation, helps to maintain optimal values of average blood pressure and reduce the duration of treatment in the ICU. On the other hand, there is evidence that the use of milrinone in the perioperative period may be associated with an increased need for additional fluid supplementation and an increase in the frequency of deaths after surgery in young children with complex congenital heart defects (CHD). Conclusion. Milrinone is the drug of choice for the treatment of acute heart failure in children with CHD in the early postoperative period and in newborns with persistent pulmonary hypertension.

ENDOTHELIAL-DEPENDENT VASCULAR REACTIVITY AFTER CARDIOPULMONARY BYPASS IS ASSOCIATED WITH UNIQUE METABOLOMIC SIGNATURES.

Cardiopulmonary bypass (CPB), an extracorporeal method necessary for the surgical correction of complex congenital heart defects, incites significant inflammation that affects vascular function. These changes are associated with alterations in cellular metabolism that promote energy production to deal with this stress. Utilizing laser Doppler perfusion monitoring coupled with iontophoresis in patients undergoing corrective heart surgery, we hypothesized that temporal, untargeted metabolomics could be performed to assess the link between metabolism and vascular function. Globally, we found 2,404 unique features in the plasma of patients undergoing CPB. Metabolites related to arginine biosynthesis were the most altered by CPB. Correlation of metabolic profiles with endothelial-dependent (acetylcholine [ACh]) or endothelial-independent (sodium nitroprusside [SNP]) vascular reactivity identified purine metabolism being most consistently associated with either vascular response. Concerning ACh-mediated responses, acetylcarnitine levels were most strongly associated, while glutamine levels were associated with both ACh and SNP responsiveness. These data provide insight into the metabolic landscape of children undergoing CPB for corrective heart surgery and provide detail into how these metabolites relate to physiological aberrations in vascular function.

Establishment of a new human iPSC cell line (UOMi012-A) from a patient with congenital heart defect who has undergone Fontan procedure

Patients born with complex congenital heart defects, not amenable for surgical repair establishing normal bi-ventricular circulation are palliated with the Fontan Circulation (FC). Here, we report new iPSC line from a patient with tricuspid and pulmonary atresia. The patient underwent series of surgeries leading to completion of Fontan circulation at the age of 13yr., and this line was generated when she was 38yr. old. The exact genetic cause of this patient’s congenital heart defect is unknown, and this line will be used for studying molecular and cellular mechanisms responsible for cardiac dysfunction, along with screening for future potential therapeutic avenues.

Research gaps in the neurodevelopmental assessment of children with complex congenital heart defects: a scoping review

BackgroundChildren with congenital heart defects (CHD) are at risk for a range of developmental disabilities that challenge cognition, executive functioning, self-regulation, communication, social-emotional functioning, and motor skills. Ongoing developmental surveillance is therefore key to maximizing neurodevelopmental outcome opportunities. It is crucial that the measures used cover the spectrum of neurodevelopmental domains relevant to capturing possible predictors and malleable factors of child development.ObjectivesThis work aimed to synthesize the literature on neurodevelopmental measures and the corresponding developmental domains assessed in children aged 1−8 years with complex CHD.MethodsPubMed was searched for terms relating to psycho-social, cognitive and linguistic-communicative outcomes in children with CHD. 1,380 papers with a focus on complex CHD that reported neurodevelopmental assessments were identified; ultimately, data from 78 articles that used standardized neurodevelopmental assessment tools were extracted.ResultsThirty-nine (50%) of these excluded children with syndromes, and 9 (12%) excluded children with disorders of intellectual development. 10% of the studies were longitudinal. The neurodevelopmental domains addressed by the methods used were: 53% cognition, 16% psychosocial functioning, 18% language/communication/speech production, and 13% motor development-associated constructs.ConclusionsData on social communication, expressive and receptive language, speech motor, and motor function are underrepresented. There is a lack of research into everyday use of language and into measures assessing language and communication early in life. Overall, longitudinal studies are required that include communication measures and their interrelations with other developmental domains.

High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.

Fibrillin-1 and fibrillin-2, encoded by FBN1 and FBN2, respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families. We performed clinical phenotyping for two newborn infants with complex congenital heart defects. For genetic investigations, we employed next-generation sequencing strategies including whole-genome Single-Nucleotide Polymorphism (SNP) microarray for infant A with valvular insufficiency, aortic sinus dilatation, hydronephrosis, and dysmorphic features, and Trio whole-exome sequencing (WES) for infant B with dextro-transposition of the great arteries (D-TGA) and both parents. Infant A is a term male with neonatal marfanoid features, left-sided hydronephrosis, and complex congenital heart defects including tricuspid regurgitation, aortic sinus dilatation, patent foramen ovale, patent ductus arteriosus, mitral regurgitation, tricuspid regurgitation, aortic regurgitation, and pulmonary sinus dilatation. He developed severe persistent pulmonary hypertension and worsening acute hypercapnic hypoxemic respiratory failure, and subsequently expired on day of life (DOL) 10 after compassionate extubation. Cytogenomic whole-genome SNP microarray analysis revealed a deletion within the FBN1 gene spanning exons 7-30, which overlapped with the exon deletion hotspot region associated with neonatal Marfan syndrome. Infant B is a term male prenatally diagnosed with isolated D-TGA. He required balloon atrial septostomy on DOL 0 and subsequent atrial switch operation, atrial septal defect repair, and patent ductus arteriosus ligation on DOL 5. Trio-WES revealed compound heterozygous c.518C>T and c.8230T>G variants in the FBN2 gene. Zygosity analysis confirmed each of the variants was inherited from one of the parents who were healthy heterozygous carriers. Since his cardiac repair at birth, he has been growing and developing well without any further hospitalization. Our study highlights novel FBN1/FBN2 variants and signifies the phenotype-genotype association in two infants affected with complex congenital heart defects with and without dysmorphic features. These findings speak to the importance of next-generation high-throughput genomics for novel variant detection and the phenotypic variability associated with FBN1/FBN2 variants, particularly in the neonatal period, which may significantly impact clinical care and family counseling.

Hydrops fetalis caused by a complex congenital heart defect with concurrent hypoplasia of pulmonary blood vessels and lungs visualized by micro-CT in a French Bulldog

BackgroundHydrops fetalis (HF) is fluid accumulation in fetus body cavities and subcutaneous tissue. The condition has been described in various farm and companion animal species, including dogs. Most of cases result from a heart defect. Exact nature of this defect is rarely clarified.Case presentationA newborn, male French bulldog puppy with severe HF underwent a full anatomopathological examination to diagnose the primary cause of HF. Based on the anatomopathological examination, fetal ultrasound, and micro-computed tomography, transposition of the great arteries with hypoplasia of the ascending aorta, aortic arch interruption, ostium secundum atrial septal defect, severe tricuspid valve dysplasia, as well as hypoplasia of pulmonary vessels and lungs were diagnosed.ConclusionsThis is the first report of HF caused by severe, complex congenital heart defects with concurrent pulmonary vessel and lung hypoplasia.

Comparison of MYOCYTER and MUSCLEMOTION in the analysis of Induced Pluripotent Stem Cell Derived Cardiomyocyte Contractility

Patient-specific induced pluripotent stem cells (iPSCs) differentiated into cardiomyocytes (CMs) offer tremendous opportunities for cardiac disease modeling and advancements in precision medicine. There is a need for technologies that allow noninvasive and precise measurements of CM function, such as contractility, to increase throughput for drug screening and testing efforts. Hypoplastic Left Heart Syndrome (HLHS) is a rare and complex congenital heart defect characterized by hypoplasia of the left ventricle, proximal aorta, as well as stenosis or atresia of the mitral and/or aortic valves. Previously it was demonstrated that iPSC-CMs from an HLHS patient with a genetic variant in the alpha myosin heavy chain ( MYH6 gene) exhibited an impaired cardiomyocyte phenotype (dysmorphic sarcomere structure, compensatory expression of MYH7, and altered contractility). Gene editing using CRISPR/Cas9 rescued the phenotype, demonstrating the utility of MYH6 iPSC-CMs as a useful disease model for HLHS. Critical parameters of CM function include contraction and relaxation, assessing systolic and diastolic dysfunction, respectively, in iPSC-CMs. The aim of this study is to compare features from two open-source macros for ImageJ: MYOCYTER and MUSCLEMOTION. MYOCYTER improves upon previous plugins available by allowing for users to select parameters. Both methods allow measurement of movement from high-speed movies. MYOCYTER enables the user to select an optimal threshold, size, and cell count to minimize disturbances such as cellular fragments, background noise, and floating bubbles, to maximize precision during analysis. MUSCLEMOTION allows rapid and easy measurement of movement from high- speed videos and can measure and compare relative or absolute parameters. This study will determine whether a systolic or diastolic dysfunction phenotype is observed under different magnification settings and evaluate the effect of dosing with pharmaceutical compounds. Finally, benefits and drawbacks of both macros will be investigated. Children's Research Institute. This is the full abstract presented at the American Physiology Summit 2024 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.

Prenatal Diagnosis of Congenital Heart Disease: The Crucial Role of Perinatal and Delivery Planning.

Although most congenital heart defects (CHDs) are asymptomatic at birth, certain CHD lesions are at significant risk of severe hemodynamic instability and death if emergent cardiac interventions are not performed in a timely fashion. Therefore, accurate identification of at-risk fetuses and appropriate delivery resource planning according to the degree of anticipated hemodynamic instability is crucial. Fetal echocardiography has increased prenatal CHD detection in recent years due to advancements in ultrasound techniques and improved obstetrical cardiac screening protocols, enabling the prediction of newborns' hemodynamic status. This assessment can guide multidisciplinary resource planning for postnatal care, including selection of delivery site, delivery room management, and transport to a cardiac center based on CHD risk severity. This review will discuss fetal cardiovascular physiology and the circulatory changes that occur at the time of and immediately following birth, outline fetal echocardiographic findings used to risk-stratify newborns with CHDs, and outline principles for neonatal resuscitation and initial transitional care in neonates with these complex CHD lesions.

Original Article--Clinical and Procedural Characteristics of Successful Transcatheter Device Closure of Ostium Secundum Atrial Septal Defect in Symptomatic Children Weighing

This retrospective study sought to determine the feasibility of transcatheter atrial septal defect device closure in patients less than 15 kg, as well as to assess complication rates and the reasons for unsuccessful device closure. In general, the risks associated with transcatheter atrial septal defect device closure are believed and reported to be relatively low, but the evidence stems from trials involving adults and older children. Current guidelines do not recommend atrial defect closure in device closure in children <15 kg, due to limited data available for feasibility and safety of device closure in this group of patients. Retrospective review of all patients who underwent elective transcatheter closure of ostium secundum atrial septal defect between September 2013 to February 2022. We excluded all children above 15 kg, as well as those with complex congenital heart defects. Major and minor complications were predefined and indications for referral were evaluated. We identified 81 patients meeting criteria with a median procedural age of 3 years (1 year-8 years), and median weight of 12 kg (4-15 kg). Successful device closure was achieved in 95.1% (77/81) and in 4.9% (4/81), the procedure was aborted. There was 1 major (1.2%) and 1 minor (1.2%) complication, total complication rate (2.4%). 100% of the referrals had right heart enlargement and exertional dyspnoea, 18.5% had recurrent lower respiratory tract infection and 9.9% had failure to thrive. Rate of resolution of residual shunt was 95.1%. at post-procedure day 1 and 98.8% at post-procedure 3 and 6 months respectively. Percutaneous atrial septal defect closure can be done effectively and safely in symptomatic children weighing less than 15 kg in experienced centres. However, deferral for closure until the historically established timeline of around 4-5 years of age should be strongly considered in asymptomatic children.

Regenerating the ailing heart: Stem cell therapies for hypoplastic left heart syndrome.

Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect (CHD) characterized by a spectrum of underdeveloped left-sided cardiac structures. It is a serious defect and warrants either 3-staged surgical palliation or a heart transplant. Despite numerous surgical advancements, long-term outcomes remain challenging and still have significant morbidity and mortality. There have been notable advancements in stem cell therapy for HLHS, including developments in diverse stem cell origins and methods of administration. Clinical trials have shown safety and potential benefits, including improved ventricular function, reduced heart failure, and fewer adverse events. Younger myocardium seems particularly receptive to stem cell signals, suggesting the importance of early intervention. This review explores the potential of emerging stem cell-based therapies as an adjunctive approach to improve the outcomes for HLHS patients.

Transcatheter Resolution of a Failed Neoconfluence in Pulmonary Atresia With Discontinuous Pulmonary Arteries

We present a case of a full-term newborn with complex congenital heart defects, including single-ventricle physiology and discontinuous pulmonary arteries. Prompt surgical intervention was performed, which involved pulmonary neoconfluence with autologous pericardium graft and systemic-to-pulmonary shunt placement. However, postoperative complications required stenting to address pulmonary artery stenosis.

The use of high-resolution SNP arrays to detect congenital cardiac defects

Objective Copy number variations (CNVs) detected by high-resolution single nucleotide polymorphism microarrays (SNP arrays) have been associated with congenital heart defects (CHDs). The genetic mechanism underlying the development of CHDs remains unclear. Methods High-resolution SNP arrays were used to detect CNVs and traditional chromosomal analyses, respectively, were carried out on 60 and 249 fetuses from gestational 12–37 weeks old, having isolated or complex CHDs that were diagnosed using prenatal ultrasound. Results Twenty of the 60 fetuses (33.5%) had abnormalities, of which 23 CNVs (12 pathogenic, five probable pathogenic and six of undetermined significance) were detected by SNP arrays, and two distinct CNVs were present in three of these fetuses. In addition, in 39 patients with isolated congenital heart disease who had normal karyotypes, abnormal CNVs were present in 28.2% (11/39), and in patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. In patients with complex coronary artery disease, 19.0% (4/21) had abnormal karyotypes and 42.9% (9/21) had abnormal CNVs. Conclusions In conclusion, genome-wide high-resolution SNP array can improve the diagnostic rate and uncover additional pathogenic CNVs. The submicroscopic deletions and duplications of Online Mendelian Inheritance in Man (OMIM) genes found in this study have haploinsufficient (deletion) or triplosensitive (duplication) traits, which further clarify the etiology and inheritance of CHDs.

Clinical Presentation and Therapy of Tricuspid Atresia and Univentricular Heart.

Although the terms "single ventricle" and "univentricular heart" are frequently used to describe a variety of complex congenital heart defects, in fact, nearly all hearts have two ventricles, although one of the two may be too small to be functional. A better term for these hearts would therefore be "functional single ventricle."