Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease.

Congenital heart disease (CHD) is the most common birth defect, and up to 50% of infants with CHD require cardiovascular surgery early in life. Current clinical practice often involves thymus resection during cardiac surgery, detrimentally affecting T-cell immunity. However, epidemiological data indicate that CHD patients face an elevated risk for infections and immune-mediated diseases, independent of thymectomy. Hence, we examined whether the cardiac defect impacts thymus function in individuals with CHD. We investigated thymocyte development in 58 infants categorized by CHD complexity. To assess the relationship between CHD complexity and thymic function, we analyzed T-cell development, thymic output, and biomarkers linked to cardiac defects, stress, or inflammation. Patients with highly complex CHD exhibit thymic atrophy, resulting in low frequencies of recent thymic emigrants in peripheral blood, even prior to thymectomy. Elevated plasma cortisol levels were detected in all CHD patients, while high NT-proBNP and IL-6 levels were associated with thymic atrophy. Our findings reveal an association between complex CHD and thymic atrophy, resulting in reduced thymic output. Consequently, thymus preservation during cardiovascular surgery could significantly enhance immune function and the long-term health of CHD patients.

Genetics of anomalies of the kidney and urinary tract with congenital heart disease: A review.

Congenital anomalies of the kidney and urinary tract (CAKUT) and congenital heart disease (CHD) are the most common congenital defects and constitute a major cause of morbidity in children. Anomalies of both systems may be isolated or associated with congenital anomalies of other organ systems. Various reports support the co-occurrence of CAKUT and CHD, although the prevalence can vary. Cardiovascular anomalies occur in 11.2% to 34% of patients with CAKUT, and CAKUT occur in 5.3% to 35.8% of those with CHD. The co-occurrence of genetic factors in both CAKUT and CHD would raise common etiologies including genetics, genetic-environmental interactions, or shared molecular mechanisms and pathways such as NODAL, NOTCH, BMP, WNT, and VEGF. Studies in animal models and humans have indicated a genetic etiology for CHD and CAKUT with hundreds of genes recognized and thousands of entries, found in a catalog of human genetic disorders. There are over 80 CAKUT genes and over 100 CHD genes available for clinical testing. For example, the HNFIB gene accounts for 5% to 31% of reported cases of CAKUT. In view of the association between CAKUT and CHD, a thorough cardiac examination should be performed in patients with CAKUT, and a similar evaluation for CAKUT in the presence of CHD. This will allow early diagnosis and therapeutic intervention to improve the long- term outcome of patients affected, and test for at-risk family members. We present here evidence for an association of anomalies involving the two organ systems, and discuss possible etiologies of targeted genes, their functions, biological processes and interactions on embryogenesis.

Missense mutations in the CITED2 gene may contribute to congenital heart disease.

BACKGROUND: Congenital heart disease (CHD) is a lifelong abnormality present from birth. Multiple studies have shown that mutations in genes involved in heart development could cause congenital heart disease. The CITED2 gene works as a transcription factor in the hypoxic pathway for the development of the heart. Therefore, five CHD types, ventricular septal defect, atrial septal defect, atrioventricular septal defect, tetralogy of fallot, and patent ductus arteriosus, were evaluated by conducting a targeted single nucleotide polymorphism (SNP) analysis of the CITED2 gene variant rs375393125 (T > C). This study aimed to identify the association of CITED2 gene mutations in CHD patients. METHODS: Three hundred fifty samples, 250 from patients and 100 from controls, were collected for this genetic analysis. Allele-specific PCR and gel electrophoresis were used to identify the target missense mutations. The genotypic results of the CHDs were further validated through Sanger sequencing. RESULTS: The frequency of the homozygous mutant (CC) in CHD patients was 48.4%, and of the heterozygous mutant (TC) genotype was 11.4%; these percentages are higher than controls (1%). The control samples had only one heterozygous TC and no homozygous CC genotype. The chi-square value was obtained at 103.9 with a probability of 0.05, more significant than the significance value of 21.03. The odds ratio was 43.7, which is > 1. The calculated value of ANOVA was 11.6, which was more significant than the F critical value of 3.7. As a result of sequencing, the mutant sample of each selected CHD type was found heterozygous or homozygous, and the results were like those obtained through conventional PCR. CONCLUSION: The samples of CHD patients showed mutations. Therefore, the CITED2 gene SNP might be associated with CHD.

Maternal cardiovascular health in early pregnancy and the risk of congenital heart defects in offspring.

BACKGROUND: Congenital heart disease (CHD) is the predominant birth defect. This study aimed to explore the association between maternal cardiovascular health (CVH) and the CHD risk in offspring. METHODS: We used the prospective data from the Fujian Birth Cohort Study, collected from March 2019 to December 2022 on pregnant women within 14 weeks of gestation. Overall maternal CVH was assessed by seven CVH metrics (including physical activity, smoking, sleep duration, body mass index, blood pressure, total cholesterol, and fasting plasma glucose), with each metric classified as ideal, intermediate or poor with specific points. Participants were further allocated into high, moderate and low CVH categories based on the cumulative CVH score. The association with offspring CHD was determined with log-binominal regression models. RESULTS: A total of 19810 participants aged 29.7 (SD: 3.9) years were included, with 7846 (39.6%) classified as having high CVH, 10949 (55.3%) as having moderate CVH, and 1015 (5.1%) as having low CVH. The average offspring CHD rate was 2.52%, with rates of 2.35%, 2.52% and 3.84% across the high, moderate and low CVH categories, respectively (P = 0.02). Adjusted relative risks (RRs) of having offspring CHD were 0.64 (95% CI: 0.45-0.90, P = 0.001) for high CVH and 0.67 (95% CI: 0.48-0.93, P = 0.02) for moderate CVH compared to low CVH. For individual metrics, only ideal total cholesterol was significantly associated with lower offspring CHD (RR: 0.73, 95% CI: 0.59-0.83, P = 0.002). CONCLUSIONS: Pregnant women of high or moderate CVH categories in early pregnancy had reduced risks of CHD in offspring, compared to those of low CVH. It is important to monitor and improve CVH during pre-pregnancy counseling and early prenatal care.

Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells.

Congenital heart disease (CHD) is a leading cause of birth defect-related death. Despite significant advances, the mechanisms underlying the development of CHD are complex and remain elusive due to a lack of efficient, reproducible, and translational model systems. Investigations relied on animal models have inherent limitations due to interspecies differences. Human induced pluripotent stem cells (iPSCs) have emerged as an effective platform for disease modeling. iPSCs allow for the production of a limitless supply of patient-specific somatic cells that enable advancement in cardiovascular precision medicine. Over the past decade, researchers have developed protocols to differentiate iPSCs to multiple cardiovascular lineages, as well as to enhance the maturity and functionality of these cells. With the development of physiologic three-dimensional cardiac organoids, iPSCs represent a powerful platform to mechanistically dissect CHD and serve as a foundation for future translational research.

Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome.

Hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease (CHD) with underdevelopment of left-sided heart structures. While previously uniformly fatal, surgical advances now provide highly effective palliation that allows most HLHS patients to survive their critical CHD. Nevertheless, there remains high morbidity and mortality with high risk of heart failure. As hemodynamic compromise from restricted aortic blood flow has been suggested to underlie the poor LV growth, this suggests the possibility of prenatal fetal intervention to recover LV growth. As such interventions have yielded ambiguous results, the optimization of therapy will require more mechanistic insights into the developmental etiology for HLHS. Clinical studies have shown high heritability for HLHS, with an oligogenic etiology indicated in conjunction with genetic heterogeneity. This is corroborated with the recent recovery of mutant mice with HLHS. With availability-induced pluripotent stem cell (iPSC)-derived cardiomyocytes from HLHS mice and patients, new insights have emerged into the cellular and molecular etiology for the LV hypoplasia in HLHS. Cell proliferation defects were observed in conjunction with metaphase arrest and the disturbance of Hippo-YAP signaling. The left-sided restriction of the ventricular hypoplasia may result from epigenetic perturbation of pathways regulating left-right patterning. These findings suggest new avenues for fetal interventions with therapies using existing drugs that target the Hippo-YAP pathway and/or modulate epigenetic regulation.

Vectorcardiography signs of a failing Fontan: Heart rate, PR interval, RtQRSvm, QRSvm and SPQRS-T angle as noninvasive markers of late Fontan complications and mortality.

BACKGROUND: Limited data exists on interpreting vectorcardiography (VCG) parameters in the Fontan population. OBJECTIVE: The purpose of this study was to demonstrate the associations between ECG/VCG parameters and Fontan failure (FF). METHODS/RESULTS: 107 patients with a Fontan operation after 1990 and without significant ventricular pacing were included. FF and Fontan survival (FS) groups were compared. The average follow-up after Fontan operation was 11.8 years ±7.1 years. 14 patients had FF (13.1%) which was defined as having protein-losing-enteropathy (1.9%), plastic bronchitis (2.8%), Fontan takedown (1.9%), heart transplant (5.6%), NYHA class III-IV (2.8%) or death (0.9%). A 12­lead ECG at last follow up or prior to FF was assessed for heart rate, PR interval, QRS duration, Qtc and left/right sided precordial measures (P-wave, QRS and T-wave vector magnitudes, spatial P-R and QRS-T angles). Transthoracic echocardiogram evaluated atrioventricular valve regurgitation and ventricular dysfunction at FF or last follow up. A cox multivariate regression analysis adjusted for LV dominance, ventricular dysfunction, HR, PR, QTc, Pvm, QRSvm, SPQRST-angle, RtPvm, RtQRSvm and RtTvm. Ventricular dysfunction, increased heart rate and prolonged PR interval were significantly associated to FF at the multivariate analysis. ROC analysis and Kaplan-meier analysis revealed an increased total mortality associated with a heart rate > 93 bpm, PR interval > 155 mv, QRSvm >1.91 mV, RtQRSvm >1.8 mV and SPQRST angle >92.3 mV with p values <0.001 to 0.018. CONCLUSION: We demonstrate the importance of ECG/VCG monitoring in the Fontan population and suggest specific indicators of late complications and mortality.

Narrowing Down the Symptomatology of Isolated Vascular Rings in Children.

Vascular rings may cause respiratory or gastrointestinal symptoms due to compression of the trachea and/or esophagus. Advances in imaging have enabled early detection in asymptomatic patients posing new management dilemmas. Surgery is expected to relieve symptoms, although this has not been well studied. We sought to evaluate the presence and pattern of symptoms associated with vascular rings before surgical intervention and to detail symptom resolution after surgery. A 10-year retrospective review of patients diagnosed with an isolated vascular ring was performed between January 2010 and December 2019. 100 patients were identified; 35 double aortic arch (DAA) and 65 right aortic arch and left ligamentum arteriosum (RALL). 73 patients were symptomatic on presentation; 47 had respiratory, 5 had gastrointestinal, and 21 had both types of symptoms. Surgical repair was performed in 75 patients; 74 were symptomatic. Respiratory symptoms were more likely in patients with preoperative tracheal narrowing (p < 0.001). Moderate-severe respiratory symptoms led to surgery in RALL patients (OR 10.6, p = 0.0001). DAA patients were more likely to undergo surgery (p < 0.001) irrespective of symptom severity. At a median post-surgical follow-up of 4 months, there was a significant reduction in symptom burden (p < 0.001), except for asthma symptoms (p = 0.131). Symptom resolution was not dependent on the vascular ring anatomy (p = 0.331) or the age at operation (p = 0.158). Vascular rings are typically accompanied by respiratory symptoms and less commonly GI symptoms, both of which resolve in most patients after surgery. Those who present predominantly with asthma-like symptoms may not achieve resolution after surgery.

Gut Microbiome in Children with Congenital Heart Disease After Cardiopulmonary Bypass Surgery (GuMiBear Study).

The gut microbiome of infants with congenital heart disease (CHD) undergoing cardiopulmonary bypass surgery (CPB) is at risk of profound alteration. The aim of this study was to examine the gut microbiome pre- and post-bypass surgery to explore potential implications of altered gut biodiversity. A prospective cohort study involving infants with CHD who underwent CPB was performed. Faecal samples were collected from infants alongside the collection of demographic and clinical data in order to examine gut microbiome changes before and after surgery. 16S rRNA sequencing analysis was performed on DNA isolated from stool samples to determine changes in gut microbiome composition. Thirty-three patients were recruited, with samples from thirteen of these available for final analysis. Compared with healthy, matched controls, at a genus level, pre-operative samples for infants with CHD demonstrated a higher relative abundance of Escherichia-Shigella (31% vs 2-6%) and a lower relative abundance of Bifidobacterium (13% vs 40-60%). In post-operative samples, the relative abundance of Escherichia-Shigella (35%), Enterococcus (11%), Akkermansia (6%), and Staphylococcus (5%) were higher than pre-op samples. One infant developed post-operative necrotising-enterocolitis (NEC). They displayed a marked abundance of the Enterococcus (93%) genus pre-operatively. This study demonstrates that infants with CHD have an altered gut microbiome when compared with healthy controls and there might be a possible link between an abundance of virulent species and NEC.

Phenotypic heterogeneity in 22q11.2 deletion syndrome: Copy Number Variants as genetic modifiers for congenital heart disease in a Brazilian cohort.

The clinical heterogeneity in 22q11.2 deletion syndrome (22q11.2DS) underlies complex genetic mechanisms including variants in other regions of the genome, known as genetic modifiers. Congenital heart disease (CHD) is one of the most relevant phenotypes in the syndrome and copy number variants (CNVs) outside the 22q11.2 region could play a role in its variable expressivity. Since those described loci account for a small proportion of the variability, the CNV analysis in new cohorts from different ancestry-based populations constitutes a valuable resource to identify a wider range of modifiers. We performed SNP-array in 117 Brazilian patients with 22q11.2DS, with and without CHD, and leveraged genome-wide CNV analysis. After quality control, we selected 50 CNVs in 38 patients for downstream analysis. CNVs' genetic content and implicated biological pathways were compared between patients with and without CHD. CNV-affected genes in patients with CHD were enriched for several functional terms related to ubiquitination, transcription factor binding sites and miRNA targets, highlighting the complexity of the phenotype's expressivity. Cardiac-related genes were identified in both groups of patients suggesting that increasing risk and protective mechanisms could be involved. These genes and enriched pathways could indicate new modifiers to the cardiac phenotype in 22q11.2DS patients.

The effect of geographic origin and destination on congenital heart disease outcomes: a retrospective cohort study.

BACKGROUND: Congenital heart disease (CHD) is a common and significant birth defect, frequently requiring surgical intervention. For beneficiaries of the Department of Defense, a new diagnosis of CHD may occur while living at rural duty stations. Choice of tertiary care center becomes a function of geography, referring provider recommendations, and patient preference. METHODS: Using billing data from the Military Health System over a 5-year period, outcomes for beneficiaries age < 10 years undergoing CHD surgery were compared by patient origin (rural versus urban residence) and the distance to treatment (patient's home and the treating tertiary care center). These beneficiaries include children of active duty, activated reserves, and federally activated National Guard service members. Analysis of the outcomes were adjusted for procedure complexity risk. Treatment centers were further stratified by annual case volume and whether they publicly reported results in the society of thoracic surgery (STS) outcomes database. RESULTS: While increasing distance was associated with the cost of admission, there was no associated risk of inpatient mortality, one year mortality, or increased length of stay. Likewise, rural origination was not significantly associated with target outcomes. Patients traveled farther for STS-reporting centers (STS-pr), particularly high-volume centers. Such high-volume centers (> 50 high complexity cases annually) demonstrated decreased one year mortality, but increased cost and length of stay. CONCLUSIONS: Together, these findings contribute to the national conversation of rural community medicine versus regionalized subspecialty care; separation of patients between rural areas and more urban locations for initial CHD surgical care does not increase their mortality risk. In fact, traveling to high volume centers may have an associated mortality benefit.

Genome Editing and Myocardial Development.

Congenital heart disease (CHD) has a strong genetic etiology, making it a likely candidate for therapeutic intervention using genetic editing. Complex genetics involving an orchestrated series of genetic events and over 400 genes are responsible for myocardial development. Cooperation is required from a vast series of genetic networks, and mutations in such can lead to CHD and cardiovascular abnormalities, affecting up to 1% of all live births. Genome editing technologies are becoming better studied and with time and improved logistics, CHD could be a prime therapeutic target. Syndromic, nonsyndromic, and cases of familial inheritance all involve identifiable causative mutations and thus have the potential for genome editing therapy. Mouse models are well-suited to study and predict clinical outcome. This review summarizes the anatomical and genetic timeline of myocardial development in both mice and humans, the potential of gene editing in typical CHD categories, as well as the use of mice thus far in reproducing models of human CHD and correcting the mutations that create them.

Referral Order Placement Decreases Time to Transfer to Adult Congenital Heart Disease Care.

Pediatric patients with moderate and great complexity congenital heart disease (CHD) may benefit from coordinated transfer to adult congenital heart disease (ACHD) centers to reduce the risk of complications; however, there are a variety of transfer practices. We examined the impact of referral order placement at the last pediatric cardiology visit on time to transfer to an ACHD center. We analyzed data collected from pediatric patients with moderate and great complexity CHD who were eligible to transfer to our tertiary center's accredited ACHD center. We examined transfer outcomes and time-to-transfer between those with a referral order placed at the last pediatric cardiology visit and those without using Cox proportional hazards modeling. The sample (n = 65) was 44.6% female and mean age at study start was 19.5 years (± 2.2). Referral orders were placed for 32.3% of patients at the last pediatric cardiology visit. Those who had a referral order placed at the last visit had significantly higher number of successful transfers to the ACHD center compared to those who did not (95% vs 25%, p < 0.001). In a Cox regression model, placement of a referral order at the last pediatric cardiology visit was associated significantly with a sooner time to transfer (HR 6.0; 95% CI 2.2-16.2, p > 0.001), adjusting for age, sex, complexity, living location, and pediatric cardiology visit location. Placement of a referral order at the last pediatric cardiology visit may improve transfer occurrence and time to transfer to accredited ACHD centers.

Enhancing Quality of Congenital Heart Care Within Resource-Limited Settings.

Over 90% of the world's children with congenital heart disease (CHD) are born in the resources poor settings of low- to middle-income countries (LMICs). The shortfall in human and material resources and dysfunctional health systems leads to poor quality of care (QoC) which contributes substantially to suboptimal outcomes of patients with CHD in LMICs. Notwithstanding these challenges, it is possible to develop a quality improvement (QI) framework that can have a significant impact on outcomes and prevent a number of deaths. In this review, we examine the common barriers to implementing effective QI processes in LMICs. Using examples of successful QI initiatives in LMIC, we propose a broad framework that focuses on simple, yet effective measures involving cohesive efforts of all key participants guided and nurtured by a leadership that strongly values QoC.

The Utility of CT Angiography in Neonates with Pulmonary Atresia with Intact Ventricular Septum and Concern for Right Ventricular Dependent Coronary Circulation: Case Series.

Up to one third of patients with pulmonary atresia with intact ventricular septum (PA-IVS) will have inadequate anterograde coronary blood flow and rely on fistulous connections from the right ventricle (RV) for myocardial perfusion, known as RV-dependent coronary circulation (RVDCC). Historically, identification of the extent of ventriculocoronary connections and coronary stenosis has required invasive imaging with cardiac catheterization and angiography. Cardiac computed tomography (CCT) potentially provides a less invasive imaging option for therapeutic planning in this group of patients. We describe six neonates with PA-IVS who underwent both CCT and cardiac catheterization at our institution prior to any surgical or transcatheter intervention between 2009 and 2019. Imaging was concerning for RVDCC in all six patients. The average tricuspid Z-score was - 4.19 (2.1 to - 5.34). Two patients underwent cardiac transplantation and two patients underwent ductal stenting. The overall mortality rate was 50%. CCT findings closely mirrored the findings of invasive cardiac catheterization and identified important morphological variations. The average radiation exposure (DLP) per CCT was (10.5 mGy cm, range 6-20). Technological improvements in CCT have enabled adequate visualization of coronary anomalies in children with comparable accuracy to cardiac catheterization, but considerably less radiation exposure. However, diagnosis of RVDCC requires direct right ventricular angiography. Therefore, the potential benefit of obtaining a CCT prior to catheterization for infants with PA-IVS is the ability to risk stratify, assist with procedural planning, and improve family counseling.

Advocacy at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.

The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery (WCPCCS) will be held in Washington DC, USA, from Saturday, 26 August, 2023 to Friday, 1 September, 2023, inclusive. The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery will be the largest and most comprehensive scientific meeting dedicated to paediatric and congenital cardiac care ever held. At the time of the writing of this manuscript, The Eighth World Congress of Pediatric Cardiology and Cardiac Surgery has 5,037 registered attendees (and rising) from 117 countries, a truly diverse and international faculty of over 925 individuals from 89 countries, over 2,000 individual abstracts and poster presenters from 101 countries, and a Best Abstract Competition featuring 153 oral abstracts from 34 countries. For information about the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery, please visit the following website: [www.WCPCCS2023.org]. The purpose of this manuscript is to review the activities related to global health and advocacy that will occur at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.Acknowledging the need for urgent change, we wanted to take the opportunity to bring a common voice to the global community and issue the Washington DC WCPCCS Call to Action on Addressing the Global Burden of Pediatric and Congenital Heart Diseases. A copy of this Washington DC WCPCCS Call to Action is provided in the Appendix of this manuscript. This Washington DC WCPCCS Call to Action is an initiative aimed at increasing awareness of the global burden, promoting the development of sustainable care systems, and improving access to high quality and equitable healthcare for children with heart disease as well as adults with congenital heart disease worldwide.

Predictors of Neurological Outcome Following Infant Cardiac Surgery Without Deep Hypothermic Circulatory Arrest.

The aim of this study is to describe the clinical characteristics, perioperative course and neuroimaging abnormalities of infants with congenital heart disease (CHD) undergoing heart surgery without deep hypothermic circulatory arrest (DHCA) and identify variables associated with neurological outcome. Infants with CHD undergoing open-heart surgery without DHCA between 2009 and 2017 were identified from a cardiac surgery database. Full-term infants < 10 weeks of age at the time of surgery who had both a pre- and postoperative brain magnetic resonance imaging exam (MRI) were included. Clinical characteristics and perioperative variables were collected from the electronic medical record. Brain Injury Scores (BIS) were assigned to pre- and postoperative brain MRIs. Variables were examined for association with neurological outcome at 12 months of age or greater. Forty-two infants were enrolled in the study, of whom 69% (n = 29) had a neurological assessment ≥ to 12 months of age. Adverse neurological outcome was associated with longer intensive care unit (ICU) stay (P = 0.003), lengthier mechanical ventilation (P = 0.031), modified Blalock-Taussig (MBT) shunt procedure (P = 0.005) and postoperative seizures (P = 0.005). Total BIS scores did not predict outcome but postoperative infarction and/or intraparenchymal hemorrhage (IPH) was associated with worse outcome by multivariable analysis (P = 0.018). Infants with CHD undergoing open-heart surgery without DHCA are at increased risk of worse neurological outcome when their ICU stay is prolonged, mechanical ventilation is extended, MBT shunt is performed or when postoperative seizures are present. Cerebral infarctions and IPH on postoperative MRI are also associated with worse outcome.

Development and Initial Validation of a Frailty Score for Pediatric Patients with Congenital and Acquired Heart Disease.

Frailty is a multi-dimensional clinical syndrome that is associated with increased morbidity and mortality and decreased quality of life. Children/adolescents with heart disease (HD) perform significantly worse for each frailty domain compared to non-HD peers. Our study aimed to create a composite frailty score (CFS) that can be applied to children/adolescents with HD and evaluate associations between the CFS and outcomes. Children and adolescents (n = 30) with HD (73% single ventricle, 20% heart failure, 7% pulmonary hypertension) were recruited from 2016 to 2017 (baseline). Five frailty domains were assessed at baseline using measures validated for pediatrics: (1) Slowness: 6-min walk test; (2) Weakness: handgrip strength; (3) Fatigue: PedsQL Multi-dimensional Fatigue Scale; (4) Body composition: triceps skinfold thickness; and (5) Physical activity questionnaire. Frailty points per domain (range = 0-5) were assigned based on z-scores or raw questionnaire scores and summed to produce a CFS (0 = least frail; 25 = most frail). Nonparametric bootstrapping was used to identify correlations between CFS and cross-sectional change in outcomes over 2.2 ± 0.2 years. The mean CFS was 12.5 ± 3.5. In cross-sectional analyses of baseline data, correlations (|r|≥ 0.30) were observed between CFS and NYHA class, the number of ancillary specialists, total prescribed medications, heart failure medications/day, exercise test derived chronotropic index and percent predicted VO2peak, and between child and parent proxy PEDsQL. At follow-up, CFS was correlated with an increase in the number of heart failure medications (r = 0.31). CFS was associated with cross-sectional outcomes in youth with heart disease. Longitudinal analyses were limited by small sample sizes due to loss to follow-up.

Identifying gaps in parental support for families of children with hypoplastic left heart syndrome.

PURPOSE: The purpose of this study is to identify gaps in support for parents of children with Hypoplastic Left Heart Syndrome. DESIGN AND METHODS: Using a mixed-methods approach, the researchers first studied the parental and care team experience through interviews of Hypoplastic Left Heart Syndrome mothers and members of the inter-professional care team and then conducted an international survey of 690 Hypoplastic Left Heart Syndrome primary caregivers to validate the qualitative findings. RESULTS: Parental and care team interviews revealed three main gaps in parental support, including lack of open communication, unrealistic parental expectations, and unclear inter-professional team roles. Survey results found that parents whose children were diagnosed with Hypoplastic Left Heart Syndrome after birth indicated significant dissatisfaction with the care team's open communication and welcoming of feedback (p = 0.008). As parents progress through the stages of surgical intervention, they also indicate significant dissatisfaction with the care team's anticipation of parental emotional needs and provision of coping resources (p = 0.003). CONCLUSIONS: Parental support interventions should focus on providing resources to help parents cope, helping the care team model open communication, and welcoming feedback on the parental experience. PRACTICE IMPLICATIONS: Interventions should be piloted with parents who are in the later stages of the surgical intervention timeline or whose children were diagnosed after birth as they are the populations who perceived the least support within this study.

Epidemiology, etiology and clinical associations of congenital heart disease identified during congenital rubella syndrome surveillance.

BACKGROUND: Congenital heart disease (CHD) is a common congenital malformation. Antenatal rubella infection in the mother and genetic defects are important causes to which CHD are attributed. Exact contribution of antenatal rubella infection or genetic causes to CHD is still unknown. OBJECTIVE: To study the epidemiology, etiology and clinical associations of echocardiographically confirmed congenital heart disease in infants in Western Rajasthan enrolled in the congenital rubella syndrome (CRS) surveillance project. To study the utility of clinical diagnostic criteria in identifying congenital rubella infection. METHOD: This was a prospective observational study, in which 251 patients with echocardiographically confirmed CHD were enrolled. Detailed clinical evaluation was done in all patients. Rubella serology was done in all patients. Genetic and other testing was done as appropriate. RESULT: The hospital-based prevalence of CHD in infants was 1% at our center. Fifty-seven percent of the babies had acyanotic septal heart defects of which ventricular septal defect (VSD) was the most common (35%). Anti-rubella immunoglobulin M (IgM) antibodies were positive in 8.5% of the CHD patients. A clinically identifiable genetic cause was present in 3.6% of the cases. In patients who tested positive for anti-rubella IgM antibodies also, VSD was the most common (33%) CHD followed by Tetralogy of Fallot (13.2%). CONCLUSION: CRS contributes to 8.5% of CHD. CRS is associated with a wide spectrum of CHD. The etiology of a large number of CHD remains elusive. Detailed studies on the cause and mechanism of development of CHD need to be undertaken.