Addressing Disparities in Pediatric Congenital Heart Disease: A Call for Equitable Health Care.

While significant progress has been made in reducing disparities within the US health care system, notable gaps remain. This article explores existing disparities within pediatric congenital heart disease care. Congenital heart disease, the most common birth defect and a leading cause of infant death, has garnered substantial attention, revealing certain disparities within the US health care system. Factors such as race, ethnicity, insurance coverage, socioeconomic status, and geographic location are all commonalities that significantly affect health disparities in pediatric congenital heart disease. This comprehensive review sheds light on disparities from diverse perspectives in pediatric care, demonstrates the inequities and inequalities leading to these disparities, presents effective solutions, and issues a call to action for providers, institutions, and the health care system. Recognizing and addressing these disparities is imperative for ensuring equitable care and enhancing the long-term well-being of children affected by congenital heart disease. Implementing robust, evidence-based frameworks that promote responsible and safe interventions is fundamental to enduring change.

Mental Health Care for Children with Heart Disease and Their Families: Practical Approaches and Considerations for the Pediatric and Pediatric Cardiology Clinician.

Mental health conditions are a common comorbidity among children living with heart disease. Children with congenital heart disease are more likely to have a mental health condition than their unaffected peers or peers with other chronic illnesses, and mental health risk persists across their lifetime. While poorer mental health in adults with congenital heart disease is associated with worse overall health outcomes, the association between mental health and cardiac outcomes for children with heart disease remains unknown. Despite this, it is suspected that mental health conditions go undiagnosed in children with heart disease and that many affected children and adolescents do not receive optimal mental health care. In this article, we review mental health in congenital heart disease across the lifespan, across domains of care, and across diagnoses. Further directions to support mental health care for children and adolescents with heart disease include practical screening and access to timely referral and mental health resources.

Mind the Gap! Working Toward Gender Equity in Pediatric and Congenital Heart Disease: Present and Future.

Evidence from medicine and other fields has shown that gender diversity results in better decision making and outcomes. The incoming workforce of congenital heart specialists (especially in pediatric cardiology) appears to be more gender balanced, but past studies have shown many inequities. Gender-associated differences in leadership positions, opportunities presented for academic advancement, and recognition for academic contributions to the field persist. In addition, compensation packages remain disparate if evaluated based on gender with equivalent experience and expertise. This review explores these inequities and has suggested individual and institutional changes that could be made to recruit and retain women, monitor the climate of the institution, and identify and eliminate bias in areas like salary and promotions.

Burden with No Benefit: Prior Authorization in Congenital Cardiology.

Prior authorization is a process that health insurance companies use to determine if a patient's health insurance will cover certain medical treatments, procedures, or medications. Prior authorization requests are common in adult congenital and pediatric cardiology (ACPC) due to need for advanced diagnostics, complex procedures, disease-specific medications, and the heterogeneity of the ACPC population. Prior authorizations in ACPC are rarely denied, but nonetheless, they are often accompanied by significant administrative burden on clinical care teams and delays in patient care. Prior authorizations have been implicated in worsening care inequities. The prior authorization process is insurer specific with differences between commercial and public insurers. Prior authorization rejections were previously found to be more common for women, racial minorities, those with low education, and in low-income groups. Prior authorization unduly burdens routine diagnostics, routine interventional and surgical procedures, and routine cardiac specific medication use in the ACPC population. This manuscript highlights the burdens of prior authorization and advocates for the elimination of prior authorization for ACPC patients.

Can machine learning methods be used for identification of at-risk neonates in low-resource settings? A prospective cohort study.

INTRODUCTION: Timely identification of at-risk neonates (ARNs) in the community is essential to reduce mortality in low-resource settings. Tools such as American Academy of Pediatrics pulse oximetry (POx) and WHO Young Infants Clinical Signs (WHOS) have high specificity but low sensitivity to identify ARNs. Our aim was assessing the value of POx and WHOS independently, in combination and with machine learning (ML) from clinical features, to detect ARNs in a low/middle-income country. METHODS: This prospective cohort study was conducted in a periurban community in Pakistan. Eligible live births were screened using WHOS and POx along with clinical information regarding pregnancy and delivery. The enrolled neonates were followed for 4 weeks of life to assess the vital status. The predictive value to identify ARNs, of POx, WHOS and an ML model using maternal and neonatal clinical features, was assessed. RESULTS: Of 1336 neonates, 68 (5%) had adverse outcomes, that is, sepsis (n=40, 59%), critical congenital heart disease (n=2, 3%), severe persistent pulmonary hypertension (n=1), hospitalisation (n=8, 12%) and death (n=17, 25%) assessed at 4 weeks of life. Specificity of POx and WHOS to independently identify ARNs was 99%, with sensitivity of 19% and 63%,respectively. Combining both improved sensitivity to 70%, keeping specificity at 98%. An ML model using clinical variables had 44% specificity and 76% sensitivity. A staged assessment, where WHOS, POx and ML are sequentially used for triage, increased sensitivity to 85%, keeping specificity 75%. Using ML (when WHOS and POx negative) for community follow-up detected the majority of ARNs. CONCLUSION: Classic screening, combined with ML, can help maximise identifying ARNs and could be embedded in low-resource clinical settings, thereby improving outcome. Sequential use of classic assessment and clinical ML identifies the most ARNs in the community, still optimising follow-up clinical care.

Familial Hyperlipidemia Caused by Apolipoprotein B Mutation in the Pediatric Amish Population: A Mini Review.

Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder that causes increased low density lipoprotein cholesterol (LDL-C) levels and a higher risk of premature atherosclerosis and cardiovascular disease (CVD). Common causes of FH include inherited genetic mutations in the LDLR, APOB, and PCSK9 genes. LDLR, APOB, and PCSK9 mutations account for 79%, 5%, and <1% of cases of FH respectively. Apolipoprotein B (ApoB) is the necessary atherogenic lipoprotein which can serve as a determinant of cardiovascular disease including hypercholesterolemia. A founder variant in Apolipoprotein B (APOB p.R3527Q) causes FH and is found in 12% of the Pennsylvania Amish population. This article provides an overview of ApoB metabolism and clinical manifestations associated with APOB mutations. An understanding of the clinical manifestations caused by APOB p.R3527Q can be beneficial for the clinical diagnosis and treatment of FH in the Amish. Based on previous studies, changes in LDL cholesterol (LDL-C), LDL particles (LDL-P), small dense LDL particles, and ApoB levels can be seen among these patients putting them at an increased risk for atherosclerotic issues, vascular hardening, and changes in endothelial function, particularly among homozygous individuals.

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.

WiTNNess: An international natural history study of infantile-onset TNNT1 myopathy.

OBJECTIVE: We created WiTNNess as a hybrid prospective/cross-sectional observational study to simulate a clinical trial for infantile-onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcome assessments, specify endpoints, and refine trial logistics. METHODS: Eligible participants had biallelic pathogenic variants of TNNT1 and infantile-onset proximal weakness without confounding conditions. The primary endpoint was ventilator-free survival. "Thriving" was a secondary endpoint defined as the ability to swallow and grow normally without non-oral feeding support. Endpoints of gross motor function included independent sitting and standing as defined by the Word Health Organization, a novel TNNT1 abbreviated motor score, and video mapping of limb movement. We recorded adverse events, concomitant medications, and indices of organ function to serve as comparators of safety in future trials. RESULTS: Sixteen children were enrolled in the aggregate cohort (6 prospective, 10 cross-sectional; median census age 2.3 years, range 0.5-13.8). Median ventilator-free survival was 20.2 months and probability of death or permanent mechanical ventilation was 100% by age 60 months. All six children (100%) in the prospective arm failed to thrive by age 12 months. Only 2 of 16 (13%) children in the aggregate cohort sat independently and none stood alone. Novel exploratory motor assessments also proved informative. Laboratory and imaging data suggest that primary manifestations of TNNT1 deficiency are restricted to skeletal muscle. INTERPRETATION: WiTNNess allowed us to streamline and economize the collection of historical control data without compromising scientific rigor, and thereby establish a sound operational framework for future clinical trials.

The Impact of Maternal Preeclampsia and Hyperglycemia on the Cardiovascular Health of the Offspring: A Systematic Review and Meta-analysis.

OBJECTIVES: The objective of this review was to assess the impact of maternal preeclampsia or hyperglycemia on the body composition and cardiovascular health in the offspring. STUDY DESIGN: We conducted a systematic review utilizing PubMed, EBSCO, CINAHLPlus, Cochrane Library, and Web of Science to include all studies assessing the impact of preeclampsia/eclampsia and/or gestational/pregestational diabetes mellitus on the health of the offspring (children <10 years of age). The health measures included anthropometry, cardiac dimensions and function, and vascular function. We performed a meta-analysis using Review Manager software and computed net risk ratio (RR) with 95% confidence interval (CI) for dichotomous data and mean difference (MD) with 95% CI for continuous data. RESULTS: There were 6,376 studies in total, of which 45 were included in the review and 40 in the meta-analysis. The results demonstrated higher birth weight (MD: 0.12 kg; 95% CI: 0.06-0.18) and systolic and diastolic blood pressure (BP; MD: 5.98 mm Hg; 95% CI: 5.64-6.32 and MD: 3.27 mm Hg; 95% CI: 0.65-5.89, respectively) in the offspring of mothers with gestational diabetes compared to controls. In contrast, the offspring of mothers with preeclampsia had lower birth weight (MD: -0.41 kg; 95% CI: -0.7 to -0.11); however, they had increased systolic (MD: 2.2 mm Hg; 95% CI: 1.28-3.12) and diastolic BP (MD: 1.41 mm Hg; 95% CI: 0.3-2.52) compared to controls. There is lack of data to conduct a meta-analysis of cardiac morphology, functional, and vascular imaging parameters. CONCLUSION: These findings suggest that the in-utero milieu can have a permanent impact on the body composition and vascular health of the offspring. Future work warrants multicenter prospective studies to understand the mechanism and the actual effect of exposure to maternal hyperglycemia and high BP on the cardiovascular health of the offspring and long-term outcomes. KEY POINTS: · Adverse in-utero exposures may have an impact on cardiovascular risk in children.. · Maternal hyperglycemia/preeclampsia lead to changes in birthweight and BP.. · Limited echocardiographic and vascular imaging data in these cohorts necessitates future work..

Neurodevelopment assessment of small for gestational age children in a community-based cohort from Pakistan.

BACKGROUND: Children born small for gestational age (SGA) may experience more long-term neurodevelopmental issues than those born appropriate for gestational age (AGA). This study aimed to assess differences in the neurodevelopment of children born SGA or AGA within a periurban community in Pakistan. METHODS: This was a prospective cohort study in which study participants were followed from the pilot Doppler cohort study conducted in 2018. This pilot study aimed to develop a pregnancy risk stratification model using machine learning on fetal Dopplers. This project identified 119 newborns who were born SGA (2.4±0.4 kg) based on International Fetal and Newborn Growth Consortium standards. We assessed 180 children (90 SGA and 90 AGA) between 2 and 4 years of age (76% of follow-up rate) using the Malawi Developmental Assessment Tool (MDAT). FINDINGS: Multivariable linear regression analysis comparing the absolute scores of MDAT showed significantly lower fine motor scores (ß: -0.98; 95% CI -1.90 to -0.06) among SGAs, whereas comparing the z-scores using multivariable logistic regression, SGA children had three times higher odds of overall z-scores ≤-2 (OR: 3.78; 95% CI 1.20 to 11.89) as compared with AGA children. INTERPRETATION: SGA exposure is associated with poor performance on overall MDAT, mainly due to changes in the fine motor domain in young children. The scores on the other domains (gross motor, language and social) were also lower among SGAs; however, none of these reached statistical significance. There is a need to design follow-up studies to assess the impact of SGA on child's neurodevelopmental trajectory and school performance.

Evaluation and Management of Noncardiac Comorbidities in Children With Congenital Heart Disease.

Outcomes for patients with neonatal heart disease are affected by numerous noncardiac and genetic factors. These can include neonatal concerns, such as prematurity and low birth weight, and congenital anomalies, such as airway, pulmonary, gastrointestinal, and genitourinary anomalies, and genetic syndromes. This section will serve as a summary of these issues and how they may affect the evaluation and management of a neonate with heart disease. These noncardiac factors are heavily influenced by conditions common to neonatologists, making a strong argument for multidisciplinary care with neonatologists, cardiologists, surgeons, anesthesiologists, and cardiovascular intensivists. Through this section and this project, we aim to facilitate a comprehensive approach to the care of neonates with congenital heart disease.

Patent foramen ovale in children: Unique pediatric challenges and lessons learned from adult literature.

A patent foramen ovale (PFO) is a frequent incidental finding during echocardiography in otherwise healthy children. In most healthy children with a diagnosis of isolated incidental PFO, no further follow-up or intervention is necessary. In some children, PFO is associated with certain clinical syndromes such as cryptogenic stroke, decompression sickness, migraine, and platypnea-orthodeoxia syndrome. This review discusses PFO anatomy, diagnostic imaging, PFO-associated clinical situations, management options, and the role of PFO in certain congenital heart disease. This review also highlights the current deficiency of pediatric data guiding management of these uncommon but important PFO-associated conditions. Future multicenter randomized controlled studies are necessary to guide the management of these unique and challenging PFO-associated conditions.

Clinical characterization of familial hypercholesterolemia due to an amish founder mutation in Apolipoprotein B.

BACKGROUND: Familial hypercholesterolemia (FH) due to a founder variant in Apolipoprotein B (ApoBR3500Q) is reported in 12% of the Pennsylvania Amish community. By studying a cohort of ApoBR3500Q heterozygotes and homozygotes, we aimed to characterize the biochemical and cardiac imaging features in children and young adults with a common genetic background and similar lifestyle. METHODS: We employed advanced lipid profile testing, carotid intima media thickness (CIMT), pulse wave velocity (PWV), and peripheral artery tonometry (PAT) to assess atherosclerosis in a cohort of Amish ApoBR3500Q heterozygotes (n = 13), homozygotes (n = 3), and their unaffected, age-matched siblings (n = 9). ApoBR3500Q homozygotes were not included in statistical comparisons. RESULTS: LDL cholesterol (LDL-C) was significantly elevated among ApoBR3500Q heterozygotes compared to sibling controls, though several ApoBR3500Q heterozygotes had LDL-C levels in the normal range. LDL particles (LDL-P), small, dense LDL particles, and ApoB were also significantly elevated among subjects with ApoBR3500Q. Despite these differences in serum lipids and particles, CIMT and PWV were not significantly different between ApoBR3500Q heterozygotes and controls in age-adjusted analysis. CONCLUSIONS: We provide a detailed description of the serum lipids, atherosclerotic plaque burden, vascular stiffness, and endothelial function among children and young adults with FH due to heterozygous ApoBR3500Q. Fasting LDL-C was lower than what is seen with other forms of FH, and even normal in several ApoBR3500Q heterozygotes, emphasizing the importance of cascade genetic testing among related individuals for diagnosis. We found increased number of LDL particles among ApoBR3500Q heterozygotes but an absence of detectable atherosclerosis.

Return to Activity After SARS-CoV-2 Infection: Cardiac Clearance for Children and Adolescents.

CONTEXT: Sedentary behavior and inability to participate in organized physical activity has negatively affected the physical and mental health of children and adolescents; however, cardiac injury and associated risk for sudden cardiac death with return to activity remains a major concern. Guidelines have been proposed for return to activities; however, these fail to address the needs of younger children and those participating in more casual activities. Guidance is needed for primary care providers to facilitate safe return to everyday activity and sports and to help direct appropriate laboratory, electrocardiographic, and anatomical assessment. EVIDENCE ACQUISITION: Review of computerized databases of available literature on SARS-CoV-2 infection in children and postinfection sequelae, risk factors for sudden cardiac death, and previous return to play recommendations. STUDY DESIGN: Clinical guidelines based on available evidence and expert consensus. LEVEL OF EVIDENCE: Level 4. RESULTS: In this report, we review the literature on return to activity after SARS-CoV-2 infection and propose recommendations for cardiac clearance for children and adolescents. Though severe disease and cardiac injury is less common in children than in adults, it can occur. Several diagnostic modalities such as electrocardiography, echocardiography, cardiac magnetic resonance imaging, and serologic testing may be useful in the cardiac evaluation of children after SARS-CoV-2 infection. CONCLUSION: Gradual return to activity is possible in most children and adolescents after SARS-CoV-2 infection and many of these patients can be cleared by their primary care providers. Providing education on surveillance for cardiopulmonary symptoms with return to sports can avoid unnecessary testing and delays in clearance.

Quality improvement initiative in paediatric echocardiography laboratory in a low- to middle-income country.

AIMS: To determine the impact of a quality improvement (QI) initiative in the area of paediatric echocardiography (echo) in a low- to middle-income country (LMIC).Care for patients with congenital heart disease is challenging, especially in LMICs. Collaborative learning through QI projects is imperative to ensure improvement in delivery processes leading to better patient outcomes. METHODS AND RESULTS: This QI initiative was taken by a team consisting of physicians and sonographers. Problems were identified, a key driver diagram (KDD) was created, and simple process re-engineering was done using interventions based on the KDD. Metrics (five process and one outcome) were assessed to determine the effectiveness of the QI project. The process metrics assessed were comprehensiveness of exam, timeliness of reporting, diagnostic accuracy and error, and sedation adverse event rates of transthoracic echocardiograms, while a novel comprehensive echo laboratory (lab) quality score was developed as an outcome metric. Data were collected quarterly and analysed in the post-implementation phase. Significant improvement was seen in comprehensive mean score (20.4-29.7), timeliness (40-95%), and diagnostic accuracy rate (91-100%), while a decrease was seen in the diagnostic error rate (7.5-3.5%) and the sedation adverse event rate (6.8-0%), pre- vs. post-implementation. The overall quality outcome score improved from 7 to 19 and the echo lab was able to achieve adequate quality. CONCLUSION: This QI initiative produced improvement in all the processes, and the overall quality of the echo lab without any substantial increase in resources or cost.

mRNA Coronavirus Disease 2019 Vaccine-Associated Myopericarditis in Adolescents: A Survey Study.

In this survey study of institutions across the US, marked variability in evaluation, treatment, and follow-up of adolescents 12 through 18 years of age with mRNA coronavirus disease 2019 (COVID-19) vaccine-associated myopericarditis was noted. Only one adolescent with life-threatening complications was reported, with no deaths at any of the participating institutions.

Health Care Policy and Congenital Heart Disease: 2020 Focus on Our 2030 Future.

The congenital heart care community faces a myriad of public health issues that act as barriers toward optimum patient outcomes. In this article, we attempt to define advocacy and policy initiatives meant to spotlight and potentially address these challenges. Issues are organized into the following 3 key facets of our community: patient population, health care delivery, and workforce. We discuss the social determinants of health and health care disparities that affect patients in the community that require the attention of policy makers. Furthermore, we highlight the many needs of the growing adults with congenital heart disease and those with comorbidities, highlighting concerns regarding the inequities in access to cardiac care and the need for multidisciplinary care. We also recognize the problems of transparency in outcomes reporting and the promising application of telehealth. Finally, we highlight the training of providers, measures of productivity, diversity in the workforce, and the importance of patient-family centered organizations in advocating for patients. Although all of these issues remain relevant to many subspecialties in medicine, this article attempts to illustrate the unique needs of this population and highlight ways in which to work together to address important opportunities for change in the cardiac care community and beyond. This article provides a framework for policy and advocacy efforts for the next decade.

Newborn Pulse Oximetry for Infants Born Out-of-Hospital.

BACKGROUND AND OBJECTIVES: Conventional timing of newborn pulse oximetry screening is not ideal for infants born out-of-hospital. We implemented a newborn pulse oximetry screen to align with typical midwifery care and measure its efficacy at detecting critical congenital heart disease. METHODS: Cohort study of expectant mothers and infants mainly from the Amish and Mennonite (Plain) communities with limited prenatal ultrasound use. Newborns were screened at 1 to 4 hours of life ("early screen") and 24 to 48 hours of life ("late screen"). Newborns were followed up to 6 weeks after delivery to report outcomes. Early screen, late screen, and combined results were analyzed on the basis of strict algorithm interpretation ("algorithm") and the midwife's interpretation in the field ("field") because these did not correspond in all cases. RESULTS: Pulse oximetry screening in 3019 newborns (85% Plain; 50% male; 43% with a prenatal ultrasound) detected critical congenital heart disease in 3 infants. Sensitivity of combined early and late screen was 66.7% (95% confidence interval [CI] 9.4% to 99.2%) for algorithm interpretation and 100% (95% CI 29.2% to 100%) for field interpretation. Positive predictive value was similar for the field interpretation (8.8%; 95% CI 1.9% to 23.7%) and algorithm interpretation (5.4%; 95% CI 0.7% to 18.2%). False-positive rates were ≤1.2% for both algorithm and field interpretations. Other pathologies (noncritical congenital heart disease, pulmonary issues, or infection) were reported in 12 of the false-positive cases. CONCLUSIONS: Newborn pulse oximetry can be adapted to the out-of-hospital setting without compromising sensitivity or prohibitively increasing false-positive rates.

Detection of subclinical rheumatic heart disease in children using a deep learning algorithm on digital stethoscope: a study protocol.

INTRODUCTION: Rheumatic heart diseases (RHDs) contribute significant morbidity and mortality globally. To reduce the burden of RHD, timely initiation of secondary prophylaxis is important. The objectives of this study are to determine the frequency of subclinical RHD and to train a deep learning (DL) algorithm using waveform data from the digital auscultatory stethoscope (DAS) in predicting subclinical RHD. METHODS AND ANALYSIS: We aim to recruit 1700 children from a group of schools serving the underprivileged over a 12-month period in Karachi (Pakistan). All consenting students within the age of 5-15 years with no underlying congenital heart disease will be eligible for the study. We will gather information regarding sociodemographics, anthropometric data, history of symptoms or diagnosis of rheumatic fever, phonocardiogram (PCG) and electrocardiography (ECG) data obtained from DAS. Handheld echocardiogram will be performed on each study participant to assess the presence of a mitral regurgitation (MR) jet (>1.5 cm), or the presence of aortic regurgitation (AR) in any view. If any of these findings are present, a confirmatory standard echocardiogram using the World Heart Federation (WHF) will be performed to confirm the diagnosis of subclinical RHD. The auscultatory data from digital stethoscope will be used to train the deep neural network for the automatic identification of patients with subclinical RHD. The proposed neural network will be trained in a supervised manner using labels from standard echocardiogram of the participants. Once trained, the neural network will be able to automatically classify the DAS data in one of the three major categories-patient with definite RHD, patient with borderline RHD and normal subject. The significance of the results will be confirmed by standard statistical methods for hypothesis testing. ETHICS AND DISSEMINATION: Ethics approval has been taken from the Aga Khan University, Pakistan. Findings will be disseminated through scientific publications and to collaborators. ARTICLE FOCUS: This study focuses on determining the frequency of subclinical RHD in school-going children in Karachi, Pakistan and developing a DL algorithm to screen for this condition using a digital stethoscope.