Prioritizing family-centered developmental care: insights from parents of children with critical congenital heart disease: a qualitative study.

As survivors of early cardiac surgery are at high risk of neurodevelopmental impairments, systematic health observations of children with critical congenital heart disease (CCHD) throughout childhood are recommended to enable early diagnosis and offer interventions to optimize neurodevelopment. A qualitative study using thematic analysis was performed to explore parents' concerns, experiences, and needs regarding the development and received developmental care of their child (0-10 years) during hospital admission and beyond. Data were collected using semi-structured online interviews with 20 parents of children with CCHD. Four major themes were identified: (1) "impact of diagnosis and disease on the family-system," (2) "parental concerns from diagnoses and beyond," (3) "the need for information," and (4) "the need for individualized and family-centered care." The main themes can be divided into 13 sub-themes as impact, concerns, and needs are influenced by various impactful moments from diagnosis and afterwards.     Conclusion: This study confirms the importance of early identification of neurodevelopmental problems by experienced healthcare professionals, especially in the early years when parental expectations and concerns about their child's neurodevelopment are lower. A tailor-made family-centered follow-up program should be offered, which pays attention to both the neurodevelopment of patients with CCHD as well as the mental wellbeing of the entire family system. Furthermore, an online portal is recommended with a variety of reliable, controlled, understandable information from which parents can obtain the desired information to understand better the consequences of specific heart condition and to provide their child with the best possible guidance. What is Known: • Survivors of early cardiac surgery are at high risk of neurodevelopmental impairments; systematic health observations of children with CCHD throughout childhood are strongly recommended. What is New: • Parents need a tailor-made family-centered follow-up program, which pays attention to both the neurodevelopment of patients with CCHD as well as the mental wellbeing of the entire family system. • An online portal offering diverse, trustworthy information and sources would effectively meet parents' needs by providing accessible insights into the potential consequences of specific heart conditions and guiding them in supporting their child optimally.

The effects of percutaneous branch pulmonary artery interventions on exercise capacity, lung perfusion, and right ventricular function in biventricular CHD: a systematic review.

BACKGROUND: Branch pulmonary artery stenosis is common after surgical repair in patients with biventricular CHD and often requires reinterventions. However, (long-term) effects of percutaneous branch pulmonary artery interventions on exercise capacity, right ventricular function, and lung perfusion remain unclear. This review describes the (long-term) effects of percutaneous branch pulmonary artery interventions on exercise capacity, right ventricular function, and lung perfusion following PRISMA guidelines. METHODS: We performed a systematic search in PubMed, Embase, and Cochrane including studies about right ventricular function, exercise capacity, and lung perfusion after percutaneous branch pulmonary artery interventions. Study selection, data extraction, and quality assessment were performed by two researchers independently. RESULTS: In total, 7 eligible studies with low (n = 2) and moderate (n = 5) risk of bias with in total 330 patients reported on right ventricular function (n = 1), exercise capacity (n = 2), and lung perfusion (n = 7). Exercise capacity and lung perfusion seem to improve after a percutaneous intervention for branch pulmonary artery stenosis. No conclusions about right ventricular function or remodelling, differences between balloon and stent angioplasty or specific CHD populations could be made. CONCLUSION: Although pulmonary artery interventions are frequently performed in biventricular CHD, data on relevant outcome parameters such as exercise capacity, lung perfusion, and right ventricular function are largely lacking. An increase in exercise capacity and improvement of lung perfusion to the affected lung has been described in case of mild to more severe pulmonary artery stenosis during relatively short follow-up. However, there is need for future studies to evaluate the effect of pulmonary artery interventions in various CHD populations.

Physical Activity Levels, Cardiorespiratory Fitness, and Physical Literacy in Children With a Chronic Medical Condition.

PURPOSE: This study investigated differences in cardiorespiratory fitness (CRF) and other physical literacy domains between children with a chronic medical condition (CMC) who adhered to with the physical activity guideline and those who did not. METHOD: Forty children with a CMC (7-12 years) wore an accelerometer for 7 days to measure moderate-to-vigorous physical activity. CRF and muscle power were assessed with a maximal cardiopulmonary exercise test, and motor performance was measured with an exercise course. Motivation, confidence, knowledge, and understanding were assessed with a questionnaire. RESULTS: Children who adhered to the PA guideline (n = 13) scored significantly higher for CRF, muscle power, motivation and confidence than children who did not adhere to the PA guideline (n = 27). No significant differences were found for motor performance, knowledge and understanding. CONCLUSION: Future research should investigate the effect of paying specific attention to motivation and confidence in children with a CMC to stimulate their adherence to the PA guideline.

Acute and early-onset cardiotoxicity in children and adolescents with cancer: a systematic review.

BACKGROUND: Cardiotoxicity is among the most important adverse effects of childhood cancer treatment. Anthracyclines, mitoxantrone and radiotherapy involving the heart are its main causes. Subclinical cardiac dysfunction may over time progress to clinical heart failure. The majority of previous studies have focused on late-onset cardiotoxicity. In this systematic review, we discuss the prevalence and risk factors for acute and early-onset cardiotoxicity in children and adolescents with cancer treated with anthracyclines, mitoxantrone or radiotherapy involving the heart. METHODS: A literature search was performed within PubMed and reference lists of relevant studies. Studies were eligible if they reported on cardiotoxicity measured by clinical, echocardiographic and biochemical parameters routinely used in clinical practice during or within one year after the start of cancer treatment in ≥ 25 children and adolescents with cancer. Information about study population, treatment, outcomes of diagnostic tests used for cardiotoxicity assessment and risk factors was extracted and risk of bias was assessed. RESULTS: Our PubMed search yielded 3649 unique publications, 44 of which fulfilled the inclusion criteria. One additional study was identified by scanning the reference lists of relevant studies. In these 45 studies, acute and early-onset cardiotoxicity was studied in 7797 children and adolescents. Definitions of acute and early-onset cardiotoxicity prove to be highly heterogeneous. Prevalence rates varied for different cardiotoxicity definitions: systolic dysfunction (0.0-56.4%), diastolic dysfunction (30.0-100%), combinations of echocardiography and/or clinical parameters (0.0-38.1%), clinical symptoms (0.0-25.5%) and biomarker levels (0.0-37.5%). Shortening fraction and ejection fraction significantly decreased during treatment. Cumulative anthracycline dose proves to be an important risk factor. CONCLUSIONS: Various definitions have been used to describe acute and early-onset cardiotoxicity due to childhood cancer treatment, complicating the establishment of its exact prevalence. Our findings underscore the importance of uniform international guidelines for the monitoring of cardiac function during and shortly after childhood cancer treatment.

Exercise capacity in a cohort of children with congenital heart disease.

In patients with congenital heart disease (CHD), reduced exercise capacity can be a predictor for late complications and may be used to guide interventions. Yet, the interpretation of exercise capacity is challenged by changes in body composition during growth. Our aim was to create an overview of disease-specific exercise capacity in children with CHD. We performed a multicentre retrospective study of exercise capacity of CHD patients, aged 6-18 years, tested between January 2001 and October 2018. Sex-specific distribution graphs were made using the LMS method and height to relate to body size. We included all CHD with N > 50, including severe defects (e.g., univentricular heart, tetralogy of Fallot) and "simple" lesions as ventricular septum defect and atrial septum defect. We included 1383 tests of 1208 individual patients for analysis. The peak oxygen uptake (VO2peak, 37.3 ml/min/kg (25th-75th percentile 31.3-43.8)) varied between specific defects; patients with univentricular hearts had lower VO2peak compared with other CHD. All groups had lower VO2peak compared to healthy Dutch children. Males had higher VO2peak, Wpeak and O2pulsepeak than females. Sex- and disease-specific distribution graphs for VO2peak, Wpeak and O2pulsepeak showed increase in variation with increase in height.   Conclusion: Disease-specific distribution graphs for exercise capacity in children with CHD from a large multicentre cohort demonstrated varying degrees of reduced VO2peak and Wpeak. The distribution graphs can be used in the structured follow-up of patients with CHD to predict outcome and identify patients at risk. What is Known: • Children with congenital heart disease (COnHD) are at risk to develop heart failure, arrhytmia's and other complications. Exercise capacity may be an important predictor for outcome in children with ConHD. In children, the interpretation of exercise capacity poses an additional challenge related to physical changes during growth. What is New: • In this report of a multi-center cohort >1300 childrewn with ConHD, we related the changes in exercise capacity to length. We demonstrated that exercise capacity was reduced as compared with healthy children and we observed variation between disease groups. Patients with a univentricular circulation (Fontan) had worse exercise capacity. We constructed disease specific charts of development of exercise capacity throughout childhood, accessible via a web-site. These graphs may help practitioner to guide children with ConHD.

Is Measuring Physical Literacy in School-Aged Children With Cystic Fibrosis or Congenital Heart Disease Needed?

PURPOSE: To explore the association between cardiorespiratory fitness and other physical literacy domains in children with cystic fibrosis (CF) or congenital heart disease (CHD). METHODS: In 28 children with CF (n = 10) or CHD (n = 18), aged 7 to 11 years, cardiorespiratory fitness and the following physical literacy domains were measured: ( a ) physical competence, ( b ) motivation and confidence, ( c ) knowledge and understanding, and ( d ) daily behavior (ie, self-perceived moderate-to-vigorous physical activity [MVPA]). RESULTS: Cardiorespiratory fitness was significantly associated with motivation and confidence and self-perceived MVPA. There were no other significant associations. CONCLUSIONS: Cardiorespiratory fitness is associated with self-perceived MVPA, motivation, and confidence in children with CF or CHD.

Comparability of different Z-score equations for aortic root dimensions in children with Marfan syndrome.

BACKGROUND: Aortic root dilation is a major complication of Marfan syndrome and is one of the most important criteria in establishing the diagnosis. Currently, different echocardiographic nomograms are used to calculate aortic root Z-scores. The aim of the present study was to assess the potential differences in aortic root measurements when aortic root Z-scores were obtained in a cohort of paediatric Marfan patients using several published nomograms. METHODS: In a cohort of 100 children with Marfan syndrome, Z-scores for aortic root dimensions were calculated according to the nomograms of Pettersen et al, Gautier et al, Colan et al, and Lopez et al. Bland-Altman plots were used to estimate mean differences in Z-scores and to establish limits of agreement. RESULTS: The mean Z-score of the sinus of Valsalva for Lopez et al was significantly higher compared to Gautier et al (p < 0.01) and Pettersen et al (p = 0.03). The nomogram of Lopez et al resulted in substantially higher Z-scores in patients with a large sinus of Valsalva diameter. Thirty-five percentage of the studied patients would have a Z-score ≥ 2 using Lopez et al compared to 20% for Pettersen et al, 21% for Gautier et al, and 33% for Colan et al. CONCLUSION: The currently available nomograms for calculating Z-scores of aortic dilation in children with Marfan syndrome lead to clinically relevant differences in Z-scores, especially in children with a relative large aortic root diameter. This could have impact on both the diagnosis and treatment of patients with Marfan syndrome.

Motor Developmental Delay After Cardiac Surgery in Children With a Critical Congenital Heart Defect: A Systematic Literature Review and Meta-analysis.

PURPOSE: To systematically review evidence regarding the severity and prevalence of motor development in children with a critical congenital heart defect (CCHD) without underlying genetic anomalies. SUMMARY OF KEY POINTS: Twelve percent of all included studies reported abnormal mean motor developmental scores, and 38% reported below average motor scores. Children with single-ventricle physiology, especially those with hypoplastic left heart syndrome, had the highest severity and prevalence of motor delay, particularly at 0 to 12 months. Most included studies did not differentiate between gross and fine motor development, yet gross motor development was more affected. RECOMMENDATIONS FOR CLINICAL PRACTICE: We recommend clinicians differentiate between the type of heart defect, fine and gross motor development, and the presence of genetic anomalies. Furthermore, increased knowledge about severity and prevalence will enable clinicians to tailor their interventions to prevent motor development delays in CCHD.

Exercise Capacity in Asymptomatic Adult Patients Treated for Coarctation of the Aorta.

A reduced exercise capacity is a common finding in adult congenital heart disease and is associated with cardiovascular morbidity and mortality. However, data on exercise capacity in patients after repair of coarctation of the aorta (CoA) are scarce. Furthermore, a high rate of exercise-induced hypertension has been described in CoA patients. This study sought to assess exercise capacity and blood pressure response in asymptomatic patients long-term after CoA repair in relation to left ventricular and vascular function. Twenty-two CoA patients (age 30 ± 10.6 years) with successful surgical repair (n = 12) or balloon angioplasty (n = 10) between 3 months and 16 years of age with a follow-up of > 10 years underwent cardiopulmonary exercise testing at a mean follow-up of 23.9 years. Exercise capacity (peak oxygen uptake; VO2peak) and blood pressure response were compared to age- and gender-matched reference values. Left ventricular function and volumetric analysis was performed using cardiovascular magnetic resonance imaging. CoA patients showed preserved exercise capacity compared to the healthy reference group, with a VO2peak of 41.7 ± 12.0 ml/kg/min versus 44.9 ± 6.7 ml/kg/min. VO2peak/kg showed a significant association with age (p < 0.001) and male gender (p ≤ 0.001). Exercise-induced hypertension occurred in 82% of CoA patients, and was strongly related to left ventricular mass (p = 0.04). Of the 41% of patients who were normotensive at rest, 78% showed exercise-induced hypertension. No significant correlation was found between peak exercise blood pressure and age, BMI, age at time of repair, LVEF, or LV dimensions. Exercise capacity is well preserved in patients long-term after successful repair of coarctation of the aorta. Nevertheless, a high number of patients develop exercise hypertension, which is strongly related to systemic hypertension. Regular follow-up, including cardiopulmonary exercise testing, and aggressive treatment of hypertension after CoA repair is strongly advised.

Arterioventricular interaction after coarctation repair.

BACKGROUND: Hypertension is common in patients with coarctation of the aorta (CoA), even after successful repair. Increased aortic stiffness has been implicated in the pathology of CoA-associated hypertension. This study aimed to investigate aortic vascular function and its relationship with hypertension in well-repaired CoA-patients at long-term follow-up. Furthermore, we assessed the additive effect of hypertension to adverse arterioventricular coupling associated with increased aortic stiffness. METHODS: Twenty-two CoA-patients (age 30 ±â€¯10.6 years) with successful surgical repair (n = 12) or balloon angioplasty (BA) (n = 10) between 3 months and 16 years of age with a follow-up of >10 years and 22 healthy controls underwent cardiac magnetic resonance imaging (CMR), at mean follow-up of 29.3 years, to study aortic pulse wave velocity (PWV), aortic distensibility, global left ventricular (LV) function, LV dimensions, and LV myocardial deformation. RESULTS: CoA-patients had significantly increased aortic arch PWV (5.6 ±â€¯1.9 m/s vs. 4.5 ±â€¯1.0 m/s, P = .02) and decreased distensibility (4.5 ±â€¯1.8 × 10-3 mmHg-1 vs. 5.8 ±â€¯1.8 × 10-3 mmHg-1, P = .04) compared to controls. Significant differences in aortic arch PWV were found between hypertensive patients, normotensive patients and controls (6.1 ±â€¯1.8 m/s vs. 4.9 ±â€¯1.9 m/s and 4.5 ±â€¯1.0 m/s, respectively, P = .03). Aortic arch PWV and distensibility were correlated with systolic blood pressure (R = 0.37 and R = -0.37, respectively, P = .03 for both). Global LV function, LV mass, LV dimensions and myocardial deformation were similar in CoA-patients when compared to controls. CONCLUSIONS: Central aortic stiffness is significantly increased in well-repaired CoA-patients long-term after repair, and is associated with hypertension. Global LV function, myocardial deformation indices and LV dimensions are however preserved.

Preserved Myocardial Deformation after Successful Coarctation Repair: A CMR Feature-Tracking Study.

Arterial vasculopathy and residual aortic obstruction can lead to left ventricular (LV) dysfunction in patients with coarctation of the aorta (CoA) related to adverse ventriculo-arterial coupling. This study aimed to investigate potential differences in LV myocardial deformation indices between repaired CoA patients and healthy controls. Twenty-two CoA patients (age 30 ± 10.6 years) after surgical repair (n = 12) or balloon angioplasty (BA) (n = 10) without residual stenosis, between 3 months and 16 years of age with > 10 years follow-up were compared to 22 healthy age- and gender-matched controls (age 30 ± 3.8 years). Cardiac magnetic resonance feature tracking (CMR-FT) was used for LV longitudinal-, circumferential-, and rotational deformation indices. Global systolic LV function was preserved in CoA patients (LV ejection fraction 58 ± 4.8 vs. 60 ± 6.8%, p = 0.56) when compared to controls, with normal LV dimensions and mass (p > 0.05). Twelve CoA patients (55%) were hypertensive, of whom 4 were on anti-hypertensive medication. LV global longitudinal strain was preserved in the four-chamber (- 18 ± 4.4 vs. - 16 ± 4.7%, p = 0.06) and two-chamber (- 22 ± 5.1 vs. - 20 ± 6.0%, p = 0.22) orientations in CoA patients. Global circumferential strain was preserved at basal (- 29 ± 4.1 vs. - 28 ± 4.8%, p = 0.43), mid-ventricular (- 27 ± 4.2 vs. - 25 ± 3.0%, p = 0.09), and apical levels (- 35 ± 7.8 vs. - 32 ± 34.9%, p = 0.32). No differences were found in global torsion (2.4 ± 1.3° vs. 2.0 ± 1.4°/cm, p = 0.28), twist (14 ± 5.8° vs. 12 ± 6.3°, p = 0.34), and recoil rate (- 17 ± 9.7° vs. - 17 ± 7.1°/cm s, p = 0.97). Analysis of intra-observer variability demonstrated good reproducibility for all CMR deformation indices. Global and rotational myocardial deformation indices are preserved in CoA patients long-term after repair without residual stenosis, despite a high incidence of hypertension.

Surgical Repair of Ventricular Septal Defect; Contemporary Results and Risk Factors for a Complicated Course.

Surgical closure of the ventricular septal defect is the most commonly performed procedure in pediatric cardiac surgery. There are conflicting data on weight at operation as risk factor for a complicated course. We performed a retrospective evaluation of mortality and morbidity in all patients undergoing surgical ventricular septal defect closure at our institution between 2004 and 2012 to identify risk factor for a complicated course. Multivariate logistic regression modeling was performed to identify risk factors for a complicated course. 243 patients who underwent surgical ventricular septal defect closure were included. Median age at operation was 168.0 days (range 17-6898), the median weight 6.0 kg (range 2.1-102.0). No deaths occurred. Two patients (0.8%) required a pacemaker for permanent heart block. Five patients (2.1%) underwent reoperation for a hemodynamically important residual ventricular septal defect. No other major adverse events occurred. No risk factors for major adverse events could be established. Multivariate analysis identified a genetic syndrome, long bypass time and low weight at operation as independent risk factors for a prolonged intensive care stay (>1 day) and prolonged ventilation time (>6 h). Contemporary results of surgical VSD closure are excellent with no mortality and low morbidity in this series. Although it is associated with increased ventilation time and a longer hospital stay, low bodyweight at operation is not associated with an increased risk of complications or major adverse events in our series.

Is cardiovascular evaluation necessary prior to and during beta-blocker therapy for infantile hemangiomas?: A cohort study.

BACKGROUND: Although consensus guidelines for pretreatment evaluation and monitoring of propranolol therapy in patients with infantile hemangiomas (IH) have been formulated, little is known about the cardiovascular side effects. OBJECTIVES: We sought to analyze cardiovascular evaluations in patients with IH at baseline and during treatment with an oral beta-blocker. METHODS: Data from 109 patients with IH were retrospectively analyzed. Patient and family history, pretreatment electrocardiogram (ECG), heart rate, and blood pressure were evaluated before initiation of beta-blocker therapy. Blood pressure and standardized questionnaires addressing side effects were evaluated during treatment. RESULTS: Questionnaire analyses (n = 83) identified 3 cases with a family history of cardiovascular disease in first-degree relatives. ECG findings were normal in each case and no serious complication of therapy occurred. ECG abnormalities were found in 6.5% of patients but there were no contraindications to beta-blocker therapy and no major complications. Hypotension in 9 patients did not require therapy adjustment. In all, 88 parents (81%) reported side effects during beta-blocker treatment. LIMITATIONS: The relatively small patient cohort is a limitation. CONCLUSION: Pretreatment ECG is of limited value for patients with an unremarkable cardiovascular history and a normal heart rate and blood pressure. Hypotension may occur during treatment.

Cardiac MRI in diagnosis, prognosis, and follow-up of hypertrophic cardiomyopathy in children: current perspectives.

Hypertrophic Cardiomyopathy (HCM) is an inherited myocardial disease characterised by left ventricular hypertrophy, which carries an increased risk of life-threatening arrhythmias and sudden cardiac death. The age of presentation and the underlying aetiology have a significant impact on the prognosis and quality of life of children with HCM, as childhood-onset HCM is associated with high mortality risk and poor long-term outcomes. Accurate cardiac assessment and identification of the HCM phenotype are therefore crucial to determine the diagnosis, prognostic stratification, and follow-up. Cardiac magnetic resonance (CMR) is a comprehensive evaluation tool capable of providing information on cardiac morphology and function, flow, perfusion, and tissue characterisation. CMR allows to detect subtle abnormalities in the myocardial composition and characterise the heterogeneous phenotypic expression of HCM. In particular, the detection of the degree and extent of myocardial fibrosis, using late-gadolinium enhanced sequences or parametric mapping, is unique for CMR and is of additional value in the clinical assessment and prognostic stratification of paediatric HCM patients. Additionally, childhood HCM can be progressive over time. The rate, timing, and degree of disease progression vary from one patient to the other, so close cardiac monitoring and serial follow-up throughout the life of the diagnosed patients is of paramount importance. In this review, an update of the use of CMR in childhood HCM is provided, focussing on its clinical role in diagnosis, prognosis, and serial follow-up.

Spectrum of Heart Diseases in Children in a National Cardiac Referral Center Tanzania, Eastern Africa: A Six-Year Overview.

Background: While communicable diseases have long been the primary focus of healthcare in Africa, the rising impact of paediatric and congenital heart disease (CHD) cannot be overlooked. This research aimed to estimate the frequency and pattern of heart diseases in children who underwent their first echocardiography at a national cardiac referral hospital in Tanzania. Methods: A retrospective observational study was conducted on children aged 0 to 18 years referred for first-time cardiological evaluation from January 2017 to December 2022. Retrieval of social and echocardiogram data and descriptive analysis were performed. Results: There were 6,058 children with complete reports. Of these, 52.8% (3,198) had heart disease, of whom 2,559 (80%) had CHD, while (340/639; 53.2%) with acquired heart disease (AHD) had rheumatic heart disease (RHD). Children with CHD had a median age 1.0 years (IQR: 0.3-3.5) and were predominantly 51.2% male. Children with RHD had a median age 9.7 years (IQR: 3.2-13.8) with equal gender distribution. Shunt lesions were common in 1,487 (58.1%), mainly VSD 19.3%, PDA 19.1%, ASD 15.1%, and atrioventricular septal defect (AVSD) 4.6%. Pulmonary valve stenosis was in 97 (3.8%). Around 35% (718) had cyanotic CHD, with TOF being most common (13.3%), followed by double outlet right ventricle (DORV) (3.6%). Compared to global average truncus arteriosus was higher in 69 (2.3%) children. In contrast, TGA and hypoplastic left heart syndrome (HLHS) were lower than the estimated global average seen in 2.3% and 0.5% of the cases, respectively. Atresia of the right-side valves was more common (174 vs. 24), and approximately 40% of the patients referred for first-time echocardiographic evaluation required hospitalization. Conclusion: Congenital heart disease is the primary cause of heart disease in children presenting at a national referral hospital, surpassing RHD. With its distinct distribution pattern, acyanotic lesions are more frequent than cyanotic heart diseases. The observed late referral tendencies suggest improving the referral system, enhancing CHD awareness among healthcare professionals, and instituting nationwide screening programs.

Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.

BACKGROUND: MYH7 variants cause hypertrophic cardiomyopathy (HCM), noncompaction cardiomyopathy (NCCM), and dilated cardiomyopathy (DCM). Screening of relatives of patients with genetic cardiomyopathy is recommended from 10 to 12 years of age onward, irrespective of the affected gene. OBJECTIVES: This study sought to study the penetrance and prognosis of MYH7 variant-associated cardiomyopathies. METHODS: In this multicenter cohort study, penetrance and major cardiomyopathy-related events (MCEs) were assessed in carriers of (likely) pathogenic MYH7 variants by using Kaplan-Meier curves and log-rank tests. Prognostic factors were evaluated using Cox regression with time-dependent coefficients. RESULTS: In total, 581 subjects (30.1% index patients, 48.4% male, median age 37.0 years [IQR: 19.5-50.2 years]) were included. HCM was diagnosed in 226 subjects, NCCM in 70, and DCM in 55. Early penetrance and MCEs (age <12 years) were common among NCCM-associated variant carriers (21.2% and 12.0%, respectively) and DCM-associated variant carriers (15.3% and 10.0%, respectively), compared with HCM-associated variant carriers (2.9% and 2.1%, respectively). Penetrance was significantly increased in carriers of converter region variants (adjusted HR: 1.87; 95% CI: 1.15-3.04; P = 0.012) and at age ≤1 year in NCCM-associated or DCM-associated variant carriers (adjusted HR: 21.17; 95% CI: 4.81-93.20; P < 0.001) and subjects with a family history of early MCEs (adjusted HR: 2.45; 95% CI: 1.09-5.50; P = 0.030). The risk of MCE was increased in subjects with a family history of early MCEs (adjusted HR: 1.82; 95% CI: 1.15-2.87; P = 0.010) and at age ≤5 years in NCCM-associated or DCM-associated variant carriers (adjusted HR: 38.82; 95% CI: 5.16-291.88; P < 0.001). CONCLUSIONS: MYH7 variants can cause cardiomyopathies and MCEs at a young age. Screening at younger ages may be warranted, particularly in carriers of NCCM- or DCM-associated variants and/or with a family history of MCEs at <12 years.

Diagnostic Accuracy of Physical Examination and Pulse Oximetry for Critical Congenital Cardiac Disease Screening in Newborns.

BACKGROUND: Newborns with a critical congenital heart disease left undiagnosed and untreated have a substantial risk for serious complications and subsequent failure to thrive. Prenatal ultrasound screening is not widely available, nor is postnatal echocardiography. Physical examination is the standard for postnatal screening. Pulse oximetry has been proposed in numerous studies as an alternative screening method. This systematic review and meta-analysis aims to determine the diagnostic accuracies of both screening methods separately and combined. METHODS: A systematic literature search of the Embase, PubMed, and Global Health databases up to 30 November 2023 was conducted with the following keywords: critical congenital heart disease, physical examination, clinical scores, pulse oximetry, and echocardiography. The search included all studies conducted in the newborn period using both physical examination and pulse oximetry as screening methods and excluded newborns admitted to the intensive care unit. All studies were assessed for risk of bias and applicability concerns using the QUADAS-2 score. The review adhered to the PRISMA 2020 statement guideline. RESULTS: Out of 2711 articles, 20 articles were selected as eligible for meta-analysis. Cumulatively, the sample included 872,549 screened newborns. The pooled sensitivity of the physical examination screening method was found to be 0.69 (0.66-0.73 (95% CI)) and specificity was found to be 0.98 (0.98-0.98). For the pulse oximetry screening method, the pooled sensitivity and specificity yielded 0.78 (0.75-0.82) and 0.99 (0.99-0.99), respectively. The combined method of screening yielded improved diagnostic characteristics at a sensitivity and specificity of 0.93 (0.91-0.95) and 0.98 (0.98-0.98, respectively. CONCLUSIONS: The evidence indicates that combining both physical examination and pulse oximetry to screen for critical congenital heart disease exceeds the accuracy of either separate method. The main limitation is that solely newborns with suspected critical congenital heart disease were subjected to the reference standard. We recommend adapting both methods to screen for critical congenital heart diseases, especially in settings lacking standard fetal ultrasound screening. To increase the sensitivity further, we recommend increasing the screening time window and employing the peripheral perfusion index.

Physical activity in relation to motor performance, exercise capacity, sports participation, parental perceptions, and overprotection in school aged children with a critical congenital heart defect.

OBJECTIVE: To depict objectively measured moderate-to-vigorous physical activity (MVPA), motor performance (MP), cardiorespiratory fitness (CRF), organized sports participation, parental perceptions of vulnerability and parenting style in children with a Critical Congenital Heart Disease (CCHD), and to explore whether these factors are associated with MVPA. STUDY DESIGN: A prospective observational cohort study in 62 7-10 years old children with a CCHD. RESULTS: On average, children with CCHD spent 64 min on MVPA per day (accelerometry), 61 % met the international WHO physical activity guideline. Only 12 % had >60 min of MVPA daily. Eighteen percent had a motor delay (movement-assessment-battery-for children-II) and 38 % showed a below average CRF (cardiopulmonary exercise test using the Godfrey ramp protocol). Seventy-seven percent participated in organized sports activities at least once a week. Twenty-one percent of the parents are classified as overprotective (parent protection scale) and 7.3 % consider their child as being vulnerable (child vulnerability scale). A significant positive association was found between MVPA and MP (rs = 0.359), CRF(V̇O2peak/ml/kg: rs = 0.472 and Wpeak/kg: rs = 0.396) and sports participation (rs = 0.286). Children who were perceived as vulnerable by their parents showed a significantly lower MVPA (rs = -0.302). No significant associations were found between mean MVPA and parental overprotection. CONCLUSION: Even though the majority of school aged children with a CCHD is sufficiently active, counseling parents regarding the importance of sufficient MVPA and sports participation, especially in parents who consider their child being vulnerable, could be useful. Since motor delays can be detected at an early age, motor development could be an important target to improve exercise capacity and sports participation to prevent inactivity in children with a CCHD.

Executive functioning in preschoolers with 22q11.2 deletion syndrome and the impact of congenital heart defects.

BACKGROUND: Executive functioning (EF) is an umbrella term for various cognitive functions that play a role in monitoring and planning to effectuate goal-directed behavior. The 22q11.2 deletion syndrome (22q11DS), the most common microdeletion syndrome, is associated with a multitude of both somatic and cognitive symptoms, including EF impairments in school-age and adolescence. However, results vary across different EF domains and studies with preschool children are scarce. As EF is critically associated with later psychopathology and adaptive functioning, our first aim was to study EF in preschool children with 22q11DS. Our second aim was to explore the effect of a congenital heart defects (CHD) on EF abilities, as CHD are common in 22q11DS and have been implicated in EF impairment in individuals with CHD without a syndromic origin. METHODS: All children with 22q11DS (n = 44) and typically developing (TD) children (n = 81) were 3.0 to 6.5 years old and participated in a larger prospective study. We administered tasks measuring visual selective attention, visual working memory, and a task gauging broad EF abilities. The presence of CHD was determined by a pediatric cardiologist based on medical records. RESULTS: Analyses showed that children with 22q11DS were outperformed by TD peers on the selective attention task and the working memory task. As many children were unable to complete the broad EF task, we did not run statistical analyses, but provide a qualitative description of the results. There were no differences in EF abilities between children with 22q11DS with and without CHDs. CONCLUSION: To our knowledge, this is the first study measuring EF in a relatively large sample of young children with 22q11DS. Our results show that EF impairments are already present in early childhood in children with 22q11DS. In line with previous studies with older children with 22q11DS, CHDs do not appear to have an effect on EF performance. These findings might have important implications for early intervention and support the improvement of prognostic accuracy.

A prediction rule for food challenge outcome in children.

BACKGROUND: In children with food-related symptoms, a food challenge is considered as the gold standard to diagnose allergy. If food allergy could be predicted by patient history and/or diagnostic tests, the number of time-consuming and sometimes risky food challenges could be decreased. We aimed to determine questionnaire and test-based characteristics, to predict the food challenge outcome (FCO) in children referred to a tertiary centre for the evaluation of food-related symptoms. METHODS: Pre-challenge standardized questionnaires, skin prick tests (SPT), and specific IgE levels (sIgE) were obtained in patients that underwent a food challenge in our hospital in 2009. Characteristics of patients with positive and negative FCO were compared, and uni- and multivariate associations between predictors and FCO were calculated. Based on the multivariate model, a risk score was developed to predict the FCO. RESULTS: One hundred and twenty-nine challenges were analyzed, 41.9% had a positive outcome. Median age of both groups was 4.9 yrs (range 2.8-8.3). Patients with a positive FCO reacted faster with symptoms after allergen ingestion and had higher sIgE levels compared to children with negative FCO. A clinical risk score was developed based on the index food, 'time between allergen ingestion and complaints' and sIgE levels (range 0-10). The prognostic capacity of this model (AUC) was excellent (0.90). The very high- and low-risk groups (24% of patients) are both predicted excellent without misclassification. CONCLUSION: Positive FCO can be predicted by the index food, time between allergen ingestion and development of symptoms, and the sIgE level.