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1.
Myocardial Parametric Mapping by Cardiac Magnetic Resonance Imaging in Pediatric Cardiology and Congenital Heart Disease.
Rao, S, Tseng, SY, Pednekar, A, Siddiqui, S, Kocaoglu, M, Fares, M, Lang, SM, Kutty, S, Christopher, AB, Olivieri, LJ, et al
Circulation. Cardiovascular imaging. 2022;(1):e012242
Abstract
Parametric mapping, that is, a pixel-wise map of magnetic relaxation parameters, expands the diagnostic potential of cardiac magnetic resonance by enabling quantification of myocardial tissue-specific magnetic relaxation on an absolute scale. Parametric mapping includes T1 mapping (native and postcontrast), T2 and T2* mapping, and extracellular volume measurements. The myocardial composition is altered in various disease states affecting its inherent magnetic properties and thus the myocardial relaxation times that can be directly quantified using parametric mapping. Parametric mapping helps in the diagnosis of nonfocal disease states and allows for longitudinal disease monitoring, evaluating therapeutic response (as in Thalassemia patients with iron overload undergoing chelation), and risk-stratification of certain diseases. In this review article, we describe various mapping techniques and their clinical utility in congenital heart disease. We will also review the available literature on normative values in children, the strengths, and weaknesses of these techniques. This review provides a starting point for pediatric cardiologists to understand and implement parametric mapping in their practice.
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2.
Environmental and Genetic Risk Factors of Congenital Anomalies: an Umbrella Review of Systematic Reviews and Meta-Analyses.
Lee, KS, Choi, YJ, Cho, J, Lee, H, Lee, H, Park, SJ, Park, JS, Hong, YC
Journal of Korean medical science. 2021;(28):e183
Abstract
BACKGROUND The prevalence of congenital anomalies in newborns in South Korea was 272.9 per 100,000 in 2005, and 314.7 per 100,000 in 2006. In other studies, the prevalence of congenital anomalies in South Korea was equivalent to 286.9 per 10,000 livebirths in 2006, while it was estimated 446.3 per 10,000 births during the period from 2008 to 2014. Several systematic reviews and meta-analyses analyzing the factors contributing to congenital anomalies have been reported, but comprehensive umbrella reviews are lacking. METHODS We searched PubMed, Google Scholar, Cochrane, and EMBASE databases up to July 1, 2019, for systematic reviews and meta-analyses that investigated the effects of environmental and genetic factors on any type of congenital anomalies. We categorized 8 subgroups of congenital anomalies classified according to the 10th revision of the International Statistical Classification of Diseases (ICD-10). Two researchers independently searched the literature, retrieved the data, and evaluated the quality of each study. RESULTS We reviewed 66 systematic reviews and meta-analyses that investigated the association between non-genetic or genetic risk factors and congenital anomalies. Overall, 269 associations and 128 associations were considered for environmental and genetic risk factors, respectively. Congenital anomalies based on congenital heart diseases, cleft lip and palate, and others were associated with environmental risk factors based on maternal exposure to environmental exposures (air pollution, toxic chemicals), parental smoking, maternal history (infectious diseases during pregnancy, pregestational and gestational diabetes mellitus, and gestational diabetes mellitus), maternal obesity, maternal drug intake, pregnancy through artificial reproductive technologies, and socioeconomic factors. The association of maternal alcohol or coffee consumption with congenital anomalies was not significant, and maternal folic acid supplementation had a preventive effect on congenital heart defects. Genes or genetic loci associated with congenital anomalies included MTHFR, MTRR and MTR, GATA4, NKX2-5, SRD5A2, CFTR, and 1p22 and 20q12 anomalies. CONCLUSION This study provides a wide perspective on the distribution of environmental and genetic risk factors of congenital anomalies, thus suggesting future studies and providing health policy implications.
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Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects.
Guida, V, Sparascio, FP, Bernardini, L, Pancheri, F, Melis, D, Cocciadiferro, D, Pagnoni, M, Puzzo, M, Goldoni, M, Barone, C, et al
Clinical genetics. 2021;(3):268-279
Abstract
Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder of craniofacial morphogenesis. Its etiology is unclear, but assumed to be complex and heterogeneous, with contribution of both genetic and environmental factors. We assessed the occurrence of copy number variants (CNVs) in a cohort of 19 unrelated OAVS individuals with congenital heart defect. Chromosomal microarray analysis identified pathogenic CNVs in 2/19 (10.5%) individuals, and CNVs classified as variants of uncertain significance in 7/19 (36.9%) individuals. Remarkably, two subjects had small intragenic CNVs involving DACH1 and DACH2, two paralogs coding for key components of the PAX-SIX-EYA-DACH network, a transcriptional regulatory pathway controlling developmental processes relevant to OAVS and causally associated with syndromes characterized by craniofacial involvement. Moreover, a third patient showed a large duplication encompassing DMBX1/OTX3, encoding a transcriptional repressor of OTX2, another transcription factor functionally connected to the DACH-EYA-PAX network. Among the other relevant CNVs, a deletion encompassing HSD17B6, a gene connected with the retinoic acid signaling pathway, whose dysregulation has been implicated in craniofacial malformations, was also identified. Our findings suggest that CNVs affecting gene dosage likely contribute to the genetic heterogeneity of OAVS, and implicate the PAX-SIX-EYA-DACH network as novel pathway involved in the etiology of this developmental trait.
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4.
Enteral Nutrition in Term Infants with Congenital Heart Disease: Knowledge Gaps and Future Directions to Improve Clinical Practice.
Martini, S, Beghetti, I, Annunziata, M, Aceti, A, Galletti, S, Ragni, L, Donti, A, Corvaglia, L
Nutrients. 2021;(3)
Abstract
Optimal nutrition is essential to improve short- and long-term outcomes in newborns with congenital heart disease (CHD). Nevertheless, several issues on nutritional management and concerns about the potential risk of complications related to enteral feeding exist. This narrative review aims to summarize and discuss the available literature on enteral feeding in term infants with CHD. A wide variability in feeding management exists worldwide. Emerging approaches to improve nutritional status and outcomes in infants with CHD include: implementation of a standardized enteral feeding protocol, both preoperative and postoperative, clearly defining time of initiation and advancement of enteral feeds, reasons to withhold, and definitions of feeding intolerance; early minimal enteral feeding; enteral feeding in stable term infants on hemodynamic support; evaluation of enteral feeding in term infants with umbilical arterial catheters and during prostaglandin infusion; assessment and support of oro-motor skills; and promotion and support of breastfeeding and provision of mother's own milk or donor milk when mother's own milk is not available. As evidence from term infants is scarce, available observations and recommendations partially rely on studies in preterm infants. Thus, well-designed studies assessing standardized clinically relevant outcomes are needed to provide robust evidence and shared recommendations and practices.
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5.
The Roles of Reduced Folate Carrier-1 (RFC1) A80G (rs1051266) Polymorphism in Congenital Heart Disease: A Meta-Analysis.
Yi, K, Ma, YH, Wang, W, Zhang, X, Gao, J, He, SE, Xu, XM, Ji, M, Guo, WF, You, T
Medical science monitor : international medical journal of experimental and clinical research. 2021;:e929911
Abstract
BACKGROUND We performed the present study to better elucidate the correlation of reduced folate carrier-1 (RFC1) A80G (rs1051266) polymorphism with the risk of congenital heart disease (CHD). MATERIAL AND METHODS According to the designed search strategy, a systematic literature search was performed through the PubMed, Cochrane Library, Web of Science, EMBASE, CNKI, VIP, and Wan Fang databases to collect published case-control studies on the correlation between RFC1 A80G polymorphism and CHD. All relevant studies up to October 1, 2019 were identified. The odds ratio (OR) and 95% confidence interval (CI) of the genotype distribution were used as the effect indicators. RESULTS A total of 6 eligible studies was finally included in our meta-analysis, including 724 children with CHD, 760 healthy children, 258 mothers of the children with CHD, and 334 mothers of healthy control children. The meta-analysis revealed that for fetal analysis, only in the heterozygous model (GA vs GG, OR=1.36, 95% CI [1.06, 1.75], P=0.02) was RFC1 A80G polymorphism associated with risk of CHD. In maternal analysis, 3 genetic models of RFC1 A80G polymorphism increased the risk of CHD: the allelic model (A vs G, OR=1.36, 95% CI [1.07, 1.71], P=0.01), the homozygote model (AA vs GG, OR=2.99, 95%CI [1.06, 8.41], P=0.04), and the dominance model (GA+AA vs GG, OR=1.53, 95%CI [1.08, 2.16], P=0.02). CONCLUSIONS The maternal RFC1 A80G polymorphism has a strong correlation with CHD. Compared with the G allele, the A allele increases the risk of CHD by 0.36-fold.
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6.
Physical activity modification in youth with congenital heart disease: a comprehensive narrative review.
van Deutekom, AW, Lewandowski, AJ
Pediatric research. 2021;(7):1650-1658
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Abstract
Congenital heart disease (CHD) affects nearly 1% of births. As survival rates have dramatically improved, the majority of individuals with CHD now live into adulthood. As these patients age, they become prone to a large range of complications, such as chronic heart failure and acquired cardiovascular disease. Promotion of a healthy and active lifestyle from childhood onwards has been suggested as a sustainable and effective strategy to enhance cardiovascular health, improve quality of life and reduce immediate and long-term risk in people with CHD. Well-established physical activity consensus statements for youth with CHD have now been published. In this article, we review how increasing physical activity in youth with CHD may offer immediate and long-term cardiovascular benefits, what is known about physical activity in children with CHD, describe the unique factors that contribute to achieving sufficient and insufficient physical activity levels and summarize the evidence of trials on physical activity promotion in youth with CHD. Furthermore, we discuss some of the challenges that need to be addressed by further research regarding the optimal strategy, timing and format of physical activity intervention programmes in children and adolescents with CHD. IMPACT Congenital heart disease (CHD) affects nearly 1% of births, with the majority of individuals with CHD now living into adulthood due to improved survival. As CHD patients age, they become prone to a large range of cardiovascular complications. This article discusses how and why increasing physical activity in youth with CHD may offer immediate and long-term cardiovascular benefits, the barriers to achieving sufficient physical activity levels and the evidence from trials on physical activity promotion in youth with CHD. The optimal strategy, timing and format of physical activity intervention programmes in children and adolescents with CHD are discussed.
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Cardiovascular Risk Factors in Patients With Congenital Heart Disease.
Bigras, JL
The Canadian journal of cardiology. 2020;(9):1458-1466
Abstract
Survival of infants born with congenital heart disease (CHD) is improving tremendously and although most of them have mild lesions, others might be considered as only being palliated and undergo many medical or surgical interventions. Patients with CHD will be exposed to the same problematic of the modern lifestyle such as increased prevalence of obesity, decreased physical activities, and exposure to smoking, which leads to acquired cardiovascular disease. We specifically investigated specific cardiovascular risk factors such as: malnutrition, smoking exposure, hypertension, integrity of the coronary and systemic arteries, thromboembolism, ventricular dysfunction, inflammation, and arrhythmias. Patients with CHD are often submitted to extremes of nutrition: as infants, they often do not meet their metabolic requirements, and as they grow older, they tend to exceed them, as seen in the general population. Some heart lesions are more prone to systemic hypertension throughout life, such as coarctation of the aorta, but surprisingly other lesions are also prone to hypertension such as Ebstein anomaly, pulmonary valve stenosis, or regurgitation. Early coronary artery atherosclerosis is also a concern in these patients. Lesions typically at risk are localized in zones of increased turbulence or high pressure or having had previous surgical manipulations. Thromboembolism is also frequent and mostly associated with arrhythmias, heart failure, multiple catheterizations, and specific surgical repairs. Finally, the complexity of heart lesions or abnormal hemodynamics lead to inflammation, heart failure, or arrhythmias. These complex interactions of risk factors ultimately lead to a decreased life expectancy.
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Association of postoperative fluid overload with adverse outcomes after congenital heart surgery: a systematic review and dose-response meta-analysis.
Bellos, I, Iliopoulos, DC, Perrea, DN
Pediatric nephrology (Berlin, Germany). 2020;(6):1109-1119
Abstract
BACKGROUND Pediatric cardiac surgery is commonly associated with acute kidney injury (AKI) and significant fluid retention, which complicate postoperative management and lead to increased rates of morbidity. This meta-analysis aimed to accumulate current literature evidence and evaluate the correlation of fluid overload degree with adverse outcome in patients undergoing congenital heart surgery. METHODS Medline, Scopus, CENTRAL, Clinicaltrials.gov, and Google Scholar were systematically searched from inception. All studies reporting the effects of fluid overload on postoperative clinical outcomes were selected. A dose-response meta-analytic method using restricted cubic splines was implemented in R-3.6.1. RESULTS Twelve studies were included, with a total of 3111 pediatric patients. Qualitative synthesis indicated that fluid overload was linked to significantly higher risk of mortality, AKI, prolonged hospital, and intensive care unit (ICU) stay, as well as with increased duration of mechanical ventilation, inotrope need, and infection rate. Meta-analysis demonstrated a linear correlation between fluid overload and the risk of mortality (χ2 = 6.22, p value = 0.01) and AKI (χ2 = 35.84, p value < 0.001), while a positive curvilinear relationship was estimated for the outcomes of hospital (χ2 = 18.84, p value = 0.0001) and ICU stay (χ2 = 63.69, p value = 0.0001). CONCLUSIONS The present meta-analysis supports that postoperative fluid overload is significantly linked to elevated risk of prolonged hospital stay, AKI development, and mortality in pediatric patients undergoing cardiac surgery. These findings warrant replication by future prospective studies, which should define the optimal cutoff values and assess the effectiveness of therapeutic strategies to limit fluid overload in the postoperative setting.
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The effect of early oral stimulation with breast milk on the feeding behavior of infants after congenital cardiac surgery.
Yu, XR, Huang, ST, Xu, N, Wang, LW, Wang, ZC, Cao, H, Chen, Q
Journal of cardiothoracic surgery. 2020;(1):309
Abstract
OBJECTIVE To investigate the effect of early oral stimulation with breast milk on the feeding behavior of infants after congenital cardiac surgery. METHODS Infants with congenital heart disease were randomly divided into the breast milk oral stimulation group (n = 23), physiological saline oral stimulation group (n = 23) and control group (n = 23). Debra Beckman's oral exercise program was used with breast milk and physiological saline in the breast milk oral stimulation group and the physiological saline oral stimulation group, respectively. The time oral feeding and total oral nutrition were started, the length of intensive care unit (ICU) stay and hospital stay, weight and the complications at discharge were recorded for each group and statistically analyzed. RESULTS The time oral feeding and total oral nutrition were started and the length of ICU stay and hospital stay were significantly less in the breast milk oral stimulation group and physiological saline oral stimulation group than in the control group (P < 0.05). There were no significant differences in other indicators between the breast milk oral stimulation group and the physiological saline oral stimulation group, except for the time total oral nutrition began (P < 0.05). However, there were no significant differences in weight or complications at discharge among the three groups (P > 0.05). CONCLUSION Early oral stimulation exercises with breast milk can help infant patients quickly recover total oral nutrition and reduce the length of ICU and hospital stay after cardiac surgery.
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Stress ulcer prophylaxis versus placebo-a blinded randomized control trial to evaluate the safety of two strategies in critically ill infants with congenital heart disease (SUPPRESS-CHD).
Mills, KI, Albert, BD, Bechard, LJ, Duggan, CP, Kaza, A, Rakoff-Nahoum, S, Vlamakis, H, Sleeper, LA, Newburger, JW, Priebe, GP, et al
Trials. 2020;(1):590
Abstract
BACKGROUND Critically ill infants with congenital heart disease (CHD) are often prescribed stress ulcer prophylaxis (SUP) to prevent upper gastrointestinal bleeding, despite the low incidence of stress ulcers and limited data on the safety and efficacy of SUP in infants. Recently, SUP has been associated with an increased incidence of hospital-acquired infections, community-acquired pneumonia, and necrotizing enterocolitis. The objective of this pilot study is to investigate the feasibility of performing a randomized controlled trial to assess the safety and efficacy of withholding SUP in infants with congenital heart disease admitted to the cardiac intensive care unit. METHODS A single center, prospective, double-blinded, randomized placebo-controlled pilot feasibility trial will be performed in infants with CHD admitted to the cardiac intensive care unit and anticipated to require respiratory support for > 24 h. Patients will be randomized to receive a histamine-2 receptor antagonist (H2RA) or placebo until they are discontinued from respiratory support. Randomization will be performed within 2 strata defined by admission type (medical or surgical) and age (neonate, age < 30 days, or infant, 1 month to 1 year). Allocation will be a 1:1 ratio using permuted blocks to ensure balanced allocations across the two treatment groups within each stratum. The primary outcomes include feasibility of screening, consent, timely allocation of study drug, and protocol adherence. The primary safety outcome is the rate of clinically significant upper gastrointestinal bleeding. The secondary outcomes are the difference in the relative and absolute abundance of the gut microbiota and functional microbial profiles between the two study groups. We plan to enroll 100 patients in this pilot study. DISCUSSION Routine use of SUP to prevent upper gastrointestinal bleeding in infants is controversial due to a low incidence of bleeding events and concern for adverse effects. The role of SUP in infants with CHD has not been examined, and there is equipoise on the risks and benefits of withholding this therapy. In addition, this therapy has been discontinued in other neonatal populations due to the concern for hospital-acquired infections and necrotizing enterocolitis. Furthermore, exploring changes to the microbiome after exposure to SUP may highlight the mechanisms by which SUP impacts potential microbial dysbiosis of the gut and its association with hospital-acquired infections. Assessment of the feasibility of a trial of withholding SUP in critically ill infants with CHD will facilitate planning of a larger multicenter trial of safety and efficacy of SUP in this vulnerable population. TRIAL REGISTRATION ClinicalTrials.gov , NCT03667703. Registered 12 September 2018, https://clinicaltrials.gov/ct2/show/NCT03667703?term=SUPPRESS+CHD&draw=2&rank=1 . All WHO Trial Registration Data Set Criteria are met in this manuscript.