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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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3.
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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4.
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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5.
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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6.
Aortopathy in Congenital Heart Disease.
Cotts, TB, Salciccioli, KB, Swanson, SK, Yetman, AT
Cardiology clinics. 2020;(3):325-336
Abstract
Aortic dilatation is common in patients with congenital heart disease and is seen in patients with bicuspid aortic valve and those with conotruncal congenital heart defects. It is important to identify patients with bicuspid aortic valve at high risk for aortic dissection. High-risk patients include those with the aortic root phenotype and those with syndromic or familial aortopathies including Marfan syndrome, Loeys-Dietz syndrome, and Turner syndrome. Aortic dilatation is common in patients with conotruncal congenital heart defects and rarely results in aortic dissection.
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7.
Development of feeding information for infants with CHD.
Marino, LV, Johnson, MJ, Davies, NJ, Kidd, C, Richens, T, Bharucha, T, Darlington, AS
Cardiology in the young. 2019;(9):1165-1171
Abstract
INTRODUCTION Infants with CHD often experience growth failure. Ensuring optimal growth before surgery is associated with improved outcomes and has emerged as a significant cause of parental stress. Parents have reported a perceived lack of accessible feeding information for infants with CHD. To address this gap, the aim of this study was to develop feeding information to better support parents. MATERIALS AND METHODS A search for existing material on six electronic databases and an internet search for unpublished (grey) literature on feeding information for infants with CHD were carried out. Following the development of feeding information, semi-structured interview(s) with parents/health-care professionals were completed, focusing on whether the information was easy to understand, relevant, provided sufficient information around feeding/feeding difficulties, and whether there were any information gaps. Iterative changes were made to the information following each interview. The process was completed until thematic saturation was achieved. RESULTS A total of 23 unique articles were identified of which 5 studies were included. From the grey literature, four web pages were reviewed. A total of 22 parents and 25 health-care professionals were interviewed. All parents/health-care professionals felt that the feeding information developed provided sufficient information; however, many wanted information on how to introduce complementary food, particularly if weaning was delayed. CONCLUSIONS This study describes the development of feeding information for infants with CHD. From parent interviews, gaps identified focused on the introduction of complementary foods and uncertainty regarding the feeding journey beyond surgery.
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8.
Energy and Protein Requirements in Children Undergoing Cardiopulmonary Bypass Surgery: Current Problems and Future Direction.
Zhang, J, Cui, YQ, Ma Md, ZM, Luo, Y, Chen, XX, Li, J
JPEN. Journal of parenteral and enteral nutrition. 2019;(1):54-62
Abstract
Congenital heart disease (CHD) is 1 of the most common congenital malformations, and considerable numbers of infants and young children with CHD undergo cardiopulmonary bypass surgery. It has been increasingly realized that perioperative nutrition support plays an important role in improving clinical outcomes. The purpose of this review, by searching PubMed, was to examine the nutrition conditions in perioperative children with CHD and the main problems in nutrition management in the cardiac intensive care unit (CICU), based on which future directions were proposed. We found that preoperative poor nutrition status is common. This limited reserve of energy and protein is further compounded by the complex metabolic alterations with hypermetabolism, hypercatabolism, and hypoanabolism in the early postoperative course. Knowledge about energy and protein metabolism and requirements in children after cardiopulmonary bypass remains very limited. The current nutrition recommendations in the CICU are based on little evidence. Insufficient energy and protein supply to meet demands remains a norm in the immediate postoperative period. The commonly used predictive equations do not provide accurate estimate of energy requirement in individual patients during the highly dynamic postoperative course. Indirect calorimetry can provide the best estimate of energy requirements for children with CHD in the CICU. Measurement of nitrogen balance is the recommended method to determine the minimal protein requirement. During the early postoperative period, daily measurements of resting energy expenditure using indirect calorimetry and nitrogen balance in each individual child are essential to optimize energy and protein supply to meet requirements.
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9.
Impact of Improved Survival in Congenital Heart Disease on Incidence of Disease.
Bregman, S, Frishman, WH
Cardiology in review. 2018;(2):82-85
Abstract
Survival rates and life expectancies for patients with congenital heart disease (CHD) have dramatically increased, and these patients are now reaching reproductive age. As they reproduce, questions pertaining to recurrent risk of disease and the impact on incidence rates have emerged. Recurrence rates for CHD have been estimated at 3% to 5%, although, due to the complex genetics underlying CHD, this range may represent an underestimation of the true risk. Debate still exists on whether the impact of recurrence of disease has been reflected in incidence rates. Although incidence rates have undoubtedly increased, the mechanism underlying this remains unclear; improved detection likely accounts for the majority of the observed increase; however, a true increase may be present simultaneously. Concurrently, certain factors, including improved fetal detection and elective terminations, infertility, increased rates of spontaneous abortion and intrauterine fetal demise in women with CHD, and folic acid supplementation, are leading to decreases in the incidence of CHD. It is likely that the full impact of improved survival and heritability of CHD on incidence rates remains to be seen and will likely be attenuated by other factors acting to decrease incidence.
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10.
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Çakmaklı, S, Çankaya, T, Gürsoy, S, Koç, A, Kırbıyık, Ö, Kılıçarslan, ÖA, Özer, E, Erçal, D, Bozkaya, ÖG
Cytogenetic and genome research. 2017;(4):175-180
Abstract
Ring chromosome 13 is a rare genetic condition with an incidence of 1/58,000 in live births. Major clinical features of patients with ring chromosome 13 include growth and developmental retardation, microcephaly, facial dysmorphism, ambiguous genitalia, anal atresia, eye malformations, retinoblastoma, and hand, foot, and toe abnormalities. The severity of the phenotype depends on the amount of genetic material lost during ring chromosome formation. Here, we report 2 cases with ring chromosome 13 at either end of the phenotypic spectrum.