Evaluation of swallowing in infants with congenital heart defect.
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ABSTRACT:
SUBMITTER: Pereira Kda R
PROVIDER: S-EPMC4392504 | biostudies-other | 2015 Jan
REPOSITORIES: biostudies-other
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Project description:ObjectiveTo evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population.MethodsThe population-based surveillance data used in this assessment of CHDs were based on birth defect surveillance data collected from 2010-2012 in Liuyang City, China. Infants living with CHDs were followed up for 5 years to determine their prognosis. Prevalence, prenatal diagnosis, perinatal outcomes, and total and type-specific prognosis data were assessed using SPSS 18.0.ResultsIn total, 190 CHD cases were identified among the 53313 included perinatal infants (PIs), indicating a CHD prevalence of 35.64 per 10000 PIs in this non-selected population. The five most frequently identified types of CHDs were ventricular septal defects (VSDs, 38.95%), atrial septal defects (ASDs, 15.79%), cardiomegaly (7.89%), tetralogy of Fallot (TOF, 5.79%), and atrioventricular septal defects (AVSDs, 5.26%). Of the 190 CHD cases, 110 (57.89%) were diagnosed prenatally, 30 (15.79%) were diagnosed with associated malformations, and 69 (36.32%) resulted in termination of pregnancy (TOP). Moreover, 15 (7.89%) PIs died within 7 days after delivery, and 42 (22.10%) died within 1 year. In contrast, 79 (41.58%) were still alive after 5 years. When TOP cases were included, the 5-year survival rate of PIs with prenatally detected CHDs was lower than that of PIs with postnatally detected CHDs (25.45% vs. 63.75%). The CHD subtype associated with the highest rate of infant (less than 1 year old) mortality was transposition of the great arteries (100%). The subtypes associated with higher 5-year survival rates were patent ductus arteriosus (80%), ASD (63.33%), VSD (52.70%) and AVSD (50%).ConclusionsThe rates of prenatal CHD detection and TOP were high in this study population, and the 5-year survival rate of PIs with CHDs was low. The government should strengthen efforts to educate pediatricians regarding this issue and provide financial assistance to improve the prognosis of infants living with CHDs, especially during the first year of life.
| S-EPMC5462529 | biostudies-literature
Project description:In 2011, the US Secretary of Health and Human Services recommended universal screening of newborns for critical congenital heart defects (CCHDs), yet few estimates of the number of infants with CCHDs likely to be detected through universal screening exist. Our objective was to estimate the number of infants with nonsyndromic CCHDs in the United States likely to be detected (true positives) and missed (false negatives) through universal newborn CCHD screening.We developed a simulation model based on estimates of birth prevalence, prenatal diagnosis, late detection, and sensitivity of newborn CCHD screening through pulse oximetry to estimate the number of true-positive and false-negative nonsyndromic cases of the 7 primary and 5 secondary CCHD screening targets identified through screening.We estimated that 875 (95% uncertainty interval [UI]: 705-1060) US infants with nonsyndromic CCHDs, including 470 (95% UI: 360-585) infants with primary CCHD screening targets, will be detected annually through newborn CCHD screening. An additional 880 (UI: 700-1080) false-negative screenings, including 280 (95% UI: 195-385) among primary screening targets, are expected. We estimated that similar numbers of CCHDs would be detected under scenarios comparing "lower" (?19%) and "higher" (?41%) than current prenatal detection prevalences.A substantial number of nonsyndromic CCHD cases are likely to be detected through universal CCHD screening; however, an equal number of false-negative screenings, primarily among secondary targets of screening, are likely to occur. Future efforts should document the true impact of CCHD screening in practice.
| S-EPMC4470502 | biostudies-other
Project description:Ventricular Septal Defect (VSD), the most common congenital heart defect, is characterized by a hole in the septum between the right and left ventricles. The pathogenesis of VSD is unknown in most clinical cases. There is a paucity of data relevant to epigenetic changes in VSD. The placenta is a fetal tissue crucial in cardiac development and a potentially useful surrogate for evaluating the development of heart tissue. To understand epigenetic mechanisms that may play a role in the development of VSD, genome-wide DNA methylation assay on placentas of 8 term subjects with isolated VSD and no known or suspected genetic syndromes and 10 unaffected controls was performed using the Illumina HumanMethylation450 BeadChip assay. We identified a total of 80 highly accurate potential CpGs in 80 genes for detection of VSD; area under the receiver operating characteristic curve (AUC ROC) 1.0 with significant 95% CI (FDR) p-values < 0.05 for each individual locus. The biological processes and functions for many of these differentially methylated genes are previously known to be associated with heart development or disease, including cardiac ventricle development (HEY2, ISL1), heart looping (SRF), cardiac muscle cell differentiation (ACTC1, HEY2), cardiac septum development (ISL1), heart morphogenesis (SRF, HEY2, ISL1, HEYL), Notch signaling pathway (HEY2, HEYL), cardiac chamber development (ISL1), and cardiac muscle tissue development (ACTC1, ISL1). In addition, we identified 8 microRNAs that have the potential to be biomarkers for the detection of VSD including: miR-191, miR-548F1, miR-148A, miR-423, miR-92B, miR-611, miR-2110, and miR-548H4. To our knowledge this is the first report in which placental analysis has been used for determining the pathogenesis of and predicting VSD.
| S-EPMC6428297 | biostudies-literature
Project description:Feeding and swallowing difficulties are commonly reported as comorbidities in infants and children with congenital heart disease. These difficulties have negative health consequences for the child and impact the quality of life of both the child and caregivers. This scoping review presents an integrated summary of the published literature on the prevalence of feeding and swallowing difficulties in congenital heart disease. Fifteen peer-reviewed articles, written in English and published in the last 25 years, were included in the review, following a search of relevant databases. The studies reported on a total of 1,107 participants across the articles ranging in age from premature infants to children aged 17 years. An overall pooled prevalence of 42.9% feeding and swallowing difficulties was reported, with a prevalence of 32.9% reporting aspiration. A wide prevalence range of feeding and swallowing difficulties was reported across the articles and factors that contributed to this included the ages of participants, and the definition and assessment of feeding and swallowing difficulties used in the studies. The review confirms that feeding and swallowing difficulties are common in infants and children with congenital heart defects, and that assessment and management of these difficulties should be considered part of the standard of care.
| S-EPMC9016225 | biostudies-literature
Project description:AimTo report neurological examination findings at 5 to 12 months of age in infants with congenital heart disease (CHD) and to identify predictors of abnormal neurological examination.MethodThis retrospective observational study included infants who required cardiac surgery at less than 3 months of age and underwent a standard neurological examination from a neurologist in the cardiac neurodevelopmental outpatient clinic between age 5 months and 12 months. Predictors for abnormal neurological examination (concerns on structured developmental history, demographic factors, medical history, and newborn neurodevelopmental assessment) were considered for multivariate regression.ResultsThe sample included 127 infants (mean age 7mo 2wks), who underwent first cardiac surgery at 7 days (4-49 interquartile range [IQR]) of age and were seen for a neurological examination in the cardiac neurodevelopmental clinic. Neurological abnormalities were common; 88% of infants had an abnormal neurological examination in at least one domain assessed. The most common abnormalities were abnormal axial (48%) and extremity (44%) tone, mostly hypotonia. Abnormal neurological examination was associated with concerns on the concurrent structured developmental history, genetic condition, extracardiac anomaly, longer length of stay, more than one cardiac surgery, ongoing early intervention services, and abnormalities on newborn neurodevelopmental assessment.InterpretationNeurological examination abnormalities are common in infants with CHD after infant heart surgery, supporting the need for early and ongoing therapeutic developmental services and adherence to American Heart Association recommendations for developmental follow-up for children with CHD. What this paper adds Neurological examination abnormalities are common in infants who undergo open-heart surgery. Medical complications in infancy increase risk for neurological abnormalities. Family-reported concerns on structured developmental history may predict abnormal neurological examination at 5 to 12 months of age. Abnormal newborn neurodevelopmental assessment may predict abnormal neurological examination at 5 to 12 months of age.
| S-EPMC9086097 | biostudies-literature
Project description:Heart development is a complex process requiring dynamic transcriptional regulation. Disturbance of this process will lead to severe developmental defects such as congenital heart disease/defect (CHD). CHD is a group of complex disorder with high genetic heterogeneity, common pathways associated with CHD remains largely unknown. In the manuscript, we focused on the tissue specific genes in human fetal heart samples to explore such pathways. We used the RNA microarray dataset of human fetal tissues from ENCODE project to identify genes with heart tissue specific expression. A transcriptional network was constructed for these genes based on the Pearson correlation coefficients of their expression levels. Function, selective constraints and disease associations of these genes were then examined. Our analysis identified a network consisted of 316 genes with human fetal heart specific expression. The network was highly co-regulated and showed evolutionary conserved tissue expression pattern in tetrapod. Genes in this network are enriched in CHD specific genes and disease mutations. Using the transcriptomic data, we discovered a highly concerted gene network that might reflect a common pathway associated with the etiology of CHD. Such analysis should be helpful for disease associated gene identification in clinical studies.
| S-EPMC5402266 | biostudies-literature
Project description:BackgroundCongenital heart defects (CHDs) affect 40 000 US births per year, half of which require surgical intervention. Individual differences in surgical outcomes including mortality and complications are not well understood but may be due to genetic variability. We hypothesized that polygenic risk scores (PRSs) for blood pressure in adults are associated with treatments and postsurgical outcomes in children with CHD, as CHD survivors are at higher risk of negative cardiometabolic disease.MethodsWe used imputed genotype data from pediatric participants requiring surgery for CHD (median age at surgery, 201 days; nmax=2498). Base data for the systolic and diastolic blood pressure PRSs (nmax=760 226) came from published genome-wide association study. The blood pressure PRSs were tested for association with postsurgical outcomes. All effects presented are per SD increase in PRS and adjusted for age, sex, body mass index, surgical complexity score, and first 10 principal components of ancestry.ResultsA higher diastolic blood pressure PRS was associated with decreased in-hospital mortality risk (odds ratio, 0.57 [0.39-0.82]; P=0.0022). Additional analyses suggest an interaction between diastolic blood pressure PRS and vasopressor dose. Those with a diastolic blood pressure PRS 1 SD above the mean, receiving a vasopressor dose in the top tertile, were estimated to have 52% (32%-66%) lower risk of in-hospital mortality compared with those with a vasopressor dose in the bottom tertile.ConclusionsThese results suggest a genetically determined postsurgical survival advantage for CHD patients with blood pressure increasing alleles. Further study may reveal novel mechanisms contributing to postoperative morbidity and mortality, and this approach may assist in early identification of children at risk for adverse postoperative outcomes.
| S-EPMC9811841 | biostudies-literature
Project description:BackgroundCongenital heart defects (CHDs) are common birth defects and are associated with high hospital costs. The objectives of this study were to assess hospitalization costs, across the lifespan, of patients with CHDs in Arkansas.MethodsData from the 2006 to 2011 Healthcare Cost and Utilization Project Arkansas State Inpatient Databases were used. We included hospitalizations of patients whose admission occurred between January 1, 2006, and December 31, 2011, and included a principal or secondary CHD ICD-9-CM diagnosis code (745.0-747.49, except 747.0 and 745.5 for preterm infants). Hospitalizations were excluded if they involved out-of-state residents, normal newborn births, or if missing data included age at admission, state of residence, or hospital charges. Children were defined as those < 18 years-old at time of admission.ResultsBetween 2006 and 2011, there were 2,242,484 inpatient hospitalizations in Arkansas. There were 9071 (0.4%) hospitalizations with a CHD, including 5,158 hospitalizations of children (2.2% of hospitalizations among children) and 3,913 hospitalizations of adults (0.2% of hospitalizations of adults). Hospital costs for these CHD hospitalizations totaled $355,543,696. The average annual cost of CHD hospitalizations in Arkansas was $59,257,283 during this time period. Infants accounted for 72% of all CHD-related hospital costs; total costs of CHD hospitalizations for children were almost five times those of hospitalization costs for adults with CHD.ConclusionHospitalizations with CHDs account for a disproportionate share of hospital costs in Arkansas. Hospitalizations of children with CHD accounted for a higher proportion of total hospitalizations than did hospitalizations of adults with CHD.
| S-EPMC4565745 | biostudies-literature
Project description:BackgroundThe larger size of the currently available transesophageal echocardiography (TEE) probes limits their use to relatively older infants undergoing cardiac surgery. In very young neonates and infants, epicardial echocardiogram is used to assess postoperative residual defects. Recently, a miniaturized microTEE probe compatible in neonates has been introduced for clinical use. We evaluated the use of this probe in small infants undergoing cardiac surgery.Materials and methodsThirty-three consecutive neonates and infants undergoing cardiac surgery at our institution were included in the study. Intraoperative echocardiography with Philips s8-3t microTEE probe done using IE33 platform was utilized to study the preoperative anatomy and assess postoperative results.ResultsThirty-three patients aged 3 days-2 years (mean 5.1 months) and weighing 2.5-11 kg (mean 4.4 kg) underwent perioperative evaluation using the microTEE probe. Good quality two-dimensional and color Doppler images were obtained in all patients. There were no complications related to the probe insertion or manipulation. The findings on microTEE led to revision of surgery in five patients. Certain echocardiographic parameters that could never be recorded with epicardial echocardiogram could be easily seen in microTEE.ConclusionOn preliminary evaluation, the microTEE probe provided good quality images in very small infants who were not amenable for transesophageal echocardiographic evaluation so far. The probe could be used safely in small infants without complications. It appears to be a promising imaging modality in the perioperative assessment of young infants undergoing cardiac surgery, in whom intraoperative epicardial echocardiography is currently the only tool.
| S-EPMC4189233 | biostudies-literature
Project description:Background:Femaleinfantswith congenital heart disease (CHD)facesignificantlyhigherpostoperativemortality ratesafter adjusting for cardiac complexity.Sex differences in metabolic adaptation to cardiac stressors maybe an earlycontributor tocardiac dysfunction.In adult diseases, hypoxic/ischemic cardiomyocytesundergo acardioprotectivemetabolicshift fromoxidative phosphorylation to glycolysiswhichappears to be regulated in a sexually dimorphic manner.We hypothesizesex differences incardiacmetabolismare presentincyanotic CHDand detectable asearly as theinfantperiod. Methods:RNA sequencingwas performedon blood samples(cyanotic CHD cases,n=11;controls,n=11)andanalyzedusinggene set enrichment analysis (GSEA). Global plasma metaboliteprofiling(UPLC-MS/MS)was performedusinga larger representative cohort(cyanotic CHD,n = 27;non-cyanotic CHD,n = 11;unaffectedcontrols,n = 12). Results:Hallmark gene sets in glycolysis, fatty acid metabolism, and oxidative phosphorylationwere significantly enrichedincyanotic CHDfemales compared to malecounterparts, which was consistent withmetabolomicdifferences between sexes.Minimalsex differencesinmetabolicpathwayswereobservedinnormoxicpatients(bothcontrols and non-cyanotic CHDcases). Conclusion:These observationssuggestunderlying differences inmetabolicadaptationtochronic hypoxiabetween males and females withcyanotic CHD.
2024-07-01 | GSE269353 | GEO