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Background. Antiretroviral (ARV) regimens during pregnancy are highly effective in preventing mother-to-child transmission of human immunodeficiency virus (HIV). Congenital heart defects (CHDs) and anomalies in cardiac function have been reported in zidovudine (ZDV)–exposed uninfected children. We explored these associations in a large observational cohort and a randomized clinical trial. Methods. Since 1986, the French Perinatal Cohort prospectively enrolled all HIV-infected women in 90 centers and collected follow-up on their children through 2 years of age. All CHDs were reviewed by a specialist blinded to exposures. Additionally, in a randomized trial (PRIMEVA ANRS 135) of 2 ARV regimens during pregnancy, 1 of which was without nucleoside reverse transcriptase inhibitors, infants had a specific follow-up including echocardiography at 1 month and 12 months. Results. Among 12 888 children included, ZDV exposure in the first trimester was significantly associated with CHD (1.5% vs 0.7%; adjusted odds ratio, 2.2 [95% confidence interval, 1.3–3.7]; P < .001). This association was significant for ventricular septal defects (1.1% vs 0.6%; P = .001) and other CHDs (0.31% vs 0.11%; P = .02). In the randomized trial, among 50 infants, girls (but not boys) exposed in utero to ZDV/lamivudine/ritonavir-boosted lopinavir (LPV/r) had a higher left ventricular shortening fraction at 1 month (40% vs 36%; P = .008), and an increased posterior wall thickness at 1 year (5.4 mm vs 4.4 mm; P = .01) than the LPV/r group. Conclusions. This study confirms a specific association between in utero exposure to ZDV and CHDs, and a longlasting postnatal myocardial remodeling in girls. A potential common mechanism, including the involvement of mitochondrial dysfunction, must be explored, and long-term consequences on cardiac function warrant specific attention. Clinical Trials Registration. NCT00424814.

In this study, we aimed to explore regional differences in maternal lifestyle during pregnancy related to congenital heart defects (CHD) in Shaanxi province, Northwestern China. A large-scale epidemiologic survey of birth defects among infants born during 2010–2013, was conducted in Shaanxi province. Non-spatial and geographic weighted logistic regression models were used for analysis. The spatial model indicated that passive smoking frequency was positively associated with CHD for 43.3% of participants ( P  < 0.05), with the highest OR in North Shaanxi and the lowest in South Shaanxi. Approximately 49.2% of all mothers who ever drink tea were more likely to have an infant with CHD ( P  < 0.05), with the highest OR values observed in North and Central Shaanxi. Additionally, maternal alcohol intake frequency ≥ 1/week was significantly correlated with CHD among about 24.7% of participants ( P  < 0.05), with OR values ranging from 0.738 (Central Shaanxi) to 1.198 (North Shaanxi). The rates of unhealthy maternal lifestyles during pregnancy associated with CHD differed in various areas of the province. The role of geographical variations in these factors may provide some possible clues and basis for tailoring site-specific intervention strategies.

Background The population of adults with congenital heart disease (CHD) is growing, and increasingly more patients with CHD reach older ages. Patients with CHD are at an increased risk of myocardial infarction (MI) with increased age. Diagnosing MI in patients with CHD can be challenging in clinical practice owing to a high prevalence of aberrant electrocardiograms, ventricular hypertrophy, and heart failure, among other factors. The National Swedish Patient Register (NPR) is widely used in epidemiological studies; however, MI diagnoses specifically in patients with CHD have never been validated in the NPR. Methods We contacted hospitals and medical archive services to request medical records for 249 patients, born during 1970–2012, with both CHD and MI diagnoses and who were randomly selected from the NPR by the Swedish National Board of Health and Welfare. Follow-up was until 2015. We performed a medical chart review to validate the MI diagnoses; we also validated CHD diagnoses to ensure that only patients with confirmed CHD diagnoses were included in the MI validation process. Results We received medical records for 96.4% (n = 238/249) of patients for validation of CHD diagnoses. In total, 74.8% (n = 178/238) had a confirmed CHD diagnosis; of these, 70.2% (n = 167) had a fully correct CHD diagnosis in the NPR; a further 4.6% (n = 11) had a CHD diagnosis, but it was misclassified. MI diagnoses were validated in 167 (93.8%) patients with confirmed CHD. Of the patients with confirmed CHD, 88.0% (n = 147/167) had correct MI diagnoses. Patients with non-complex CHD diagnoses had more correct MI diagnoses than patients with complex CHD (91.0%, n = 131 compared with 69.6%, n = 16). The main cause for incorrect MI diagnoses was typographical error, contributing to 50.0% of the incorrect diagnoses. Conclusions The validity of MI diagnoses in patients with confirmed CHD in the NPR is high, with nearly 9 of 10 MI diagnoses being correct (88.0%). MI in patients with CHD can safely be studied using the NPR.

Background The identification and assessment of environmental risks are crucial for the primary prevention of congenital heart disease (CHD). We were aimed to establish a nomogram model for CHD in the offspring of pregnant women and validate it using a large CHD database in Northwest China. Methods A survey was conducted among 29,204 women with infants born between 2010 and 2013 in Shaanxi province, Northwest China. Participants were randomly assigned to the training set and to the validation set at a ratio of 7:3. The importance of predictive variables was assessed using random forest. A multivariate logistic regression model was used to construct the nomogram for the prediction of CHD. Results Multivariate analyses revealed that the gravidity, preterm birth history, family history of birth defects, infection, taking medicine, tobacco exposure, pesticide exposure and singleton/twin pregnancy were significant predictive risk factors for CHD in the offspring of pregnant women. The area under the receiver operating characteristic curve for the prediction model was 0.716 (95% CI: 0.671, 0.760) in the training set and 0.714 (95% CI: 0.630, 0.798) in the validation set, indicating moderate discrimination. The prediction model exhibited good calibration (Hosmer-Lemeshow χ 2  = 1.529, P  = 0.910). Conclusions We developed and validated a predictive nomogram for CHD in offspring of Chinese pregnant women, facilitating the early prenatal assessment of the risk of CHD and aiding in health education.

BackgroundCongenital heart defects (CHD) are common in patients with Down's syndrome; however, patients living in residential centres have not always been screened for CHD in the past. The aim of this study was to investigate the prevalence of CHD in patients with Down's syndrome living in residential centres, and to determine whether cardiac screening should be recommended.MethodsBetween January 2007 and November 2009 Dutch residential centres nationwide were randomly sampled. Medical files of all patients with Down's syndrome were investigated to retrieve documented information on known CHD. Echocardiography was performed on patients with unknown cardiac status. The main outcome measure was the number of newly diagnosed cases of CHD in adult patients with Down's syndrome.ResultsThirty-one centres and 1158 patients were included in the first stage of the study. Overall prevalence of known CHD was 16% (189 defects). Screening was performed in 138 patients without known CHD. In total, 24 new patients (17%) with a CHD were found, of which six patients needed semi-urgent care. Furthermore, 77% of the screened patients had mild to moderate regurgitation in one or more heart valves. Overall prevalence of CHD in adult Down's syndrome patients living in residential centres would be estimated at 33%.ConclusionsSeventeen per cent of patients with Down's syndrome living in residential centres had undiagnosed CHD, and valvular regurgitation was present in the majority of patients. Cardiac screening is recommended in older Down's syndrome patients, for whom new therapeutic options are available and for prevention of cardiac complications in old age.

We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone close to them. They also reported job losses or separations/divorces, for themselves or anyone close to them. Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, neural tube defects, and isolated cleft lip with or without palate. These associations tended to be restricted to women who were not obese and women with less than or equal to a high school education. This study suggests that women who experience stressful life events around the time of conception or early gestation may be at increased risk of delivering infants with certain congenital anomalies.

A cohort of 11,168 adolescent soccer players in the United Kingdom underwent cardiac screening. Diseases associated with sudden cardiac death were identified in 42 (0.38%). The incidence of sudden cardiac death was 1 per 14,800 person-years, or 6.8 per 100,000 athletes.

To assess the birth prevalence and spatial distribution of congenital heart disease (CHD) in China by conducting a complete overview and using spatial epidemiological methods. Unrestricted searches were conducted on seven electronic databases, with an end-date parameter of May 2019. Data on the birth prevalence of CHD and its subtypes were collected and combined using either the random-effect model or fixed-effect model. Subgroup sensitivity analyses were performed to explore potential heterogeneity moderators. The three-dimensional trend analysis and a visualization of CHD birth prevalence among different provinces were performed to describe the spatial distribution characteristics. Total 617 studies involving 76,961,354 births and 201,934 CHD individuals were included. Overall, total CHD birth prevalence increased continuously over time, from 0.201‰ in 1980–1984 to 4.905‰ in 2015–2019. The study on the high-income provinces, population-based monitoring model, male births, and urban regions reported a significantly higher prevalence of total CHD compared with upper-middle-income provinces, hospital-based monitoring model, female births, and rural regions, respectively. National CHD birth prevalence increased gradually from western region to eastern region, but decreased gradually from southern to northern region. Relevant heterogeneity moderators including gender, geographic region, income levels, and monitoring models have been identified by subgroup analyses. Sensitivity analysis yielded consistent results. Total CHD birth prevalence in China increases continuously in the past 40 years. Significant differences in gender, geographical regions, income levels, and monitoring models were found. In the future, population wide prospective birth defect registries covering the entire Chinese population need to determine the exact birth prevalence.

To synthesize evidence on the prevalence and incidence of physical health conditions in people with intellectual disability (ID). We searched Medline, PsycInfo, and Embase for eligible studies and extracted the prevalence, incidence, and risk of physical health conditions in people with ID. Of 131 eligible studies, we synthesized results from 77 moderate- to high-quality studies, which was mainly limited to high-income countries. The highest prevalence estimates were observed for epilepsy, ear and eye disorders, cerebral palsy, obesity, osteoporosis, congenital heart defects, and thyroid disorders. Some conditions were more common in people with a genetic syndrome. Compared with the general population, many health conditions occur more frequently among people with ID, including asthma and diabetes, while some conditions such as non-congenital circulatory diseases and solid cancers occur at the same or lower rate. The latter associations may reflect under-detection. People with ID have a health profile more complex than previously known. There is a pressing need for targeted, evidence-informed population health initiatives including preventative programs for this population.

Congenital anomalies contribute significantly to morbidity and mortality among newborns and infants. In Brazil, the estimated prevalence of malformations in newborns is < 1%, which is comparatively lower than that recorded in other regions worldwide. This study aimed to analyze the prevalence of congenital anomalies in Brazil over a 10-year period and to identify potential associations of this prevalence with socioeconomic, gestational, and regional factors by performing an analysis using data sourced from the Live Birth Information System (Sistema de Informações sobre os Nascidos Vivos - SINASC) covering the period from 2011 to 2020. From a total population of 29,025,461 live births, we included a cohort of 240,405 newborns with congenital anomalies. For the purpose of this study, we categorized newborns with congenital anomalies into two groups: one group with newborns with a single major malformation and another group with newborns with multiple major malformations (minor malformations not considered). The prevalence of congenital anomalies was 8.0 per 1,000 live births, with variations across different years and regions within the country. The Southeast region of Brazil, with the highest human development index, displayed the highest prevalence of congenital anomalies. The most frequent congenital anomalies were limb deformities (29.7%), neural tube defects (14.7%), and heart defects (11.6%). The prevalence of major congenital anomalies in Brazil during the study period varied with the geographic region and was lower than that in developed nations, likely due to lower prenatal detection rates and underreporting.