Severity Of Congenital Heart Defects Research Articles

Abstract 4139179: Is Prenatal Diagnosis Responsible for Differences in Timing to Postnatal Intervention for Critical Congenital Heart Defects?

Introduction: The relationships between prenatal diagnosis of congenital heart defects (CHDs) and outcomes are inconsistent. Some studies have shown that compared to postnatal diagnosis, prenatal diagnosis is associated with later surgical timing and worse outcomes. These findings could be due to confounding because more severe CHDs are likelier to be diagnosed on prenatal ultrasonography. To bypass this confounding, we evaluated prenatal diagnosis as a mediator. Aim: To evaluate whether prenatal diagnosis of CHD mediates the association between disease severity and timing to postnatal intervention. Hypothesis: Infants with severe CHD receive intervention sooner than those with mild CHD due to a higher prenatal diagnosis prevalence. Methods: This is a retrospective cohort study of all infants who received their initial cardiac catheterization or surgery between 0-60 days (i.e., critical CHD) at Ann&Robert H. Lurie Children’s Hospital of Chicago (2015-2021). Birthing individuals with inadequate prenatal care were excluded. The primary exposure variable was a three-level categorical variable derived from existing literature, categorizing disease severity based on anatomic factors (mild, moderate, and severe CHD). The outcome was age at intervention, i.e., cardiac catheterization or surgery, whichever occurred sooner, in days. The mediator variable was whether prenatal diagnosis occurred. Control variables included birth weight, sex, surgery during the COVID-19 pandemic, race, ethnicity, birth hospital’s level of perinatal care as designated by Illinois state, presence of a syndrome or non-cardiac abnormality, and insurance status. Results: In total, 429 parent-infant pairs met inclusion criteria; 68.3% had prenatal diagnosis and 28.4% had severe CHD. In adjusted analyses, compared to those with the mild CHD, those with moderate CHD had 40.0% higher probability of prenatal diagnosis (p<0.001) and on average, received intervention 14 days sooner (p=0.001). Those with severe CHD had a 59.5% higher probability of prenatal diagnosis (p<0.001), and on average received intervention 19 days sooner (p<0.001). In a mediation analysis, prenatal diagnosis accounted for 27.2% of the difference in surgical timing between moderate and mild disease, and 29.5% of the difference in surgical timing between severe and mild disease ( Figure 1 ). Conclusion: The relationship between CHD severity and timing to postnatal intervention is partly attributable to prenatal diagnosis.

Abstract 4123182: Women with Severe Congenital Heart Disease Have Increased Risk of Fetal/Neonatal Death

Background: Women with congenital heart defects (CHD) now routinely survive to reproductive age. Offspring of these women have more complications, including but not limited to inherited CHD, prematurity, small for gestational age (SGA), and fetal/neonatal death. In the United States, pregnancy-related complications and death are more common in Black women and their offspring compared to White women and their offspring, and in those residing in rural areas compared to urban areas. Aims: This study evaluates fetal/neonatal outcomes among women with CHD covered by Georgia Medicaid at the time of pregnancy, looking for differences among racial, geographic, and CHD severity groups. Methods: This retrospective cohort study identified 4581 women with CHD aged 11-50 with 6522 pregnancies (28.5% with severe CHD, 50.9% Black, 23.2% rural) covered by Georgia Medicaid between 2008-2019. Fetal/neonatal death, defined as fetal death after 20 weeks gestation, stillbirth, or neonatal death, was examined by CHD severity, race, and rurality using chi-square analysis. Multivariate logistic regression models were conducted adjusting for age at first documented pregnancy, social deprivation index (SDI), number of pregnancies, and multiple gestations. Results: Of 6522 pregnancies, 3.0% resulted in fetal/neonatal death. Fetal/neonatal death was more common in women with severe CHD compared to those with non-severe CHD (4.1% severe vs. 2.6% non-severe [aOR 1.39, 95% CI 1.02-1.85, p = 0.0018]). No significant differences were revealed in fetal/neonatal death between racial (3.3% Black vs. 2.8% White) or geographic (2.9% rural vs. 3.1% urban) groups after controlling for other variables. Conclusions: Compared to reported fetal and neonatal death rates among all U.S. pregnancies in 2019, women with CHD experienced a higher rate of fetal/neonatal death. Fetal/neonatal death was even more prevalent for women with severe CHD (4.1%) versus women with non-severe CHD (2.6%). Women with CHD, especially those with severe disease, have a high risk of fetal/neonatal death and should be monitored closely throughout the course of pregnancy.

Trends in Nutritional Status and Dietary Behavior in School-Aged Children with Congenital Heart Defects.

Background: Malnutrition and poor weight gain has been reported in infants with congenital heart defects (CHDs); however data in older children with CHDs are limited. In order to obtain representative data on the nutritional status, dietary behavior, and potential influencing factors in school-aged children with CHDs, we performed a nationwide online survey. Methods: Patients aged 6 to 17 years registered in the German National Register for CHDs were asked to participate in this study by completing the German Health Interview and Examination Survey for Children and Adolescents (KiGGS) eating study questionnaire in order to assess their self-reported dietary habits. The use of the same questionnaire enabled a comparison with a representative subset of 4569 participants of the KiGGS study. Results: A total of 894 patients (mean age 12.5 ± 3.0 years; 47.2% female) were enrolled. Patients were allocated according to anatomic complexity into simple (23.8%), moderate (37.8%), and complex CHDs (38.4%). The consumption of sugar-containing food (p < 0.001) and fast food (p < 0.05) was significantly lower among the CHD patients than in the healthy children. Children with CHDs showed significantly lower body mass index (BMI) percentiles (p < 0.001) compared with their healthy peers, while children with complex and moderate CHDs had the lowest BMI. While in CHD patients, the BMI percentiles were not related to unhealthy food, there was a strong correlation with the CHD severity and number of previous interventions (p < 0.01). Conclusions: According to this nationwide survey, school-aged children with complex CHD are at risk of undernutrition, which is not due to dietary habits but to CHD severity and repeated surgery.

Congenital Heart Defects and Concurrent Diagnoses in Influenza Hospitalization in the Pediatric Health Information System Study, 2004-2019.

Influenza is associated with adverse outcomes in children, although modification by additional medical conditions is not well-documented. We aimed to compare outcomes in children with versus without congenital heart defects (CHDs) who were hospitalized for influenza. We retrospectively evaluated patients 1-18y hospitalized for influenza in the Pediatric Health Information (PHIS) databasefrom 2004to2019. Outcomes were compared by CHD presence and then by CHD severity (minor biventricular, major biventricular, and single ventricle disease) using log-binomial regression adjusted for propensity scores accounting for ageat admission, sex, and history of asthma. Outcomes included inpatient mortality, intensive care unit (ICU) admission, mechanical ventilation, and length of stay (LOS) > 12days. To evaluate foreffect modification by genetic diagnoses, analyses were repeated stratified by CHD and genetic diagnosis. Among 55,161 children hospitalized for influenza, 2369 (4.3%) had CHDs, including 963 with minor biventricular, 938 with major biventricular, and 468 with single ventricle CHDs. Adjusting for propensity scores, children with CHDs had higher mortality (4.1% versus 0.9%) compared to those without CHDs (risk ratio [RR] 2.5, 95% confidence interval [CI] 1.9-3.4). Children with CHDs were at higher risk of mechanical ventilation (RR 1.6, 95% CI 1.6-1.7), ICU admission (RR 1.9, 95% CI 1.8-2.1), and LOS > 12days (RR 2.2, 95% CI 2.0-2.3). Compared to those with neither CHD nor genetic condition, children with both had significantly higher risk of all outcomes, with the largest difference for LOS > 12days (RR 2.3, 95% CI 2.0-2.7). Children with CHDs hospitalized for influenza are particularly susceptible to adverse outcomes compared to those without CHDs. Future studies are needed to corroborate findings in light of influenza vaccination.

Perinatal deaths attributable to congenital heart defects in Hunan Province, China, 2016-2020.

To explore the association between demographic characteristics and perinatal deaths attributable to congenital heart defects (CHDs). Data were obtained from the Birth Defects Surveillance System of Hunan Province, China, 2016-2020. The surveillance population included fetuses and infants from 28 weeks of gestation to 7 days after birth whose mothers delivered in the surveillance hospitals. Surveillance data included demographic characteristics such as sex, residence, maternal age, and other key information, and were used to calculate the prevalence of CHDs and perinatal mortality rates (PMR) with 95% confidence intervals (CI). Multivariable logistic regression analysis (method: Forward, Wald, α = 0.05) and adjusted odds ratios (ORs) were used to identify factors associated with perinatal deaths attributable to CHDs. This study included 847755 fetuses, and 4161 CHDs were identified, with a prevalence of 0.49% (95%CI: 0.48-0.51). A total of 976 perinatal deaths attributable to CHDs were identified, including 16 (1.64%) early neonatal deaths and 960 (98.36%) stillbirths, with a PMR of 23.46% (95%CI: 21.98-24.93). In stepwise logistic regression analysis, perinatal deaths attributable to CHDs were more common in rural areas than urban areas (OR = 2.21, 95%CI: 1.76-2.78), more common in maternal age <20 years (OR = 2.40, 95%CI: 1.05-5.47), 20-24 years (OR = 2.13, 95%CI: 1.46-3.11) than maternal age of 25-29 years, more common in 2 (OR = 1.60, 95%CI: 1.18-2.18) or 3 (OR = 1.43, 95%CI: 1.01-2.02) or 4 (OR = 1.84, 95%CI: 1.21-2.78) or > = 5 (OR = 2.02, 95%CI: 1.28-3.18) previous pregnancies than the first pregnancy, and more common in CHDs diagnosed in > = 37 gestional weeks (OR = 77.37, 95%CI: 41.37-144.67) or 33-36 gestional weeks (OR = 305.63, 95%CI: 172.61-541.15) or < = 32 gestional weeks (OR = 395.69, 95%CI: 233.23-671.33) than diagnosed in postnatal period (within 7 days), and less common in multiple births than singletons (OR = 0.48, 95%CI: 0.28-0.80). Perinatal deaths were common in CHDs in Hunan in 2016-2020. Several demographic characteristics were associated with perinatal deaths attributable to CHDs, which may be summarized mainly as economic and medical conditions, severity of CHDs, and parental attitudes toward CHDs.

Abstract 13983: Reproductive Health Counseling and Experiences Among Females With Congenital Heart Defects: Results From the Congenital Heart Survey to Recognize Outcomes, Needs, and Well-Being

Introduction: The American Heart Association (AHA) recommends clinicians discuss reproductive health with women with congenital heart defects (CHD) beginning in adolescence due to their unique pregnancy and contraceptive needs. Therefore, we assessed reproductive health counseling and experiences among women with CHD, and differences by CHD severity. Methods: Women with CHD ages 19 to 38 years, identified in active, population-based birth defects registries from Arkansas, Arizona, and Atlanta, GA, completed the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) from 2016 to 2019, including questions about reproductive health counseling, concerns and experiences. Prevalence estimates standardized to all CH STRONG-eligible women and adjusted prevalence ratios (aPR), calculated with multivariable Poisson regression, assessed differences by CHD severity. Results: Of 765 female respondents, 40.7% were 19-24 years, 66.7% were non-Hispanic white, and 67.7% had &gt; high school education. Overall, 21.3% received CHD-specific contraceptive counseling, 28.3% pregnancy counseling, and 12.8% advice to avoid pregnancy (Fig). Women with severe, compared to non-severe CHD, were more likely to receive clinician counseling about safe contraception (aPR=3.0, 95% confidence interval [CI]: 2.2-4.0), pregnancy (aPR=3.5, 95% CI: 2.7-4.6), and advice to avoid pregnancy (aPR=4.3, 95% CI: 2.9-6.5), and they were more likely to be concerned about their ability to have children (aPR=1.4, 95% CI: 1.1-1.8) and delay/avoid pregnancy (aPR=2.2, 95% CI: 1.5-3.2). No differences were seen in ever being pregnant (aPR=0.83, 95% CI: 0.6-1.1). Conclusions: Results suggest most women with CHD are not receiving AHA-recommended reproductive health counseling. Almost one in three women with severe CHD received clinician advice to avoid pregnancy, although AHA guidelines state pregnancy is contraindicated for few women with CHD.

Standardized Treatment andDiagnostic Approach to Reduce Disease burden in the early postoperative phase in children with congenital heart defects—STANDARD study: a pilot randomized controlled trial

To explore the effect of a daily goal checklist on pediatric cardiac intensive care unit (PCICU) length of stay (LOS) after congenital heart surgery. This study is a prospective randomized single-center study. Group characteristics were as follows: STANDARD group: n = 30, 36.7% female, median age 0.9 years; control group: n = 33, 36.4% female, median age 1.1 years. Invasive ventilation time, STAT categories, mean vasoactive-inotropic score (VIS)24h, maximal (max.) VIS24h, mean VIS24–48h, max. VIS24–48h, VIS category, number of sedatives, analgesics, diuretics, number of deployed diagnostic modalities, morbidities, and mortality did not differ between both groups. Median PCICU LOS was 96.0 h (STANDARD group) versus 101.5 h (control group) (p = 0.63). In the overall cohort, univariate regression analysis identified age at surgery (b = −0.02), STAT category (b = 18.3), severity of CHD (b = 40.6), mean VIS24h (b = 3.5), max. VIS24h (b = 2.2), mean VIS24–48h (b = 6.5), and VIS category (b = 13.8) as significant parameters for prolonged PCICU LOS. In multivariate regression analysis, age at surgery (b = −0.2), severity of CHD (b = 44.0), and mean VIS24h (b = 6.7) were of significance. Within the STANDARD sub-group, univariate regression analysis determined STAT category (b = 32.3), severity of CHD (b = 70.0), mean VIS24h (b = 5.0), mean VIS24–48h (b = 5.9), number of defined goals (b = 2.6), number of achieved goals (b = 3.3), number of not achieved goals (b = 10.8), and number of unevaluated goals (b = 7.0) as significant parameters for prolonged PCICU LOS. Multivariate regression analysis identified the number of defined goals (b = 2.5) and the number of unevaluated goals (b = −3.0) to be significant parameters. Conclusion: The structured realization and recording of daily goals is of advantage in patients following pediatric cardiac surgery by reducing PCICU LOS.What is known:• Communication errors are the most frequent reasons for adverse events in intensive care unit patients.• Improved communication can be achieved by discussion and documentation of the patients’ goals during daily rounds.What is new:• In the overall cohort age at surgery, severity of congenital heart defect and mean vasoactive inotropic score within the first 24 hours had significant impact on pediatric cardiac intensive care unit (PCICU) length of stay (LOS).• In the intervention group, the number of defined goals and the number of unevaluated goals were significant parameters for prolonged PCICU LOS.

Neighborhood social deprivation and healthcare utilization, disability, and comorbidities among young adults with congenital heart defects: Congenital heart survey to recognize outcomes, needs, and well-being 2016-2019.

Research on the association between neighborhood social deprivation and health among adults with congenital heart defects (CHD) is sparse. We evaluated the associations between neighborhood social deprivation and health care utilization, disability, and comorbidities using the population-based 2016-2019 Congenital Heart Survey To RecognizeOutcomes, Needs, and well-beinG (CH STRONG) of young adults. Participants were identified from active birth defect surveillance systems in three U.S. sites and born with CHD between 1980 and 1997. We linked census tract-level 2017 American Community Survey information on median household income, percent of ≥25-year-old with greater than a high school degree, percent of ≥16-year-olds who are unemployed, and percent of families with children <18 years old living in poverty to survey data and used these variables to calculate a summary neighborhood social deprivation z-score, divided into tertiles. Adjusted prevalence ratios (aPR) and 95% confidence intervals (CI) derived from a log-linear regression model with a Poisson distribution estimated the association between tertile of neighborhood social deprivation and healthcare utilization in previous year (no encounters, 1 and ≥2 emergency room [ER] visits, and hospital admission), ≥1 disability, and ≥1 comorbidities. We accounted for age, place of birth, sex at birth, presence of chromosomal anomalies, and CHD severity in all models, and, additionally educational attainment and work status in all models except disability. Of the 1435 adults with CHD, 43.8% were 19-24 years old, 54.4% were female, 69.8% were non-Hispanic White, and 33.7% had a severe CHD. Compared to the least deprived tertile, respondents in the most deprived tertile were more likely to have no healthcare visit (aPR: 1.5 [95% CI: 1.1, 2.1]), ≥2 ER visits (1.6 [1.1, 2.3]), or hospitalization (1.6 [1.1, 2.3]) in the previous 12 months, a disability (1.2 [1.0, 1.5]), and ≥1 cardiac comorbidities (1.8 [1.2, 2.7]). Neighborhood social deprivation may be a useful metric to identify patients needing additional resources and referrals.

Survival From Birth Until Young Adulthood Among Individuals With Congenital Heart Defects: CH STRONG.

Limited population-based information is available on long-term survival of US individuals with congenital heart defects (CHDs). Therefore, we assessed patterns in survival from birth until young adulthood (ie, 35 years of age) and associated factors among a population-based sample of US individuals with CHDs. Individuals born between 1980 and 1997 with CHDs identified in 3 US birth defect surveillance systems were linked to death records through 2015 to identify those deceased and the year of their death. Kaplan-Meier survival curves, adjusted risk ratios (aRRs) for infant mortality (ie, death during the first year of life), and Cox proportional hazard ratios for survival after the first year of life (aHRs) were used to estimate the probability of survival and associated factors. Standardized mortality ratios compared infant mortality, >1-year mortality, >10-year mortality, and >20-year mortality among individuals with CHDs with general population estimates. Among 11 695 individuals with CHDs, the probability of survival to 35 years of age was 81.4% overall, 86.5% among those without co-occurring noncardiac anomalies, and 92.8% among those who survived the first year of life. Characteristics associated with both infant mortality and reduced survival after the first year of life, respectively, included severe CHDs (aRR=4.08; aHR=3.18), genetic syndromes (aRR=1.83; aHR=3.06) or other noncardiac anomalies (aRR=1.54; aHR=2.53), low birth weight (aRR=1.70; aHR=1.29), and Hispanic (aRR=1.27; aHR=1.42) or non-Hispanic Black (aRR=1.43; aHR=1.80) maternal race and ethnicity. Individuals with CHDs had higher infant mortality (standardized mortality ratio=10.17), >1-year mortality (standardized mortality ratio=3.29), and >10-year and >20-year mortality (both standardized mortality ratios ≈1.5) than the general population; however, after excluding those with noncardiac anomalies, >1-year mortality for those with nonsevere CHDs and >10-year and >20-year mortality for those with any CHD were similar to the general population. Eight in 10 individuals with CHDs born between1980 and 1997 survived to 35 years of age, with disparities by CHD severity, noncardiac anomalies, birth weight, and maternal race and ethnicity. Among individuals without noncardiac anomalies, those with nonsevere CHDs experienced similar mortality between 1 and 35 years of age as in the general population, and those with any CHD experienced similar mortality between 10 and 35 years of age as in the general population.

Nationwide Survey Reveals High Prevalence of Non-Swimmers among Children with Congenital Heart Defects.

Physical activity is important for children with congenital heart defects (CHD), not only for somatic health, but also for neurologic, emotional, and psychosocial development. Swimming is a popular endurance sport which is in general suitable for most children with CHD. Since we have previously shown that children with CHD are less frequently physically active than their healthy peers, we hypothesized that the prevalence of non-swimmers is higher in CHD patients than in healthy children. To obtain representative data, we performed a nationwide survey in collaboration with the German National Register of Congenital Heart Defects (NRCHD) and the Institute for Sport Sciences of the Karlsruhe Institute for Technology (KIT). The questionnaire included questions capturing the prevalence of swimming skills and the timing of swim learning and was part of the "Motorik-Modul" (MoMo) from the German Health Interview and Examination Survey for Children and Adolescents (KiGGS). A representative age-matched subset of 4569 participants of the MoMo wave two study served as a healthy control group. From 894 CHD-patients (mean age of 12.5 ± 3.1 years), the proportion of non-swimmers in children with CHD was significantly higher (16% versus 4.3%; p < 0.001) compared to healthy children and was dependent on CHD severity: Children with complex CHD had an almost five-fold increased risk (20.4%) of being unable to swim, whereas in children with simple CHD, the ability to swim did not differ significantly from their healthy reference group (5.6% vs. 4.3% non-swimmers (p = not significant). According to our results, one in five patients with complex CHD are non-swimmers, a situation that is concerning in regard of motoric development, inclusion and integration, as well as prevention of drowning accidents. Implementation of swim learning interventions for children with CHD would be a reasonable approach.

Reproductive Health Counseling and Concerns Among Women with Congenital Heart Defects With and Without Disabilities.

Background: Women with disabilities are less likely to receive reproductive health counseling than women without disabilities. Yet, little is known about reproductive health counseling and concerns among women with congenital heart defects (CHD) and disabilities. Methods: We used population-based survey data from 778 women aged 19 to 38 years with CHD to examine contraceptive and pregnancy counseling and pregnancy concerns and experiences by disability status, based on six validated questions on vision, hearing, mobility, cognition, self-care, and living independently. Multivariable Poisson regression was used to examine adjusted prevalence ratios between disability status and each outcome, adjusted for CHD severity, age, race/ethnicity, place of birth (Arkansas, Arizona, Georgia), and insurance type. Results: Women with disabilities (n = 323) were 1.4 and 2.3 times more likely than women without disabilities (n = 455) to receive clinician counseling on safe contraceptive methods and avoiding pregnancy because of their CHD. Women with CHD and disabilities, compared to those without disabilities, were more likely to be concerned about their ability to have children (aPR = 1.2) and to have delayed or avoided pregnancy (aPR = 2.2); they were less likely to have ever been pregnant (aPR = 0.7). Associations differed slightly across specific disability types. All associations remained after excluding 71 women with chromosomal anomalies. Conclusion: Among women with CHD, reproductive counseling, concerns, and experiences differ by disability status.

Intellectual disabilities and autism among children with congenital heart defects, Western Australia, 1983–2010

BackgroundChildren with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.MethodsWe conducted a retrospective cohort study of singleton live births in Western Australia (n = 20,592) between 1983 and 2010. Children with CHDs were identified from the Western Australian Register for Developmental Anomalies (n = 6563) and infants without CHDs were randomly selected from state birth records (n = 14,029). Children diagnosed with ID before 18 years were identified by linkage to statewide Intellectual Disability Exploring Answers database. Odds ratios (OR) and 95% confidence intervals (CI) were calculated from logistic regression models for all CHDs combined and by CHD severity adjusting for potential confounders.ResultsOf 20,592 children, 466 (7.1%) with CHDs and 187 (1.3%) without CHDs had an ID. Compared to children without CHDs, children with any CHD had 5.26 times (95% CI 4.42, 6.26) the odds of having an ID and 4.76 times (95% CI 3.98, 5.70) the odds of having mild/moderate ID. Children with any CHD had 1.76 times the odds of having autism (95% CI 1.07, 2.88), and 3.27 times the odds of having an unknown cause of ID (95% CI 2.65, 4.05) compared to children without CHD. The risk of having autism (aOR 3.23, 95% CI 1.11, 9.38), and unknown cause of ID (aOR 3.45, 95% CI 2.09, 5.70) was greatest for children with mild CHD.ConclusionsChildren with CHDs were more likely to have an ID or autism. Future research should elucidate underlying etiology of ID in children with CHDs.

Increased nuchal translucency in children with congenital heart defects and normal karyotype-is there a correlation with mortality?

Our objective was to investigate if an increased nuchal translucency (NT) was associated with higher mortality in chromosomally normal children with congenital heart defects (CHD). In a nationwide cohort using population-based registers, we identified 5,633 liveborn children in Denmark with a pre- or postnatal diagnosis of CHD from 2008 to 2018 (incidence of CHD 0.7%). Children with chromosomal abnormalities and non-singletons were excluded. The final cohort compromised 4,469 children. An increased NT was defined as NT > 95th-centile. Children with a NT > 95th-centile vs. NT < 95th-centile including subgroups of simple- and complex CHD were compared. Mortality was defined as death from natural causes, and mortalities were compared among groups. Survival analysis with Cox-regression was used to compare rates of mortality. Analyses were adjusted for mediators (possibly explanatory factors between increased NT and higher mortality): preeclampsia, preterm birth and small for gestational age. And for confounding effects of extracardiac anomalies and cardiac intervention, due to their close association to both the exposure and the outcome (i.e., confounders). Of the 4,469 children with CHD, 754 (17%) had complex CHD and 3,715 (83%) simple CHD. In the combined group of CHDs the mortality rate was not increased when comparing those with a NT > 95th-centile to those with a NT < 95th-centile [Hazard ratio (HR) 1.6, 95%CI 0.8;3.4, p = 0.2]. In simple CHD there was a significantly higher mortality rate with a HR of 3.2 (95%CI: 1.1;9.2, p = 0.03) when having a NT > 95th centile. Complex CHD had no differences in mortality rate between a NT > 95th-centile and NT < 95th-centile (HR 1.1, 95%CI: 0.4;3.2, p = 0.8). All analysis adjusted for severity of CHD, cardiac operation and extracardiac anomalies. Due to limited numbers the association to mortality for a NT > 99th centile (>3.5 mm) could not be assessed. Adjustment for mediating (preeclampsia, preterm birth, small for gestational age) and confounding variables (extracardiac anomalies, cardiac intervention) did not alter the associations significantly, except for extracardiac anomalies in simple CHD. An increased NT > 95th-centile is correlated with higher mortality in children with simple CHD, but the underlying cause is unknown and undetected abnormal genetics might explain the correlation rather than the increased NT itself, hence further research is warranted.

Maternal age and the prevalence of congenital heart defects in Europe, 1995-2015: A register-based study.

Evidence on the direction and strength of association between maternal age and the prevalence of congenital heart defects (CHD) in different age group categories is conflicting. Some studies have illustrated different trends with an increase in prevalence in younger and older age groups while other studies have reported a linear relationship. Given the increase in maternal age over recent years, it is important to study the CHD prevalence by maternal age. To examine the association between maternal age and the prevalence of CHD in Europe between 1995 and 2015 using population-based data from 24 registries belonging to the European Surveillance of Congenital Anomalies (EUROCAT) network. Associations over time of all nonsyndromic CHD according to maternal age category and for three CHD severity groupings (severity group I: very severe; severity group II: severe; severity group III: less severe) were examined using Bayesian multilevel Poisson regression modeling. Further subgroup analyses were undertaken within four maternal age-bands: ≤24, 25-29, 30-34 and 35-44 years. Descriptive summaries are also presented. There were 51,608 nonsyndromic CHD cases in Europe over the 20-year study period. Total prevalence for all CHD combined was increased for younger mothers (≤24 years) and for mothers 35-44 years of age when compared with mothers aged 25-29 years (reference group) (IRR: 1.05, 95% CI: 1.02, 1.07). The total prevalence was increased for severity group I (very severe) only for younger mothers compared to those aged 25-29 years (IRR: 1.14, 95% CI: 1.04, 1.23). We found an increased prevalence of the following CHD subtypes: double outlet right ventricle (IRR:1.33, 95% CI: 1.09, 1.60), hypoplastic left heart syndrome (IRR: 1.18, 95% CI: 1.05, 1.32), hypoplastic right heart syndrome (IRR: 1.41, 95% CI: 1.05, 1.84), atrioventricular septal defect (IRR: 1.15, 95% CI: 1.01, 1.32), coarctation of aorta (IRR: 1.15, 95% CI: 1.03, 1.28) and atrial septal defect (IRR: 1.08, 95% CI: 1.02, 1.13). For older mothers (35-44 years) compared to the reference category, we observed an increased risk in the prevalence for severity group II (IRR: 1.09, 95% CI: 1.03, 1.14), severity group III (IRR: 1.05, 95% CI: 1.01, 1.08) and an increased prevalence of the CHD subtypes: Pulmonary valve stenosis (IRR: 1.22, 95% CI: 1.09, 1.34), ASD (IRR: 1.07, 95% CI: 1.02, 1.13), CoA (IRR: 1.18, 95% CI: 1.06, 1.32) and Tetralogy of Fallot (IRR: 1.14, 95% CI: 1.01, 1.28). Finally, for all age categories compared to the reference category, different associations of ASD and an increased prevalence of CoA was also observed. Based on data for cases of CHD from 24 European population-based registries, evidence of a positive association between maternal age and the total prevalence of CHD for younger (≤24 years old) and older (35-44 years old) mothers was observed. The results suggest that young maternal age (≤24 years old) is a factor associated with severe CHD phenotypes while a positive association between advanced maternal age (35-44 years old) and mild CHD phenotypes was observed.

Congenital heart defects in children with Gastro-intestinal malformations

Background. Congenital malformations of the gastrointestinal (GI) tract are common birth defects detected in the neonatal period and usually present with signs of GI obstruction which at times can be life threatening. Anorectal malformations are among the more frequent congenital anomalies. The co-occurrence of congenital heart defect (CHD) along with GI malformation can significantly affect the natural history of either defect. Purpose - to study the prevalence of GI malformations in children with CHD and study the risk factors. Materials and methods. A total 100 patients of GI malformations were enrolled out of which 66 (66%) were males and 34 (34%) were females. All patients with any GI malformations (anorectal malformation, tracheoesophageal fistulae, anterior abdominal wall defects) presenting to Neonatal Intensive Care Unit (NICU), Paediatric Cardiac unit, Pediatric and Pediatric surgery outpatient department (OPD) as well as In-patient department (IPD) between October 2019 to October 2021 were included in study. A detailed history and examination was done followed by echocardiography and the prevalence of CHD among GI malformation was observed and risk factors were studied. Results. Most common GI anomaly was anorectal malformation (71%) followed by tracheoesophageal fistula (17%), CHD was seen in 14 children. Most common heart defect was ventricular septal defect (VSD) (43%) followed by patent ductus arteriosus (PDA) (36%) and atrial septal defect (ASD) (14%). Among cases with anorectal malformation, CHDs was seen in 10% and the most common defect was VSD (43%). Forty one percent of cases with tracheoesophageal fistula had CHDs with PDA (57%) being the most common underlying defect. Functional heart defects were present in 28 children of GI malformations. Conclusions. The coexistence and severity of CHD in patients with GI malformation can have prognostic implications. Thus, early cardiac evaluation should be performed in every case of GI malformation, preferably with echocardiography. This is likely to help in the risk stratification as well as management of such children. The study was performed in accordance with the principles of the Declaration of Helsinki. Study is approved by Ethical Committee of the Institution. Informed consent of patients was obtained for the study. No conflict of interests was declared by the authors.

Functional characterization of GATA6 genetic variants associated with mild congenital heart defects

Damaging GATA6 variants can cause moderate congenital heart defects. With the application of next-generation sequencing approaches, various novel GATA6 variants with unknown significance have been identified from a broad spectrum of congenital heart defects. However, functional assessment for distinct GATA6 variants from different severity of congenital heart defects, especially from mild defects, is lacking, which hinders our understanding of the genotype-phenotype correlations and underlying mechanisms.Here, we assessed the functional consequences of nine rare GATA6 variants, which had been implicated as the most significant variants associated with mild congenital heart defects using the largest case and control cohort. We examined the effects of these variants on subcellular localization, transcriptional activity, and protein interactions in 293T or AC16 cells and their ability to rescue heart malformation in gata6 zebrafish mutant.We found that two of these nine variants, Q120X and S424I, significantly decreased transcriptional activity. Additionally, Q120X altered subcellular localization. Consistent with the in vitro results, the in vivo results showed that Q120X and S424I lost their potency to rescue ventricular malformation in gata6 −/− embryos.The results indicated that Q120X and S424I are pathogenic in mild congenital heart defects. Further, the inconsistence of severely impaired Q120X function and mild CHDs phenotype suggested the complexity of the genotype-phenotype correlation between the GATA6 variant and heart phenotype, which may help to inform prenatal genetic counseling and pre-implantation genotyping for congenital heart defects.

Prevalence of congenital heart defects in Europe, 2008-2015: A registry-based study.

The total prevalence of congenital heart defects (CHDs) varies by populations and over time. Studies that examine trends in the prevalence of CHD in different regions may shed light on our understanding of the occurrence of CHD and the impact of different risk factors. To examine trends in total and live birth prevalence of nonsyndromic CHD in Europe between the years 2008 and 2015 and to investigate if the decreasing trend reported by previous studies is continuing. Cases of CHD delivered between January 1, 2008 and December 31, 2015 notified to 25 population-based EUROCAT (European Surveillance of Congenital Anomalies) registries in 14 countries, formed the population-based case-series. Prevalence (total/live) rates and 95% confidence intervals were calculated as the number of cases per 10,000 births (live and stillbirths). Time trends in prevalence of all nonsyndromic CHDs and for three CHD severity groups (very severe, severe, and less severe) were plotted using a Poisson regression multilevel approach. The total prevalence of nonsyndromic CHD was 57.1 per 10,000 births (live births and stillbirths) for the 8-year period and remained stable across the three CHD severity groups while the live birth prevalence was 60.2 per 10,000 births. There was considerable variation in the reported total CHD prevalence and the direction of trends by registry. A decreasing prevalence of CHD was observed for the Norway and England/Wales registries, whereas the CHD prevalence increased for registries in Italy and Croatia. The total prevalence of CHD in Europe between the years 2008 and 2015 remained stable for all CHD and across the three CHD severity groups. The decreasing trend reported by previous studies has not continued. However, we found significant differences in the total and live birth prevalence by registry.

An Exploratory Analysis of Maternal Health Variables Increasing the Severity of Congenital Heart Disease in Infants.

Congenital heart defects (CHD) are the most prevalent birth anomaly and leading cause of infant morbidity and mortality worldwide. Heart defects are often attributed to chromosomal abnormality or environmental factors, but most causes remain unknown. The purpose of this analysis was to explore maternal health variables and the relationships to birth outcomes in infants with CHD. Secondary analysis of data from the Wisconsin Pediatric Cardiac Registry. Maternal history of CHDs (odds ratio [OR] = 2.38; 95% confidence interval [CI], 1.42-3.98) and serious health conditions (OR = 1.537; 95%: CI, 1.08-2.17) increase infant risk and CHD severity. Maternal history of hypertension, serious health conditions, CHD, obesity, and income were predictors of birth weight (R² = 0.049, P < .05). Maternal history of hypertension, influenza, serious health conditions, and housing were predictors of gestational age (R2 = 0.045, P < .05). Birth weight (BW) and gestational age (GA) did not correlate to the severity of CHD in this study (simple vs complex, BW = -0.014, GA = 0.011, r). Maternal well-being influences the health of infants born with CHD. Positive maternal health contributes to near-normal birth weight and gestational age. Nurses must discuss optimal reproductive life planning strategies for decreasing risk of CHD and other infant disorders.

Health Care Usage Among Adolescents With Congenital Heart Defects at 5 Sites in the United States, 2011 to 2013.

Background We sought to characterize health care usage for adolescents with congenital heart defects (CHDs) using population-based multisite surveillance data. Methods and Results Adolescents aged 11 to 18 years with ≥1 CHD-related diagnosis code and residing in 5 US sites were identified in clinical and administrative data sources for the years 2011 to 2013. Sites linked data on all inpatient, emergency department (ED), and outpatient visits. Multivariable log-binomial regression models including age, sex, unweighted Charlson comorbidity index, CHD severity, cardiology visits, and insurance status, were used to identify associations with inpatient, ED, and outpatient visits. Of 9626 eligible adolescents, 26.4% (n=2543) had severe CHDs and 21.4% had Charlson comorbidity index >0. At least 1 inpatient, ED, or outpatient visit was reported for 21%, 25%, and 96% of cases, respectively. Cardiology visits, cardiac imaging, cardiac procedures, and vascular procedures were reported for 38%, 73%, 10%, and 5% of cases, respectively. Inpatient, ED, and outpatient visits were consistently higher for adolescents with severe CHDs compared with nonsevere CHDs. Adolescents with severe and nonsevere CHDs had higher health care usage compared with the 2011 to 2013 general adolescent US population. Adolescents with severe CHDs versus nonsevere CHDs were twice as likely to have at least 1 inpatient visit when Charlson comorbidity index was low (Charlson comorbidity index =0). Adolescents with CHDs and public insurance, compared with private insurance, were more likely to have inpatient (adjusted prevalence ratio, 1.5 [95% CI, 1.3-1.7]) and ED (adjusted prevalence ratio, 1.6 [95% CI, 1.4-1.7]) visits. Conclusions High resource usage by adolescents with CHDs indicates a substantial burden of disease, especially with public insurance, severe CHDs, and more comorbidities.

Abstract 9551: Presence of Disabilities is Associated With Reproductive Health Counseling, Concerns, and Experiences and Marital History Among Women With Congenital Heart Defects, 2016-2019

Most females with congenital heart defects (CHD) will reach reproductive age. Our objective was to examine whether presence of disabilities is associated with reproductive health counseling, concerns, and experiences among women with CHD. Methods: We used 2016-2019 population-based data from the Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG (CH STRONG) among women ages 19 to 38 years with CHD born in Arkansas, Arizona, and Atlanta, Georgia. We examined contraceptive and pregnancy counseling, pregnancy concerns and experiences, and marital history by disability status. Disability was based on six validated questions on vision, hearing, mobility, cognition, self-care, and independent living. Multivariable Poisson regression was used to examine adjusted prevalence ratios (aPR) between reporting ≥ 1 disability and each outcome, adjusted for CHD severity, age, race/ethnicity, place of birth, and insurance type. Results: Of 783 survey respondents with complete data (88% of all respondents), 41.9% were 25-30 years of age, 66.8% were non-Hispanic White, and 41.5% reported ≥1 disability. Women with CHD and disabilities were more likely than women without disabilities to receive clinician counseling on safe contraceptive methods (aPR=1.3) and on avoiding pregnancy because of their CHD (aPR=2.3). They were also more likely to report concern about their ability to have children (aPR=1.2) and having delayed or avoided pregnancy because of their CHD (aPR=2.2). They were less likely to have ever been pregnant (aPR=0.8) or married (aPR=0.7). Associations held across specific disability types and after excluding 71 women with known chromosomal anomalies. Conclusions: Among women with CHD, those with disabilities may be more likely to receive clinician advice to avoid pregnancy and less likely to ever have been pregnant. Evidence-based information may improve services and help women with CHD and disabilities meet their reproductive health goals.