Abstract 11803: Factors Associated With Delayed Diagnosis of Critical Congenital Heart Defects in Texas

Purpose: Critical congenital heart defects (CCHD) require surgical and/or transcatheter intervention in infancy. They may or may not have ductal dependent circulation. Timely diagnosis before ductal closure is important to reduce morbidity and mortality. Our goal was to identify factors associated with delayed diagnosis of CCHD. Methods: This is a retrospective, population-based, observational study of liveborn infants in Texas born from 2000 - 2009 identified using the Texas Birth Defects Registry (TBDR). Inclusion required a definitive diagnosis of one of 13 selected CCHDs identified by diagnostic code and information on one of three “diagnostic” procedures: prenatal or postnatal echocardiogram or autopsy. Cases with aortic or pulmonary stenosis, coarctation of aorta, tricuspid stenosis or Ebsteins anomaly were included only if they underwent a cardiac surgical or catheterization procedure within 6 weeks of life. Stillborn infants or that died within three days of life (DOL) without evidence of an echocardiogram procedure were excluded. Date of diagnosis was defined as date of first echocardiogram. “Delayed diagnosis” was defined as any date of diagnosis after DOL3. Eligible infants with autopsy as the only “diagnostic” procedure were also classified as “delayed diagnosis”. Logistic regression models were created to identify factors that influence diagnosis delay. Results: A total of 5895 CCHD cases were identified. Diagnosis was delayed in 25% of cases. The CCHDs with highest rates of delayed diagnosis were critical coarctation (34%) and TAPVR (32%). In multivariate analysis, delayed diagnosis was more likely to be associated with single CCHD [adjusted odds ratio (aOR) 1.9; 95% CI 1.5-2.4], low maternal education [aOR1.7; 95% CI 1.2-2.3], prematurity <32wks [aOR 1.6; 95% CI 1.21-2.26], and rural maternal residence [aOR 1.5; 95% CI 1.22-1.94]. Presence of noncardiac defects decreased delayed diagnosis only for a few CCHD phenotypes. Conclusions: A quarter of all births with CCHD have a delayed diagnosis in Texas. Maternal education and residence are associated with the delay. Future studies will have to investigate each CCHD phenotype for specific risk factors.

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Indigenous Ethnicity and Low Maternal Education Are Associated with Delayed Diagnosis and Mortality in Infants with Congenital Heart Defects in Panama

PLoS ONE ◽

10.1371/journal.pone.0163168 ◽

2016 ◽

Vol 11 (9) ◽

pp. e0163168 ◽

Cited By ~ 1

Author(s):

Franz Castro ◽

Julio Zúñiga ◽

Gladys Higuera ◽

María Carrión Donderis ◽

Beatriz Gómez ◽

...

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Maternal Education ◽

Heart Defects ◽

Delayed Diagnosis

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Delayed Diagnosis of Critical Congenital Heart Defects: Trends and Associated Factors

PEDIATRICS ◽

10.1542/peds.2013-3949d ◽

2014 ◽

Vol 134 (2) ◽

pp. X20-X20

Keyword(s):

Congenital Heart Defects ◽

Associated Factors ◽

Congenital Heart ◽

Heart Defects ◽

Delayed Diagnosis

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Academic Achievement Among Children with Congenital Heart Defects in Arkansas

International Journal for Population Data Science ◽

10.23889/ijpds.v5i5.1635 ◽

2020 ◽

Vol 5 (5) ◽

Author(s):

Suman Maity ◽

Nahed El-hassan ◽

Anthony Goudie ◽

Jeffrey R Kaiser ◽

Wendy N Nembhard

Keyword(s):

Birth Weight ◽

Congenital Heart Defects ◽

Gestational Age ◽

Congenital Heart ◽

Maternal Education ◽

Heart Defects ◽

Birth Certificate ◽

Educational Performance ◽

Negatively Associated ◽

Race Ethnicity

Children with congenital heart defects (CHD) have impaired cognitive development. The objective was to determine if children with CHDs differed in academic performance during elementary and middle school years from children without CHDs. Data from the state birth defects registry, Arkansas Reproductive Health Monitoring System (ARHMS), birth certificate records, and achievement test-scores (grades 3-8) from the Arkansas Department of Education were linked using unique identifiers for children born between 2000-2011 in Arkansas. Cases were identified using 6-digit British Paediatric Association codes and matched controls were assigned from birth certificate data. Proficiency (yes/no) on achievement tests was determined using standard thresholds per grade. Data were stratified based on sex, gestational age, and birth weight. Odds ratios (OR) and 95% confidence intervals (CI) were calculated from multivariate logistic regression adjusting for maternal education level and age, race/ethnicity, and infant sex. A total of 3,730 children with CHDs and 7,385 children without CHDs were evaluated. Children with CHD were less likely to be proficient in early elementary school grades for mathematics (3rd: OR=0.72, 95% CI: 0.59, 0.87; 4th: OR=0.77, 95% CI: 0.62, 0.95) and literacy (3rd: OR=0.75, 95% CI: 0.63, 0.89; 4th: OR=0.72, 95% CI: 0.58, 0.90). The trend of being less proficient associated with CHD remained mostly consistent with sex, gestational age, and birth weight. In multivariate analysis, CHD was negatively associated with being proficient in mathematics and literacy. Maternal education (1-3 years beyond high school) was positively associated with test proficiency. Additionally, non-Hispanic (NH) black children had lower odds of being proficient compared to NH white children. Educational performance was negatively associated with CHD in early elementary grades; there was no difference in later grades. However, larger sample sizes in later grades are necessary for reliable estimates. Maternal education and race/ethnicity were significant factors associated with childhood educational performance.

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Maternal socioeconomic and lifestyle factors during pregnancy and the risk of congenital heart defects

Medicina ◽

10.3390/medicina45110116 ◽

2009 ◽

Vol 45 (11) ◽

pp. 904 ◽

Cited By ~ 13

Author(s):

Renata Kučienė ◽

Virginija Dulskienė

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Maternal Education ◽

Heart Defects ◽

Multivariate Regression Analysis ◽

Lifestyle Factors ◽

Epidemiological Methods ◽

Smoking During Pregnancy ◽

Adjusted Risk ◽

Study Results

The objective of study was to estimate the importance of maternal socioeconomic and lifestyle factors during pregnancy in the risk of congenital heart defects in Kaunas infant population in 1999–2005. Material and methods. An epidemiological case-control study was conducted. The study comprised 187 newborns with congenital heart defects (cases) and 643 randomly selected newborns without any defects (controls), born in Kaunas city during 1999–2005. Modern epidemiological methods were used for data analysis. A multivariate logistic regression was used to determine adjusted risk factors of congenital heart defects. Results. The logistic multivariate regression analysis showed that low and moderate maternal education significantly increased the risk of congenital heart defects (primary or basic [OR=3.43; 95% CI, 1.54–7.64] and secondary [OR=1.56; 95% CI, 1.00–2.45] vs advanced vocational or higher education). The housewives and workers had a higher risk of delivering a newborn with congenital heart defects than the office workers (OR=2.34; 95% CI, 1.34–4.10 and OR=1.28; 95% CI, 0.79–2.07, respectively). Maternal smoking during pregnancy tended to increase the risk of congenital heart defects by 48% (OR=1.48; 95% CI, 0.82–2.67). Conclusions. According to our study results, unfavorable maternal socioeconomic factors and smoking during pregnancy increased the risk of congenital heart defects.

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Maternal psychological distress, education, household income, and congenital heart defects: a prospective cohort study from the Japan environment and children’s study

BMC Pregnancy and Childbirth ◽

10.1186/s12884-021-04001-2 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Yasuaki Saijo ◽

Eiji Yoshioka ◽

Yukihiro Sato ◽

Hiroshi Azuma ◽

Yusuke Tanahashi ◽

...

Keyword(s):

Socioeconomic Status ◽

Cohort Study ◽

Psychological Distress ◽

Congenital Heart Defects ◽

Household Income ◽

Prospective Cohort ◽

Congenital Heart ◽

Maternal Education ◽

Heart Defects ◽

Maternal Psychological Distress

Abstract Background The influence of maternal psychological distress on infant congenital heart defects (CHDs) has not been thoroughly investigated. Furthermore, there have been no reports on the combined effect of maternal psychological distress and socioeconomic status on infant CHDs. This study aimed to examine whether maternal psychological distress, socioeconomic status, and their combinations were associated with CHD. Methods We conducted a prospective cohort study using data from the Japan Environment and Children’s Study, which recruited pregnant women between 2011 and 2014. Maternal psychological distress was evaluated using the Kessler Psychological Distress Scale in the first trimester, while maternal education and household income were evaluated in the second and third trimesters. The outcome of infant CHD was determined using the medical records at 1 month of age and/or at birth. Crude- and confounder-adjusted logistic regression analyses were performed to evaluate the association between maternal psychological distress and education and household income on infant CHD. Results A total of 93,643 pairs of mothers and infants were analyzed, with 1.1% of infants having CHDs. Maternal psychological distress had a significantly higher odds ratio in the crude analysis but not in the adjusted analysis, while maternal education and household income were statistically insignificant. In the analysis of the combination variable of lowest education and psychological distress, the P for trend was statistically significant in the crude and multivariate model excluding anti-depressant medication, but the significance disappeared in the full model (P = 0.050). Conclusions The combination of maternal psychological distress and lower education may be a possible indicator of infant CHD.

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Maternal Obesity and the Risk of Congenital Heart Defects: the Mediation Effect of Pregestational Diabetes

10.21203/rs.3.rs-430110/v1 ◽

2021 ◽

Author(s):

Xiao-Xia Wu ◽

Ru-Xiu Ge ◽

Le Huang ◽

Fu-Ying Tian ◽

Yi-Xuan Chen ◽

...

Keyword(s):

Risk Factor ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Maternal Education ◽

Maternal Obesity ◽

Heart Defects ◽

Normal Weight ◽

Mediation Effect ◽

Pregestational Diabetes ◽

Increased Risk

Abstract Background Congenital heart defects (CHDs) are the most common birth defects worldwide. Maternal obesity has been proposed as a risk factor for CHDs, but the results are controversial and inconclusive. Pregestational diabetes (PGDM) is well known as a risk factor for CHDs and is closely related to obesity. However, the effect of PGDM on the association between maternal obesity and CHDs has not been investigated.Objectives We aimed to explore the association between maternal obesity and CHDs and to further evaluate the mediation effect of PGDM on this association.Methods We involved 53708 mother-infant pairs with deliveries between 2017 and 2019 from the Birth Cohort in Shenzhen (BiCoS). Mothers were categorized into four groups: the underweight group (BMI < 18.5), normal weight group (18.5 ≤ BMI < 24), overweight group (24 ≤ BMI < 28) and obesity group (BMI ≥ 28). To evaluate the association between BMI and CHDs, we fit multivariable logistic regression models, adjusting for maternal age, maternal education level, mode of conception, parity, GDM and offspring sex. Mediation analysis was used to confirm the mediation effect of PGDM on the association between maternal obesity and CHDs.Results The proportion of obese individuals in the BiCoS was 2.11%. Overall, 372 (0.69%) infants were diagnosed with CHDs. The prevalence of CHDs in underweight, normal weight, overweight and obese individuals was 0.64%, 0.68%, 0.72% and 1.24%, respectively. Maternal obesity was associated with an increased risk of CHDs (OR=1.97, 95% CI 1.14–3.41). The offspring of women with PGDM were 6.88 times (95% CI 4.11–11.53) more likely to have CHDs than the offspring of mothers without PGDM. The mediation effect of PGDM on the association between maternal obesity and CHDs was significant (OR=1.18, 95% CI 1.06–1.32). The estimated mediation proportion was 24.83%.Conclusion Our findings suggested that maternal obesity was associated with CHDs and that PGDM partially mediated the association between maternal obesity and CHDs.

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Comparison of Right Ventricular Stroke Work for Tetralogy Patient and Normal Subject

ASME 2008 Summer Bioengineering Conference, Parts A and B ◽

10.1115/sbc2008-193145 ◽

2008 ◽

Author(s):

Ashish Das ◽

William Gottliebson ◽

Rupak K. Banerjee

Keyword(s):

Right Ventricular ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Pulmonary Valve ◽

Heart Defects ◽

Pulmonary Stenosis ◽

The United States ◽

Stroke Work ◽

Loading Conditions ◽

Clinical Issue

Tetralogy of Fallot (TOF), also called blue-baby syndrome is one of the most common congenital heart defects in children after infancy and is estimated to account for 10% of all congenital heart defects [3]. TOF consists of four interrelated lesions: i) ventricular septal defect ii) Pulmonary stenosis iii) Right ventricular (RV) hypertrophy and (iv) Overriding Aorta [3]. TOF has been successfully repaired for several decades (Fig. 1). There are now an estimated 100,000 adult “repaired TOF” patients in the United States alone. As a result, long-term sequelae of the disease and repair have become important clinical issue. Specifically, residual pulmonary valve insufficiency (PI) is one such accepted and often unavoidable sequela. PI, when severe, abnormally alters the RV loading conditions, thereby triggering RV hypertrophy and dilatation. In turn, RV dilatation can evolve into irreversible RV myocardial contractile dysfunction, and has been related to sudden death in many “repaired TOF” patients. To normalize RV loading conditions, pulmonary valve replacement is often necessary and should be performed prior to the onset of irreversible RV myocardial damage.

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Procedural factors associated with early postoperative arrhythmias after repair of congenital heart defects

Journal of Thoracic and Cardiovascular Surgery ◽

10.1067/mtc.2002.119701 ◽

2002 ◽

Vol 123 (2) ◽

pp. 258-262 ◽

Cited By ~ 40

Author(s):

Jean-Pierre Pfammatter ◽

Bendicht Wagner ◽

Pascal Berdat ◽

Denis C.G. Bachmann ◽

Mladen Pavlovic ◽

...

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Factors Associated

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Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital Anomalies

Case Reports in Genetics ◽

10.1155/2017/3941483 ◽

2017 ◽

Vol 2017 ◽

pp. 1-5 ◽

Cited By ~ 1

Author(s):

Samuel Bloor ◽

Dinesh Giri ◽

Mohammed Didi ◽

Senthil Senniappan

Keyword(s):

Short Stature ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Gh Deficiency ◽

Heart Defects ◽

Pulmonary Stenosis ◽

Sensorineural Deafness ◽

Splice Donor Site ◽

Heterozygous Mutation ◽

Facial Dysmorphism

B3GAT3, encoding β-1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Homozygous B3GAT3 mutations have been associated with short stature, skeletal deformities, and congenital heart defects. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic hypoglycaemia, facial dysmorphism, and congenital heart defects. A female infant, born at 34 weeks’ gestation to nonconsanguineous Caucasian parents with a birth weight of 1.9 kg, was noted to have cloacal abnormality, ventricular septal defect, pulmonary stenosis, and congenital sensorineural deafness. At 4 years of age, she was diagnosed with GH deficiency due to her short stature (height < 2.5 SD). MRI of the pituitary gland revealed a small anterior pituitary. She has multiple dysmorphic features: anteverted nares, small upturned nose, hypertelorism, slight frontal bossing, short proximal bones, hypermobile joints, and downslanting palpebral fissures. Whole exome sequencing (WES) was performed on the genomic DNA from the patient and biological mother. A heterozygous mutation in B3GAT3 (c.888+262T>G) in the invariant “GT” splice donor site was identified. This variant is considered to be pathogenic as it decreases the splicing efficiency in the mRNA.

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