Association Of Congenital Heart Defects Research Articles

Association between Genitourinary and Congenital Heart Defects: A 52-year Case-Control Study of the Latin American Collaborative Study of Congenital Malformations (ECLAMC)

Abstract Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies. Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p < 0.05 were considered statistically significant. Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p < 0.000). The OR was of 3.61 (range: 1.86–7.00) for cloacal exstrophy, of 4.01 (range: 3.14–5.12) for imperforate anus, of 5.52 (range: 3.92–7.78) for horseshoe kidney, and of 13.7 (range: 6.65–28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract. Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and horseshoe kidney. Patients with urological abnormalities and Down syndrome have the highest likelihood.

The association of congenital heart defects with prenatal exposure to air pollutants: An umbrella review

Background and aim: For idiopathic congenital heart defects (CHD), air pollution during fetal development is a potential risk factor. However, findings of previous epidemiological studies and consequently of systematic reviews, have been mixed. We aimed to synthesize and evaluate the extant evidence on associations between gestational exposure to air pollutants and CHD subtypes, using a systematic review of reviews approach ("umbrella review”). Methods: We systematically searched PubMed, Embase, and Epistemonikos for published and unpublished systematic reviews. The search was supplemented by the use of internet search engines and hand-searching of reference lists. The Risk of Bias in Systematic Reviews ("ROBIS”) tool was used to evaluate included systematic reviews. Results: We identified ten systematic reviews, including eight meta-analyses. Moderately strong evidence for an increased risk of coarctation of the aorta following prenatal exposure to NO2 was provided by five reviews, which reported statistically homogeneous pooled odds ratios of 1.10 to 1.20 (95% confidence interval range: 0.99 to 1.41). Also, there was limited evidence for positive associations between SO2 and coarctation of the aorta, PM10 and atrial septal defects, NO2 and pulmonary artery and valve anomalies, and for both, PM2.5 and NO2 and Tetralogy of Fallot. Findings for other pollutant-CHD associations were inconsistent. Based on the ROBIS tool, a high or unclear risk of bias rating was assigned to eight out of ten reviews. Conclusion: Beyond the increased risk of coarctation of the aorta following exposure to NO2, a clear pollutant-outcome pattern was not identified. These incoherent findings may partly be explained by differences in methods used across the reviews (e.g., inclusion criteria) as well as between individual studies (e.g., exposure and outcome assessment methods). Further establishment of and adherence to systematic review methods for environmental exposures and children’s health may improve the validity and consistency of future systematic review findings.

Unveiling Complexity and Multipotentiality of Early Heart Fields.

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Residential agricultural pesticide exposures and risk of selected congenital heart defects among offspring in the San Joaquin Valley of California

BackgroundPesticide exposures are ubiquitous and of substantial public concern. We examined the potential association of congenital heart defects with residential proximity to commercial agricultural pesticide applications in the San Joaquin Valley, California. MethodsStudy subjects included 569 heart defect cases and 785 non-malformed controls born from 1997 to 2006 whose mothers participated in a population-based case-control study. Associations with any versus no exposure to physicochemical groups of pesticides and specific chemicals were assessed using logistic regression adjusted for relevant covariates, for 8 heart defect phenotypes that included ≥50 cases and pesticide exposures with ≥5 exposed cases and controls, which resulted in 235 comparisons. Results38% of cases and controls were classified as exposed to pesticides within a 500m radius of mother׳s address during a 3-month periconceptional window. Adjusted odds ratios (AORs) with 95% CIs excluding 1.0 were observed for 18 comparisons; all were >1 and ranged from 1.9 to 7.1. They included tetralogy of Fallot (n=101 cases) and neonicotinoids; hypoplastic left heart syndrome (n=59) and strobins; coarctation of the aorta (n=74) and pyridazinones; pulmonary valve stenosis (n=53) and bipyridyliums and organophosphates; ventricular septal defects (n=93) and avermectins and pyrethroids; and atrial septal defects (n=132) and dichlorphenoxy acid or esters, organophosphates, organotins, and pyrethroids. No AORs met both of these criteria for d-transposition of the great arteries (n=58) or heterotaxia (n=53). ConclusionsMost pesticides were not associated with increased risk of specific heart defect phenotypes. For the few that were associated, results should be interpreted with caution until replicated in other study populations.

Genetic sonography: the historical and clinical role of fetal echocardiography

The association of congenital heart defects with trisomy 21 was reported over 50 years ago and heart defects remain one of the most common and lethal abnormalities present postnatally in individuals affected by Down syndrome1–4. The purpose of this Editorial is to review the use of second-trimester fetal echocardiography as an adjunct to the genetic sonogram from a clinical perspective, based on my experience over the past 20 years5–13. The following topics are discussed as they relate to trisomy 21: (1) the incorporation of ultrasound evaluation of the fetal heart as part of the genetic sonogram and comparison of it with other screening modalities from a historical perspective; (2) the postnatal incidence of congenital heart defects; (3) the prenatal incidence of structural and functional heart abnormalities; (4) the relative risk for various cardiac findings; and (5) the suggested use of fetal echocardiography as part of the genetic sonogram given current screening technologies.

Prenatal diagnosis of heart defects and associated chromosomal aberrations

According to epidemiological studies on newborns, the association of congenital heart defects with chromosomal anomalies varies between 4 and 12%. Prenatally this rate is probably higher, due to antenatal death occurring in fetuses with chromosomal aberrations. The aim of the study was therefore to determine the rate and the distribution of chromosomal aberrations in prenatally detected heart defects. Within a period of 7 years fetal echocardiography was performed on 2716 fetuses at high risk for CHD. The analysis of the fetal heart was achieved by the visualization of different planes. Once a heart defect was detected, karyotyping was performed after amniocentesis, cordocentesis or chorion villous sampling, or in a few cases postnatally from cord blood. Prenatal ultrasound findings were confirmed postnatally by ultrasound examination or, in case of abortion, stillbirth or neonatal death, by autopsy. A total of 203 fetal heart malformations were detected and 46 of them (22%) had associated chromosomal anomalies. 60% of all cases and 80% of the study group had extracardiac anomalies. Only eight out of the 46 pregnant women (17.5%) were older than 35 years. Eight out of the 15 fetuses with trisomy 18 had a ventricular septal defect, 9/13 fetuses with trisomy 21 had an atrioventricular septal defect and all 5 fetuses with monosomy X had a left heart outflow obstruction. No typical cardiac defects were found in the remaining 13 fetuses (5 trisomy 13, 2 triploidies, 6 miscellaneous). Of the 13 live births (23 terminations of pregnancy and 10 intrauterine deaths) 6 children survived (46% and overall survival rate 13%). The following rates of associations with aneuploidies were found: atrioventricular septal defect 55%, ventricular septal defect and aortic coaction both 43%, tetralogy of Fallot and double outlet right ventricle both 36%. In comparison, fetuses with isomerism, transposition of the great arteries and pulmonary atresia or stenosis had normal chromosomes. We conclude that the rate of association of heart defects and chromosomal abnormalities is higher prenatally than in the neonatal period and is approximately 22%. After detecting a fetal cardiac malformation, karyotyping is mandatory for the further management of pregnancy. The likelihood of detection of an aneuploidy increases when some typical heart defects are detected or when an association with extracardiac anomalies is found.

Association of neural tube defects with omphalocele in chromosomally normal fetuses

Omphalocele is frequently associated with other congenital malformations or a chromosome abnormality. Previously published series of omphalocele have emphasized the association of congenital heart defects or chromosomal abnormalities. We present five cases of omphalocele with concurrent neural tube defect from among the 15 cases of omphalocele evaluated between 1981 and 1985. Fourteen of 15 were detected prenatally. A sixth case is presented in which both a neural tube defect and an omphalocele were suspected on a prenatal ultrasound, but only the latter was found on autopsy. We recommend that a systematic evaluation be performed on every fetus with an omphalocele to include amniotic fluid alpha fetoprotein, acetylcholinesterase levels, chromosome study, and careful ultrasonography looking for evidence of other abnormalities, especially neural tube defects, before counseling the parents.

Association of congenital heart defects with season and population density.

Infants born in New England with congenital heart defects were examined for association with time of year or population density. Moderate seasonal peaks in births were noted for complex ventricular septal defect, malposition defects, and transposition of the great arteries. Positive associations with population density were found for pulmonary atresia with ventricular septal defect, ventricular septal defect with secondary anomalies, and tricuspid atresia.