Congenital heart defect (CHD) cases have been evaluated together as a group in some previous epidemiological studies. However, different CHD entities have different etiologies, and the underlying causes are unclear in the vast majority of patients. Thus the aim of this study was to analyze the possible association of different maternal diseases with the risk of four types of conotruncal defects (CTD), that is, truncus arteriosus, d-transposition of the great arteries, tetralogy of Fallot, and double-outlet right ventricle based on autopsy or surgical report diagnosis. Acute and chronic diseases with related drug treatments and peri-conceptual folic acid or multivitamin supplementations were compared in mothers of 598 CTD cases, of 902 matched controls, and 38,151 population controls without any defects, and with 20,896 malformed controls with other isolated non-cardiac defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. Mothers who had medically recorded influenza and the common cold with secondary complications in the prenatal maternity logbook during the second and/or third gestational months were associated with a higher risk of CTD (OR with 95% CI: 2.22, 1.19-3.88). The common denominator of these maternal diseases may be high fever, which could be prevented by antifever therapies. On the other hand, high doses of medically recorded folic acid in early pregnancy were able to reduce the birth prevalence of CTD (OR with 95% CI: 0.54, 0.39-0.73), and this reduction was significant in transposition of the great arteries (0.46, 0.29-0.71) as well. In conclusion, high fever related maternal diseases may have a role in the origin of CTD, while high doses of folic acid in early pregnancy were able to reduce of CTD, particularly transposition of great vessels.

Conduction disorders/cardiac dysrhythmias and chronic hypertension of mothers may have a role in the origin of AVCD, while high doses of folic acid in early pregnancy may reduce the risk of the development of AVCD. Birth Defects Research (Part A) 97:217-224, 2013. © 2013 Wiley Periodicals, Inc.

High-fever-related maternal diseases may have a role in the origin of VSD which is preventable with antifever drug therapy, and the high doses of folic acid in early pregnancy reduced the risk of VSD.

The general pattern of birth outcomes and maternal variables were similar in the types of LSOD cases, but the higher rate of preterm birth and low birthweight indicated some association with their adverse fetal development.

The aim of our project was to study possible etiological factors in the origin of congenital heart defects (CHDs) because in the majority of patients the underlying causes are unclear. Cases with different CHD entities as homogeneously as possible were planned for evaluation in the population-based large data set of the Hungarian Case Control Surveillance of Congenital Abnormalities. Dead or surgically corrected 302 live-born cases with different types of left-ventricular outflow tract obstructive defects (LVOT, i.e., valvular aortic stenosis 76, hypoplastic left heart syndrome 76, coarctation of the aorta 113, and other congenital anomalies of aorta 32) were compared with 469 matched controls, 38,151 controls without any defects, and 20,750 malformed controls with other isolated defects. Medically recorded pregnancy complications and chronic diseases were evaluated based on prenatal maternity logbooks, whereas acute diseases, drug treatments, and folic acid/multivitamin supplementation were analyzed both on the basis of retrospective maternal information and medical records. The results of the study showed the role of maternal diabetes in the origin of LVOT in general, while panic disorder was associated with a higher risk of hypoplastic left heart syndrome and ampicillin treatment with a higher risk of coarctation of the aorta (COA). High doses of folic acid had a protective effect regarding the manifestation of LVOT, particularly COA. In conclusion, only a minor portion of causes was shown in our study; thus, further studies are needed to understand better the underlying causal factors in the origin of LVOT.

AbstractThe objective of our project is to reveal the possible etiological factors of different congenital cardiovascular abnormalities. In this study, we evaluated single ventricular septal defect (VSD) after surgical correction or with lethal outcome. The birth outcomes of these cases in the function of maternal socio-demographic features were evaluated. Data are based on 1,659 VSD cases, 2,534 matched controls and 38,151 all controls without any defects, in addition in the mothers of 19,393 malformed controls with other isolated defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. VSD had mild female excess with a higher rate of preterm birth and mainly low birth weight indicating intrauterine growth restriction of affected fetuses, particularly in males and full-term or average weighted cases. The mothers of cases with VSD had lower socioeconomic status and higher rate of smoking and particularly drinking habit. The evaluation of medically recorded pregnancy complications showed an association of gestational diabetes with a higher risk of VSD. In conclusion, the association of small localized size of VDS and obvious fetal growth restriction needs further explanation in these cases, while gestational diabetes, lower socioeconomic status and adverse lifestyle of pregnant women may have a role in the origin of VSD.

Intrauterine growth restriction and shorter gestational age were found in cases with ASD-II, particularly in female children. These factors may have a general developmental process in which there was not closure of the foramen ovale, thus echocardiographic screening of these babies might be of value.

Objective. In general the previous epidemiological studies evaluated cases with congenital heart defects (CHDs) together. However, different CHD-entities have different etiology, but in the vast majority of patients the underlying causes are unclear. The concept of our project is to evaluate the possible etiological factors in the origin of CHD-entities as homogeneous as possible. The aim of this study is to describe the birth outcomes of 4 different types of cases with conotruncal defects (CTDs), i.e. common truncus (truncus arteriosus), transposition of great vessels, tetralogy of Fallot, and double-outlet right ventricle. Results. There was a male excess s in cases with CTD with usual gestational age and preterm birth rate (except in cases with common truncus), but their mean birth weight was smaller and had a high rate of low birthweight. These data indicate intrauterine growth restriction of fetuses affected with CTD with some sex-difference and the birth outcomes al so showed some difference among the 4 types of CTD cases.Conclusions. Fetal CTD had no effect for gestational age at delivery but CTD associated with an obvious risk for fetal development inducing intrauterine growth restriction.