Maternal Micronutrient Levels, Environmental Factors, and Their Association with Congenital Heart Disease and Extracardiac Anomalies in Infants: A Retrospective Analysis

Abstract

Objectives: Congenital heart defects (CHDs) are among the most common congenital anomalies in newborns and frequently coexist with extracardiac malformations. Both genetic and environmental contributors have been implicated in CHD development, yet the influence of maternal micronutrient status and parental lifestyle factors remains insufficiently explored. This study aimed to evaluate maternal serum trace elements and vitamin levels in infants with CHD and/or extracardiac anomalies, and to identify potentially preventable maternal and paternal factors associated with these anomalies. Methodology: A retrospective study was conducted in a tertiary pediatric center in Turkey, including infants aged 0–3 months with CHD or extracardiac anomalies and their mothers. Healthy infants and their mothers served as controls. Maternal serum levels of magnesium, zinc, copper, vitamin A, vitamin E, vitamin B12, folic acid, and homocysteine were measured. Demographic, obstetric, lifestyle, and environmental variables were also recorded. Statistical comparisons were performed using t-tests, Mann–Whitney U tests, and chi-square tests (p<0.05). Results: Of 147 infants, 56 had CHD and 19 (33.9%) had CHD with extracardiac anomalies. Gastrointestinal (47.4%) and CNS anomalies (36.8%) were the most common associated defects. Mothers of CHD infants had significantly lower zinc [p=0.008] and vitamin A levels [p=0.001] and higher homocysteine levels [p=0.008] than controls. Paternal smoking was more frequent in the CHD group [p=0.008], while maternal literacy and adequate antenatal monitoring were significantly lower. No differences were found in maternal magnesium, copper, vitamin B12, folate, or vitamin E levels. Conclusion: Low maternal zinc and vitamin A levels, high homocysteine, and paternal smoking were associated with CHD in infants. As these factors are modifiable, they highlight opportunities for preventive strategies in maternal–child health. Further prospective studies are needed to clarify causality.