Maternal hyperhomocysteinemia and congenital heart defects: A prospective case control study in Indian population

Very few studies have been conducted in this part of world to identify relation between maternal serum homocysteine levels and congenital heart disease in their offsprings. With this perspective in mind, this study was carried out.

Fifty women were enrolled in this study. Thirty of these had delivered neonates who were diagnosed to have congenital heart diseases. These were treated as cases. Twenty of these women had delivered neonates who did not have any congenital heart diseases and were treated as controls. For estimating the levels of plasma homocysteine, fasting blood samples were taken from the women in both groups.

Out of 30 cases, 14 (46.6%) had a tHcy level more than 15μmol/l and all these women had delivered babies who were found to have congenital heart diseases. Out of controls, only 3 (15%) had a tHcy level more than 15μmol/l. In babies with ventricular septal defects, the mean maternal plasma tHcy level was 13.30μmol/l. In babies with Tetralogy of Fallot, the mean maternal plasma tHcy level was 40.07μmol/l. In babies with Transposition of Great Vessels, the mean maternal plasma tHcy level was 40.93μmol/l. In babies with Tricuspid atresia, the mean maternal plasma tHcy level was 24.89μmol/l.

Increased levels of maternal serum homocysteine are associated with increased risk of occurrence of congenital heart defects in their offsprings, suggesting that maternal hyperhomocysteinemia is an independent risk factor for congenital heart defects.