Background: Congenital heart defects (CHDs) are the most common cardiac disorder affecting neonatal age. There are some evidences that suggest that the occurrence of congenital cardiac lesions may be in relation with folate status of the mothers as well as genetic variants in the genes related to folic acid. Aim of work: Conducting investigations on the relation between the polymorphism of MTHFR C677T gene and congenital cardiac lesions in full-term neonates & taking in consideration any possible protective role for folate supplementations as regard the occurrence of CHDs. Methods: This prospective study included 50 full
term neonates as cases and 50 as controls. History was taken in details from each mother through questionnaires. Echocardiography was done for all these babies. These neonates were also subjected to DNA analysis for MTHFR C677T using polymerase chain reaction restricted fragment length polymorphism (PCR-RFLP). Results: An association was detected between neonatal MTHFR C677T genotype and PDA, VSD and ASD. AIn addition to this, the study showed the folic acid supplements to be protective against CHDs. Conclusion: MTHFR C677T polymorphism is associated with certain subgroups of CHDs.
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