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Perinatología y reproducción humana

On-line version ISSN 2524-1710Print version ISSN 0187-5337


SANCHEZ-URBINA, Rocío et al. Significance of enviromental and genetic factors related to congenital heart diseases: MTHFR enzyme case. Perinatol. Reprod. Hum. [online]. 2006, vol.20, n.1-3, pp.39-47. ISSN 2524-1710.

Congenital heart diseases (CHD) represent the third and sixth cause of death for children of less than a year and three years old respectively in Mexico. There is a very high degree of heterogeneity for CHD, having most of them multifactorial inheritance. CHD and neural tube defects (NTD) are the most common entities with this type of inheritance. It has been recognized that poor folic acid intake and the presence of C677Tpolymorphism on the MTHFR gene are both important environmental and genetic factors related to NTD development, through the rise of circulating blood homocysteine levels. Based on the close embryonic relationship at some processes between cardiac and neural tube development, it is thought that MTHFR enzyme could be actively involved on CHD development. Furthermore, different studies have demonstrated that there is a 24% risk reduction for CHD development when multivitamin intake schedule is followed even on the presence of C677T MTHFR polymorphism. At the same time, rises on homocysteine concentrations in mothers of patients affected by CHD, have been noticed in amniotic fluid as well as maternal plasma. Experimental Biology studies show that rises on homocysteine levels have a teratogenic effect producing NTD, CHD and some other malformative events. This paper, review how information regarding the possible relation between C677T MTHFR polymorphism, homocysteine levels and CHD development, in an attempt to establish possible preventive measures for CC through folic acid intake.

Keywords : Congenital heart disease; homocysteine; MTHFR.

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