Polymorphism 677C → T MTHFR gene in Mexican mothers of children with complex congenital heart disease.

Congenital heart defects (CHD) are the third leading cause of death in children <1 year of age in Mexico where there is a high prevalence of the 677C → T polymorphism of the MTHFR gene. This is important because the homozygous 677T/T MTHFR gene and deficiency of folic acid (FA) intake have been associated with CHD. Our objective was to analyze the possible association between the genotype 677T/T of the MTHFR gene and supplementation of FA in Mexican women with the presence of complex CHD in their children. We analyzed genotypes of 31 mothers of children with complex CHD (group I) and 62 mothers of healthy children (group II) and investigated FA supplementation during pregnancy in both study groups. Allele frequencies in group I were 41.9 % for C and 58.1 % for T and 22.6 % for genotype frequencies CC, 38.7 % for CT, and 38.7 % for TT. Allele frequencies in group II were 63.7 % for C and 36.3 % for T and 38.7 % for genotype frequencies CC, 50 % for CT and 11.3 % for TT. Both populations are in Hardy-Weinberg equilibrium. Odds ratio for having a child with a complex CHD was 5.9, p = 0.008 (95 % CI 1.67; 20.63) for the TT genotype. FA supplementation at any time during pregnancy was 90.3 and 87.9 % in groups II and I respectively (p > 0.05). Association was found between the maternal genotype (677/TT MTHFR) with the presence of complex CHD in their offspring. No differences in FA supplementation during any stage were found between groups.

Maternal Obesity as a Risk Factor for the Development of Total Anomalous Pulmonary Venous Connection in Their Offspring.

The incidence of total anomalous pulmonary venous connection (TAPVC) in the Caucasian population is 2.5/100,000 live births (LB), and the incidence in the Hispanic population is 19.8/100,000 LB. Without knowing the exact etiology for the development of congenital heart disease, our objective was to determine the maternal factors associated with the development of TAPVC. METHODS: 55 mother-child binomials with isolated TAPVC (group I) and 152 healthy mother-child binomials (group II) were included. Both groups had no maternal history of addiction, pre-eclampsia, or type 1, 2 or gestational diabetes mellitus. Complete clinical histories were obtained for the women in both groups and perinatal and birth data were recorded. In addition, genealogies across three generations were constructed to determine affected first- or second-degree relatives with complex congenital heart disease. RESULTS: Among the maternal characteristics analyzed, women in group I had a higher number of pregnancies before gestation of the index case (p = <0.05), and the Body Mass Index (BMI) before pregnancy was higher compared to Group II (p < 0.05), with an adjusted risk of OR = 3.6 (p = 0.011). The family history showed a higher prevalence in the group of patients with TAPVC compared to healthy children (p < 0.05). CONCLUSION: Maternal obesity before pregnancy is a risk factor for the development of CATVP in children in the Mexican population.

[Left ventricular function in children after successful repair of aortic coarctation]. / Función ventricular izquierda en niños después de la reparación exitosa de la coartación aórtica.

INTRODUCTION AND OBJECTIVES: Lifetime prognosis following successful repair of aortic coarctation can be affected by a number of late complications. The objective of this study was to assess left ventricular function in these patients and to identify factors that predispose to functional abnormalities. METHODS: The study involved patients who had undergone repair of aortic coarctation and who had a pressure gradient pound 15 mmHg after repair and normal systemic blood pressure. Echocardiographic data collected before repair and the results of the most recent postoperative left ventricular function studies were analyzed. RESULTS: The study involved 40 patients and 31 controls. Their mean age at repair was 6.9 years and the mean follow-up period was 4.25 years. During follow-up, the ejection fraction and the shortening fraction were observed to increase in 82.5% and 67.5% of patients, respectively. The myocardial performance index was abnormal in 47.5% of patients. The highest myocardial performance indices were observed in patients with arterial hypertension at diagnosis, in those who were aged over 4 years when they underwent repair, and in those with the most abnormal left ventricles before repair. CONCLUSIONS: Measurement of the myocardial performance index showed that global left ventricular function was abnormal in 47.5% of patients after successful repair of aortic coarctation despite functional parameters being normal or elevated.