4 results match your criteria: "Hospital Infantil de México Federico Gómez. balderrabano_6@yahoo.es[Affiliation]"

Velocardiofacial syndrome in Mexican patients: Unusually high prevalence of congenital heart disease.

Int J Pediatr Otorhinolaryngol

November 2015

Department of Genetics, Hospital Infantil de México Federico Gómez, Calle Dr. Márquez 162, Colonia Doctores, Delegación Cuauhtémoc, C.P. 06720, Mexico City, Mexico. Electronic address:

Introduction: Velocardiofacial syndrome (VCFS) is the most common microdeletion syndrome with an incidence of 1:4000 live births. Its phenotype is highly variable with facial, velopharyngeal, cardiac, endocrine, immunologic and psychiatric abnormalities. It is caused by a microdeletion in chromosome 22q11.

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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.

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Article Synopsis
  • The study aimed to evaluate left ventricular function in patients who underwent successful repair of aortic coarctation and to identify factors that might lead to later functional issues.
  • Echocardiographic data from 40 patients (mean age 6.9 years at repair) showed improvements in ejection fraction and shortening fraction in the majority, but 47.5% still had abnormal myocardial performance indices post-repair.
  • Higher abnormalities in myocardial performance were found in patients with prior arterial hypertension, older age at repair, and more severe left ventricular issues prior to the procedure.
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Article Synopsis
  • The study aimed to analyze pulmonary venous flow in children with dilated cardiomyopathy and its relationship with mitral Doppler flow and functional class.
  • Results showed that all 14 patients had abnormal pulmonary venous flow, and 9 of them had abnormal diastolic function when assessed through mitral Doppler flow.
  • The findings suggest that pulmonary venous flow is a better indicator of diastolic function and correlates more closely with the functional class compared to mitral Doppler flow.
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