OBJECTIVE The purpose of this study was to examine associations between prepregnancy body mass index (BMI) and congenital heart defects (CHDs). STUDY DESIGN These analyses included case infants with CHDs (n = 6440) and liveborn control infants without birth defects (n = 5673) enrolled in the National Birth Defects Prevention Study (1997-2004). RESULTS Adjusted odds ratios for all CHDs combi...

One of the puzzling things about genetic disruptions in mice that affect heart development is the overwhelming number of conotruncal anomalies and the infrequency with which certain other malformations are reported. For instance, venous malformations such as total anomalous pulmonary venous return (TAPVR) or partial anomalous pulmonary venous return (PAPVR) have not been reported in a mutant mo...

The cardiac outflow tract (OFT) of birds and mammals undergoes complex remodeling in the transition to a dual circulation. We have previously suggested a role of myocardial hypoxia and hypoxia inducible factor (HIF)-1 in the apoptosis-dependent remodeling of the OFT. In the present study, we transduced recombinant adenovirus-mediated HIF-1alpha in embryonic chick OFT myocardium to test its role...

BACKGROUND Recent reports have identified mutations in the transcription factor GATA4 in familial cases of cardiac septal defects. The prevalence of GATA4 mutations in the population of patients with septal defects is unknown. Given that patients with septal and conotruncal defect can share a common genetic basis, it is unclear whether patients with additional types of CHD might also have GATA4...

One of the puzzling things about genetic disruptions in mice that affect heart development is the overwhelming number of conotruncal anomalies and the infrequency with which certain other malformations are reported. For instance, venous malformations such as total anomalous pulmonary venous return (TAPVR) or partial anomalous pulmonary venous return (PAPVR) have not been reported in a mutant mo...

BACKGROUND Evidence exists for an association between use of vitamin supplements with folic acid in early pregnancy and reduced risk for offspring with conotruncal heart defects. A few observations have been made about nutrients related to one-carbon metabolism other than folate. Our prospective study attempted to extend information on nutrition and conotruncal heart defects by measuring analyt...

BACKGROUND The surgical outcome of conotruncal heart defects in patients with genetic syndromes has been poorly studied. The aim of this prospective 5-year multicenter study was to elucidate the post-surgical death rate of children with conotruncal heart defects in relation to the presence of associated genetic syndromes. METHODS Two institutions enrolled 350 consecutive inpatients with conot...

The 22q11 deletion syndrome (22q11DS), or velocardiofacial/DiGeorge syndrome, is considered to be the second most known genetic cause of congenital heart disease (CHD).1 Our aim was to evaluate the effectiveness of different screening methods for 22q11DS in patients with CHD. Our study evaluated a consecutive sample of patients with CHD hospitalized for the first time in a pediatric and cardiac...