Conotruncal Heart Defects: Altered Tissue Morphology and Hemodynamics

Conotruncal Heart Defects: Altered Tissue Morphology and Hemodynamics

1 Biomedical Engineering Program, College of Engineering and Computing, University of South Carolina, Columbia, SC 29208, USA 2 Department of Cell Biology and Anatomy, University of South Carolina School of Medicine, Columbia, SC 29209, USA 3 Department of Pediatrics (Neonatology), Neonatal-Perinatal Research Institute, Duke University Medical Center, Durham, NC 297710, USA 4 Department of Cell...

Genetic variation of infant reduced folate carrier (A80G) and risk of orofacial and conotruncal heart defects.

How folate reduces the risks of congenital anomalies is unknown. The authors focused on a gene involved in folate transport-reduced folate carrier-1 gene (RFC1). Using data from a California case-control study (1987-1989 births), the authors investigated whether the risks of orofacial clefts or conotruncal heart defects were influenced by a polymorphism of infant RFC1 or by an interaction betwe...

Subgross Morphology of Altered Breast Tissue

Gene-Gene Interactions in the Folate Metabolic Pathway and the Risk of Conotruncal Heart Defects

Conotruncal and related heart defects (CTRD) are common, complex malformations. Although there are few established risk factors, there is evidence that genetic variation in the folate metabolic pathway influences CTRD risk. This study was undertaken to assess the association between inherited (i.e., case) and maternal gene-gene interactions in this pathway and the risk of CTRD. Case-parent tria...

Molecular and Genetic Insights into Thoracic Aortic Dilation in Conotruncal Heart Defects

Thoracic aortic dilation (AD) has commonly been described in conotruncal defects (CTDs), such as tetralogy of Fallot, double outlet right ventricle and transposition of the great arteries, and truncus arteriosus. Several theories for this have been devised, but fairly recent data indicate that there is likely an underlying histologic abnormality, similar to that seen in Marfan and other connect...