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

Table 1

Characteristics of study cases and parents, Children’s Hospital of Philadelphia, 1997–2007.

Characteristic	Total (%) (n = 727)
Offspring sex
Male	430 (59.2)
Female	297 (40.8)
Race/ethnicity (parental mating pairs)
White	525 (72.2)
Black	74 (10.2)
Hispanic	22 (3.0)
Asian	20 (2.8)
Mixed	86 (11.8)
Primary diagnosis
Tetralogy of Fallot (TOF)	279 (38.4)
D-transposition of the great artery (D-TGA)	152 (20.9)
Ventricular septal defect (VSD)*	146 (20.1)
Double outlet right ventricle (DORV)	72 (9.9)
Isolated aortic arch anomaly (AAA)	38 (5.2)
Truncus arteriosus (TA)	21 (2.9)
Interrupted aortic arch (IAA)	19 (2.6)

∗Conoventricular or posterior malalignment type ventricular septal defect; coarctation of the aorta was present in 16 of the case individuals with a VSD.