Prevalence of major congenital heart defects by race/ethnicity and sex

Background: Birth defects are a leading cause of infant morbidity and mortality globally and congenital heart defects (CHD) are the most prevalent birth defect with an annual prevalence of 6 to 12 per 1,000 live births.  Few studies provide race/ethnic-sex specific prevalence rates for types of CHD and it remains unclear whether racial/ethnic differences exist in overall or type-specific rates of CHD by sex.  Our purpose was to determine the prevalence of specific types of CHD for males and females among NH-Black, NH-White and Hispanic infants in the US. 
Methods: A retrospective cohort study was conducted with 16,788 singleton infants diagnosed with CHDs from the Florida Birth Defects Registry, born 1998–2003 to NH-White, NH-Black and Hispanic women aged 15-49.  Poisson regression was used to calculate race/ethnic-specific and defect-specific rate ratios (RR) for each sex, adjusted for maternal age and education, gestational age, fetal growth, parity, prenatal smoking and number of defects. 
Results: There was little racial/ethnic difference in overall CHD rates by sex.  After adjusting for covariates, NH-Black males had higher rates of pulmonary valve atresia/stenosis (RR=1.53; p<0.0001) but lower rates of aortic valve atresia/stenosis (RR=0.33, p<0.0001), and ventricular septal defect (VSD) (RR=0.79, p<0.0001) compared to NH-White males.  Hispanic males had lower prevalence of aortic valve atreisa/stenosis (RR=0.28, p<0.0001) and VSD (RR=0.79, p<0.0001), but higher prevalence of atrial septal defect (ASD) (RR=1.20, p<0.0001) compared to NH-White males.  There were fewer differences among females.  NH-Black females had lower rates of VSD (RR=0.77, p<0.0001) relative to NH-White females.  Hispanic females had lower rates of tetralogy of Fallot (RR=0.55, p<0.0001) and VSD (RR=0.84, p=0.0001), but higher rates of ASD (RR=1.19, p<0.0001) than NH-White females.
Conclusions: There were few differences in CHD prevalence rates by sex and race/ethnicity and variations observed may reflect racial/ethnic differences in environmental and genetic factors.