Failure to diagnose congenital heart disease in infancy

Obective. To identify factors that predict failure to diagnose congenital h eart disease in newborns. Design. All fatal cases in the Baltimore-Washington Infant Study were compi led. The Baltimore-Washington Infant Study includes 4390 cases of infants w ith congenital cardiovascular malformations identified in a population-base d study between 1981 and 1989 in the Baltimore-Washington metropolitan area . Death occurred in 800 such infants in the first year of life. In 76 of th ese infants, death occurred before diagnosis of heart disease. These cases were identified by community search of autopsy records. Their characteristi cs are compared with those of infants who died after a cardiac diagnosis wa s made. Results. Infant characteristics (birth weight, gestational age, intrauterin e growth retardation, and chromosomal anomaly) are associated with death of infants with congenital cardiovascular malformations and with death of suc h infants before diagnosis. Diagnoses of coarctation of the aorta, Ebstein' s anomaly, atrial septal defect, and truncus arteriosus are overrepresented in infants found by community search, particularly in those infants withou t associated malformations. Paternal education is associated with failure t o diagnose congenital heart disease in life but other sociodemographic char acteristics of the infant's family are not. Conclusions. Diagnosis of congenital cardiovascular malformations requires close observation in the neonatal period. Analysis of age at death of infan ts with undiagnosed congenital cardiovascular malformation suggests that su ch infants may be at risk if discharged within the first 2 days of life.