While early diagnosis of congenital heart disease has improved over the last two decades, missed or delayed diagnosis still continues to be a significant problem. Researchers from California evaluated the rate and demographic characteristics of missed diagnosis of critical congenital heart disease (CCHD). They involved 898 infants who died of CCHD within a year of birth who either did not undergo surgery or had an unknown surgery status. Their details were examined as to whether autopsies were performed and autopsy results were used to establish the cause of death. It was found that 152 i.e. 17 percent of infants had a missed diagnosis of CCHD. The age at death for this group was 13 days. The most common diagnoses were hypoplastic left heart syndrome, in which a baby was born with small or no left chambers of the heart, and abnormal narrowing of the aorta, the main artery of the heart. The average age at death in cases of a missed diagnosis of CCHD was less than 2 weeks, so a careful cardiovascular evaluation should be done at 3 to 5 days of age.
Archives of Pediatrics and Adolescent Medicine
October 2008