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Autosomal dominant 50 NKX2.5 GATA4 MHC6 108,109 108 110 Modified from Calcagni G, Digilio MC, Sarkozy A, Dallapiccola B, Marino B Familial recurrence of congenital heart disease: an overview and review of the literature Eur J Pediatr 2007;166:111– 116 Systemic Factors Systemic factors are those that result from changes to the systems providing health care and include improved prenatal diagnosis and survival into adulthood Prenatal diagnosis allows for selective termination and fetal interventions, which may alter the prevalence at live birth Improvements in management of most congenital cardiac lesions have led to improved survival into adulthood This has resulted in dramatic changes in the point prevalence of congenital cardiac disease, its spectrum, and its demographics Reported Prevalence of Congenital Heart Disease It is unlikely that any single study will give the definitive estimate of the prevalence of congenital heart defects because such studies differ, sometimes widely, in methodology, quality, population, and period of time studied One of the first reports was from a cardiac substudy of the Collaborative Study of Cerebral Palsy, Mental Retardation, and Other Neurological and Sensory Disorders of Infancy and Childhood, published in 1971.26 This study prospectively enrolled pregnant mothers at 12 participating large institutions within the United States and then repeatedly assessed the infants up to the age of 7 years The study included still births Hospital and outpatient records, and autopsy reports, were reviewed for diagnoses of congenital heart disease From 56,109 births, 457 cases were identified, with 178 diagnosed at autopsy, 36 from surgical findings, 42 from cardiac catheterization, and 201 from clinical evaluation only This gave an estimate of prevalence of 8.1 per 1000 births The prevalence among live births only was 7.7 but among still births only was 27.5 For those live born, the prevalence among those who died earlier than 28 days after birth was 73.2 per 1000 deaths and among those who died between 28 days and 1 year was 112.6 per 1000 deaths Ventricular septal defect was the most frequent diagnosis, occurring in 133, or 30%, of the 457 cases Table 13.6 summarizes findings from some of the large studies that have evaluated the prevalence of congenital cardiac disease Table 13.6 Summary of Some Important Studies Evaluating the Prevalence of Congenital Cardiac Disease Reference Mitchell.26 (Collaborative Study of Cerebral Palsy, Mental Retardation, and Other Neurological and Sensory Disorders of Study Period Before 1971 Study Country United States Denominatorb Study Design 56,000 births Prospective cohort that included pregnant women and followed till age of 7 years Method of Verification Autopsy Cardiac surgery Cardiac catheterization Clinical confirmation Prevalencea 8.1 Infancy and Childhood) Report of the New England Regional Infant Cardiac Program.27 1968– United 1974 States 1 million births Carlgren.35 1981 93,000 births Ferencz.56 (The BaltimoreWashington Infant Study) Hiraishi.28 1981– United 1989 States Oster.30 (Metropolitan Atlanta Congenital Defects Program Study) Sweden Retrospective review Denominator identified from vital statistics Retrospective using national registries 907,000 births Prospective cohort study Before Japan 1000 births 1992 1998– Metropolitan 398,000 births 2005 Atlanta United States Autopsy Cardiac surgery Cardiac catheterization 2.08 Autopsy 9.1 Cardiac surgery Cardiac catheterization Echocardiography Echocardiography 4.84 Catheterization Prospective Echocardiography cohort study Retrospective Not mentioned review 24.3 8.14 aCases per 1000 bApproximated to the closest 1000 The New England Regional Infant Cardiac Program began in 1969 and included the six states in the New England region.27 Medical records from hospitals and practitioners were reviewed From 1968 through 1974, 2251 cases were ascertained, which gave an estimate of prevalence of 2.08 per 1000 births All cases except 18 were verified by autopsy, surgery, or cardiac catheterization The prevalence increased from 1.82 in 1969 to 2.20 in 1974 When cases were included that had been identified only from death certificates, the prevalence increased to 2.34 in 1969 and 2.62 in 1974 Ventricular septal defects accounted for approximately 17% of the cases A national study from Sweden used four different registries for ascertainment of those born alive with congenitally malformed hearts during 1981.28 A total of 853 cases were identified from 93,678 live and still births, giving a prevalence at birth of 9.1 per 1000 Of these cases, 75 were coded as suspected cardiac malformations, 2 coded as cardiac malposition, and 68 with only an arterial duct and a birth weight less than 2500 g One of the most contemporary estimates of prevalence at live birth comes from the Baltimore-Washington Infant Study.4 This study involved an identified