Congenital Heart Disease: Prevalence at Livebirth

Abstract

The Baltimore-Washington Infant Study is a regional epidemiologic study of congenital heart disease. Among Infants born in the study area in 1981 and 1982, 664 had a diagnosis of congenital heart disease confirmed in the first year of life by echocardiography, cardiac catheterization, cardiac surgery, or autopsy. The prevalence rate was 3.7/1,000 livebirths for all cases and 2.4/1,000 livebirths for cases confirmed by invasive methods only. Diagnosis-specific prevalence rates of congenital heart disease are compared with those of eight previous case series. Changing diagnostic categorizations in the time span covered and methodological differences resulted in great variation of the data. However, the data of the New England Infant Cardiac Program which used the same case discovery methods showed similar occurrences of major morphologic abnormalities, suggesting that these are stable basic estimates in the eastern United States. For all case series, the rate of confirmed congenital heart disease was approximately 4/1,000 livebirths over the 40-year time span.

Spectrum of congenital heart defects in Croatia

“…The rates of specific cardiac defects in our study are generally comparable with 186 those reported from the Baltimore-Washington study by Ferencz et al and from EUROCAT registry [1,6,7]. As 187 expected, the most frequent diagnosis was ventricular septal defect, followed by atrial septal defect, patent 188 arterial duct, pulmonary stenosis, and atrioventricular septal defects.…”

“…The rate for atrioventricular septal defect is 4.3%, mean 196 percentage with regards to reports from other registries with rates from 1.34% to 7.4% [6,33]. Incidence of 197 atrioventricular septal defects varies in accordance with the age of the involved mothers due to fact that the 198 Down syndrome is more common in mothers who are more than 34 years old, and atrioventricular septal defects 199 are very frequent in those with Down syndrome [5,13].…”

“…Congenital cardiac malformations are frequently associated with other non-cardiac congenital malformations and chromosomal anomalies. Conversely, 48 syndromic infants constitute a substantial proportion of all children with congenital heart disease [6,11].…”

Prevalence of Congenital Heart Disease

“…Congenital heart diseases (CHD) are relatively common with a prevalence ranging from 3.7 to 17.5 per 1000 live births (1,2). According to a status report on CHD in India, 10% of the present infant mortality may be accounted for by CHD (3).…”

Mice with mutations in Mahogunin ring finger‐1 (Mgrn1) exhibit abnormal patterning of the left–right axis

“…Morbidity and mortality of laterality defects are generally attributed to associated complex congenital heart defects (CHDs), suggesting that the developing heart is particularly susceptible to disturbances in LR patterning (Kathiriya and Srivastava, 2000). Individuals with situs inversus have a higher incidence of CHDs than individuals with normal LR development (ϳ3% vs. Ͻ0.1%), whereas ϳ90% of individuals with heterotaxia or isomerism are estimated to show complex CHDs (Ferencz et al, 1985;Bowers et al, 1996;Freed, 2001;Walmsley et al, 2004;Ramsdell, 2005). Cardiac malformations most commonly associated with LR patterning defects include atrial and ventricular septal defects, single (common) ventricle, transposition of the great arteries, double-outlet right ventricle (DORV), and pulmonary stenosis or atresia (Freed, 2001).…”