The Epidemiology of Cardiovascular Defects, Part I: A Study Based on Data from Three Large Registries of Congenital Malformations

Abstract

To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects out of 4.4 million live births and stillbirths. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. As expected, definitions and ascertained conditions differed among each of the registries. The total rates for severe defects were similar (1.43 per 1,000), but differed for specific defects. Clear differences in epidemiological characteristics existed for specific defects; for example, severe cardiac defects sex ratios were significantly high for hypoplastic left heart syndrome, d-transposition of great vessels, double outlet right ventricle, total anoralous pulmonary venous return, tetralogy of Fallot, and significantly low for pulmonary atresia without ventricular septal defect and endocardial cushion defect. Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects.

Presentation of congenital heart disease diagnosed at birth: analysis of 29,770 newborn infants

“…Entre os NM, a trissomia do cromos- Os defeitos anatômicos mais freqüentemente encontrados tanto entre RNV quanto entre NM foram CIA, CIV e PCA, em concordância com a literatura 12,21,23,[26][27][28] .…”

Spectrum of congenital heart defects in Croatia

“…The total rates for the 12 severe defects selected did not vary significantly between the studies [27,28]. We 209 counted rhythm disturbances in our current analysis, mostly paroxysmal supraventricular tachycardia and 210 neonatal bradycardia together with congenital atrioventricular block, because of recognized proportion of 4.9% 211 of all congenital heart diseases in our study.…”

“…Recent population-based epidemiological studies on congenital heart disease have 51 indicated a prevalence ranging from 4 to 14 per 1000 live births. The reported incidence of associated 52 extracardiac anomalies ranges from 7% to 45% [27][28][29].…”

“…For the purpose of this study, we define ''severe'' congenital heart defects as the following 12 conditions: 79 hypoplastic left heart syndrome (HLHS), single ventricle, tricuspid atresia, common arterial trunk, interrupted 80 aortic arch, pulmonary atresia without ventricular septal defect, complete transposition of great arteries (TGA), double outlet right ventricle (DORV), atrioventricular septal defects and common AV junction (AVSD), totally 82 anomalous pulmonary venous connection (TAPVR), tetralogy of Fallot, and Epstein's malformation of tricuspid 83 valve [27].…”

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

“…The etiology of CHD is complex and combines both environmental and genetic causes. 1,2 There are already 450 genes associated with CHD in humans and even more in genetically modified mice. 3,4 According to epidemiological study, the impact of genetic factors seems to vary depending on CHD type with a much higher recurrence risk in CHD associated with heterotaxy than in the most common CHD such as atrial and ventricular septal defects (ASD and VSD, respectively).…”