Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

Abstract

CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING: Cross-sectional study conducted in a referral center. METHODS: Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0%) had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS: Among the 604 patients with congenital heart disease, 338 (55.8%) were male and 269 (44.5%) were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%); total atrioventricular septal defect in 91 (15.1%); atrial septal defect and ventricular septal defect in 88 (14.6%); ventricular septal defect in 77 (12.7%); patent ductus arteriosus in 40 (6.6%); patent foramen ovale in 34 (5.6%) patients; tetralogy of Fallot in 12 (2%); and other diseases in 8 (1.3%). Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. CONCLUSION: The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity. RESUMO

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

“…In these patients, the most frequent forms of CHD are atrioventricular septal defects (AVSD), ventricular septal defects (VSD) and atrial septal defects (ASD) [6,7]. The reported prevalence of these defects varies among studies [8][9][10][11][12][13][14]. This could reflect inherent characteristics of the studied populations, such a higher frequency of genetic variances that predispose to the presence of AVSD [5,[15][16][17][18][19].…”

Association of congenital heart diseases with extracardiac anomalies

“…The prevalence of congenital heart disease in down syndrome was similar to the findings from other studies, which have been between 44% and 62%. [13][14][15][16] The actual incidence of congenital heart disease with or without extracardiac anomalies, exactly can be determined if we have included all live births, fetal deaths and spontaneous and induced abortions. However, in this study, fetal deaths and abortions were not studied.…”

Congenital Visceral Malformations in Children with Down Syndrome (DS) Followed in the Pediatric Unit of the CNHU, Cotonou, Bénin

“…In a recent publication with the description of CHDs among Swedish live born infants with DS from 1992 to 2012, the rate of AVSD decreased from 46% to 30%, whereas the rate of ventricular septal defect had doubled from 14% to 31% [20]. In a Brazilian study conducted on 604 children with DS, atrial septal defect (ASD) was the main CHD at 42.1%, followed by AVSD at 15.1% [6]. Ventricular septal defect was the most commonly isolated lesion in a study in China, affecting 45.6% of DS patients, while patent ductus arteriosus (PDA) was the most frequent in a report from Guatemala (26.5%) [21,22].…”

“…Its clinical features include psychomotor delay, hypotonia, dysmorphism ± malformations [4][5][6]. The most important of these malformations affected heart with a frequency that ranges from 44% to 58 % [5][6][7]. Congenital heart diseases (CHDs) are considered to be the most important clinical phenomenon of DS contributing to morbidity and mortality in affected infants [8].…”

“…It results from the presence of three copies of chromosome 21 in the cells, and affects approximately one newborn per every 650 to 1000 live births [1][2][3]. Its clinical features include psychomotor delay, hypotonia, dysmorphism ± malformations [4][5][6]. The most important of these malformations affected heart with a frequency that ranges from 44% to 58 % [5][6][7].…”