title: Down syndrome: Prevalence and distribution of congenital heart disease in Brazil.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Postgraduate Program on Children's and Adolescents' Health, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
authors.forename: Beatriz Elizabeth Bagatin Veleda
authors.initials: BE
authors.lastname: Bermudez
authors.affiliation: Department of Pediatrics, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
authors.forename: Sandra Lira
authors.initials: SL
authors.lastname: Medeiros
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Mariane Bagatin
authors.initials: MB
authors.lastname: Bermudez
authors.affiliation: Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
authors.forename: Iolanda Maria
authors.initials: IM
authors.lastname: Novadzki
authors.affiliation: Department of Pediatrics, Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
authors.forename: Neiva Isabel Rodrigues
authors.initials: NI
authors.lastname: Magdalena
mesh_terms: D001938:Brazil / Q000453:epidemiology; D003430:Cross-Sectional Studies; D004314:Down Syndrome / Q000453:epidemiology*; D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000453:epidemiology; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D015995:Prevalence; D012189:Retrospective Studies; D017678:Sex Distribution