title: Epidemiological characterization of congenital heart disease in São Miguel Island, Azores, Portugal.
abstract: OBJECTIVE
  This study aimed to characterize the prevalence of congenital heart disease (CHD) in children born alive in São Miguel island from January 1992 to December 2001.
  
  
  METHODS
  Based on the Azorean Registry of CHD, which includes complete clinical and personal information, 189 patients were diagnosed.
  
  
  RESULTS
  During this 10-year period, the average prevalence of CHD is 9.16 per 1,000 live births (range 4.77-12.75). The most frequent cardiac malformations found were: ventricular septal defect (38.1%), atrial septal defect (12.2%) and patent ductus arteriosus (11.6%). Until now, four familial clusters were identified, representing a total of 13 patients.
  
  
  CONCLUSIONS
  This first epidemiological study of CHD in the Azorean population reveals evidence for familial aggregation, which is of great interest for understanding the genes involved in these complex pathologies.
authors.affiliation: Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.
authors.forename: Teresa
authors.initials: T
authors.lastname: Cymbron
authors.forename: Rui
authors.initials: R
authors.lastname: Anjos
authors.forename: Rita
authors.initials: R
authors.lastname: Cabral
authors.forename: Clara
authors.initials: C
authors.lastname: Macedo
authors.forename: Carlos
authors.initials: C
authors.lastname: Pereira Duarte
authors.forename: Luisa
authors.initials: L
authors.lastname: Mota-Vieira
mesh_terms: D005260:Female; D006330:Heart Defects, Congenital / Q000453:epidemiology*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011174:Portugal / Q000453:epidemiology; D015995:Prevalence