title: [Oculo-auriculo-vertebral spectrum in patients with congenital heart defects].
abstract: BACKGROUND
  there have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs).
  
  
  OBJECTIVE
  to verify the frequency of OAVS in a sample of patients with major heart malformations.
  
  
  METHODS
  we evaluated a prospective cohort of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The diagnosis of OAVS was made based on the clinical data, considering standard criteria. The patients that met these criteria were submitted to high resolution GTG-Banding karyotype and fluorescence in situ hybridization for 22q11.2 microdeletion. Fisher's exact test (P < 0.05) was used for the statistical analysis.
  
  
  RESULTS
  During the period of evaluation, 330 patients were hospitalized for the first time in the ICU, but thirty of them did not participate in the study. Of the 300 patients that constituted the final sample, OAVS was verified in 3 cases (1%). All presented normal cytogenetic studies.
  
  
  CONCLUSIONS
  OAVS seems to be a frequent condition among patients with CHDs. However, we cannot exclude the possibility that the frequency of OAVS found in our study might have been underestimated due to the low rate of prenatal detection of CHDs and the limited access of patients to appropriate health care in our region. Future prospective studies with well defined clinical criteria and subjects with mild and major defects will be important to assess the role of OAVS in the general population of subjects with heart malformations.
authors.affiliation: Universidade Federal de Ciências da Saúde de Porto Alegre.
authors.forename: Rafael Fabiano Machado
authors.initials: RF
authors.lastname: Rosa
authors.forename: Paulo Ricardo Gazzola
authors.initials: PR
authors.lastname: Zen
authors.forename: José Antônio Monteiro
authors.initials: JA
authors.lastname: Flores
authors.forename: Eliete
authors.initials: E
authors.lastname: Golendziner
authors.forename: Carlo Benatti
authors.initials: CB
authors.lastname: Pilla
authors.forename: Tatiana
authors.initials: T
authors.lastname: Roman
authors.forename: Marileila
authors.initials: M
authors.lastname: Varella-Garcia
authors.forename: Giorgio Adriano
authors.initials: GA
authors.lastname: Paskulin
mesh_terms: D001938:Brazil / Q000453:epidemiology; D006053:Goldenhar Syndrome / Q000175:diagnosis / Q000453:epidemiology*; D006330:Heart Defects, Congenital / Q000453:epidemiology*; D006801:Humans; D007223:Infant; D015278:Intensive Care Units, Pediatric / Q000706:statistics & numerical data; D008297:Male; D011446:Prospective Studies