[Oculo-auriculo-vertebral spectrum in patients with congenital heart defects].
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.
Rosa
Rafael Fabiano Machado
RF
Universidade Federal de Ciências da Saúde de Porto Alegre.
Zen
Paulo Ricardo Gazzola
PR
Flores
José Antônio Monteiro
JA
Golendziner
Eliete
E
Pilla
Carlo Benatti
CB
Roman
Tatiana
T
Varella-Garcia
Marileila
M
Paskulin
Giorgio Adriano
GA
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