[Oculo-auriculo-vertebral spectrum in patients with congenital heart defects]. / Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos.
Arq Bras Cardiol
; 95(4): 436-9, 2010 Oct.
Article
em Mul
| MEDLINE
| ID: mdl-20802965
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. CONCLUSION: 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Goldenhar
/
Cardiopatias Congênitas
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Limite:
Humans
/
Infant
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
Mul
Revista:
Arq Bras Cardiol
Ano de publicação:
2010
Tipo de documento:
Article
País de publicação:
Brasil