Document Detail

[Oculo-auriculo-vertebral spectrum in patients with congenital heart defects].
MedLine Citation:
PMID:  20802965     Owner:  NLM     Status:  In-Process    
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.
Rafael Fabiano Machado Rosa; Paulo Ricardo Gazzola Zen; José Antônio Monteiro Flores; Eliete Golendziner; Carlo Benatti Pilla; Tatiana Roman; Marileila Varella-Garcia; Giorgio Adriano Paskulin
Publication Detail:
Type:  English Abstract; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-09-03
Journal Detail:
Title:  Arquivos brasileiros de cardiologia     Volume:  95     ISSN:  1678-4170     ISO Abbreviation:  Arq. Bras. Cardiol.     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-12-24     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0421031     Medline TA:  Arq Bras Cardiol     Country:  Brazil    
Other Details:
Languages:  mul     Pagination:  436-9     Citation Subset:  IM    
Universidade Federal de Ciências da Saúde de Porto Alegre.
Vernacular Title:
Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos.
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