OBJECTIVE: To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS), in an effort to correlate presence of these defects with other clinical characteristics and evolution. METHODS: The sample comprised 33 subjects, all attended in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female and their ages ranged from 1 day to 17 years. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. RESULTS: Cardiac abnormalities were observed in 13 patients (39.4%). Of these defects, 5 (38.5%) were conotruncal, tetralogy of Fallot being the main malformation (n=2). Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them, bearers of congenital heart defects. CONCLUSION: Cardiac malformations, mainly conotruncal and septal defects, are frequent among patients with OAVS. Frequency found in our study was statistically similar to the majority of works described in literature where it ranged from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.
Goldenhar Syndrome; Facial Asymmetry; Congenital Heart Defects
