Background: Reported frequency and type of cardiovascular malformations in patients with Oculo-Auriculo-Vertebral
Spectrum (OAVS) are documented to vary; however, a systematic review of these studies is lacking.
Objective: To systematically review the frequency and type of cardiovascular malformations in patients with OAVS.
Material and Method: A systematic literature search was conducted through PubMed and Scopus between 1952 and June
2017 using search terms of cardiovascular malformations or congenital heart diseases and oculoauriculovertebral spectrum
[Oculo-Auriculo-Vertebral spectrum].
Results: Of the 22 studies included, there were 348 (21%; range, 1 to 58%) patients with cardiovascular malformations
found in a study population of 1,685 (range, 7 to 294) cases of OAVS. The patients, who had cardiovascular malformations,
also had higher frequencies of either vertebral anomalies or associated extra-craniofacial abnormalities in other organ systems. In the large population based studies, the conotruncal heart diseases (cardiac defects in the outflow parts of the heart,
i.e., tetralogy of Fallot or truncus arteriosus) were significantly associated with OAVS.
Conclusion: Cardiovascular malformations occur commonly in patients with OAVS and some patients may be related to
developmental defects of neural crest cells. Therefore, all the patients with OAVS should have thoroughly cardiovascular
examinations with special attention to the patients with vertebral anomalies or associated extra-craniofacial anomalies.

Keywords: Oculoauriculovertebral spectrum, Cardiovascular malformations, Congenital heart diseases, Goldenhar syndrome,
Hemifacial microsomia, Frequency, Type