Correlation of temporal bone HRCT, SLC26A4 gene and hearing loss in enlarged vestibular aqueduct

Abstract

Objective:To explore the correlation between high-resolution computed tomography（HRCT） of temporal bones, SLC26A4 gene mutation and hearing loss in patients with enlarged vestibular aqueduct（EVA）. Methods:The medical records of 257 subjects hospitalized for moderate to severe sensorineural hearing loss in the Department of Otolaryngology Head and Neck Surgery, Hainan General Hospital between May 2018 to 2021 were retrospectively reviewed. All included cases received audiological examination, HRCT scanning of temporal bones and SLC26A4 gene sequencing. According to the Valvassori standard, cases with the diameter from the common peduncle of the semicircular canal to the midpoint of the outer orifice of the vestibular aqueduct（MP） over 1.5 mm, or the diameter of the outer orifice of the vestibular aqueduct（OP） more than 2.0 mm were diagnosed as EVA. There were 22 cases（44 ears） of EVA in the study, aged between 6 months to 17 years old. Based on the hearing changes at birth and during growth, 18 ears of which were classified into the stable hearing group, while the other 26 ears in the unstable group. Moreover, all involved cases were grouped by MP（1.5 to <3.0 mm and ≥3.0 mm） and OP（2.0 to <4.0 mm and ≥4.0 mm）. SPSS 25.0 software was applied in the study. The correlation between hearing loss and MP and OP was analyzed. The results of HRCT of temporal bones and SLC26A4 gene sequencing were compared as well. Results:Though the size of MP and OP was not statistically different between the stable and hearing groups in EVA ears（P>0.05）, it was significantly correlated with the severity of hearing loss（P<0.05）. Of the 22 EVA patients diagnosed by HRCT, 21 were positive for SLC26A4 gene mutation. The positive rate of EVA by SLC26A4 gene sequencing was highly consistent with HRCT（Kappa=0.975）. Conclusion:The size of MP and OP in EVA patients was related to the degree of hearing loss, but not to the stable nature of hearing loss. Temporal bone HRCT scanning and SLC26A4 gene sequencing are highly consistent in the diagnosis of EVA. The latter has no radiation and can be combined with hearing screening for early diagnosis of EVA.