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Objectives/Hypothesis Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA). Study Design Prospective cohort survey, National Institutes of Health, Clinical Center, a federal biomedical research facility. Methods 83 individuals, 11 months to 59 years of age, with EVA in at least one ear. Correlations among pure-tone hearing thresholds, number of mutant SLC26A4 alleles, and the presence of cochlear anomalies detected by computed tomography or magnetic resonance imaging. Results Linear mixed-effect model indicates significantly poorer hearing in ears with EVA from individuals with two mutant alleles of SLC26A4 than in those with EVA and a single mutant allele (p = .012) or no mutant alleles (p = .007) in this gene. There was no detectable relationship between degree of hearing loss and the presence of structural cochlear anomalies. Conclusions The number of mutant alleles of SLC26A4, but not the presence of cochlear anomalies, has a significant association with severity of hearing loss in ears with EVA. This information will be useful for prognostic counseling of patients and families with EVA.

This descriptive series shows a consistent outcome in more than double the number of cases previously reported in the previously published series. We believe that EPCSCG is an important option to have in the management of pediatric glottis/subglottic stenosis and bilateral vocal fold immobility.

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