Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features

Eur Arch Otorhinolaryngol. 2021 Jul;278(7):2305-2312. doi: 10.1007/s00405-020-06333-9. Epub 2020 Sep 10.


Purpose: When referring to enlarged vestibular aqueduct (EVA) we should differentiate between nonsyndromic enlarged vestibular aqueduct (NSEVA) and Pendred Syndrome (PDS), a disease continuum associated with pathogenic sequence variants of Pendrin's Gene (SLC26A4) in about half of the cases. The study was aimed to analyse the clinical and audiological features of a monocentric cohort of Caucasian patients with NSEVA/PDS, their genetic assessment and morphological inner ear features.

Methods: We retrospectively reviewed the audiologic, genetic and anamnestic data of 66 patients with NSEVA/PDS followed by our audiology service.

Results: SLC26A4 mutations was significantly correlated with the presence of PDS rather than NSEVA (p < 0.019), with the expression of inner ear malformations (p < 0.001) and with different severity of hearing loss (p = 0.001). Furthermore, patients with PDS showed significantly worse pure tone audiometry (PTA) than patients with NSEVA (p = 0.001). Anatomically normal ears presented significantly better PTA than ears associated with Mondini Malformation or isolated EVA (p < 0.001), but no statistically significative differences have been observed in PTA between patients with Mondini Malformation and isolated EVA.

Conclusion: NSEVA/PDS must be investigated in all the congenital hearing loss, but also in progressive, late onset, stepwise forms. Even mixed or fluctuating hearing loss may constitute a sign of a NSEVA/PDS pathology. Our findings can confirm the important role of SLC26A4 mutations in determining the phenotype of isolated EVA/PDS, both for the type/degree of the malformation, the hearing impairment and the association with thyroid dysfunction.

Keywords: Enlarged vestibular aqueduct; Hearing loss; Inner ear malformation; Mondini Malformation; Pendred Syndrome.

MeSH terms

  • Audiology*
  • Hearing Loss, Sensorineural* / diagnostic imaging
  • Hearing Loss, Sensorineural* / genetics
  • Humans
  • Membrane Transport Proteins / genetics
  • Mutation
  • Retrospective Studies
  • Sulfate Transporters / genetics
  • Vestibular Aqueduct* / abnormalities
  • Vestibular Aqueduct* / diagnostic imaging


  • Membrane Transport Proteins
  • Sulfate Transporters

Supplementary concepts

  • Deafness, Autosomal Recessive 4