Investigation of the role of congenital cytomegalovirus infection in the etiology of enlarged vestibular aqueducts

Arch Otolaryngol Head Neck Surg. 2005 May;131(5):388-92. doi: 10.1001/archotol.131.5.388.


Objective: To determine whether congenital cytomegalovirus (CMV) infection is an etiologic factor in the pathogenesis of enlarged vestibular aqueducts (EVA).

Design: Two different cohort studies. Subjects The study population comprised 19 subjects with a history of congenital CMV infection and sensorineural hearing loss (cohort 1); 39 subjects with nonsyndromic EVA and their unaffected mothers (cohort 2); and 16 control subjects with EVA associated with Pendred syndrome and bi-allelic mutations of the SLC26A4 gene and their unaffected mothers.

Results: In cohort 1, we detected EVA in 0 of 19 subjects with congenital CMV infection and sensorineural hearing loss. In cohort 2, anti-CMV serologic profiles were consistent with possible congenital CMV infection in 10 (26%) of 39 subjects with nonsyndromic EVA and 6 (38%) of 16 control subjects with Pendred syndrome (P = .52). These seroprevalence rates are similar to those expected in the general population (40%).

Conclusion: In spite of their auditory phenotypic similarities, congenital CMV infection is not a significant factor in the etiology of EVA.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Audiometry
  • Child
  • Child, Preschool
  • Cohort Studies
  • Cytomegalovirus Infections / complications*
  • Cytomegalovirus Infections / congenital*
  • Cytomegalovirus Infections / genetics
  • Female
  • Hearing Loss, Sensorineural / virology
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Vestibular Aqueduct / virology*