Familial carotid body paragangliomas and sensorineural hearing-loss: a new syndrome

Cardiovasc Surg. 1999 Jan;7(1):134-8. doi: 10.1016/s0967-2109(98)00005-2.


Background: Carotid body paragangliomas are rare tumors that are sometimes familial, the transmission of which is thought to be by genomic imprinting. We have treated a family who exhibited co-inheritance of carotid body paraganglioma and sensorineural hearing-loss, a relationship that has not been previously reported.

Methods: We studied a large Australian family who exhibited familial carotid body paragangliomas, many of whose members also suffered tinnitus or hearing-loss. This relationship was examined by reviewing the medical records of family members with confirmed tumors, carrying out neck ultrasonic scanning or computed tomography on their relatives to look for previously unrecognized tumors, and arranging audiometric testing. This information was used to characterize the type of hearing-loss present in this family and to construct a pedigree for the two traits.

Results: The hearing-loss observed in this family was sensorineural in character. Of 15 family members studied over four generations, eight were confirmed positive for both carotid body paraganglioma and sensorineural hearing-loss, two for the tumor only (one of whom did not have his hearing assessed) and one for hearing-loss alone. Four family members were negative for both traits.

Conclusions: The pedigree provides evidence of a previously undescribed association between familial carotid body paraganglioma and sensorineural hearing-loss, a combination that appears to be co-inherited in this family.

MeSH terms

  • Adult
  • Carotid Body Tumor / complications
  • Carotid Body Tumor / genetics*
  • Female
  • Genomic Imprinting*
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Pedigree
  • Syndrome