Familial carotid body tumors: A closer look

Purpose: A family spanning three generations with a history of familial carotid body tumors (CBTs) was studied, and previously proposed hypotheses of tumor characteristics and genetic mode of transmission were addressed. Methods: Clinically occult lesions in adult subjects were detected by means of...

Full description

Saved in:
Bibliographic Details
Published in:Journal of vascular surgery 1999-04, Vol.29 (4), p.649-653
Main Authors: Kohn, James S., Raftery, Kevin B., Jewell, Edward R.
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Carotid Body Tumor - diagnosis
Carotid Body Tumor - genetics
Carotid Body Tumor - surgery
Female
Humans
Male
Medical sciences
Neurology
Pedigree
Vascular diseases and vascular malformations of the nervous system
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Purpose: A family spanning three generations with a history of familial carotid body tumors (CBTs) was studied, and previously proposed hypotheses of tumor characteristics and genetic mode of transmission were addressed. Methods: Clinically occult lesions in adult subjects were detected by means of high-resolution computed tomography. Results: A 60% incidence of bilaterality of CBTs associated with multiple paragangliomas was noted in the family studied. The genetic mode for CBTs in this family was not simple autosomal dominant transmission and appeared to be paternally directed with complete penetrance. Conclusion: In patients with familial CBTs, high-resolution computed tomography is recommended for early screening as a means of prompting diagnosis and definitive treatment, an approach that minimizes morbidity and facilitates surgical excision. (J Vasc Surg 1999;29:649-53.)
ISSN:0741-5214
1097-6809
DOI:10.1016/S0741-5214(99)70310-1