Familial carotid body tumors: a closer look.

Abstract

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. Clinically occult lesions in adult subjects were detected by means of high-resolution computed tomography. 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. 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.