A rare case of familial carotid body tumor in a patient with bilateral fibromuscular dysplasia.
Carotid body tumors (CBTs) are neuroendocrine tumors that arise due to mutations of respiratory cycle enzymes. Fibromuscular dysplasia (FMD) is a disease that causes narrowing of medium-sized arteries. There is no documented link between CBT and FMD. In this article, we report a case of a patient with bilateral carotid FMD and familial CBT, including one in an identical twin who underwent successful surgical excision of the CBT. We describe specific considerations in the management of CBT in patients with concomitant carotid FMD. Also, we review the literature about the genetics of familial CBT and its possible relationship to the etiology of FMD.
Han
Daniel K
DK
Division of Vascular Surgery, Mount Sinai School of Medicine, New York, NY, USA.
Fishman
Eric W
EW
Walkup
Maggie H
MH
Olin
Jeffrey W
JW
Marin
Michael L
ML
Faries
Peter L
PL
D002345:Carotid Body Tumor / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D005260:Female; D005352:Fibromuscular Dysplasia / Q000150:complications* / Q000000981:diagnostic imaging; D020022:Genetic Predisposition to Disease; D006258:Head and Neck Neoplasms / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008875:Middle Aged; D010375:Pedigree; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014430:Twins, Monozygotic / Q000235:genetics*; D014656:Vascular Surgical Procedures