Venous malformations of the temporal bone are a common feature in CHARGE syndrome.

OBJECTIVES/HYPOTHESIS: CHARGE (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and/or deafness) syndrome is a genetic disorder with prominent otolaryngologic features including choanal atresia and inner ear malformations. Recent experience with venous malformations during cochlear implant surgery prompted this study to define the spectrum of venous abnormalities in CHARGE and their surgical implications in otology.

STUDY

DESIGN

Retrospective review of medical and radiologic records from databases of patients with CHARGE syndrome from three tertiary care academic medical centers.

METHODS

Eighteen patients with CHARGE for whom temporal bone CT scans were available were included in the review.

RESULTS

Venous anomalies of the temporal bone were present in 10 of 18 (56%) patients. The most common were large emissary veins (n = 5). In two of these cases, these veins were associated with an ipsilateral a hypoplastic sigmoid sinus or jugular foramen. Other abnormalities included an aberrant petrosal sinus, venous lakes in proximity to the lateral venous sinus, condylar canal veins, and jugular bulb abnormalities, including a high riding bulb obscuring the round window niche and a dehiscent jugular bulb. In four of six patients undergoing cochlear implantation, the course of the aberrant vessel necessitated a change in the surgical approach, either during mastoidectomy or placement of the cochleostomy.

CONCLUSIONS

Temporal bone venous abnormalities are a common feature in CHARGE syndrome. The pattern of venous abnormality suggests that there is a failure of the sigmoid sinus/jugular bulb to fully develop, resulting in persistence of emissary veins. Recognition of these abnormal venous structures during otologic surgery is critical to avoiding potentially catastrophic bleeding.