Otology/Neurotology

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

  1. David R. Friedmann MD1,
  2. Misha Amoils BA5,
  3. John A. Germiller MD, PhD7,8,
  4. Lawrence R. Lustig MD5,
  5. Christine M. Glastonbury MD6,
  6. Bidyut K. Pramanik MD2,
  7. Anil K. Lalwani MD1,3,4,*

Article first published online: 7 FEB 2012

DOI: 10.1002/lary.23205

Issue

The Laryngoscope

The Laryngoscope

Volume 122, Issue 4, pages 895–900, April 2012

Additional Information

How to Cite

Friedmann, D. R., Amoils, M., Germiller, J. A., Lustig, L. R., Glastonbury, C. M., Pramanik, B. K. and Lalwani, A. K. (2012), Venous malformations of the temporal bone are a common feature in CHARGE syndrome. The Laryngoscope, 122: 895–900. doi: 10.1002/lary.23205

Author Information

  1. 1

    Department of Otolaryngology, New York University School of Medicine, New York, New York

  2. 2

    Department of Radiology, New York University School of Medicine, New York, New York

  3. 3

    Department of Pediatrics, New York University School of Medicine, New York, New York

  4. 4

    Department of Physiology and Neuroscience, New York University School of Medicine, New York, New York

  5. 5

    Department of Otolaryngology, University of California, San Francisco, California

  6. 6

    Department of Radiology, University of California, San Francisco, California

  7. 7

    Division of Otolaryngology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

  8. 8

    Department of Otorhinolaryngology, University of Pennsylvania, Philadelphia, Pennsylvania, U.S.A.

*Division of Otology & Neurotology, Department of Otolaryngology-Head and Neck Surgery, Columbia University College of Physicians and Surgeons, 180 Fort Washington Avenue, Harkness Pavilion, 8th Floor, New York, NY 10032

  1. †

    Presented as a poster at the Triological Society Combined Sections Meeting, Scottsdale, Arizona, U.S.A., January 27–29, 2011.

  2. ‡

    The authors have no funding, financial relationships, or conflicts of interest to disclose.

Publication History

  1. Issue published online: 20 MAR 2012
  2. Article first published online: 7 FEB 2012
  3. Manuscript Accepted: 22 DEC 2011
  4. Manuscript Received: 17 NOV 2011

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Keywords:

  • Cochlear implants;
  • CHARGE syndrome;
  • venous malformations;
  • emissary veins;
  • petrosquamosal sinus;
  • Level of Evidence: 4

Abstract

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. Laryngoscope, 2012

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