Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery

Paul Kruszka, Ashley Buscetta, Maria T. Acosta, Nicole Banks, Yonit A. Addissie, Camilo Toro, Marie Luby, Lawrence Latour, Gilbert Vezina, David C. Page, Maximilian Muenke

Research output: Contribution to journalArticle

Abstract

Purpose: Turner syndrome (TS) is the most common sex chromosome disorder in women and is associated with a higher than expected death rate secondary to cerebrovascular disease, including stroke. This study evaluates the cerebral vascular anatomy of individuals with TS. Methods: Twenty-one women with TS had brain magnetic resonance angiography (MRA). These MRAs were evaluated in a blinded manner with a control group of 25 men and 25 women who had MRA imaging for multiple indications including migraine headaches, psychiatric disorders, and seizures. Results: Twenty-nine percent of women with TS were missing an A1 segment of the anterior cerebral artery (ACA) compared to 0% in the control group (p <.001). There were no other significant differences in the circle of Willis (COW) in women with TS compared with the control group. A complete COW was found in 3 of 21 (14%) of women with TS and 12 of 47 (26%) controls (p =.36). Conclusion: Women with TS have a significantly different intracranial vascular anatomy, specifically the absence of the A1 segment of the ACA when compared to male and female controls. More research in brain imaging in women with TS and stroke and other cerebrovascular diseases is needed to determine the clinical significance of this anomaly.

Original languageEnglish (US)
Pages (from-to)1584-1588
Number of pages5
JournalBirth defects research
Volume111
Issue number19
DOIs
StatePublished - Nov 15 2019

Fingerprint

Circle of Willis
Anterior Cerebral Artery
Turner Syndrome
Angiography
Magnetic resonance
Brain
Cerebrovascular Disorders
Magnetic Resonance Angiography
Imaging techniques
Sex Chromosome Disorders
Control Groups
Blood Vessels
Anatomy
Stroke
Headache Disorders
Migraine Disorders
Neuroimaging
Psychiatry
Seizures
Magnetic Resonance Imaging

Keywords

  • Turner syndrome
  • cerebrovascular disease
  • circle of Willis
  • magnetic resonance angiography
  • monosomy X

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Toxicology
  • Developmental Biology
  • Health, Toxicology and Mutagenesis

Cite this

Kruszka, P., Buscetta, A., Acosta, M. T., Banks, N., Addissie, Y. A., Toro, C., ... Muenke, M. (2019). Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery. Birth defects research, 111(19), 1584-1588. https://doi.org/10.1002/bdr2.1609

Circle of Willis anomalies in Turner syndrome : Absent A1 segment of the anterior cerebral artery. / Kruszka, Paul; Buscetta, Ashley; Acosta, Maria T.; Banks, Nicole; Addissie, Yonit A.; Toro, Camilo; Luby, Marie; Latour, Lawrence; Vezina, Gilbert; Page, David C.; Muenke, Maximilian.

In: Birth defects research, Vol. 111, No. 19, 15.11.2019, p. 1584-1588.

Research output: Contribution to journalArticle

Kruszka, P, Buscetta, A, Acosta, MT, Banks, N, Addissie, YA, Toro, C, Luby, M, Latour, L, Vezina, G, Page, DC & Muenke, M 2019, 'Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery', Birth defects research, vol. 111, no. 19, pp. 1584-1588. https://doi.org/10.1002/bdr2.1609
Kruszka P, Buscetta A, Acosta MT, Banks N, Addissie YA, Toro C et al. Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery. Birth defects research. 2019 Nov 15;111(19):1584-1588. https://doi.org/10.1002/bdr2.1609
Kruszka, Paul ; Buscetta, Ashley ; Acosta, Maria T. ; Banks, Nicole ; Addissie, Yonit A. ; Toro, Camilo ; Luby, Marie ; Latour, Lawrence ; Vezina, Gilbert ; Page, David C. ; Muenke, Maximilian. / Circle of Willis anomalies in Turner syndrome : Absent A1 segment of the anterior cerebral artery. In: Birth defects research. 2019 ; Vol. 111, No. 19. pp. 1584-1588.
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