Moyamoya Syndrome & Down Syndrome

Blood Pressure Elevation and Risk of Moyamoya Syndrome in Patients With Trisomy 21

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OBJECTIVES: Individuals with Down syndrome (DS) are at risk for the development of
moyamoya syndrome (MMS); MMS is often recognized only after a resulting stroke has
occurred. Our goal with this study was to determine if elevations in blood pressure (BP)
precede acute presentation of MMS in individuals with DS.

METHODS: A single-center, retrospective case-control study was performed. Thirty patients
with MMS and DS and 116 patients with DS only were identified retrospectively. Three
BP recordings were evaluated at set intervals (18–24 months, 12–18 months, and
6–12 months before diagnosis of MMS). These were then compared against control
averages from patients with DS only. To assess changes over the time, we used general
linear model repeated measures analysis of variance. To identify independent predictors
of MMS and DS, we used a multivariable analysis using generalized estimating equations
accounting for repeated measures of BP.

RESULTS: BP in patients with MMS and DS rose significantly over the 24-month period
preceding presentation (34th, 42nd, and 70th percentiles at the 18–24–month, 12–18–
month, and 6–12–month periods, respectively). BPs in the patients with both MMS and DS
were significantly higher than in the DS-only controls in the 6 to 12 (P < .001) and 12 to
18 months before presentation (P = .016). Higher Suzuki scores, bilateral disease, and
posterior circulation involvement were also predictive of BP elevation before presentation.

CONCLUSIONS: Elevations in BP may foreshadow presentation of MMS in individuals with DS.
This simple, low-cost screening measure may lead to early identification of at-risk patients
in the medical home and prevent irreversible neurologic injury.