Abstract TP336: Acute Stroke in CADASIL

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Abstract

Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a common genetic cause of cerebral small vessel disease. In addition to ischemic stroke (IS), patients with CADASIL may also suffer from intracerebral hemorrhage (ICH). This study aimed to clarify the acute stroke presentation among CADASIL patients in Taiwan.

Methods: We enrolled 106 genetically confirmed CADASIL patients (49 from a single university hospital; 57 from positive screening results of NOTCH3 R544C hotspot mutation in a national stroke registry). Acute stroke events with well-documented clinical and neuroimaging features of were included for further analysis.

Results: There were 25 (38%) ICH among 66 patients with well-documented acute stroke events. The mean ICH volume was 12.4 ml, and 39% had intraventricular hemorrhage. The most common ICH location was thalamus (56%) and putamen (20%). Among ICH patients, those with past history of hypertension (88%) had larger ICH volume (13.7 ml vs 3.6 ml) and worse functional outcome at discharge (modified Rankin scale, mRS, 3.5 vs 1.0). While in 41 IS events, subcortical white matter was the most common location (49%), and small vessel occlusion type was the predominant pattern (68%). Patients with ICH had significantly higher stroke severity (mean NIHSS score, 14.0 vs 4.4, P<0.01), worse function outcome at discharge (mRS 3.3 vs 2.1, P=0.02), and higher mortality rate (28% vs 2.4% P<0.01) then IS. Higher age (OR 1.11, 95% CI 1.02 - 1.21) and NIHSS score at admission (OR 1.44, 1.12 - 1.83) were predictors of poor function outcome (mRS >2) at discharge. Of 47 patients with available follow-up information, 22 (47%) of them had at least one recurrent stroke, and the recurrent events can be either ICH or IS in spite of the first stroke type.

Conclusions: We found a high proportion of ICH among CADASIL patients with acute stroke events, and those with ICH had significant worse outcome than IS counterpart.

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