Clinical, Imaging, and Laboratory Findings in Patients With GATA2 Deficiency Presenting With Early-Onset Ischemic Stroke

Abstract

ObjectiveThe purpose of this study was to characterize the clinical, laboratory, and imaging findings of 10 patients with GATA2 deficiency who presented with early-onset ischemic stroke.MethodsA retrospective chart review was conducted on a 127-patient cohort enrolled in theNatural History Study of GATA2 Deficiency and Related Disordersprotocol at NIH between 2013 and 2021. All patients had a genetically confirmed GATA2 deficiency. Patients were included if they had evidence of an ischemic stroke through clinical evaluation and neuroimaging. Stroke diagnosis was confirmed through brain magnetic resonance imaging and/or CT.ResultsTen patients between the ages of 15 and 38 years (4 males and 6 females) were identified with at least one ischemic stroke while 6 patients experienced recurrent strokes (7.9% overall, 10/127). Stroke etiology varied and included small vessel (n = 4), large vessel (n = 1), cardioembolic (n = 1), and undetermined (n = 4). Nine patients had lupus anticoagulant, and 2 patients had a history of recurrent deep vein thrombosis.DiscussionWe describe the clinical, laboratory, and imaging findings of 10 patients with GATA2 deficiency younger than 40 years who suffered one or more ischemic strokes , suggesting a link between GATA2 deficiency and stroke. This report emphasizes the need for further research to understand this unique vulnerability within this patient population.