• Carlos Perez-Vega, Ricardo A Domingo, Shashwat Tripathi, Andres Ramos-Fresnedo, Jaime L Martínez Santos, Rudy J Rahme, William D Freeman, Sukhwinder S Sandhu, David A Miller, Bernard R Bendok, Waleed Brinjikji, Alfredo Quinones-Hinojosa, Fredric B Meyer, Rabih G Tawk, and W Christopher Fox.
• Department of Neurologic Surgery, Mayo Clinic, Jacksonville, Florida, USA.
• Neurosurgery. 2022 Oct 1; 91 (4): 541546541-546.

BackgroundLoeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder characterized by a classic triad of hypertelorism, bifid uvula and/or cleft palate, and generalized arterial tortuosity. There are limited data on the prevalence and rupture risk of intracranial aneurysms (IAs) in the setting of LDS, with no established guidelines.ObjectiveTo analyze the prevalence and rupture risk of IA in LDS.MethodsElectronic medical records of patients with a confirmed diagnosis of LDS and available cerebrovascular imaging were reviewed. Patients were divided into 2 groups based on the presence of IA. Unmatched and propensity-matched analyses were used to identify potential risk factors for aneurysm formation.ResultsRecords of 1111 patients were screened yielding a total of 60 patients with a diagnosis of LDS. Eighteen (30%) patients had IA, 4 (22.2%) of whom had multiple aneurysms for a total of 24 IAs. Twenty-three (95.8%) aneurysms were located in the anterior circulation; none of them were ruptured. On unmatched analysis, age ( P = .015), smoking history ( P = .034), hypertension ( P = .035), and number of extracranial aneurysms ( P < .001) were significantly higher in patients with IA. After matching for age, sex, race, stroke history, family history, and extracranial aneurysms, smoking history ( P = .009) remained significant.ConclusionPatients with LDS have an increased risk of IAs, especially with a history of smoking. The prevalence rate of IAs in our series was 30%. Screening imaging should be considered at diagnosis, and patients should be encouraged to abstain from smoking. Further studies are needed to elucidate the risk of IA rupture and treatment considerations in this unique population.Copyright © Congress of Neurological Surgeons 2022. All rights reserved.

22 keywords...

hide…