TY - JOUR
T1 - Intracranial Aneurysms in Loeys-Dietz Syndrome
T2 - A Multicenter Propensity-Matched Analysis
AU - Perez-Vega, Carlos
AU - Domingo, Ricardo A.
AU - Tripathi, Shashwat
AU - Ramos-Fresnedo, Andres
AU - Martínez Santos, Jaime L.
AU - Rahme, Rudy J.
AU - Freeman, William D.
AU - Sandhu, Sukhwinder S.
AU - Miller, David A.
AU - Bendok, Bernard R.
AU - Brinjikji, Waleed
AU - Quinones-Hinojosa, Alfredo
AU - Meyer, Fredric B.
AU - Tawk, Rabih G.
AU - Fox, W. Christopher
N1 - Publisher Copyright:
© 2022 Congress of Neurological Surgeons. All rights reserved.
PY - 2022/10/1
Y1 - 2022/10/1
N2 - BACKGROUND: Loeys-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. OBJECTIVE: To analyze the prevalence and rupture risk of IA in LDS. METHODS: Electronic 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. RESULTS: Records 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. CONCLUSION: Patients 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.
AB - BACKGROUND: Loeys-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. OBJECTIVE: To analyze the prevalence and rupture risk of IA in LDS. METHODS: Electronic 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. RESULTS: Records 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. CONCLUSION: Patients 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.
KW - Angiography
KW - Intracranial aneurysm
KW - Loeys-Dietz
KW - MRA
KW - Stroke
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U2 - 10.1227/neu.0000000000002070
DO - 10.1227/neu.0000000000002070
M3 - Article
C2 - 35876667
AN - SCOPUS:85138447905
SN - 0148-396X
VL - 91
SP - 541
EP - 546
JO - Neurosurgery
JF - Neurosurgery
IS - 4
ER -