Neurovascular findings in children and young adults with Loeys-Dietz syndromes: Informing recommendations for screening

LoPresti, Melissa A.; Ghali, Michael Z.; Srinivasan, Visish M.; Morris, Shaine A.; Kralik, Stephen F.; Chiou, Kevin; Du, Rebecca Y.; Lam, Sandi

doi:10.1016/j.jns.2019.116633

Cited by 7 publications

(32 citation statements)

References 16 publications

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“…The overall prevalence of arterial tortuosity is also likely under reported. In series that only included participants with neuroimaging, arterial tortuosity was observed in 80-100% of patients depending on the vascular territory examined (41)(42)(43)(44).…”

Section: Cardiovascular Involvementmentioning

confidence: 99%

Clinical features and complications of Loeys-Dietz syndrome: A systematic review

Gouda

Kay

Habib

et al. 2022

International Journal of Cardiology

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Section: Cardiovascular Involvementmentioning

confidence: 99%

Clinical features and complications of Loeys-Dietz syndrome: A systematic review

Gouda

Kay

Habib

et al. 2022

International Journal of Cardiology

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“…It is possible that MRI/MR angiography of the spine is more frequently ordered to evaluate connective tissue and vascular pathology. [ 17 ] Nevertheless, plain radiographs, and especially flexion/extension radiographs, are an important modality for assessing cervical ligamentous instability. The optimal screening protocol likely involves a combination of multiple imaging modalities to identify different pathologies.…”

Section: Discussionmentioning

confidence: 99%

“…To encourage a standardized approach to universal screening, we support a coordinated care team, multidisciplinary approach, and early consultation with a spine surgeon should cervical abnormalities be identified. [ 17 ] Furthermore, in light of various spinal and neurovascular diseases associated with an LDS diagnosis, we postulate that initial consultation with a neurosurgeon, with expertise in treating LDS, at time of diagnosis may be helpful in following screening and surveillance imaging, interpreting relevant findings, guiding management, and discussing lifetime risk with patients and families. Alternatively, consultation with an orthopedic spine surgeon can also help guide management of cervical spinal pathologies and thoracolumbar scoliosis in this group.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome

Prablek

LoPresti

Bertot

et al. 2022

Surgical Neurology International

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Background: Loeys-Dietz syndrome (LDS) is a genetic connective tissue disorder associated with multiple musculoskeletal anomalies, including cervical spine instability. We sought to examine the nature of imaging for cervical spine instability in children with LDS due to likely pathogenic or pathogenic variants in TGFBR1, TGFBR2, TGFB2, SMAD3, or TGFB3. Methods: A retrospective chart review was conducted, examining relevant data for all children with LDS screened at our institution from 2004 through 2021. Cervical spine X-rays were used to assess cervical instability, cervical lordosis, and basilar impression. Results: A total of 39 patients were identified; 16 underwent cervical spine screening (56.25% male). Median age at initial screening was 7 years (Q1-Q3: 3.75–14, range: 0.1–19). Six of 16 patients evaluated (37.5%) had radiographical evidence of cervical instability. Mean angles of cervical lordosis were 20° (SD = 14.1°, range = 4°–33°) and 17.3° (SD = 16.4°, range = 2°–41°), respectively. Three patients demonstrated radiographical basilar impression. Radiographic progression of cervical instability was seen in one case. All but two were managed conservatively with observation, one patient underwent surgical fixation and fusion of C1-2, the other underwent complex cervical reconstruction anterior and posterior instrumentation. Conclusion: Cervical spine evaluation is important in this cohort; we identified 37.5% had evidence of cervical spine instability, and many had concurrent spinal pathology. From our experience, we agree with the recent advisement for screening at diagnosis and for those previously diagnosed that have not undergone screening. Future study may outline more specific screening practices.

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“…The prevalence of IA in LDS has been reported to range between 7.7% and 28%, with the largest cohort to date with cerebrovascular imaging (MR angiography [MRA], computed tomography angiography [CTA], or angiography) consisting of only 39 patients. [8][9][10][11][12] Several centers around the world perform regular imaging studies for cerebrovascular surveillance although the risk of aneurysm rupture in LDS remains elusive. 11 In this article, we present a multicenter study evaluating the prevalence and characteristics of IA in patients with LDS, with investigation of potential risk factors for aneurysm formation.…”

mentioning

confidence: 99%

mentioning

confidence: 99%

Intracranial Aneurysms in Loeys–Dietz Syndrome: A Multicenter Propensity-Matched Analysis

et al. 2022

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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.

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Neurovascular findings in children and young adults with Loeys-Dietz syndromes: Informing recommendations for screening

Cited by 7 publications

References 16 publications

Clinical features and complications of Loeys-Dietz syndrome: A systematic review

Clinical features and complications of Loeys-Dietz syndrome: A systematic review

Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome

Intracranial Aneurysms in Loeys–Dietz Syndrome: A Multicenter Propensity-Matched Analysis

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