ArticleJournal of the neurological sciences2020
Neurovascular findings in children and young adults with Loeys-Dietz syndromes: Informing recommendations for screening.
Article in Journal of the neurological sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 10 citations in OpenAlex.
- Staged surgical management of multiple arterial aneurysms in aneurysms osteoarthritis syndrome with a novel SMAD3 mutation.Journal of vascular surgery cases and innovative techniques · 2026Article
- Carotid Dolichoarteriopathy (Elongation) of the Carotid Arteries in Patients with Ischemic Stroke Anamnesis.Biomedicines · 2023Article
- Evaluation of cervical spine pathology in children with Loeys-Dietz syndrome.Surgical neurology international · 2022Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
introductionLoeys-Dietz Syndromes (LDS) are a group of connective tissue disorders associated with vascular abnormalities, including arterial tortuosity, aneurysms, and dissections. While neurovascular involvement is common, no pediatric or young adult recommendations for screening exist. We aimed to review our institution's experience with special focus on neurovascular imaging to better understand the pathology and guide screening.
methodsA retrospective cohort study of patients with LDS was performed. Demographics, genetic subtype, clinical and radiographical data were analyzed. Primary outcome measures included pathology on neurovascular imaging, time to progression, and arterial tortuosity indexes for bilateral cervical internal carotid arteries (ICA) and vertebral arteries (VA).
resultsOf 47 patients with LDS identified, 39 (83.0%) were found to have neuroimaging. Intracranial and cervical vascular tortuosity were seen in 79.5% and 64.1%, respectively. Twenty-one patients (44.7%) received follow-up screening, of which 3 were found to have progression. Time to progression was an average of 2.1 years. Average follow-up was 607 days (range 123-3070 days). Mean Arterial Tortuosity Index for the right ICA, left ICA, right VA, and left VA were 18, 20, 49, and 47, respectively. Comparison of interval percent change in Arterial Tortuosity Index over the course of follow-up demonstrated small changes in the right ICA (mean 5%), left ICA (mean 1%), right VA (mean 1%), and left VA (mean 2%).
conclusionsArterial tortuosity was most prevalent, though it did not progress significantly over time. We suggest an algorithm for management and serial screening to guide management of pediatric and young adults with LDS.
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