ArticleAJNR. American journal of neuroradiology2020
Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis.
Article in AJNR. American journal of neuroradiology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Neurovascular complications in Loeys-Dietz syndrome: a comprehensive systematic review and case report.Acta neurologica Belgica · 2026Pooled it
- Prevalence of unruptured intracranial aneurysms in patients with Marfan syndrome: A cross-sectional study and meta-analysis.European stroke journal · 2023Pooled it
- Spontaneous Vertebral Artery Dissection as the Heralding Manifestation of Previously Undiagnosed Marfan Syndrome in a Young Adult with Posterior Circulation Stroke: A Case Report.Reports (MDPI) · 2026Article
- Diagnosis and Management of Loeys-Dietz Syndrome: Evidence Gaps and Future Directions.Current cardiology reports · 2026Review
- Computer-aided assessment of intracranial arterial tortuosity as a predictor of aneurysm occurrence and instability.Neuroradiology · 2026Article
- Combined Pipeline Embolization and Coiling of an Intracranial Aneurysm in Marfan Syndrome: A Case Report and Literature Review.Neurosurgery practice · 2025Article
- Marfan syndrome cardiomyocytes show excess of titin isoform N2BA and extended sarcomeric M-band.The Journal of general physiology · 2025Article
- Growth Rate Assessed by Vascular Deformation Mapping Predicts Type B Aortic Dissection in Marfan Syndrome.Journal of the American Heart Association · 2025Article
- Apoptosis and Brain Dervived Neurotrophic Factor are increased in cortical neurons of Marfan Syndrome mice.microPublication biology · 2025Article
- Neurological abnormalities in individuals with Marfan syndrome: results from a genetically confirmed Italian cohort.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Growth Rate Assessed by Vascular Deformation Mapping predicts Type B Aortic Dissection in Marfan Syndrome.medRxiv : the preprint server for health sciences · 2024Article
- Quantitative measurement of dural ectasia: associations with clinical and genetic characteristics in Marfan syndrome.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2024Article
- Successful surgical management of a superior cerebellar artery aneurysm in a patient with Marfan syndrome: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Carotid Dolichoarteriopathy (Elongation) of the Carotid Arteries in Patients with Ischemic Stroke Anamnesis.Biomedicines · 2023Article
- The Vertebral Artery: A Systematic Review and a Meta-Analysis of the Current Literature.Diagnostics (Basel, Switzerland) · 2023Review
- The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases.Diagnostics (Basel, Switzerland) · 2023Review
- Effect of Blood Transfusion on Cerebral Hemodynamics and Vascular Topology Described by Computational Fluid Dynamics in Sickle Cell Disease Patients.Brain sciences · 2022Article
- Loeys-Dietz syndrome: Case report and review of the literature.Radiology case reports · 2022Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeThe association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined the intracranial vasculature. The aim of this study was to evaluate the degree of intracranial arterial tortuosity in patients with Marfan syndrome and those with Loeys-Dietz syndrome, and to assess its usefulness in the differential diagnosis. MATERIALS AND
methodsWe performed a retrospective analysis of 68 patients with genetically confirmed Marfan syndrome (
resultsBoth Marfan syndrome and Loeys-Dietz syndrome showed a significantly higher tortuosity index compared with controls in all examined vessels. The tortuosity index of the vertebrobasilar system showed an excellent interrater reliability (intraclass correlation coefficient, 0.99) and was the strongest independent predictor of Loeys-Dietz syndrome in patients with connective tissue disease (
conclusionsThe tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.
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