Abstract
Purpose
To describe the association between two aortic arch branch variants and its possible relationship with neurofibromatosis-1.
Methods
A 5-year-old female with NF-1 diagnosis presented to the emergency department at 2 months of age with irritability, vomiting and left gaze deviation. Brain MRI showed a left side acute hemispheric stroke and left internal carotid occlusion.
Results
CT angiography of the neck showed the right and left common carotid arteries arising from a common vascular trunk coming from the aortic arch and a right retroesophageal subclavian artery.
Conclusion
Although the relationship between NF-1 mutation and aortic arch branch abnormalities has not been described, there is a recognized condition known as neurofibromatosis/Noonan syndrome which is an accepted variant of NF-1 with clinical features of both NF-1 and Noonan syndrome caused by dysregulation of the RAS–MAPK pathway. Aortic arch branch variations in patients with NF-1 could be explained by this association.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
Data availability
Not applicable.
Code availability
Not applicable.
References
Bekiesińska-Figatowska M, Bragoszewska H, Duczkowski M, Romaniuk-Doroszewska A, Szkudlińska-Pawlak S, Duczkowska A, Madzik J, Kowalska B, Pȩczkowski P (2014) Circle of Willis abnormalities in children with neurofibromatosis type 1. Neurol Neurochir Pol. https://doi.org/10.1016/j.pjnns.2013.05.002
Buffoli B, Verzeletti V, Hirtler L, Rezzani R, Rodella LF (2021) Retroesophageal right subclavian artery associated with a bicarotid trunk and an ectopic origin of vertebral arteries. Surg Radiol Ana. https://doi.org/10.1007/s00276-021-02746-1
Ekvall S, Sjörs K, Jonzon A, Vihinen M, Annerén G, Bondeson ML (2014) Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome. Am J Med Genet A. https://doi.org/10.1002/ajmg.a.36313
Elsaid N, Bigliardi G, Dell’Acqua ML, Vandelli L, Ciolli L, Picchetto L, Borzì G, Ricceri R, Pentore R, Vallone S, Meletti S, Saied A (2020) the relation between aortic arch branching types and the laterality of cardio-embolic stroke. J Stroke Cerebrovasc Dis. https://doi.org/10.1016/j.jstrokecerebrovasdis.2020.104917
Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A (2006) A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am J Med Genet A. https://doi.org/10.1002/ajmg.a.31547
Jin M, Wang N, Li X, Zhang H, Zhou J, Cong M, Niu J, Lin C, Hu Y, Wu N, Liu J, Zhang K, Qiu C (2022) Relationship between MTHFR C677T, homocysteine, and ischemic stroke in a large sample of the Han Chinese population. Medicine (United States). https://doi.org/10.1097/MD.0000000000030562
Liew SC, Gupta ED (2015) Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. Eur J Med Genet 58:1–10
Nakagawa M, Osawa Y, Hanato T, Fujino H, Watanabe N, Takeuchi Y (2005) Association of aortic arch anomalies and subclavian artery supply disruption with neurofibromatosis. Int J Cardiol. https://doi.org/10.1016/j.ijcard.2004.09.018
Natsis K, Didagelos M, Manoli SM, Papathanasiou E, Sofidis G, Anastasopoulos N (2011) A bicarotid trunk in association with an aberrant right subclavian artery. Report of two cases, clinical impact, and review of the literature. Folia Morphol (Warsz) 70:68–73
Pinzon RT, Wijaya VO, Veronica V (2023) The role of homocysteine levels as a risk factor of ischemic stroke events: a systematic review and meta-analysis. Front Neurol. https://doi.org/10.3389/fneur.2023.1144584
Rosser TL, Vezina G, Packer RJ (2005) Cerebrovascular abnormalities in a population of children with neurofibromatosis type 1. Neurology. https://doi.org/10.1212/01.WNL.0000150544.00016.69
Samadhiya S, Sardana V, Bhushan B, Maheshwari D, Yadav S, Goyal R (2022) Propensity of stroke in standard versus various aortic arch variants: a 200 patients study. Ann Indian Acad Neurol. https://doi.org/10.4103/aian.aian_710_21
Syperek A, Angermaier A, Kromrey ML, Hosten N, Kirsch M (2019) The so-called “bovine aortic arch”: a possible biomarker for embolic strokes? Neuroradiology. https://doi.org/10.1007/s00234-019-02264-3
Wang K, Zhang M, Sun J, Zhao S (2011) A right-left aortic arch pattern made up by a bicarotid trunk, a left subclavian, a left vertebral and a right retroesophageal subclavian artery. Surg Radiol Anat. https://doi.org/10.1007/s00276-011-0824-8
Wang MX, Dillman JR, Guccione J, Habiba A, Maher M, Kamel S, Panse PM, Jensen CT, Elsayes KM (2022) Neurofibromatosis from Head to toe: what the radiologist needs to know. Radiographics. https://doi.org/10.1148/rg.210235
Xu L, Liao J, Liu L, Zhao LB, Liu SD, Chen Y, Tang G, Wang J, Chen D, Liu T, Zhou T, Zhou ZH, Yang DY (2021) The relation between aortic arch branching types and the location of large vessel occlusion in cardioembolic stroke. J Clin Neurosci 89:171–176
Acknowledgements
The authors acknowledge the Department of radiology—Hospital del Pediatría J.P. Garrahan, Buenos Aires. Argentina.
Funding
Not applicable.
Author information
Authors and Affiliations
Contributions
AG: project development, manuscript writing. JIE: manuscript writing—editing. CR: manuscript writing—editing and final approval.
Corresponding author
Ethics declarations
Conflict of interest
The authors have no conflicts of interest to disclose.
Ethical approval
Ethical approval from the institutional review board was not required for this study. The article does not contain photographs or indication that could be traced back to a human participant. The patient’s mother gave a written informed consent for all testing during the clinical process, namely, for CT angiography and magnetic resonance imaging.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.
About this article
Cite this article
Guarnizo, A., Erripa, J.I. & Rugilo, C. A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke. Surg Radiol Anat 45, 1599–1602 (2023). https://doi.org/10.1007/s00276-023-03253-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00276-023-03253-1