Vasculopathy in Neurofibromatosis Type 1

HomeRadiologyVol. 306, No. 1 PreviousNext Reviews and CommentaryFree AccessImages in RadiologyVasculopathy in Neurofibromatosis Type 1Azadehsadat Esfahani, Ayaz Aghayev Azadehsadat Esfahani, Ayaz Aghayev Author AffiliationsFrom the Cardiovascular Imaging Program, Department of Radiology, Brigham and Women's Hospital and Harvard Medical School, 75 Francis St, Boston, MA 02115.Address correspondence to A.A. (email: [email protected]).Azadehsadat EsfahaniAyaz Aghayev Published Online:Sep 27 2022https://doi.org/10.1148/radiol.220924MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked In Online supplemental material is available for this article.A 42-year-old man with a past medical history of neurofibromatosis type 1 (NF-1) was referred for follow-up CT angiography for prior vasculopathies. The disease initially manifested with hypertension (right renal artery stenosis), scoliosis, multiple craniofacial anomalies, multiple congenital epidermal nevi, and neurofibromas with spinal cord compression. Several vascular interventions were performed to place a stent in the stenotic arterial segments or exclude the aneurysms. CT angiogram showed a tortuous, small-caliber thoracoabdominal aorta, multifocal ectasia, and saccular aneurysms (Figure, Movie 1 [online]). Multiple sof-tissue masses along the spine and surrounding the upper abdominal vessels represent neurofibromas (Movie 2 [online]).A volume-rendered image in a 42-year-old man who presented for a follow-up CT angiography examination for vasculopathy from neurofibromatosis type 1. CT angiogram of the thoracoabdominal aorta shows tortuous thoracic aorta, multiple stenotic segments (straight arrows), saccular aneurysmal dilations (*), and descending thoracic aorta with a stent due to luminal narrowing (curved arrow).Download as PowerPointOpen in Image Viewer Get the Flash Player to see this video.Movie 1: 42-year-old male who presented for a follow-up CTA imaging for vasculopathy from neurofibromatosis (NF-1). Movie file of the volume-rendered CTA shown in the Figure.Download Original Video (6.0 MB)Get the Flash Player to see this video.Movie 2: 42-year-old male who presented for a follow-up CTA imaging for vasculopathy from neurofibromatosis (NF-1). Movie file of the original axial CTA examination showing the multiple paraspinal neurofibromas and the aortopathy.Download Original Video (7.7 MB)Vasculopathy is an important manifestation of NF-1 as the cause of morbidity and mortality in children and young adults afflicted with the disease. Occlusive or aneurysmal disease of arteries of all sizes may occur almost anywhere in the body. Segmental hypoplasia of the abdominal aorta with or without renal artery ostial stenosis is a common cause of renovascular hypertension (1,2). Visceral vasculopathy may cause ischemic bowel disease. Catastrophic retroperitoneal or abdominal hemorrhage has been attributed to spontaneously ruptured arterial aneurysms in this disorder (1).Disclosures of conflicts of interest: A.E. No relevant relationships. A.A. No relevant relationships.References1. Lie JT. Vasculopathies of Neurofibromatosis Type 1 (von Recklinghausen Disease). Cardiovasc Pathol 1998;7(2):97–108. Crossref, Medline, Google Scholar2. Oderich GS, Sullivan TM, Bower TC, et al. Vascular abnormalities in patients with neurofibromatosis syndrome type I: clinical spectrum, management, and results. J Vasc Surg 2007;46(3):475–484. Crossref, Medline, Google ScholarArticle HistoryReceived: Apr 14 2022Revision requested: May 3 2022Revision received: May 5 2022Accepted: May 23 2022Published online: Sept 27 2022Published in print: Jan 2023 FiguresReferencesRelatedDetailsRecommended Articles Radiologic Assessment of Native Renal Vasculature: A Multimodality ReviewRadioGraphics2017Volume: 37Issue: 1pp. 136-156A Large-Vessel Arteritis in SARS-CoV-2–related Multisystem Inflammatory Syndrome in ChildrenRadiology: Cardiothoracic Imaging2021Volume: 3Issue: 1Cardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging FindingsRadioGraphics2018Volume: 38Issue: 1pp. 275-286Chest CT Angiography for Acute Aortic Pathologic Conditions: Pearls and PitfallsRadioGraphics2021Volume: 41Issue: 2pp. 399-424Thoracic Endovascular Aortic Repair for Chronic Type B Aortic Dissection: Pre- and Postprocedural ImagingRadioGraphics2022Volume: 42Issue: 6pp. 1638-1653See More RSNA Education Exhibits MidAortic Syndrome: Pathophysiology, Hereditary Syndromes and Imaging Features including 3D Cinematic RenderingDigital Posters2020FEVAR and BEVAR- Indications, Devices, Procedures and ComplicationsDigital Posters2020Aortic Calcifications As and Index to Disease: Spectrum of Pathologies & Imaging Findings in Various Conditions Causing Aortic CalcificationsDigital Posters2020 RSNA Case Collection Takayasu arteritisRSNA Case Collection2022Middle aortic syndromeRSNA Case Collection2020Takayasu ArteritisRSNA Case Collection2020 Vol. 306, No. 1 Metrics Altmetric Score PDF download