Article Figures & Data
Figures
- Fig 1.
Imaging findings in Marfan syndrome. A, A 25-year-old man with Marfan syndrome with a 4-mm periophthalmic aneurysm of the right ICA. B, 3D reconstruction of a CTA performed for evaluation of acute ischemic stroke and headache in a patient with Marfan syndrome demonstrates smooth tapering of the right MCA, consistent with an acute dissection (arrow).
- Fig 2.
Imaging findings in Ehlers-Danlos syndrome. A, DSA of a cervical carotid dissecting pseudoaneurysm (white arrow) in a patient with Ehlers-Danlos syndrome. Note the coil mass in the supraclinoid ICA from previous coiling of an ICA aneurysm. B, A giant cavernous carotid artery aneurysm in a patient with Ehlers-Danlos syndrome.
- Fig 3.
Imaging findings in neurofibromatosis type 1. A, Fusiform aneurysm of the right anterior inferior cerebellar artery in a 22-year-old patient with NF1. B, The same patient had a giant right MCA aneurysm and a third fusiform aneurysm of an M2 branch.
- Fig 4.
Aneurysms in Loeys-Dietz syndrome. A, A 3-mm A1 aneurysm (arrow). B, A 6-mm supraclinoid ICA aneurysm in a patient with Loeys-Dietz syndrome.
Tables
- Table 1:
Summary of all data collected for patients with connective tissue diseases who underwent MRA, CTA, or DSA imaging of the head
Marfan Ehlers-Danlos NF1 Loeys-Dietz No. of patients 59 99 47 25 Mean age (yr) 49.4 41.7 38.3 36.5 No. (%) female 29 (49%) 81 (82%) 23 (49%) 13 (52%) Cerebral imaging modality CTA, No. (%) 16 (27%) 24 (24%) 4 (9%) 9 (36%) MRA, No. (%) 53 (90%) 85 (86%) 44 (94%) 22 (88%) DSA, No. (%) 1 (2%) 2 (2%) 9 (19%) 0 (0%) No. (%) intracranial aneurysms 8 (14%) 12 (12%) 5 (11%) 7 (28%) No. (%) multiple intracranial aneurysms 2 (3%) 2 (2%) 1 (2%) 1 (4%) Total No. of aneurysms 12 14 7 8 Location, No. (%): ICA 9 (15%) 12 (12%) 3 (6%) 5 (20%) MCA 0 (0%) 1 (1%) 2 (4%) 0 (0%) ACA 0 (0%) 0 (0%) 0 (0%) 1 (4%) AcomA 1 (2%) 1 (1%) 1 (2%) 0 (0%) PCA 2 (3%) 0 (0%) 0 (0%) 0 (0%) Basilar 0 (0%) 0 (0%) 0 (0%) 0 (0%) Vertebral 0 (0%) 0 (0%) 1 (2%) 2 (8%) Other 0 (0%) 0 (0%) 0 (0%) 0 (0%) Mean (SD) aneurysm size (mm) 4.4 (7.4) 6.9 (6.5) 11.2 (9.8) 4.8 (4.5) Other intracranial vascular findings, No. (%) AVM 0 (0%) 0 (0%) 0 (0%) 0 (0%) AVF 1 (2%) 2 (2%) 0 (0%) 0 (0%) Dissection 2 (3%) 1 (1%) 0 (0%) 0 (0%) Intracranial hemorrhage, No. (%) 0 (0%) 2 (2%) 2 (4%) 1 (4%) Comorbidities, No. (%) Hypertension 21 (36%) 24 (24%) 15 (32%) 7 (28%) Hyperlipidemia 24 (41%) 15 (15%) 9 (19%) 5 (20%) Diabetes mellitus 4 (7%) 3 (3%) 2 (4%) 1 (4%) Smoking 23 (39%) 32 (32%) 14 (30%) 11 (44%) Stroke 10 (17%) 7 (7%) 9 (19%) 2 (8%) Coronary artery disease 8 (14%) 5 (5%) 3 (6%) 2 (8%) Note:—ACA indicates anterior cerebral artery; AcomA, anterior communicating artery; PCA, posterior cerebral artery.
- Table 2:
Symptomatic status at presentation of patients with confirmed intracranial aneurysms
Marfan Ehlers-Danlos NF1 Loeys-Dietz No. with intracranial aneurysms 8 12 5 7 Symptomatic status, No. (%) Asymptomatic/incidental 3 (38%) 7 (58%) 2 (40%) 7 (100%) Headache 3 (38%) 4 (33%) 2 (40%) 0 (0%) Aneurysm rupture/SAH 0 (0%) 0 (0%) 3 (60%) 0 (0%) Cranial nerve palsy 4 (50%) 3 (25%) 0 (0%) 0 (0%) Clinical Manifestations Associated Genes Gene Product Marfan Marfanoid habitus FBN1 Fibrillin-1 Aortic root diseases Ectopic lentis Dural ectasia Ehlers-Danlos Joint hypermobility COL5A1 Type V collagen Skin hyperextensibility COL5A2 Type III collagen Abnormal wound healing COL3A1 Mitral valve prolapse NF1 Café-au-lait macules NF1 Neurofibromin Lisch nodules Neurofibromas Osteoporosis Loeys-Dietz Aortic aneurysms TGFBR1 Transforming growth factor β receptor I Generalized arterial tortuosity TGFBR2 Transforming growth factor β receptor II Hypertelorism TGFB2 Transforming growth factor β Bifid/broad uvula or cleft palate
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