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Tortuous cerebral arteries

MedGen UID:
373178
Concept ID:
C1836791
Finding
Synonym: Twisted cerebral arteries
 
HPO: HP:0004938

Definition

Excessive bending, twisting, and winding of a cerebral artery. [from HPO]

Conditions with this feature

Cerebral amyloid angiopathy, APP-related
MedGen UID:
414044
Concept ID:
C2751536
Disease or Syndrome
Cerebral amyloid angiopathy, or cerebroarterial amyloidosis, refers to a pathologic process in which amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions, and progressive dementia. APP-related CAA is the most common form of CAA (Revesz et al., 2003, 2009).
Aneurysm-osteoarthritis syndrome
MedGen UID:
462437
Concept ID:
C3151087
Disease or Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections), skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus, cervical spine malformation and/or instability), craniofacial features (widely spaced eyes, strabismus, bifid uvula / cleft palate, and craniosynostosis that can involve any sutures), and cutaneous findings (velvety and translucent skin, easy bruising, and dystrophic scars). Individuals with LDS are predisposed to widespread and aggressive arterial aneurysms and pregnancy-related complications including uterine rupture and death. Individuals with LDS can show a strong predisposition for allergic/inflammatory disease including asthma, eczema, and reactions to food or environmental allergens. There is also an increased incidence of gastrointestinal inflammation including eosinophilic esophagitis and gastritis or inflammatory bowel disease. Wide variation in the distribution and severity of clinical features can be seen in individuals with LDS, even among affected individuals within a family who have the same pathogenic variant.
Cutis laxa, autosomal dominant 3
MedGen UID:
899774
Concept ID:
C4225268
Disease or Syndrome
Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (123700).
Fibromuscular dysplasia, multifocal
MedGen UID:
1778238
Concept ID:
C5543412
Disease or Syndrome
Multifocal fibromuscular dysplasia (FMDMF) is characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Arterial tortuosity, macroaneurysms, dissections, and rupture may occur (summary by Richer et al., 2020).
VISS syndrome
MedGen UID:
1794165
Concept ID:
C5561955
Disease or Syndrome
VISS syndrome is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay (Van Gucht et al., 2021). Immune dysregulation has been observed in some patients (Ziegler et al., 2021).

Professional guidelines

PubMed

Bae JW, Oh HS, Hong CE, Kim KM, Yoo DH, Kang HS, Cho YD
Clin Neuroradiol 2023 Sep;33(3):653-659. Epub 2023 Jan 3 doi: 10.1007/s00062-022-01252-0. PMID: 36595022
Zhu Y, Zhang H, Zhang Y, Wu H, Wei L, Zhou G, Zhang Y, Deng L, Cheng Y, Li M, Santos HA, Cui W
Adv Mater 2019 Feb;31(8):e1805452. Epub 2018 Dec 27 doi: 10.1002/adma.201805452. PMID: 30589125
Tsui YK, Tsai FY, Hasso AN, Greensite F, Nguyen BV
J Neurol Sci 2009 Dec 15;287(1-2):7-16. Epub 2009 Sep 20 doi: 10.1016/j.jns.2009.08.064. PMID: 19772973

Recent clinical studies

Etiology

Park KY, Kim JW, Kim BM, Kim DJ, Chung J, Jang CK, Kim JH
Korean J Radiol 2019 Aug;20(8):1285-1292. doi: 10.3348/kjr.2019.0127. PMID: 31339016Free PMC Article
Zhu Y, Zhang H, Zhang Y, Wu H, Wei L, Zhou G, Zhang Y, Deng L, Cheng Y, Li M, Santos HA, Cui W
Adv Mater 2019 Feb;31(8):e1805452. Epub 2018 Dec 27 doi: 10.1002/adma.201805452. PMID: 30589125
Kim BJ, Lee SH, Kwun BD, Kang HG, Hong KS, Kang DW, Kim JS, Kwon SU
World Neurosurg 2018 Apr;112:e876-e880. Epub 2018 Feb 7 doi: 10.1016/j.wneu.2018.01.196. PMID: 29425982
Brinjikji W, Cloft HJ, Flemming KD, Comelli S, Lanzino G
J Neurosurg 2018 Jul;129(1):91-99. Epub 2017 Sep 29 doi: 10.3171/2017.2.JNS1744. PMID: 28960150
Fukui M, Kono S, Sueishi K, Ikezaki K
Neuropathology 2000 Sep;20 Suppl:S61-4. doi: 10.1046/j.1440-1789.2000.00300.x. PMID: 11037190

Diagnosis

Roest C, Kloet RW, Lamers MJ, Yakar D, Kwee TC
Eur Radiol 2023 Dec;33(12):9099-9108. Epub 2023 Jul 12 doi: 10.1007/s00330-023-09904-6. PMID: 37438639Free PMC Article
Brinjikji W, Cloft HJ, Flemming KD, Comelli S, Lanzino G
J Neurosurg 2018 Jul;129(1):91-99. Epub 2017 Sep 29 doi: 10.3171/2017.2.JNS1744. PMID: 28960150
Hassanein SM, Abbas YA, Monib AM, El Alfy MS
Dev Neurorehabil 2011;14(5):323-9. doi: 10.3109/17518423.2011.593574. PMID: 21870957
Tsui YK, Tsai FY, Hasso AN, Greensite F, Nguyen BV
J Neurol Sci 2009 Dec 15;287(1-2):7-16. Epub 2009 Sep 20 doi: 10.1016/j.jns.2009.08.064. PMID: 19772973
Burke GM, Burke AM, Sherma AK, Hurley MC, Batjer HH, Bendok BR
Neurosurg Focus 2009 Apr;26(4):E11. doi: 10.3171/2009.1.FOCUS08310. PMID: 19335127

Therapy

Yao L, Huang J, Liu H, Hou W, Tang M
Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Feb 28;46(2):200-206. doi: 10.11817/j.issn.1672-7347.2021.190673. PMID: 33678659
Amidzic A, Tiro N
Med Arch 2020 Feb;74(1):58-60. doi: 10.5455/medarh.2020.74.58-60. PMID: 32317837Free PMC Article
Park KY, Kim JW, Kim BM, Kim DJ, Chung J, Jang CK, Kim JH
Korean J Radiol 2019 Aug;20(8):1285-1292. doi: 10.3348/kjr.2019.0127. PMID: 31339016Free PMC Article
Morinaga Y, Nii K, Sakamoto K, Inoue R, Mitsutake T, Hanada H
World Neurosurg 2019 Jun;126:146-150. Epub 2019 Mar 9 doi: 10.1016/j.wneu.2019.02.153. PMID: 30858000
Linfante I, Wakhloo AK
Stroke 2007 Apr;38(4):1411-7. Epub 2007 Feb 22 doi: 10.1161/01.STR.0000259824.10732.bb. PMID: 17322071

Prognosis

Montes-Ramirez J, Gomez-Brockmann P, Carrillo-Mezo R, Flores-Silva F, Cantu-Brito C
Br J Neurosurg 2020 Oct;34(5):524-527. Epub 2019 Mar 4 doi: 10.1080/02688697.2019.1567682. PMID: 30829073
Benet A, Tabani H, Ding X, Burkhardt JK, Rodriguez Rubio R, Tayebi Meybodi A, Nisson P, Kola O, Gandhi S, Yousef S, Lawton MT
J Neurosurg 2018 Jan 26;130(1):207-212. doi: 10.3171/2017.6.JNS17518. PMID: 29372878
Maga P, Tomaszewski KA, Pasternak A, Zawiliński J, Tomaszewska R, Gregorczyk-Maga I, Skrzat J
Folia Morphol (Warsz) 2013 May;72(2):94-9. doi: 10.5603/fm.2013.0016. PMID: 23740494
Fukui M, Kono S, Sueishi K, Ikezaki K
Neuropathology 2000 Sep;20 Suppl:S61-4. doi: 10.1046/j.1440-1789.2000.00300.x. PMID: 11037190
Sloan MA, Burch CM, Wozniak MA, Rothman MI, Rigamonti D, Permutt T, Numaguchi Y
Stroke 1994 Nov;25(11):2187-97. doi: 10.1161/01.str.25.11.2187. PMID: 7974544

Clinical prediction guides

Roest C, Kloet RW, Lamers MJ, Yakar D, Kwee TC
Eur Radiol 2023 Dec;33(12):9099-9108. Epub 2023 Jul 12 doi: 10.1007/s00330-023-09904-6. PMID: 37438639Free PMC Article
Krzyżewski RM, Kliś KM, Kwinta BM, Łasocha B, Brzegowy P, Popiela TJ, Gąsowski J
World Neurosurg 2022 Oct;166:e84-e92. Epub 2022 Jul 8 doi: 10.1016/j.wneu.2022.06.101. PMID: 35811029
Krzyżewski RM, Kliś KM, Kwinta BM, Gackowska M, Stachura K, Starowicz-Filip A, Thompson A, Gąsowski J
World Neurosurg 2019 Feb;122:e480-e486. Epub 2018 Oct 23 doi: 10.1016/j.wneu.2018.10.086. PMID: 30366144
Lan J, Fu ZY, Zhang JJ, Ma C, Cao CJ, Zhao WY, Jiang PC, Chen JC
World Neurosurg 2018 Sep;117:109-114. Epub 2018 Jun 8 doi: 10.1016/j.wneu.2018.05.247. PMID: 29890279
Burke GM, Burke AM, Sherma AK, Hurley MC, Batjer HH, Bendok BR
Neurosurg Focus 2009 Apr;26(4):E11. doi: 10.3171/2009.1.FOCUS08310. PMID: 19335127

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