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Arterial tortuosity

MedGen UID:
480821
Concept ID:
C3279191
Finding
Synonym: Arterial tortuosity, general
 
HPO: HP:0005116

Definition

Abnormal tortuous (i.e., twisted) form of arteries. [from HPO]

Conditions with this feature

Loeys-Dietz syndrome 2
MedGen UID:
382398
Concept ID:
C2674574
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.
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 recessive, type 1B
MedGen UID:
482428
Concept ID:
C3280798
Disease or Syndrome
EFEMP2-related cutis laxa, or autosomal recessive cutis laxa type 1B (ARCL1B), is characterized by cutis laxa and systemic involvement, most commonly arterial tortuosity, aneurysms, and stenosis; retrognathia; joint laxity; and arachnodactyly. Severity ranges from perinatal lethality as a result of cardiopulmonary failure to manifestations limited to the vascular and craniofacial systems.
Loeys-Dietz syndrome 4
MedGen UID:
766676
Concept ID:
C3553762
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.
Loeys-Dietz syndrome 1
MedGen UID:
1646567
Concept ID:
C4551955
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.
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

Zhou Q, Dong G, Zhu Q, Qiu Y, Mao L, Chen J, Zhou K, Hu A, He J
Abdom Radiol (NY) 2021 May;46(5):1922-1930. Epub 2020 Nov 7 doi: 10.1007/s00261-020-02849-0. PMID: 33159559
Spinardi L, Vornetti G, De Martino S, Golfieri R, Faccioli L, Pastore Trossello M, Graziano C, Mariucci E, Donti A
AJNR Am J Neuroradiol 2020 Oct;41(10):1916-1922. Epub 2020 Aug 20 doi: 10.3174/ajnr.A6732. PMID: 32819908Free PMC Article
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

Recent clinical studies

Etiology

Shang K, Chen X, Cheng C, Luo X, Xu S, Wang W, Liu C
Neural Plast 2022;2022:4280410. Epub 2022 Mar 24 doi: 10.1155/2022/4280410. PMID: 35369646Free PMC Article
Moon I, Jin KN, Kim HL, Suh HJ, Lim WH, Seo JB, Kim SH, Zo JH, Kim MA
Medicine (Baltimore) 2019 Aug;98(33):e16802. doi: 10.1097/MD.0000000000016802. PMID: 31415390Free PMC Article
Uehara T, Bang OY, Kim JS, Minematsu K, Sacco R
Front Neurol Neurosci 2016;40:47-57. Epub 2016 Dec 2 doi: 10.1159/000448301. PMID: 27960158
Morris SA
Curr Opin Cardiol 2015 Nov;30(6):587-93. doi: 10.1097/HCO.0000000000000218. PMID: 26398550Free PMC Article
Wenn CM, Newman DL
Australas Phys Eng Sci Med 1990 Jun;13(2):67-70. PMID: 2375702

Diagnosis

Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Ciurică S, Lopez-Sublet M, Loeys BL, Radhouani I, Natarajan N, Vikkula M, Maas AHEM, Adlam D, Persu A
Hypertension 2019 May;73(5):951-960. doi: 10.1161/HYPERTENSIONAHA.118.11647. PMID: 30852920
Schepers D, Tortora G, Morisaki H, MacCarrick G, Lindsay M, Liang D, Mehta SG, Hague J, Verhagen J, van de Laar I, Wessels M, Detisch Y, van Haelst M, Baas A, Lichtenbelt K, Braun K, van der Linde D, Roos-Hesselink J, McGillivray G, Meester J, Maystadt I, Coucke P, El-Khoury E, Parkash S, Diness B, Risom L, Scurr I, Hilhorst-Hofstee Y, Morisaki T, Richer J, Désir J, Kempers M, Rideout AL, Horne G, Bennett C, Rahikkala E, Vandeweyer G, Alaerts M, Verstraeten A, Dietz H, Van Laer L, Loeys B
Hum Mutat 2018 May;39(5):621-634. Epub 2018 Mar 6 doi: 10.1002/humu.23407. PMID: 29392890Free PMC Article
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Van Laer L, Dietz H, Loeys B
Adv Exp Med Biol 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. PMID: 24443023

Therapy

Shang K, Chen X, Cheng C, Luo X, Xu S, Wang W, Liu C
Neural Plast 2022;2022:4280410. Epub 2022 Mar 24 doi: 10.1155/2022/4280410. PMID: 35369646Free PMC Article
Boel A, Veszelyi K, Németh CE, Beyens A, Willaert A, Coucke P, Callewaert B, Margittai É
Antioxid Redox Signal 2021 Apr 10;34(11):875-889. Epub 2019 Nov 14 doi: 10.1089/ars.2019.7843. PMID: 31621376
Spinardi L, Vornetti G, De Martino S, Golfieri R, Faccioli L, Pastore Trossello M, Graziano C, Mariucci E, Donti A
AJNR Am J Neuroradiol 2020 Oct;41(10):1916-1922. Epub 2020 Aug 20 doi: 10.3174/ajnr.A6732. PMID: 32819908Free PMC Article
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B
Genet Med 2018 Oct;20(10):1236-1245. Epub 2018 Jan 11 doi: 10.1038/gim.2017.253. PMID: 29323665
Van Laer L, Dietz H, Loeys B
Adv Exp Med Biol 2014;802:95-105. doi: 10.1007/978-94-007-7893-1_7. PMID: 24443023

Prognosis

Zhang X, Hao W, Han S, Ren CF, Yang L, Han Y, Gao B
J Neuroradiol 2022 Sep;49(5):392-397. Epub 2021 Dec 8 doi: 10.1016/j.neurad.2021.12.001. PMID: 34896148
Ágg B, Szilveszter B, Daradics N, Benke K, Stengl R, Kolossváry M, Pólos M, Radovits T, Ferdinandy P, Merkely B, Maurovich-Horvat P, Szabolcs Z
Orphanet J Rare Dis 2020 Apr 15;15(1):91. doi: 10.1186/s13023-020-01369-w. PMID: 32293489Free PMC Article
Narula N, Kadian-Dodov D, Olin JW
Prog Cardiovasc Dis 2018 Mar-Apr;60(6):580-585. Epub 2018 Mar 10 doi: 10.1016/j.pcad.2018.03.001. PMID: 29534984
Morris SA
Curr Opin Cardiol 2015 Nov;30(6):587-93. doi: 10.1097/HCO.0000000000000218. PMID: 26398550Free PMC Article
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994

Clinical prediction guides

Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Zhang X, Hao W, Han S, Ren CF, Yang L, Han Y, Gao B
J Neuroradiol 2022 Sep;49(5):392-397. Epub 2021 Dec 8 doi: 10.1016/j.neurad.2021.12.001. PMID: 34896148
Ágg B, Szilveszter B, Daradics N, Benke K, Stengl R, Kolossváry M, Pólos M, Radovits T, Ferdinandy P, Merkely B, Maurovich-Horvat P, Szabolcs Z
Orphanet J Rare Dis 2020 Apr 15;15(1):91. doi: 10.1186/s13023-020-01369-w. PMID: 32293489Free PMC Article
Morris SA
Curr Opin Cardiol 2015 Nov;30(6):587-93. doi: 10.1097/HCO.0000000000000218. PMID: 26398550Free PMC Article
Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC
N Engl J Med 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695. PMID: 16928994

Recent systematic reviews

Asghar A, Priya A, Patra A, Gupta P, Kumar A
Surg Radiol Anat 2023 May;45(5):643-651. Epub 2023 Mar 17 doi: 10.1007/s00276-023-03125-8. PMID: 36932210
Gouda P, Kay R, Habib M, Aziz A, Aziza E, Welsh R
Int J Cardiol 2022 Sep 1;362:158-167. Epub 2022 Jun 1 doi: 10.1016/j.ijcard.2022.05.065. PMID: 35662564
Sudhir BJ, Keelara AG, Venkat EH, Kazumata K, Sundararaman A
Neurosurg Focus 2021 Sep;51(3):E6. doi: 10.3171/2021.6.FOCUS21281. PMID: 34469862

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