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Aortic tortuosity

MedGen UID:
870555
Concept ID:
C4025003
Anatomical Abnormality
HPO: HP:0006687

Definition

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

Conditions with this feature

Arterial tortuosity syndrome
MedGen UID:
347942
Concept ID:
C1859726
Disease or Syndrome
Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs).
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.
Aortic valve disease 2
MedGen UID:
762200
Concept ID:
C3542024
Disease or Syndrome
Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene.
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.
Aortic aneurysm, familial thoracic 9
MedGen UID:
863805
Concept ID:
C4015368
Disease or Syndrome
Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the MFAP5 gene.
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).
Loeys-Dietz syndrome 6
MedGen UID:
1794251
Concept ID:
C5562041
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.

Professional guidelines

PubMed

Nistri S, De Cario R, Sticchi E, Spaziani G, Della Monica M, Giglio S, Favilli S, Giusti B, Stefano P, Pepe G
Genes (Basel) 2021 Sep 22;12(10) doi: 10.3390/genes12101462. PMID: 34680857Free PMC Article
Lebo MS, Baxter SM
Clin Lab Med 2014 Mar;34(1):137-56, vii-viii. Epub 2014 Jan 14 doi: 10.1016/j.cll.2013.11.011. PMID: 24507793
Raut SS, Chandra S, Shum J, Finol EA
Ann Biomed Eng 2013 Jul;41(7):1459-77. Epub 2013 Mar 19 doi: 10.1007/s10439-013-0786-6. PMID: 23508633Free PMC Article

Recent clinical studies

Etiology

Chmielewski P, Ponińska JK, Michalak E, Michałowska I, Kowalik I, Truszkowska G, Kugaudo M, Minota I, Stawiński P, Płoski R, Bilińska ZT
Kardiol Pol 2023;81(11):1096-1102. Epub 2023 Oct 12 doi: 10.33963/v.kp.97390. PMID: 37823753
Hejazi M, Choi SH, Phani AS, Hsiang YN
J Vasc Surg 2022 Nov;76(5):1238-1243.e1. Epub 2022 Apr 28 doi: 10.1016/j.jvs.2022.03.879. PMID: 35489553
Chen J, Chen S, Zhang B, Liu J
J Cardiovasc Surg (Torino) 2021 Dec;62(6):632-638. Epub 2021 Jun 18 doi: 10.23736/S0021-9509.21.11657-X. PMID: 34142523
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
Saremi F, Hassani C, Lin LM, Lee C, Wilcox AG, Fleischman F, Cunningham MJ
Radiographics 2018 Nov-Dec;38(7):1949-1972. Epub 2018 Oct 12 doi: 10.1148/rg.2018180025. PMID: 30312138

Diagnosis

Chmielewski P, Ponińska JK, Michalak E, Michałowska I, Kowalik I, Truszkowska G, Kugaudo M, Minota I, Stawiński P, Płoski R, Bilińska ZT
Kardiol Pol 2023;81(11):1096-1102. Epub 2023 Oct 12 doi: 10.33963/v.kp.97390. PMID: 37823753
Srinivasan R, Shanbhag S, Pezzini A, Olivieri L, Morris SA
Int J Cardiovasc Imaging 2022 Nov;38(11):2479-2490. Epub 2022 Jun 25 doi: 10.1007/s10554-022-02665-1. PMID: 36434337
Werner N, Renker M, Dörr O, Bauer T, Nef H, Choi YH, Hamm CW, Zahn R, Kim WK
Int J Cardiol 2022 Mar 1;350:96-103. Epub 2021 Dec 31 doi: 10.1016/j.ijcard.2021.12.044. PMID: 34979147
Chen J, Chen S, Zhang B, Liu J
J Cardiovasc Surg (Torino) 2021 Dec;62(6):632-638. Epub 2021 Jun 18 doi: 10.23736/S0021-9509.21.11657-X. PMID: 34142523
Zhang S, Chen Y, Lu Q
Curr Opin Cardiol 2018 Nov;33(6):581-586. doi: 10.1097/HCO.0000000000000567. PMID: 30188419

Therapy

Witheford M, Borghese O, Mastracci TM, Maurel B
J Vasc Surg 2022 Sep;76(3):645-655.e3. Epub 2022 Mar 31 doi: 10.1016/j.jvs.2022.03.861. PMID: 35367562
Castelli MA, Pfund G, Auza D, Battú C, Balestrini J, De Luca I, Zaefferer P
J Vasc Surg 2022 May;75(5):1583-1590.e1. Epub 2021 Nov 14 doi: 10.1016/j.jvs.2021.10.054. PMID: 34788651
Belvroy VM, Romarowski RM, van Bakel TMJ, van Herwaarden JA, Bismuth J, Auricchio F, Moll FL, Trimarchi S
Eur J Vasc Endovasc Surg 2020 Apr;59(4):557-564. Epub 2020 Jan 7 doi: 10.1016/j.ejvs.2019.09.503. PMID: 31924459
Zhang S, Chen Y, Lu Q
Curr Opin Cardiol 2018 Nov;33(6):581-586. doi: 10.1097/HCO.0000000000000567. PMID: 30188419
Franken R, El Morabit A, de Waard V, Timmermans J, Scholte AJ, van den Berg MP, Marquering H, Planken NR, Zwinderman AH, Mulder BJ, Groenink M
Int J Cardiol 2015 Sep 1;194:7-12. Epub 2015 May 15 doi: 10.1016/j.ijcard.2015.05.072. PMID: 26005802

Prognosis

Chmielewski P, Ponińska JK, Michalak E, Michałowska I, Kowalik I, Truszkowska G, Kugaudo M, Minota I, Stawiński P, Płoski R, Bilińska ZT
Kardiol Pol 2023;81(11):1096-1102. Epub 2023 Oct 12 doi: 10.33963/v.kp.97390. PMID: 37823753
Srinivasan R, Shanbhag S, Pezzini A, Olivieri L, Morris SA
Int J Cardiovasc Imaging 2022 Nov;38(11):2479-2490. Epub 2022 Jun 25 doi: 10.1007/s10554-022-02665-1. PMID: 36434337
Hejazi M, Choi SH, Phani AS, Hsiang YN
J Vasc Surg 2022 Nov;76(5):1238-1243.e1. Epub 2022 Apr 28 doi: 10.1016/j.jvs.2022.03.879. PMID: 35489553
Chen J, Chen S, Zhang B, Liu J
J Cardiovasc Surg (Torino) 2021 Dec;62(6):632-638. Epub 2021 Jun 18 doi: 10.23736/S0021-9509.21.11657-X. PMID: 34142523
Saremi F, Hassani C, Lin LM, Lee C, Wilcox AG, Fleischman F, Cunningham MJ
Radiographics 2018 Nov-Dec;38(7):1949-1972. Epub 2018 Oct 12 doi: 10.1148/rg.2018180025. PMID: 30312138

Clinical prediction guides

Srinivasan R, Shanbhag S, Pezzini A, Olivieri L, Morris SA
Int J Cardiovasc Imaging 2022 Nov;38(11):2479-2490. Epub 2022 Jun 25 doi: 10.1007/s10554-022-02665-1. PMID: 36434337
Hejazi M, Choi SH, Phani AS, Hsiang YN
J Vasc Surg 2022 Nov;76(5):1238-1243.e1. Epub 2022 Apr 28 doi: 10.1016/j.jvs.2022.03.879. PMID: 35489553
Witheford M, Borghese O, Mastracci TM, Maurel B
J Vasc Surg 2022 Sep;76(3):645-655.e3. Epub 2022 Mar 31 doi: 10.1016/j.jvs.2022.03.861. PMID: 35367562
Chen J, Chen S, Zhang B, Liu J
J Cardiovasc Surg (Torino) 2021 Dec;62(6):632-638. Epub 2021 Jun 18 doi: 10.23736/S0021-9509.21.11657-X. PMID: 34142523
Saremi F, Hassani C, Lin LM, Lee C, Wilcox AG, Fleischman F, Cunningham MJ
Radiographics 2018 Nov-Dec;38(7):1949-1972. Epub 2018 Oct 12 doi: 10.1148/rg.2018180025. PMID: 30312138

Recent systematic reviews

Allard J, Ghazanfari S, Mahmoudi M, Labreuche J, Escalard S, Delvoye F, Ciccio G, Smajda S, Redjem H, Hebert S, Consoli A, Costalat V, Desilles JP, Mazighi M, Piotin M, Dargazanli C, Lapergue B, Blanc R, Maïer B
J Neurointerv Surg 2021 Sep;13(9):809-815. Epub 2020 Oct 19 doi: 10.1136/neurintsurg-2020-016725. PMID: 33077577
Belvroy VM, de Beaufort HWL, van Herwaarden JA, Trimarchi S, Moll FL, Bismuth J
Ann Vasc Surg 2020 Jan;62:474-483. Epub 2019 Aug 23 doi: 10.1016/j.avsg.2019.06.030. PMID: 31449934

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