Arterial Tortuosity Syndrome (2024)

  • Adamo CS, Beyens A, Schiavinato A, Keene DR, Tufa SF, Mörgelin M, Brinckmann J, Sasaki T, Niehoff A, Dreiner M, Pottie L, Muiño-Mosquera L, Gulec EY, Gezdirici A, Braghetta P, Bonaldo P, Wagener R, Paulsson M, Bornaun H, De Rycke R, De Bruyne M, Baeke F, Devine WP, Gangaram B, Tam A, Balasubramanian M, Ellard S, Moore S, Symoens S, Shen J, Cole S, Schwarze U, Holmes KW, Hayflick SJ, Wiszniewski W, Nampoothiri S, Davis EC, Sakai LY, Sengle G, Callewaert B. EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. Am J Hum Genet. 2022;109:2230–52. [PMC free article: PMC9748297] [PubMed: 36351433]

  • Allen VM, Horne SG, Penney LS, Rapchuk IL, Brock JA, Thompson DL, Stinson DA. Successful outcome in pregnancy with arterial tortuosity syndrome. Obstet Gynecol. 2009;114:494–8. [PubMed: 19622975]

  • 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. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018;20:1236–45. [PubMed: 29323665]

  • Boel A, Veszelyi K, Németh CE, Beyens A, Willaert A, Coucke P, Callewaert B, Margittai É. Arterial tortuosity syndrome: an ascorbate compartmentalization disorder? Antioxid Redox Signal. 2021;34:875–89. [PubMed: 31621376]

  • Bottio T, Bisleri G, Piccoli P, Muneretto C. Valve-sparing aortic root replacement in a patient with a rare connective tissue disorder: arterial tortuosity syndrome. J Thorac Cardiovasc Surg. 2007;133:252–3. [PubMed: 17198824]

  • Callewaert B, Su CT, Van Damme T, Vlummens P, Malfait F, Vanakker O, Schulz B, Mac Neal M, Davis EC, Lee JG, Salhi A, Unger S, Heimdal K, De Almeida S, Kornak U, Gaspar H, Bresson JL, Prescott K, Gosendi ME, Mansour S, Piérard GE, Madan-Khetarpal S, Sciurba FC, Symoens S, Coucke PJ, Van Maldergem L, Urban Z, De Paepe A. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Hum Mutat. 2013;34:111–21. [PMC free article: PMC4105850] [PubMed: 22829427]

  • Callewaert BL, Willaert A, Kerstjens-Frederikse WS, De Backer J, Devriendt K, Albrecht B, Ramos-Arroyo MA, Doco-Fenzy M, Hennekam RC, Pyeritz RE, Krogmann ON, Gillessen-kaesbach G, Wakeling EL, Nik-zainal S, Francannet C, Mauran P, Booth C, Barrow M, Dekens R, Loeys BL, Coucke PJ, De Paepe AM. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat. 2008;29:150–8. [PubMed: 17935213]

  • Castori M, Ritelli M, Zoppi N, Molisso L, Chiarelli N, Zaccagna F, Grammatico P, Colombi M. Adult presentation of arterial tortuosity syndrome in a 51-year-old woman with a novel hom*ozygous c.1411+1G>A mutation in the SLC2A10 gene. Am J Med Genet A. 2012;158A:1164–9. [PubMed: 22488877]

  • Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F, Willems PJ, Forsyth R, Dietz HC, Barlati S, Colombi M, Loeys B, De Paepe A. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet. 2006;38:452–7. [PubMed: 16550171]

  • de Marcellus C, Baudouin V, Tanase A, Monet C, Perrin L, Deschenes G, Hogan J. Severe neonatal hypertension revealing arterial tortuosity syndrome. Kidney Int. 2018;93:526. [PubMed: 29389400]

  • Drera B, Barlati S, Colombi M. Ischemic stroke in an adolescent with arterial tortuosity syndrome. Neurology. 2007a;68:1637. [PubMed: 17485657]

  • Drera B, Guala A, Zoppi N, Gardella R, Franceschini P, Barlati S, Colombi M. Two novel SLC2A10/GLUT10 mutations in a patient with arterial tortuosity syndrome. Am J Med Genet A. 2007b;143A:216–8. [PubMed: 17163528]

  • Hardin JS, Zarate YA, Callewaert B, Phillips PH, Warner DB. Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: a case series. Ophthalmic Genet. 2018;39:29–34. [PubMed: 28726533]

  • Hasler S, Stürmer J, Kaufmann C. Keratoglobus and deep stromal corneal opacification in a case of arterial tortuosity syndrome. Klin Monbl Augenheilkd. 2011;228:345–6. [PubMed: 21484644]

  • Huang SJ, Amendola LM, Sternen DL. Variation among DNA banking consent forms: points for clinicians to bank on. J Community Genet. 2022;13:389–97. [PMC free article: PMC9314484] [PubMed: 35834113]

  • Hucthagowder V, Sausgruber N, Kim KH, Angle B, Marmorstein LY, Urban Z. Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome. Am J Hum Genet. 2006;78:1075–80. [PMC free article: PMC1474103] [PubMed: 16685658]

  • Jónsson H, Sulem P, Kehr B, Kristmundsdottir S, Zink F, Hjartarson E, Hardarson MT, Hjorleifsson KE, Eggertsson HP, Gudjonsson SA, Ward LD, Arnadottir GA, Helgason EA, Helgason H, Gylfason A, Jonasdottir A, Jonasdottir A, Rafnar T, Frigge M, Stacey SN, Th Magnusson O, Thorsteinsdottir U, Masson G, Kong A, Halldorsson BV, Helgason A, Gudbjartsson DF, Stefansson K. Parental influence on human germline de novo mutations in 1,548 trios from Iceland. Nature. 2017;549:519–22. [PubMed: 28959963]

  • Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S, Lazareska M, Dordoni C, Ritelli M, Colombi M. Clinical variability in two Macedonian families with arterial tortuosity syndrome. Balkan J Med Genet. 2018;21:47–52. [PMC free article: PMC6231313] [PubMed: 30425910]

  • Lees MH, Menashe VD, Sunderland CO, Mgan CL, Dawson PJ. Ehlers-Danlos syndrome associated with multiple pulmonary artery stenoses and tortuous systemic arteries. J Pediatr. 1969;75:1031–6. [PubMed: 5352829]

  • Meester JA, Vandeweyer G, Pintelon I, Lammens M, Van Hoorick L, De Belder S, Waitzman K, Young L, Markham LW, Vogt J, Richer J, Beauchesne LM, Unger S, Superti-Furga A, Prsa M, Dhillon R, Reyniers E, Dietz HC, Wuyts W, Mortier G, Verstraeten A, Van Laer L, Loeys BL. Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections. Genet Med. 2017;19:386–95. [PMC free article: PMC5207316] [PubMed: 27632686]

  • Moceri P, Albuisson J, Saint-Faust M, Casagrande F, Giuliano F, Devos C, Benoit P, Hugues N, Ducreux D, Cerboni P, Dageville C, Jeunemaitre X. Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity. J Am Coll Cardiol. 2013;61:783. [PubMed: 23410549]

  • Pletcher BA, Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, Brunson S, Tafreshi P, Kahn E. Four sibs with arterial tortuosity: description and review of the literature. Am J Med Genet. 1996;66:121–8. [PubMed: 8958317]

  • Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Adès LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Clinical validity of genes for heritable thoracic aortic aneurysm and dissection. J Am Coll Cardiol. 2018;72:605–15. [PMC free article: PMC6378369] [PubMed: 30071989]

  • Renard M, Holm T, Veith R, Callewaert BL, Adès LC, Baspinar O, Pickart A, Dasouki M, Hoyer J, Rauch A, Trapane P, Earing MG, Coucke PJ, Sakai LY, Dietz HC, De Paepe AM, Loeys BL. Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet. 2010;18:895–901. [PMC free article: PMC2987390] [PubMed: 20389311]

  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. [PMC free article: PMC4544753] [PubMed: 25741868]

  • Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays. 2000;22:452–9. [PubMed: 10797485]

  • Satish G, Nampoothiri S, Kappanayil M. Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. Circulation. 2008;117:e477–8. [PubMed: 18541745]

  • Stenson PD, Mort M, Ball EV, Chapman M, Evans K, Azevedo L, Hayden M, Heywood S, Millar DS, Phillips AD, Cooper DN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. Hum Genet. 2020;139:1197–207. [PMC free article: PMC7497289] [PubMed: 32596782]

  • Takahashi Y, Fujii K, Yoshida A, Morisaki H, Kohno Y, Morisaki T. Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. Am J Med Genet A. 2013;161A:856–9. [PubMed: 23494979]

  • Wessels MW, Catsman-Berrevoets CE, Mancini GM, Breuning MH, Hoogeboom JJ, Stroink H, Frohn-Mulder I, Coucke PJ, Paepe AD, Niermeijer MF, Willems PJ. Three new families with arterial tortuosity syndrome. Am J Med Genet A. 2004;131:134–43. [PubMed: 15529317]

  • Zaidi SH, Meyer S, Peltekova I, Teebi AS, Faiyaz-Ul-Haque M. Congenital diaphragmatic abnormalities in arterial tortuosity syndrome patients who carry mutations in the SLC2A10 gene. Clin Genet. 2009;75:588–9. [PubMed: 19508422]

  • Zoma JM, Aggarwal S, Kobayashi D. Arterial tortuosity syndrome in a term neonate. Ann Thorac Surg. 2019;108:e281. [PubMed: 31077662]

  • Arterial Tortuosity Syndrome (2024)

    FAQs

    How rare is arterial tortuosity syndrome? ›

    Arterial tortuosity syndrome is a rare disorder; its prevalence is unknown. About 100 cases have been reported in the medical literature.

    How do you treat tortuous arteries? ›

    While many mild tortuous arteries are left untreated, severely tortuous arteries with clinical symptoms can be treated with reconstructive surgery [61].

    Should I be concerned about a tortuous aorta? ›

    Patients with tortuous arteries are prone to aneurysm formation, dissection and ischemic events and other various cardiovascular and respiratory complications.

    Are tortuous vessels normal? ›

    Tortuous arteries and veins are commonly observed in humans and animals. While mild tortuosity is asymptomatic, severe tortuosity can lead to ischemic attack in distal organs. Clinical observations have linked tortuous arteries and veins with aging, atherosclerosis, hypertension, genetic defects and diabetes mellitus.

    What are the facial features of arterial tortuosity syndrome? ›

    Note a long face, hypertelorism, downslanting palpebral fissures, sagging cheeks, large ears, beaked nose. (b) Vascular imaging. Patient F19: 3D vascular imaging of the aorta and aortic side branches (frontal view) showing tortuosity of the aorta, supra-aortic, and pulmonary arteries.

    What causes arterial tortuosity syndrome? ›

    Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Coucke PJ, Willaert A, Wessels MW, et al. Nat Genet. 2006;38:452–457. [

    What is the number one food to clean arteries? ›

    1. Fish. Fatty or oily fish such as salmon and tuna are a great source of omega-3 fats, compounds which have been shown in studies to reduce the amount of plaque which sticks in your arteries. These healthy fats also have anti-inflammatory properties which can help with many aspects of your overall health.

    What drink can clean your arteries? ›

    What drink cleans arteries? Some research suggests that herbal teas such as green tea may help treat clogged arteries. However, a person may need to make other dietary and lifestyle changes, as well as taking other preventive steps to prevent further plaque buildup.

    What vitamin removes plaque from arteries? ›

    Optimal Vitamin K2 intake is crucial to avoid the calcium plaque buildup of atherosclerosis, thus keeping the risk and rate of calcification as low as possible. Matrix GLA protein (MGP)—found in the tissues of the heart, kidneys, and lungs—plays a dominant role in vascular calcium metabolism.

    What medicine is good for tortuous aorta? ›

    Medications
    • Beta blockers. These medicines lower blood pressure by slowing the heart rate. ...
    • Angiotensin 2 receptor blockers. These medicines may be used if beta blockers can't be taken or if they don't adequately control blood pressure. ...
    • Statins.
    Apr 25, 2023

    Are there warning signs before an aortic aneurysm? ›

    5 warning signs and symptoms that aortic aneurysm might be suspected include: 1) Chest tenderness or chest pain, dizziness or light-headedness, back pain, coughing up blood (hemoptysis) and loss of consciousness due to the ruptures.

    What does tortuosity of the aorta mean? ›

    A tortuous aorta may be characterized as a twisted, curved, enlarged or narrowed blood vessel of the heart. An underlying cause of the distorted shape may be due to a build up of fatty tissue that collects on the walls of the vessels or, it may be a finding from birth.

    How common is arterial tortuosity? ›

    Arterial tortuosity syndrome is a rare genetic disorder characterized by dilation, elongation, and significant tortuosity of major arteries. Approximately 100 cases of this disorder have been reported worldwide, including 3 reports in Iran.

    What does tortuous mean in cardiology? ›

    Arterial tortuosity, that is, the presence of abnormal twists and turns of one or several arteries has been recognized for decades and associated with older age, female sex, high blood pressure, and other cardiovascular risk factors.

    How are tortuous coronary arteries treated? ›

    According to this background, we think that the best treatment for this patient is to perform a sequential graft with a saphenous vein starting with a terminal lateral anastomoses on the posterior descending coronary artery and continuing, creating a sequential anastomoses between the vein and the postero-lateral ...

    How common is a tortuous carotid artery? ›

    Carotid artery tortuosity is defined as vascular elongation leading to redundancy or an altered course. Recent evidence suggests that the prevalence of carotid tortuosity is higher than conventionally expected ranging from 18% to 34%.

    How common is arterial disease? ›

    PAD (or more broadly peripheral vascular disease) is a common form of atherosclerosis, but it is one of the least recognized. One in every 20 Americans over age 50 has PAD.

    What are the most tortuous arteries in the human body? ›

    Among all the vascular anomalies, tortuous arteries are commonly observed. The most common arteries which have a tortuous course include the aorta, vertebral, iliac, femoral, coronary, cerebral, and internal carotid arteries [3].

    What is very rare blood vessel disease? ›

    Fibromuscular dysplasia (FMD) is a rare blood vessel disorder in which some of the strong, flexible cells of arteries are replaced with cells that are more fibrous. Fibrous cells are less strong and also less flexible.

    Top Articles
    Latest Posts
    Article information

    Author: Zonia Mosciski DO

    Last Updated:

    Views: 6570

    Rating: 4 / 5 (71 voted)

    Reviews: 86% of readers found this page helpful

    Author information

    Name: Zonia Mosciski DO

    Birthday: 1996-05-16

    Address: Suite 228 919 Deana Ford, Lake Meridithberg, NE 60017-4257

    Phone: +2613987384138

    Job: Chief Retail Officer

    Hobby: Tai chi, Dowsing, Poi, Letterboxing, Watching movies, Video gaming, Singing

    Introduction: My name is Zonia Mosciski DO, I am a enchanting, joyous, lovely, successful, hilarious, tender, outstanding person who loves writing and wants to share my knowledge and understanding with you.