Arterial and Venous Tortuosity Syndrome: A Case Report

Document Type : Case Report

Authors

Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, IR Iran.

Abstract

Arterial tortuosity syndrome (ATS) is a rare, autosomal, and recessive disorder. The genetic defect in this disease is caused by loss-of-function mutations in the SLC2A10 gene, which encodes facilitative glucose GLUT 10. ATS is characterized by the widespread elongation and tortuosity of the aorta and the mid-sized arteries and focal stenosis in segments of the pulmonary arteries and/or the aorta combined with findings of a generalized connective tissue disorder. About 12% of all affected individuals are admitted to the neonatal intensive care unit because of primary presentation with infant respiratory distress syndrome. Most affected patients are identified in early childhood with cardiac murmurs or cyanosis. Here, we describe a 6-year-old boy with repeat hospitalizations due to respiratory symptoms and a history of unilateral hernioplasty. Physical examinations showed an increased range of motion in the joints and a decreased lower limb pulse, raising the suspicion of aortic coarctation. Frontal chest radiography, echocardiography, and computed tomography angiography demonstrated elongation and tortuosity in most of the patient’s arteries and veins. (Iranian Heart Journal 2023; 24(4): 85-89)

Keywords

References

  1. Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, Monica MD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P. Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. BMC Medical Genetics. 2014; 15(1):1-0.
  2. Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E. Arterial tortuosity syndrome: 40 new families and literature review. Genetics in Medicine. 2018; 20(10):1236-45.
  3. Castori, Marco, et al. "Adult presentation of arterial tortuosity syndrome in a 51‐year‐old woman with a novel homozygous c. 1411+ 1G> A mutation in the SLC2A10 gene." American Journal of Medical Genetics Part A 158.5 (2012): 1164-1169.
  4. 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. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Human mutation. 2008; 29(1):150-8.
  5. de Marcellus C, Baudouin V, Tanase A, Monet C, Perrin L, Deschenes G, Hogan J. Severe neonatal hypertension revealing arterial tortuosity syndrome. Kidney International. 2018; 93(2):526.‏
  6. Hoop R, Steinmann B, Valsangiacomo Buechel ER. Cardiovascular findings in arterial tortuosity syndrome. European heart journal. 2006; 27(17):2045-.
  7. Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS. A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. Atherosclerosis. 2009; 203(2):466-71.
  8. 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 homozygous c. 1411+ 1G> A mutation in the SLC2A10 gene. American Journal of Medical Genetics Part A. 2012; 158(5):1164-9.
  9. Coucke PJ, Willaert A, Wessels MW, Callewaert B, Zoppi N, De Backer J, Fox JE, Mancini GM, Kambouris M, Gardella R, Facchetti F. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nature genetics. 2006; 38(4):452-7.
  10. ‏Liu Q, Mirc D, Fu BM. Mechanical mechanisms of thrombosis in intact bent microvessels of rat mesentery. Journal of biomechanics. 2008; 41(12):2726-34.
  11. Dean, L.S., George, C.J., Roubin, G.S., Kennard, E.D., Holmes, D.R., King, S.B., Vlietstra, R.E., Moses, J.W., Kereiakes, D., Carrozza, J.P. and Ellis, S.G., 1997. Bailout and corrective use of Gianturco-Roubin flex stents after percutaneous transluminal coronary angioplasty: operator reports and angiographic core laboratory verification from the National Heart, Lung, and Blood Institute/New Approaches to Coronary Intervention Registry. Journal of the American College of Cardiology, 29(5), pp.934-940.
  12. Naunheim MR, Walcott BP, Nahed BV, MacRae CA, Levinson JR, Ogilvy CS. Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. Archives of neurology. 2011; 68(3):369-71.
  13. Sheng CH, Yuan HO, Sherchan P, Zhang JM. Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report. Turkish neurosurgery. 2014; 24(3):419.
  14. ‏Kumar P. Arterial tortuosity syndrome: a case report and literature review. Cardiovascular Imaging Asia. 2021 Jan 1; 5(1):9-12.
  15. Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E. Arterial tortuosity syndrome: 40 new families and literature review. Genetics in Medicine. 2018; 20(10):1236-45.
  16. Liang M, Wen H, Li S. Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis. BMC Pregnancy and Childbirth. 2021; 21(1):1-8.
  17. Morris SA, Orbach DB, Geva T, Singh MN, Gauvreau K, Lacro RV. Increased vertebral artery tortuosity index is associated with adverse outcomes in children and young adults with connective tissue disorders. Circulation. 2011; 124(4):388-96.
  18. ‏Han HC. Twisted blood vessels: symptoms, etiology and biomechanical mechanisms. Journal of vascular research. 2012; 49(3):185-97.
  19. Wijesinghe S, De Silva D, Samarasinghe D, Irugalbandara S. Arterial tortuosity syndrome: A rare inherited form of connective tissue disorder with SLR2A10 gene mutation. (2022).
Iranian Heart Journal
Volume 24, Issue 4
October 2023
Pages 85-89

Files

Share

How to cite

Statistics