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First antenatally confirmed case of arterial tortuosity syndrome
Published online by Cambridge University Press: 08 September 2020
Abstract
Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.
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- © The Author(s), 2020. Published by Cambridge University Press
References
Ekici, F, Uçar, T, Fitöz, S, Atalay, S, Tutar, E. Cardiovascular findings in a boy with arterial tortuosity syndrome: case report and review of the literature. Turk J Pediatr 2011; 53: 104–107.Google Scholar
Németh, CE, Marcolongo, P, Gamberucci, A, et al. Glucose transporter type 10—lacking in arterial tortuosity syndrome—facilitates dehydroascorbic acid transport. FEBS Lett 2016; 590: 1630–1640.CrossRefGoogle ScholarPubMed
Beyens, A, Albuisson, J, Boel, A, et al. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med 2018; 20: 1236–1245.CrossRefGoogle ScholarPubMed
Callewaert, B, De Paepe, A, Coucke, P. Arterial tortuosity syndrome. In: Adam, M, Ardinger, H, Pagon, R (eds.). GeneReviews [Internet]. Washington: University of Washington; 2014. p. 1–18. Available from: https://www.ncbi.nlm.nih.gov/books/NBK253404/
Google ScholarPubMed
Marwah, A, Shah, S, Suresh, P, Maheshwari, S. Arterial tortuosity syndrome: a rare entity. Ann Pediatr Cardiol 2008; 1: 62–64.Google ScholarPubMed
Al-Obaidly, S, Kamal, R, Al-Musafri, F, et al. EP11.13: Prenatal arterial tortuosity syndrome: a de facto late diagnosis. Ultrasound Obstet Gynecol 2018; 52: 247–247.CrossRefGoogle Scholar
Naunheim, MR, Walcott, BP, Nahed, BV, MacRae, CA, Levinson, JR, Ogilvy, CS. Arterial tortuosity syndrome with multiple intracranial aneurysms: a case report. Arch Neurol 2011; 68: 369–371.CrossRefGoogle ScholarPubMed
Al-Khaldi, A, Mohammed, Y, Tamimi, O, Alharbi, A. Early outcomes of total pulmonary arterial reconstruction in patients with Arterial Tortuosity Syndrome. Ann Thorac Surg 2011; 92: 698–704.doi: 10.1016/j.athoracsur.2011.03.068
CrossRefGoogle ScholarPubMed
Vicchio, M, Santoro, G, Carrozza, M, Caianiello, G. Hybrid approach in a case of arterial tortuosity syndrome. Interact Cardiovasc Thorac Surg 2008; 7: 736–737.CrossRefGoogle Scholar