Arterial tortuosity syndrome (ATS)

Evidence-based neurology checklist on arterial tortuosity syndrome (ats): Pathology This is a connective tissue disorder It affects large and medium-sized arteries This is vascular tortuosity, elongation, dilation, and stenosis Genetics Cardiovascular features Ophthalmic features Other features…

Pathology

  • This is a connective tissue disorder
  • It affects large and medium-sized arteries
  • This is vascular tortuosity, elongation, dilation, and stenosis

Genetics

Cardiovascular features

Ophthalmic features

Other features

Differential diagnosis: causes of arterial tuortosity

Investigation

Treatment

Pathology

Genetics

Cardiovascular features

Ophthalmic features

Other features

Differential diagnosis: causes of arterial tuortosity

Investigation

Treatment

References

  1. Nanayakkara DNP, Hartley R, Wijesinghe HE, Ganeshan A. Arterial tortuosity syndrome. BMJ Case Rep 2025; 18:e266518.
  2. Callewaert BL, Willaert A, Kerstjens-Frederikse WS, et al. Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat 2008; 29:150-158.
  3. Ekhator C, Devi M, Barker C, et al. Arterial tortuosity syndrome: unraveling a rare vascular disorder. Cureus 2023; 15:e44906.
  4. Salamat B, Stephens SB, Britt JJ, et al. Arterial tortuosity syndrome: a longitudinal assessment of cardiovascular features and interventions from the collaborative for longitudinal aortic research in the young (CLARITY). Am J Med Genet A 2025; 197:e64159
  5. Asafu Adjaye Frimpong G, Aboagye E, Tannor EK, Chigbu NCC, Daboner VT. Coarctation of the aorta with arterial tortuosity syndrome - a case report with cinematic rendering. Int Med Case Rep J 2022; 15:349-354.
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