Arterial tortuosity syndrome

Last revised by Daniel J Bell on 20 Feb 2021

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease. It is similar to Ehlers-Danlos syndrome (EDS), the major differentiator being the general tortuous nature of the larger arteries.

It presents similarly to other collagen disorders with multiple multisystem abnormalities 3.

The condition predominantly affects the large and medium sized arteries.

The underlying genetic defect is a mutation of the SLC2A10 gene, found on chromosome 20q13 1,3. The gene product acts as a glucose transporter, specifically GLUT10, one of the class III facilitative glucose transporter family 5.

The imaging features reflect the typical clinical presentation including:

  • complex cardiac disease: cardiomegaly, ventricular hypertrophy
  • arterial anomalies: aneurysms, dissections, tortuosity and vessel elongation
  • musculoskeletal: chest wall deformity, scoliosis, arachnodactyly
  • bowel dilatation and spontaneous perforation
  • annual echocardiography and 3-yearly vascular CT/MRI have been advocated in view of the elevated probability of aneurysms and dissections 3
  • frequent ophthalmological review
  • regular orthopedic review during childhood and adolescence

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