Arterial tortuosity syndrome
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.
- arterial anomalies
- ocular defects
- dysmorphic facies
- abnormally-long GI tract
- bowel dilatation and perforation
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
Treatment and prognosis
- 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
- 1. Bhat V. Arterial Tortuosity Syndrome: An Approach through Imaging Perspective. (2014) Journal of clinical imaging science. 4: 44. doi:10.4103/2156-7514.139734 - Pubmed
- 2. Murphy-Ryan M, Psychogios A, Lindor NM. Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis. (2010) Genetics in medicine : official journal of the American College of Medical Genetics. 12 (6): 344-54. doi:10.1097/GIM.0b013e3181e074f0 - Pubmed
- 3. Farkas A, Steiner M, Giles H, Miller K. Arterial tortuosity syndrome: An extremely rare disease presenting as a mimic of pulmonary sling. (2018) Radiology case reports. 13 (1): 295-298. doi:10.1016/j.radcr.2017.10.023 - Pubmed
- 4. Satish G, Nampoothiri S, Kappanayil M. Images in cardiovascular medicine. Arterial tortuosity syndrome: phenotypic features and cardiovascular manifestations. (2008) Circulation. 117 (23): e477-8. doi:10.1161/CIRCULATIONAHA.107.739839 - Pubmed
- 5. Cheng CH, Kikuchi T, Chen YH, Sabbagha NG, Lee YC, Pan HJ, Chang C, Chen YT. Mutations in the SLC2A10 gene cause arterial abnormalities in mice. (2009) Cardiovascular research. 81 (2): 381-8. doi:10.1093/cvr/cvn319 - Pubmed