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.

Clinical presentation

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

• arterial anomalies
  • tortuosity
  • lengthening
  • ectasia, aneurysms
  • dissection
  • stenoses
• musculoskeletal
  • joint and skin laxity
  • joint contractures
  • pectus excavatum
  • spinal scoliosis
  • hernias: inguinal and diaphragmatic
  • arachnodactyly
• ocular defects
  • keratoconus
• dysmorphic facies
  • micrognathia
  • ears: macrotia, low set ears
  • elongated face, including long philtrum, sagging cheeks, down-slanting palpebral fissures
  • high arched palate
  • beaked nose
• cardiac
  • global cardiomegaly and left ventricular hypertrophy are common
• GI
  • abnormally-long GI tract
  • bowel dilatation and perforation
• CNS
  • macrocephaly
  • hypotonia

Pathology

The condition predominantly affects the large and medium sized arteries.

Genetics

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.

Radiographic features

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