Arterial tortuosity syndrome 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

Arterial tortuosity syndrome presents similarly to other collagen disorders with multiple multisystem abnormalities ³:

• vascular: arterial tortuosity, lengthening, ectasia, aneurysms, dissection,

  stenoses

• musculoskeletal: joint and skin laxity, joint contractures, camptodactyly, pectus excavatum, spinal scoliosis, hernias (inguinal and diaphragmatic), arachnodactyly

• ocular: keratoconus

• dysmorphic facies: micrognathia, 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

• gastrointestinal: abnormally-long gastrointestinal tract, bowel dilatation and perforation

• CNS: macrocephaly, hypotonia

Pathology

The condition predominantly affects the large and medium sized arteries ^ref.

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 ^ref:

• 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 ^ref

• regular orthopedic review during childhood and adolescence ^ref