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.
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Clinical presentation
It presents similarly to other collagen disorders with multiple multisystem abnormalities 3.
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arterial anomalies
tortuosity
lengthening
ectasia, aneurysms
stenoses
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musculoskeletal
joint and skin laxity
joint contractures
hernias: inguinal and diaphragmatic
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ocular defects
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dysmorphic facies
ears: macrotia, low set ears
elongated face, including long philtrum, sagging cheeks, down-slanting palpebral fissures
beaked nose
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cardiac
global cardiomegaly and left ventricular hypertrophy are common
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GI
abnormally-long GI tract
bowel dilatation and perforation
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CNS
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