Table 6.

Recommended Surveillance for Individuals with Arterial Tortuosity Syndrome

System/ConcernEvaluationFrequency
Arterial
tortuosity,
aneurysms,
stenosis, or
dilatation of
aortic root 		Echocardiography
  • Every 3 mos until age 5 yrs
  • Annually thereafter if diameters of aorta are w/in normal limits
MRA or CT scan w/3D reconstructions from head to pelvis
  • Annually from birth or time of diagnosis
  • Under stable conditions (in absence of aneurysms, stenosis, or dilatation of aortic root), perform every 3 yrs in older children & adults.
Pulmonary
hypertension 		EchocardiogramPer cardiologist
Systemic
hypertension 		Blood pressure measurementAt each visit
Dental
crowding 		Orthodontic evalDuring eruption of permanent dentition
Scoliosis Radiographs to evaluate for progression of scoliosisDuring periods of rapid growth (first 2 yrs of life & during puberty)
Ocular issues Routine follow up for refractive errors & keratoconus w/ophthalmologist w/expertise in connective tissue disorders
Emphysema Eval w/pulmonologist
  • Baseline lung function at age 18 yrs
  • Repeat exam based on symptomatology

From: Arterial Tortuosity Syndrome

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