Arterial tortuosity syndrome

Arterial tortuosity syndrome (ATS)
Arterial tortuosity syndrome has an autosomal recessive pattern of inheritance
SpecialtyCardiology 
SymptomsCongenital diaphragmatic hernia
CausesMutations in SLC2A10 gene
Diagnostic methodCT scan, MRI
TreatmentPossible surgery for aortic aneurysms

Arterial tortuosity syndrome is an extremely rare congenital connective tissue condition disorder characterized by tortuosity, elongation, stenosis, or aneurysms in major and medium-size arteries including the aorta.