Arterial tortuosity syndrome
| Arterial tortuosity syndrome (ATS) | |
|---|---|
| Arterial tortuosity syndrome has an autosomal recessive pattern of inheritance | |
| Specialty | Cardiology |
| Symptoms | Congenital diaphragmatic hernia |
| Causes | Mutations in SLC2A10 gene |
| Diagnostic method | CT scan, MRI |
| Treatment | Possible 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.