Arteries gone astray: Adult presentation of arterial tortuosity syndrome

Abstract

Arterial tortuosity syndrome (ATS) is a rare genetic arteriopathy with tortuosity of large- and medium-sized arteries, transmitted in an autosomal recessive fashion. Over the years, better cross-sectional imaging has heightened the chances of diagnosing this entity. So far, less than hundred cases have been reported in literature. Most of these are seen in infants and children. A 36 year old lady presented to us with a pulsatile swelling in the right supraclavicular region. She was diagnosed to have ATS based on her imaging characteristics. As she had no significant vascular compromise, she was reassured and advised yearly follow-up.

Keywords

• arterial tortuosity syndrome
• genetic arteriopathies
• adult presentation