Key result
Imaging of a pulsatile supraclavicular swelling reveals arterial tortuosity syndrome managed conservatively with yearly follow-up.
Why the study?
Arterial tortuosity syndrome is a rare genetic arteriopathy with fewer than a hundred cases reported, mostly in infants and children.
Case Report (n=1)
Highlights a rare adult presentation of arterial tortuosity syndrome, typically seen in infants and children, diagnosed via cross-sectional imaging.
Adult ATS presentation with pulsatile mass warrants diagnostic consideration; leaves open natural history and management implications in adults.
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.
No takes yet. Share an insight, caveat, or question.
Kota et al. (2020) conducted a case report in Arterial tortuosity syndrome (n=1). Conservative management (reassurance and yearly follow-up) was evaluated. A 36-year-old woman was diagnosed with arterial tortuosity syndrome based on imaging characteristics of a pulsatile supraclavicular swelling and managed conservatively with yearly follow-up.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: