Arterial tortuosity syndrome

MONDO:0008818

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

Also known as: arterial tortuosity syndrome, ATS, arterial tortuosity

1 clinical trial for this condition and its sub-types, 1 tagged with Arterial tortuosity syndrome itself.

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Where it sits in the disease tree

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↑ Vascular disorder (10696) ↑ Hereditary disorder of connective tissue (1311) ↑ Inherited cutis laxa (2)

Including sub-types (1) Tagged with Arterial tortuosity syndrome (1)

Not yet finished but already full! 1

Scientists hunt for hidden genes behind aortic aneurysms

Knowledge-focused Ongoing

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

Sponsor: Yale University • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:04 UTC

Arterial tortuosity syndrome

Where it sits in the disease tree

Scientists hunt for hidden genes behind aortic aneurysms