Arterial tortuosity syndrome
Nanayakkara, Dilini N P Hartley, Ruth Wijesinghe, Haren Eranga Ganeshan, Arul
Nanayakkara, Dilini N P
Hartley, Ruth
Wijesinghe, Haren Eranga
Ganeshan, Arul
Affiliation
University Hospitals Birmingham NHS Foundation Trust
Other Contributors
Publication date
2025-08-04
Collections
Research Projects
Organizational Units
Journal Issue
Abstract
Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It causes elongation and tortuosity of large and medium-sized arteries with consequent dilatation and/or stenosis. Other features of ATS include: skin/joint laxity, hernia formation, distinct facial features, cardiac valvular regurgitation and other cardiac abnormalities. We present a woman in her early 20s, who presented with mitral regurgitation and was referred for genetic testing due to her tall stature, as Marfan's syndrome was suspected. However, genetic testing revealed she had ATS. Subsequent MR Angiography illustrated a significantly tortuous arterial anatomy. Differentiating ATS from other connective tissue disorders allows planning of future screening and management.
Citation
Nanayakkara DNP, Hartley R, Wijesinghe HE, Ganeshan A. Arterial tortuosity syndrome. BMJ Case Rep. 2025 Aug 4;18(8):e266518. doi: 10.1136/bcr-2025-266518.
Type
Article