Recognizing Arterial Tortuosity Syndrome in Adulthood: A Case Unveiled by Stress Echocardiography.

Authors

Parsa Asachi, Aditya R Gandhi, Dan Halpern, Alan F Vainrib, Muhamed Sarić

Published in

JACC. Case reports. Pages 110832. Oct 19, 2026. Epub Oct 19, 2026.

Abstract

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder characterized by arterial elongation, tortuosity, and stenosis.
A 31-year-old woman with childhood peripheral pulmonary artery stenosis was referred for preconception counseling. Examination revealed a high-arched palate, narrow facies, dolichostenomelia, and joint hypermobility. Stress echocardiography demonstrated exercise-induced right ventricular systolic hypertension and incidental carotid tortuosity. Computed tomography angiography revealed tortuosity of the aortic arch, celiac trunk, and pulmonary artery branches. Genetic testing confirmed ATS. Pulmonary artery balloon angioplasty and stenting were performed. She was initiated on metoprolol and referred to maternal-fetal medicine.
ATS in adulthood may be identified following incidental findings of arterial tortuosity on imaging. ATS should be considered in patients with these findings and syndromic connective tissue features.
Imaging is crucial in diagnosing ATS. Echocardiographic findings of right ventricular systolic hypertension and arterial tortuosity should prompt consideration of ATS in the right clinical setting.

PMID:
42969915
Bibliographic data and abstract were imported from PubMed on 02 Nov 2026.

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