Article
Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY).
American journal of medical genetics. Part A - 1 Nov 2025
Salamat Bita, Stephens Sara B, Britt Jolie J, Beecroft-Dawson Taylor, Taylor Andrea, Mosquera Laura Muiño, Callewaert Bert, Beyens Aude, Channing Alexandra, Dilorenzo Michael P, Weigand Justin, Jacob Benjamin, Fontenot Eudice, Morris Shaine A
Abstract excerpt
Arterial tortuosity syndrome (ATS) is an ultra-rare arteriopathy with a cardiovascular phenotype of vascular tortuosity, elongation, dilation, and stenosis. In 14 patients with ATS, aortic and pulmonary artery longitudinal growth, phenotypes, and interventions were evaluated. Medical records and images of 14 patients with ATS (defined as biallelic SLC2A10 variants with consistent phenotypes) were reviewed....
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