Abstract 12192: Arterial Tortuosity Syndrome: A Longitudinal Assessment Of Cardiovascular Features

• DOI: 10.1161/circ.144.suppl_1.12192
• Publication Date: 2022-04-28T21:58:15Z
• Authors: Bita Salamat; Andrea Taylor; Sara Stephens; Taylor Beecroft; Justin Weigand; Ben Jacob; Shaine A Morris
• Keywords: Dilation (metric space); Tortuosity

Introduction: Arterial tortuosity syndrome (ATS) is an ultra-rare arteriopathy caused by pathogenic biallelic variants in SLC2A10 leading to tortuosity, elongation, and dilation of vessels, pulmonary artery (PA) stenosis (Fig 1). No studies date have evaluated the progression cardiovascular (CV) features, including aortic root (AR) ascending aorta (AA) dilation. Hypothesis: We hypothesize AR AA progress similar other aortopathies with increase dimensions but stable z-scores childhood. Methods: A retrospective cohort study patients at our institution ATS, defined homozygous or compound heterozygous mutations consistent phenotypes, from 2000-2021 was conducted. CV imaging, medications, interventions were reviewed. measurements collected echocardiographic reports calculated. Dilation as z-score > +2. Slopes calculated using mixed linear regression. Results: Six subjects (5 males) aged 1 month-16 years diagnosis included. All had dilation, 50% main branch PA a given point. intervention only performed patient who underwent multiple bilateral angioplasties stenting for severe distal hypoplasia. Three prescribed beta-blockers, whom one also losartan. Figure 2 shows mean slopes changes. dissection surgery. Conclusions: In conclusion, persist ATS aortopathies. Larger sample size investigations may further elucidate role medications ATS.