| Autor: |
Salamat, Bita, Taylor, Andrea, Stephens, Sara, Beecroft, Taylor, Weigand, Justin, Jacob, Ben, Morris, Shaine A |
| Zdroj: |
Circulation (Ovid); November 2021, Vol. 144 Issue: Supplement 1 pA12192-A12192, 1p |
| Abstrakt: |
Introduction:Arterial tortuosity syndrome (ATS) is an ultra-rare arteriopathy caused by pathogenic biallelic variants in SLC2A10leading to tortuosity, elongation, and dilation of vessels, and pulmonary artery (PA) stenosis (Fig 1). No studies to date have evaluated the progression of cardiovascular (CV) features, including aortic root (AR) and ascending aorta (AA) dilation.Hypothesis:We hypothesize AR and AA dilation progress similar to other aortopathies with increase dimensions but stable z-scores in childhood.Methods:A retrospective cohort study of patients at our institution with ATS, defined by homozygous or compound heterozygous SLC2A10mutations with consistent phenotypes, from 2000-2021 was conducted. CV imaging, medications, and interventions were reviewed. AR and AA measurements were collected from echocardiographic reports and z-scores were calculated. Dilation was defined as z-score >+2. Slopes were calculated using mixed linear regression.Results:Six subjects (5 males) aged 1 month-16 years at diagnosis were included. All had AR dilation, 50% had AA dilation, and 50% had main or branch PA stenosis at a given point. CV intervention was only performed in 1 patient who underwent multiple bilateral PA angioplasties and stenting for severe distal branch PA hypoplasia. Three patients were prescribed beta-blockers, of whom one was also prescribed losartan. Figure 2 shows mean slopes for AR and AA changes. No patients had aortic dissection or CV surgery.Conclusions:In conclusion, AR and AA dilation persist in ATS but with stable z-scores similar to other aortopathies. Larger sample size investigations may further elucidate the role of medications in ATS. |
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