Taylor Beecroft

PE-534542-004 REDEFINING RISK IN PEDIATRIC ARRHYTHMOGENIC CARDIOMYOPATHY BY GENOTYPE: VARIANT RECLASSIFICATION MATTERS AND GENOTYPE PREDICTS ARRHYTHMIC OUTCOMES

C. M. Boyd, Bita Salamat, Christopher Spence, Carlos Lodeiro et autres

When targeted gene testing falls short: Case report of a novel SLC4A3 F347S genetic variant associated with short QT syndrome

Chelsea Boyd, Tyler Novy, Taylor Beecroft, Connor Bell et autres

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Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY)

Bita Salamat, Sara B. Stephens, Jolie J. Britt, Taylor Beecroft et autres

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 …

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Clinical and genetic variant re-analysis among pediatric probands undergoing genetic testing for arrhythmia syndromes

Sara B. Stephens, Christopher W. Follansbee, Tyler Novy, Taylor S. Howard et autres

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Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome

Sara B. Stephens, Tyler Novy, Gabrielle N. Spurzem, Benjamin Jacob et autres

Background We aimed to describe the frequency and yield of genetic testing in supravalvar aortic stenosis (SVAS) following negative evaluation for Williams‐Beuren syndrome (WS). Methods and Results This retrospective cohort study included patients with SVAS at our institution who had a negative …

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Vertebral Tortuosity Is Associated With Increased Rate of Cardiovascular Events in Vascular Ehlers‐Danlos Syndrome

Sara B. Stephens, Sherene Shalhub, Nicholas Dodd, Jesse Li et autres

Background Arterial tortuosity is associated with adverse events in Marfan and Loeys‐Dietz syndromes but remains understudied in Vascular Ehlers‐Danlos syndrome. Methods and Results Subjects with a pathogenic COL3A1 variant diagnosed at age <50 years were included from 2 institutions and the GenTAC …

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Evaluating Variation in the Cardiac Management of Children with Hereditary Thoracic Aortic Disease in the United States

Cassie Weyland, Katherine B. Salciccioli, Taylor Beecroft, Emily Soludczyk et autres

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Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age

Lindsay R. Freud, Stephanie Galloway, T. Blaine Crowley, Julie S. Moldenhauer et autres

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Evaluating perinatal and neonatal outcomes among children with vascular Ehlers–Danlos syndrome

Sara B. Stephens, Melissa L. Russo, Sherene Shalhub, Taylor Beecroft et autres

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

Bita Salamat, Andrea Taylor, Sara B. Stephens, Taylor Beecroft et autres

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, and pulmonary artery (PA) stenosis (Fig 1). No studies to date have evaluated the progression of cardiovascular (CV) …

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Extracellular circular RNA profiles in plasma and urine of healthy, male college athletes

Elizabeth Hutchins, Rebecca Reiman, Joseph Winarta, Taylor Beecroft et autres

Circular RNA (circRNA) are a recently discovered class of RNA characterized by a covalently-bonded back-splice junction. As circRNAs are inherently more stable than other RNA species, they may be detected extracellularly in peripheral biofluids and provide novel biomarkers. While circRNA have been …

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Outcomes of Branch Pulmonary Artery Stenosis in Williams Syndrome and Non-Williams Supravalvar Aortic Stenosis

Doaa Shahbah, Shaine A. Morris, Athar M. Qureshi, Christopher A. Caldarone et autres

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