P250: Racial disparities of VUS results: Pediatric neurodevelopmental disorders

Methods: This retrospective study involves a chart review of 127 Fabry disease patients (114 living and 13 deceased) previously and currently in our clinical care.Measurements of aortic root diameter at the annulus, sinus of Valsalva, sinotubular junction, and ascending aorta are extracted from both magnetic resonance imaging (MRI) and transthoracic echocardiogram (TTE) reports.We use descriptive statistics to determine the prevalences of aortic root dilation and its complications, such as aortic insufficiency, along with the annual rate of change in aortic root diameter and the average age at diagnosis of aortic root dilation.Correlations between aortic root dilation and variables such as age, sex, race, body surface area, blood pressure, genetic variant, and therapy are assessed using chi-squared or Fisher's exact tests.Aortic root dilation is defined as an aortic root diameter measuring above the 95th percentile in normal adults.This is based on recommendations from the American Society of Echocardiography and the American Heart Association.Results: Preliminary analysis of the Fabry disease cohort identified aortic root dilation in at least 4 patients based on imaging (TTE or MRI) at the level of the annulus, sinus of Valsalva, sinotubular junction, or ascending aorta.Of these, 2 patients had imaging evidence of at least mild aortic insufficiency, a common consequence of aortic root dilation.The average age at first detection of aortic dilation was 57 years.Analysis of the prevalence of aortic root dilation in the full cohort is ongoing.Conclusion: These preliminary findings in combination with further analysis of our cohort may indicate that aortic root dilation is a more common cardiac manifestation of Fabry disease than previously recognized.Quantitative analyses for the remainder of the cohort are ongoing and will be presented as available.