BACKGROUND Williams-Beuren syndrome (WBS) (Online Mendelian Inheritance in Man #194050) is a rare genetic multisystem disorder resulting from a chromosomal microdeletion at 7q11.23. The condition is characterized by distinct facies, intellectual disability, and supravalvar aortic stenosis. Those with WBS have an increased risk of sudden death, but mechanisms underlying this phenotype are incompletely understood.
CONCLUSIONS Individuals with WBS demonstrate signi cant HRV abnormalities consistent with diminished autonomic reserve. Future studies will be needed to determine the relationship between autonomic dysregulation observed and sudden death risk seen in these patients. (Impact of Elastin Mediated Vascular Stiffness on End Organs; NCT02840448). (J Am Coll Cardiol EP 2022;-:-–-) Published by Elsevier on behalf of the American College of Cardiology Foundation.