Abstract
Characterization of the molecular basis of structural cardiac disease includes elucidating the pathogenesis of certain vascular disease by demonstrating mutations of the Elastin gene as the cause of familial supravalvular aortic stenosis (SVAS) and Williams' syndrome (WS). Defining the etiology of SVAS has clinical implications in terms of prenatal and presymptomatic diagnosis and possible earlier intervention with medical therapy. This review considers the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac disease. Finally, the implications which Elastin mutation identification has on current clinical practice and future research directions are considered.
Similar content being viewed by others
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Chowdhury, T., Reardon, W. Elastin Mutation and Cardiac Disease. Pediatr Cardiol 20, 103–107 (1999). https://doi.org/10.1007/s002469900415
Published:
Issue Date:
DOI: https://doi.org/10.1007/s002469900415