Elastin mutation and cardiac disease

Characterization of the molecular basis of structural cardiac disease inclu des elucidating the pathogenesis of certain vascular disease by demonstrati ng mutations of the Elastin gene as the cause of familial supravalvular aor tic stenosis (SVAS) and Williams' syndrome (WS). Defining the etiology of S VAS has clinical implications in terms of prenatal and presymptomatic diagn osis and possible earlier intervention with medical therapy. This review co nsiders the evidence relating Elastin mutations to SVAS and WS and outlines the possible mechanisms by which these mutations give rise to cardiac dise ase. Finally, the implications which Elastin mutation identification has on current clinical practice and future research directions are considered.