Elastin mutation and cardiac disease.
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.
Chowdhury
T
T
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, 30, Guilford Street, London WC1N 1EH, United Kingdom.
Reardon
W
W
D001024:Aortic Valve Stenosis / Q000235:genetics*; D002648:Child; D002897:Chromosomes, Human, Pair 7; D004252:DNA Mutational Analysis; D004549:Elastin / Q000235:genetics*; D006801:Humans; D007223:Infant; D010641:Phenotype; D018980:Williams Syndrome / Q000235:genetics*