Chowdhury T, Reardon W
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, 30, Guilford Street, London WC1N 1EH, United Kingdom.
Pediatr Cardiol. 1999 Mar-Apr;20(2):103-7. doi: 10.1007/s002469900415.
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.
结构性心脏病分子基础的特征描述包括通过证明弹性蛋白基因突变是家族性主动脉瓣上狭窄（SVAS）和威廉姆斯综合征（WS）的病因来阐明某些血管疾病的发病机制。确定SVAS的病因在产前和症状前诊断以及可能通过药物治疗进行更早干预方面具有临床意义。本综述考虑了与弹性蛋白突变相关的SVAS和WS的证据，并概述了这些突变导致心脏病的可能机制。最后，考虑了弹性蛋白突变识别对当前临床实践和未来研究方向的影响。
