Abstract：
Supravalvular aortic stenosis (SVAS) has been well described in Williams-Beuren Syndrome and non-syndromic elastin (ELN) mutations. Non-syndromic ELN mutations are inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity. ELN haploinsufficiency leads to progressive arteriopathy, typically affecting the aortic sinotubular junction. Multi-level pulmonary stenosis has also been reported and biventricular obstruction may portend a worse prognosis. Fetal presentation of ELN mutation with SVAS has not been previously reported in the literature. We present a case of fetal diagnosis of SVAS and multi-level pulmonary stenosis in a family with a known pathogenic ELN mutation (Exon 6, c.278del [p.Pro93Leufs*29]). On the fetus\' initial fetal echo, there was only mild flow acceleration through the aortic outflow tract, however, she went on to develop progressive bilateral obstruction. In the early post-natal period, the child was clinically asymptomatic and showed similar mild SVAS and mild valvar and supravalvular pulmonary stenosis. Our case highlights the need for serial monitoring of fetuses with suspected or confirmed ELN arteriopathy.
摘要：
在Williams-Beuren综合征和非综合征性弹性蛋白（ELN）突变中已经很好地描述了瓣上主动脉瓣狭窄（SVAS）。非综合征性ELN突变以常染色体显性遗传模式遗传，具有不完全的外显率和可变的表达能力。ELN单倍体功能不全导致进行性动脉病变，通常影响主动脉窦管交界处。还报道了多级肺动脉狭窄，双心室梗阻可能预示着预后较差。先前在文献中没有报道过具有SVAS的ELN突变的胎儿呈递。我们介绍了一个具有已知致病性ELN突变的家庭中SVAS和多级肺动脉狭窄的胎儿诊断病例（Exon6，c.278del[p。Pro93Leufs*29])。在胎儿最初的胎儿回声上，只有轻微的血流加速通过主动脉流出道,然而,她继续发展为渐进的双边阻塞。在产后早期，该患儿在临床上无症状,表现出类似的轻度SVAS和轻度瓣膜和瓣膜上肺动脉狭窄.我们的病例强调需要对疑似或确诊的ELN动脉病变的胎儿进行连续监测。
