Supravalvular Aortic Stenosis Elastin Arteriopathy
Supravalvular Aortic Stenosis Elastin Arteriopathy
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DOI：
10.1161/circgenetics.112.962860
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发表时间：
2012-12-01
影响因子：
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通讯作者：
Loviglio, Maria Nicla
中科院分区：
文献类型：
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作者：
Merla, Giuseppe;Brunetti-Pierri, Nicola;Loviglio, Maria Nicla
主动脉瓣上狭窄是一种全身性弹性蛋白(ELN)动脉病变，对瓣膜上动脉的影响不成比例。ELN动脉病可能出现在非综合征状态，也可能出现在综合征状态，如Williams-Beuren综合征。解剖发现包括先天性的主动脉和其他动脉的管腔狭窄，如肺或冠状动脉的分支。考虑到疾病的全身性，建议进行准确的评估，以确定血管受累的程度和程度，并计划适当的干预措施，无论何时发生血流动力学上的重大狭窄都应予以说明。ELN动脉病是一种遗传异质性疾病，其发生是由于染色体7q11.23上ELN基因的单倍性不足，原因是整个染色体区域的微缺失或ELN点突变。有趣的是，在ELN点突变中，存在导致零等位基因的提前终止突变的流行。确定主动脉瓣上狭窄患者的遗传缺陷对于明确诊断、预后和遗传咨询是至关重要的。
Supravalvular aortic stenosis is a systemic elastin (ELN) arteriopathy that disproportionately affects the supravalvular aorta. ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such as Williams–Beuren syndrome. The anatomic findings include congenital narrowing of the lumen of the aorta and other arteries, such as branches of pulmonary or coronary arteries. Given the systemic nature of the disease, accurate evaluation is recommended to establish the degree and extent of vascular involvement and to plan appropriate interventions, which are indicated whenever hemodynamically significant stenoses occur. ELN arteriopathy is genetically heterogeneous and occurs as a consequence of haploinsufficiency of theELNgene on chromosome 7q11.23, owing to either microdeletion of the entire chromosomal region or ELN point mutations. Interestingly, there is a prevalence of premature termination mutations resulting in null alleles among ELN point mutations. The identification of the genetic defect in patients with supravalvular aortic stenosis is essential for a definitive diagnosis, prognosis, and genetic counseling.