PDF(Pubmed)
Abstract：
Williams syndrome (WS) is characterized by a range of clinical features, including cardiovascular disease, distinctive facial traits, neurobehavioral disorders, and a condition known as transient infantile hypercalcemia. Among these, endocardial calcification represents a non-specific response to severe, etiologically diverse myocardial injuries. In this report, we document a unique case involving an infant with WS who exhibited rapidly progressive arterial stenosis and left ventricular endocardial calcification, associated with a novel heterozygous deletion. While arterial stenosis is the most frequently observed cardiovascular issue in WS, instances of endocardial calcification during infancy are exceedingly rare and have not previously been reported in the context of WS.
摘要：
威廉姆斯综合征（WS）的特点是一系列的临床特征，包括心血管疾病,独特的面部特征，神经行为障碍,和一种称为短暂性婴儿高钙血症的疾病。其中,心内膜钙化代表对严重的非特异性反应，病因学上不同的心肌损伤。在这份报告中,我们记录了一个独特的病例，涉及一名患有WS的婴儿，他表现出快速进行性动脉狭窄和左心室心内膜钙化。与一个新的杂合缺失相关。虽然动脉狭窄是WS中最常见的心血管问题，婴儿期发生心内膜钙化的情况极为罕见,以前在WS中没有报道过.
