Zhou Jie, Liu Dan, Chen Jiao
Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, Sichuan University, Chengdu, China.
Front Pediatr. 2024 Apr 8;12:1324585. doi: 10.3389/fped.2024.1324585. eCollection 2024.
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.
威廉姆斯综合征（WS）具有一系列临床特征，包括心血管疾病、独特的面部特征、神经行为障碍以及一种称为短暂性婴儿高钙血症的病症。其中，心内膜钙化是对严重的、病因多样的心肌损伤的一种非特异性反应。在本报告中，我们记录了一个独特病例，该病例涉及一名患有WS的婴儿，其表现出快速进展的动脉狭窄和左心室心内膜钙化，并伴有一种新的杂合缺失。虽然动脉狭窄是WS中最常见的心血管问题，但婴儿期的心内膜钙化情况极为罕见，此前在WS背景下尚未有过报道。
