Abstract：
Williams syndrome (WS), is a multisystem disorder occurring in 1 in 10,000 live births with supravalvular aortic stenosis (SVAS) being the most common cardiovascular manifestation. We present the case of a 2.5 years old male, a known case of WS who presented with cognitive delay, a history of right-sided stroke and left hemiplegia. Echocardiography revealed severe SVAS with a gradient of 105 mmHg. The diameter of the Sino tubular junction was 4 mm. Computerized tomography angiogram showed diffuse stenosis of ascending aorta with intraluminal thrombus. At surgery, the ascending aorta was augmented with autologous pericardial patches and end-to-end anastomosis of the proximal and distal aorta completed the reconstruction. The patient was discharged in a stable condition. He presented 6 weeks post-op with a pulsating pseudoaneurysm through the sternal wound. Emergency surgery with the removal of fungal vegetation and reconstruction of the ascending aorta was performed. He expired due to fungal sepsis a week later.
摘要：
威廉姆斯综合征（WS），是一种多系统疾病，在10,000例活产中有1例发生，主动脉瓣上狭窄（SVAS）是最常见的心血管表现。我们介绍了一个2.5岁的男性，一个已知的出现认知延迟的WS病例，右侧中风和左侧偏瘫的病史。超声心动图显示严重的SVAS，梯度为105mmHg。Sino管状接头的直径为4mm。计算机断层扫描血管造影显示升主动脉弥漫性狭窄伴管腔内血栓。在手术中，用自体心包补片扩大升主动脉,近端和远端主动脉的端到端吻合术完成重建.患者病情稳定出院。术后6周，他通过胸骨伤口出现了脉动性假性动脉瘤。进行了去除真菌植被和重建升主动脉的急诊手术。一周后他因真菌败血症而死亡。
