Abstract：
BACKGROUND: Williams-Beuren syndrome (WS) is a rare, complex, congenital developmental disorder including cardiovascular manifestations, intellectual disability and a peculiar cognitive and behavior profile. Supravalvular aortic stenosis (SVAS) is the most frequent cardiovascular abnormality in WS children. Data on WS patients in sub-Saharan Africa are scarce. A genetic study is usually required for a definite diagnosis, but genetic testing is often unavailable in developing countries and the combination of a typical clinical phenotype and echocardiographic profile helps to confirm the diagnosis.
METHODS: We report the case of a 5-year-old Ugandan child admitted to a large no profit hospital after he was initially managed as a case of infective endocarditis. A physical examination revealed the typical features of WS. A cardiac echo showed severe SVAS (peak gradient 80 mmHg) with a normal anatomy and function of the aortic valve and mild valvular pulmonary stenosis. The child also had a moderate intellectual disability and a characteristic facies consistent with WS.
CONCLUSIONS: We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.
METHODS: We report the case of a 5-year-old Ugandan child admitted to a large no profit hospital after he was initially managed as a case of infective endocarditis. A physical examination revealed the typical features of WS. A cardiac echo showed severe SVAS (peak gradient 80 mmHg) with a normal anatomy and function of the aortic valve and mild valvular pulmonary stenosis. The child also had a moderate intellectual disability and a characteristic facies consistent with WS.
CONCLUSIONS: We present the first reported case of WS in Uganda. Cardiac echo and a characteristic clinical picture could be enough to exclude more common causes of heart failure (i.e., rheumatic heart disease) and to make the diagnosis even when specific genetic tests are not available.
摘要：
背景：威廉姆斯-贝伦综合征（WS）是一种罕见的，复杂，先天性发育障碍，包括心血管表现，智力障碍和特殊的认知和行为特征。主动脉瓣上狭窄（SVAS）是WS儿童中最常见的心血管异常。撒哈拉以南非洲的WS患者数据很少。基因研究通常需要明确的诊断，但在发展中国家通常无法进行基因检测,典型的临床表型和超声心动图的结合有助于明确诊断.
方法：我们报告了一名5岁的乌干达儿童在最初作为感染性心内膜炎进行治疗后被送往一家大型无利医院的案例。体格检查揭示了WS的典型特征。心脏回声显示严重的SVAS（峰值梯度80mmHg），主动脉瓣的解剖结构和功能正常，瓣膜轻度肺动脉狭窄。该孩子还患有中度智力障碍，并且具有与WS一致的特征相。
结论：我们报告了乌干达首例WS病例。心脏回声和特征性临床表现可能足以排除心力衰竭的更常见原因(即，风湿性心脏病），即使没有特定的基因测试也要做出诊断。
方法：我们报告了一名5岁的乌干达儿童在最初作为感染性心内膜炎进行治疗后被送往一家大型无利医院的案例。体格检查揭示了WS的典型特征。心脏回声显示严重的SVAS（峰值梯度80mmHg），主动脉瓣的解剖结构和功能正常，瓣膜轻度肺动脉狭窄。该孩子还患有中度智力障碍，并且具有与WS一致的特征相。
结论：我们报告了乌干达首例WS病例。心脏回声和特征性临床表现可能足以排除心力衰竭的更常见原因(即，风湿性心脏病），即使没有特定的基因测试也要做出诊断。
