Abstract：
Williams syndrome (WS) is a rare genetic disorder caused by the microdeletion of chromosome 7q11.23. Cardiovascular defects (CVDs) are the leading causes of morbidity and mortality in patients with WS. The most common CVD in patients with WS is supravalvular aortic stenosis (SVAS), which recovers spontaneously similar to branch pulmonary stenosis (PS). Recently, conventional beliefs, such as SVAS improving rather than worsening in WS, have been challenged. This study thoroughly reviews the medical records of 30 patients with a molecular diagnosis of WS. We followed up these patients at Taipei MacKay Memorial Hospital from January 1999 to December 2021. The long-term outcomes of cardiovascular lesions as well as the change in peak pressure gradient in obstructive cardiovascular lesions over time were studied. Among these 30 patients, the most common cardiovascular lesion was SVAS (50.0%), followed by branch PS (36.7%). During the follow-up period, severe SVAS was aggravated (p = 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg (p = 0.001) in patients with branch PS. Among patients with WS, those with severe SVAS deteriorated over time, whereas those with branch PS improved on their own. In patients with WS who presented with branch PS, no disease-specific intervention was needed.
摘要：
威廉姆斯综合征（WS）是一种罕见的遗传性疾病，由染色体7q11.23的微缺失引起。心血管缺陷（CVDs）是WS患者发病和死亡的主要原因。WS患者最常见的CVD是主动脉瓣上狭窄（SVAS），自发恢复类似于分支肺动脉狭窄（PS）。最近,传统信仰,例如SVAS在WS中改善而不是恶化，受到了挑战。这项研究彻底回顾了30例分子诊断为WS的患者的医疗记录。我们于1999年1月至2021年12月在台北麦凯纪念医院对这些患者进行了随访。研究了心血管病变的长期结局以及阻塞性心血管病变的峰值压力梯度随时间的变化。在这30名患者中，最常见的心血管损害是SVAS（50.0%），其次是分行PS(36.7%)。在后续期间,严重SVAS加重(p=0.021).分支PS患者的峰值压力梯度从38.4降至25.3mmHg（p=0.001）。在WS患者中，那些患有严重SVAS的人随着时间的推移而恶化，而那些有分支PS的人自己提高了。在出现分支PS的WS患者中，不需要疾病特异性干预.
