Lee Chung-Lin, Lin Shan-Miao, Chen Ming-Ren, Chuang Chih-Kuang, Syu Yu-Min, Chiu Huei-Ching, Tu Ru-Yi, Lo Yun-Ting, Chang Ya-Hui, Lin Hsiang-Yu, Lin Shuan-Pei
Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan.
Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 11221, Taiwan.
J Pers Med. 2022 May 18;12(5):817. doi: 10.3390/jpm12050817.
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 ( = 0.021). The peak pressure gradient decreased from 38.4 to 25.3 mmHg ( = 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.
威廉姆斯综合征（WS）是一种由7号染色体q11.23微缺失引起的罕见遗传疾病。心血管缺陷（CVD）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），其与分支肺动脉狭窄（PS）类似会自发恢复。最近，诸如WS中SVAS病情改善而非恶化等传统观念受到了挑战。本研究全面回顾了30例经分子诊断为WS患者的病历。我们于1999年1月至2021年12月在台北马偕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转归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例患者中，最常见的心血管病变是SVAS（50.0%），其次是分支PS（36.7%）。在随访期间，重度SVAS病情加重（P = 0.021）。分支PS患者的峰值压力梯度从38.4 mmHg降至25.3 mmHg（P = 0.001）。在WS患者中，重度SVAS患者病情随时间恶化，而分支PS患者可自行改善。对于出现分支PS的WS患者，无需进行特定疾病干预。
