Department of Pediatrics, Division of Cardiology University of Kentucky College of Medicine Lexington KY USA.
Department of Pediatric Cardiology, Intensive Care Medicine and Neonatology University Medical Center, Georg-August-University Göttingen Göttingen Germany.
J Am Heart Assoc. 2024 Oct;13(19):e036997. doi: 10.1161/JAHA.124.036997. Epub 2024 Sep 18.
Williams-Beuren syndrome (WBS) is a congenital multisystem disorder affecting the cardiovascular, central nervous, and musculoskeletal systems. Cardiovascular abnormalities, which consist principally of vascular stenoses, occur in approximately 80% of people with WBS and are the predominant cause of early morbidity and mortality. Supravalvar aortic stenosis and peripheral pulmonary artery stenosis are the most common stenotic lesions in WBS, though other stenoses often occur, including stenoses of the coronary arteries. Approximately one-third of people with WBS undergo cardiovascular interventions. The risk of sudden cardiac death is markedly higher than the general population, with most events occurring in the periprocedural period. Because of the rarity of WBS and the often-complex nature of the cardiovascular abnormalities, most physicians, including cardiologists, have limited experience in caring for patients with WBS. Further, heretofore, clinical cardiovascular management guidelines based on international expert consensus have not been available. This state-of-the-art review provides a comprehensive synopsis of the cardiovascular abnormalities in WBS and presents clinical management guidelines based on the authors' expert consensus.
威廉姆斯-贝伦综合征(WBS)是一种先天性多系统疾病,影响心血管、中枢神经系统和肌肉骨骼系统。心血管异常约发生在 80%的 WBS 患者中,主要由血管狭窄引起,是导致早期发病率和死亡率的主要原因。WBS 最常见的狭窄病变是升主动脉瓣上狭窄和外周肺动脉狭窄,但也常发生其他狭窄,包括冠状动脉狭窄。约三分之一的 WBS 患者需要进行心血管介入治疗。WBS 患者发生心源性猝死的风险明显高于一般人群,大多数事件发生在围手术期。由于 WBS 较为罕见,且心血管异常通常较为复杂,大多数医生,包括心脏病专家,在治疗 WBS 患者方面经验有限。此外,迄今为止,基于国际专家共识的临床心血管管理指南尚不存在。本综述全面概述了 WBS 的心血管异常,并根据作者的专家共识提出了临床管理指南。