R. Thomas Collins II, Verena Gravenhorst, Gilles Faury, Joanna Kwiatkowska, Christian E. H. Schmelzer, Heike Schneider, Anna Waldoch, Rainer Pankau
University of Kentucky College of Medicine. University Medical Center and Georg-August-University Göttingen. Université Grenoble. Medical University of Gdańsk. Fraunhofer Institute for Microstructure of Materials and Systems. University Medical Center Schleswig-Holstein and Christian-Albrechts-University.
United States, Germany, France and Poland
Journal of the American Heart Association
J Am Heart Assoc 2024;
DOI: 10.1161/JAHA.124.036997
Abstract
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.
Category
Segmental Pulmonary Arterial Disease
Genetic Factors Associated with Pulmonary Vascular Disease
Review Articles Concerning Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes