title: Coronary ostium occlusion by coronary cusp displacement in Williams syndrome.
abstract: Williams syndrome is a contiguous gene deletion syndrome resulting from a heterozygous deletion on chromosome 7q11.23, and is characterized by distinctive facial features and supravalvular aortic stenosis (SVAS). This syndrome rarely presents unpredictable cardiac death, and yet, as illustrated in the present case, it is still not possible to predict it, even on close monitoring. We herein describe the case of a 6-year-old Japanese girl with Williams syndrome, who had sudden cardiac collapse due to cardiac infarction after pharyngitis. Cardiac failure followed a critical course that did not respond to catecholamine support or heart rest with extracardiac mechanical support. Although marked coronary stenosis was not present, the left coronary cusp abnormally adhered to the aortic wall, which may synergistically cause coronary ostium occlusion with SVAS. Altered hemodynamic state, even that caused by the common cold, may lead to critical myocardial events in Williams syndrome with SVAS.
authors.affiliation: Departments of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Shiohama
authors.affiliation: Departments of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujii
authors.affiliation: Departments of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Ryota
authors.initials: R
authors.lastname: Ebata
authors.affiliation: Department of Cardiovascular Science and Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Nobusada
authors.initials: N
authors.lastname: Funabashi
authors.affiliation: Department of Cardiovascular Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Goro
authors.initials: G
authors.lastname: Matsumiya
authors.affiliation: Departments of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Yuko Kazato
authors.initials: YK
authors.lastname: Saito
authors.affiliation: Departments of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Fumie
authors.initials: F
authors.lastname: Takechi
authors.affiliation: Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yonemori
authors.affiliation: Department of Diagnostic Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Yukio
authors.initials: Y
authors.lastname: Nakatani
authors.affiliation: Departments of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Shimojo
keywords: Williams syndrome; extracorporeal membrane oxygenation; sudden cardiac collapse; supravalvular aortic stenosis