[Williams syndrome].
Williams syndrome (WS) is a malformation syndrome characterized by cardiovascular disease (supravalvular aortic stenosis, peripheral pulmonary stenosis), facial dysmorphism and growth/developmental delay, and now is known to be caused by deletion of elastin gene and other contiguous genes at chromosome 7. Sudden death has been reported in more than 25 patients with WS so far. Bird, et al (1996) reported 10 sudden death cases, 6 of which were associated with cardiac catheterization. Wessel, et al (2004) estimated the incidence of sudden death to be around 1/1000 patient years. Clinical and pathological findings in sudden death patients suggest that coronary artery stenosis, ventricular hypertrophy and myocardial ischemia are risk factors for sudden death in WS.
Division of Medical Genetics, Saitama Children's Medical Center.
Hirofumi
H
Ohashi
D002675:Child, Preschool; D003645:Death, Sudden; D016757:Death, Sudden, Cardiac; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018980:Williams Syndrome / Q000503:physiopathology*