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In 1961 and 1962, Williams et al and Beuren et al reported a combination of cardiovascular lesions including supravalvular aortic stenosis (SVAS) and pulmonary artery stenosis (PAS) as features of mental and growth retardation in infants or children (Williams–Beuren syndrome (WBS) or Williams syndrome (WS)).1 2 Adult WS has subsequently become well known, but there is still little information on the long-term course. More than half of adults with WS are reported to be obese and 63% over the age of 18 years are hypertensive. Sudden death related to coronary sclerosis with ventricular outflow obstruction has been reported in children3 but not in adults.
The haploinsufficiency of the elastin gene at 7q11.23 has been implicated in vascular abnormalities in WS.4 The disruption of the elastin gene in adult WS is accompanied by a paradoxical reduction in arterial stiffness with wall thickening and fragmented elastic laminae,5 and the reduced elastin in arterial walls leads to increased proliferation of arterial smooth muscle cells.6 Here, we report an autopsy case of a 72-year-old woman with WS showing segmental stenosis downstream of the bifurcations of the multiple large arteries. To our knowledge, this patient is the oldest person with WS to have undergone autopsy with unique findings of short stature, small brain and …