Williams syndrome in adults

Abstract

There are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent. Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations.

A Case-Control Investigation of the Relationship Between Bicuspid Aortic Valve Disease and Coronary Heart Disease

“…Hypoplastic left heart syndrome, complete atrioventricular canal defect, Ebstein's anomaly, and partial or total anomalous pulmonary venous return. Tetralogy of Fallot, double-outlet right ventricle (Fernandes, et al, 2004), Williams syndrome (Lopez-Rangel et al, 1992), and Down syndrome (Weinhouse et al, 1995) are occasionally associated with bicuspid aortic valve disease. Shone's complex, which is defined by four cardiovascular defects (supravalvular mitral membrane, valvular mitral stenosis with a parachute mitral valve, subaortic stenosis, and aortic coarctation), is rare and forms another association in bicuspid aortic valve disease cases (Popescu et al, 2008).…”

The bicuspid aortic valve and related disorders

“…The frequency of BAV in specimens with complete transposition of great arteries has been found to be only 1%. 53 Hypoplastic left heart syndrome, complete atrioventricular canal defect, Ebstein's anomaly, partial or total anomalous pulmonary venous return, tetralogy of Fallot, double-outlet right ventricle, 54 septal left ventricular diverticulum, 55 Williams syndrome, 56 Down syndrome 57 and annuloaortic ectasia 58 are occasionally associated with BAV. Shone's complex, which is defined by four cardiovascular defects including supravalvular mitral membrane, valvular mitral stenosis with a parachute mitral valve, subaortic stenosis and aortic coarctation, is a rare entity and forms another association in BAV cases.…”

Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

“…Almost every child with WBS shows the typical dysmorphic facies and although these features are often subtle, they tend to become more distinctive with advancing age [10].…”

“…Older children and adults have a more gaunt appearance of the face with a prominent supraorbital ridge and long neck [10]- [12].…”

“…The cardiovascular defect is often progressive requiring surgical repair especially the supravalvar aortic stenosis [4] [10] [11] [13]. Because the elastin protein is an important component of elastic fibers in the arterial wall, any artery may become narrowed.…”