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You are here: Contents > 2006 > Volume 15 Number 3 May 2006 > AORTIC VALVE DISEASE > Bilateral Semilunar Valve Disease in a Child with Partial Deletion of the Williams-Beuren Syndrome Region is Associated with Elastin Haploinsufficiency

Bilateral Semilunar Valve Disease in a Child with Partial Deletion of the Williams-Beuren Syndrome Region is Associated with Elastin Haploinsufficiency

Robert B. Hinton, Jr.1, Gail H. Deutsch2, Jeffrey M. Pearl3, Holly H. Hobart4, Colleen A. Morris4, 

D. Woodrow Benson1
Divisions of 1Cardiology, 2Pathology and 3Cardiothoracic Surgery, Cincinnati ChildrenÕs Hospital, Cincinnati, Ohio, 4Division of Human Genetics, University of Nevada School of Medicine, Las Vegas,
Nevada, USA

Elastin is an extracellular matrix protein that is the primary component of elastic fibers, and is expressed in the great vessels as well as the semilunar and atrioventricular valves. Elastin haploinsufficiency, resulting from mutation or deletion of the elastin gene, is an important clinical problem that is typically characterized by arteriopathy. Herein is described a patient with elastin haploinsufficiency



due to partial deletion of the Williams-Beuren syndrome region, resulting in bilateral semilunar valve disease and arteriopathy. Histochemical analysis of the aortic valve revealed decreased and disorganized elastin with loss of the normal trilaminar cusp organization. These findings suggest that elastin has a role in the pathogenesis of semilunar valve disease.
The Journal of Heart Valve Disease 2006;15:352-355

Bilateral Semilunar Valve Disease in a Child with Partial Deletion of the Williams-Beuren Syndrome Region is Associated with Elastin Haploinsufficiency

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