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Heart disease in Williams syndrome
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Williams syndrome is caused by a microdeletion in the chromosomal region 7q11.23. The deleted genes included the elastin gene. The typical vasculopathy consists of progressive supravalvular aortic stenosis and nonprogressive or improving pulmonary artery stenosis. Other lesions may include aortic arch obstructions and involvement of innominate or carotid arteries, localised coarctation, and abnormalities of mitral and aortic valves. The diagnosis can be confirmed by demonstrating hemizygosity for the elastin gene by fluorescence in situ hybridisation (FISH). The cardiovascular manifestations have been described …
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