Abstract
Williams-Beurer syndrome is an unusual genetic alteration associated with congenital heart defects. We present the capabilities of three-dimensional echocardiography in the study of the cardiopathy associated with this syndrome.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging*
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Abnormalities, Multiple / genetics
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Adult
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Aortic Stenosis, Supravalvular / diagnostic imaging
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Consanguinity
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Echocardiography, Three-Dimensional*
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Echocardiography, Transesophageal*
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Face / abnormalities
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Female
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Heart Defects, Congenital / complications
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Heart Defects, Congenital / diagnostic imaging*
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Humans
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Intellectual Disability
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Mitral Valve Insufficiency / diagnostic imaging
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Syndrome