Cardiac abnormalities in the fragile X syndrome. |
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Authors: | N Sreeram C Wren M Bhate P Robertson and S Hunter |
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Affiliation: | Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne. |
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Abstract: | Twenty three patients with fragile X syndrome underwent cardiovascular assessment. Echocardiography showed dilatation of the aortic root in 12 (52%) and mitral valve prolapse in five (22%), four of whom had an apical mid-systolic click on auscultation. Patients with fragile X syndrome have cardiac defects similar to those seen in other disorders of connective tissue such as Marfan's syndrome and Ehlers-Danlos syndrome. These, and other somatic features, suggest an underlying connective tissue dysplasia. |
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