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Cardiac abnormalities in the fragile X syndrome.
  1. N Sreeram,
  2. C Wren,
  3. M Bhate,
  4. P Robertson,
  5. S Hunter
  1. Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne.

    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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