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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|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1216660 | PMC |
| http://dx.doi.org/10.1136/hrt.61.3.289 | DOI Listing |
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