title: Cardiac abnormalities in the fragile X syndrome.
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.
authors.affiliation: Department of Paediatric Cardiology, Freeman Hospital, Newcastle upon Tyne.
authors.forename: N
authors.initials: N
authors.lastname: Sreeram
authors.forename: C
authors.initials: C
authors.lastname: Wren
authors.forename: M
authors.initials: M
authors.lastname: Bhate
authors.forename: P
authors.initials: P
authors.lastname: Robertson
authors.forename: S
authors.initials: S
authors.lastname: Hunter
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004452:Echocardiography; D005600:Fragile X Syndrome / Q000150:complications / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000150:complications / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D012729:Sex Chromosome Aberrations / Q000473:pathology*