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