Mitral valve prolapse and aortic dilatation in the fragile X syndrome.
Four patients with the fragile X syndrome including 3 males and one woman, were evaluated for cardiological abnormalities. One patient had an obvious murmur. All 4 were shown to have mitral valve prolapse by echocardiography. Two male patients also demonstrated mild dilatation of the ascending aorta. We recommend thorough cardiological evaluations of all fragile X patients.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D001018:Aortic Diseases / Q000150:complications* / Q000473:pathology; D004108:Dilatation, Pathologic; D004452:Echocardiography; D005600:Fragile X Syndrome / Q000150:complications*; D006801:Humans; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications* / Q000175:diagnosis; D012729:Sex Chromosome Aberrations / Q000150:complications*