Prevalence of mitral-valve prolapse in the Stickler syndrome
Article first published online: 3 JUN 2005
Copyright © 1986 Wiley-Liss, Inc., A Wiley Company
American Journal of Medical Genetics
Volume 24, Issue 3, pages 387–392, July 1986
How to Cite
Liberfarb, R. M., Goldblatt, A., Opitz, J. M. and Reynolds, J. F. (1986), Prevalence of mitral-valve prolapse in the Stickler syndrome. Am. J. Med. Genet., 24: 387–392. doi: 10.1002/ajmg.1320240302
- Issue published online: 3 JUN 2005
- Article first published online: 3 JUN 2005
- Manuscript Revised: 16 SEP 1985
- Manuscript Received: 18 AUG 1983
- connective tissue disorders;
- mitral-valve prolapse;
- Stickler syndrome;
An increased prevalence of mitral-valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral-valve prolapse by ausculation and two-dimensional echocardiography. The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, sensorineural hearing loss, eye defects, and a family history of Stickler syndrome. Twenty-six patients (45.6%) had mitral-valve prolapse, including 11 of 22 females (50.0%) and 15 of 35 males (42.9%). The age range of our study population was 4 to 60 years. Prevalence of mitral-valve prolapse did not increase with age. Nine patients (34.6% of those with mitral-valve prolapse) had the click-murmur syndrome; only one of them was symptomatic.
Because of the growing list of complications associated with mitral-valve prolapse, all patients with Stickler syndrome should be evaluated by auscultation, electrocardiogram, and echocardiography. Those with mitral-valve prolapse should be advised to have periodic follow-up and to instruct physicians caring for them of their need for antibiotic prophylaxis with certain surgical procedures.