title: Prevalence of mitral valve prolapse in Stickler syndrome.
abstract: The prevalence of mitral valve prolapse in Stickler syndrome has been reported to be much higher than in the general population. As a result, it has been recommended that all patients with Stickler syndrome undergo routine echocardiography and have antibiotic prophylaxis prior to surgery. The purpose of this study was to evaluate the prevalence of mitral valve prolapse in a large cohort of UK patients with Stickler syndrome in whom the clinical diagnosis has been confirmed by molecular genetic analysis. Probands and pedigrees were identified from the Vitreoretinal Service database according to previously published criteria. Ophthalmic, skeletal, audiometric, and orofacial features were assessed. Affected individuals underwent a full cardiological examination including auscultation and two-dimensional echocardiography. Mutation analysis of the COL2A1 and COL11A1 genes was carried out. Seventy-eight patients from 25 pedigrees were studied. Mutation analysis confirmed the clinical diagnosis in every pedigree. No patient was found to have clinical evidence of cardiovascular disease and no patient had significant mitral or other valvular prolapse on echocardiography. These data from a large cohort of UK patients with proven Stickler syndrome do not suggest an increased incidence of mitral valve prolapse over and above that found in the general population. Routine echocardiography screening and use of preoperative antibiotics are unnecessary and should be reserved for those individual cases where there is clear clinical indication.
authors.affiliation: Department of Ophthalmology, Vitreoretinal Service, Addenbrooke's Hospital, Cambridge, UK.
authors.forename: Nadeem
authors.initials: N
authors.lastname: Ahmad
authors.forename: Allan J
authors.initials: AJ
authors.lastname: Richards
authors.forename: Helen C
authors.initials: HC
authors.lastname: Murfett
authors.forename: Leonard
authors.initials: L
authors.lastname: Shapiro
authors.forename: John D
authors.initials: JD
authors.lastname: Scott
authors.forename: John R W
authors.initials: JR
authors.lastname: Yates
authors.forename: Joanne
authors.initials: J
authors.lastname: Norton
authors.forename: Martin P
authors.initials: MP
authors.lastname: Snead
mesh_terms: D015331:Cohort Studies; D024043:Collagen Type II / Q000235:genetics; D024161:Collagen Type XI / Q000235:genetics; D003240:Connective Tissue Diseases / Q000150:complications / Q000235:genetics / Q000473:pathology; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D004452:Echocardiography; D015785:Eye Diseases, Hereditary / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D008945:Mitral Valve Prolapse / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D015995:Prevalence; D013577:Syndrome; D006113:United Kingdom / Q000453:epidemiology
chemical_list: D024043:Collagen Type II; D024161:Collagen Type XI; D018076:DNA, Complementary