title: Mitral valve diseases in Williams syndrome-case report and review of the literature.
abstract: Williams syndrome is a genetic syndrome involving an unusual facies, short stature, developmental delay and heart defects. There is a genetic marker for this disease. Williams syndrome is frequently associated with congenital heart defects. The most common cardiac diagnoses are supravalve aortic stenosis, supravalve pulmonic stenosis, and arterial hypertension. In contrast, the association of mitral valve prolapse with Williams syndrome is less well defined. We present a case of a 15-year-old girl with Williams syndrome who underwent successful mitral valve repair. Review of the echocardiographic database of our institution over a 10-year period identified 26 other patients with Williams syndrome. Overall, 10 of the 27 children with Williams syndrome had mitral valve disease (37%) including 9 patients with mitral valve prolapse and one with mitral insufficiency. In conclusion, patients with Williams syndrome should be examined for mitral valve disease. Mitral valve repair is feasible and may be considered in the growing child with Williams syndrome.
authors.affiliation: Department of Pediatrics, Penn State Hershey Medical College, Hershey, Pennsylvania 17033, USA.
authors.forename: Prabesh
authors.initials: P
authors.lastname: Bajracharya
authors.forename: Sonal
authors.initials: S
authors.lastname: Bhatnagar
authors.forename: Linda B
authors.initials: LB
authors.lastname: Pauliks
mesh_terms: D000293:Adolescent; D004452:Echocardiography; D005260:Female; D006349:Heart Valve Diseases / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D008944:Mitral Valve Insufficiency / Q000150:complications* / Q000000981:diagnostic imaging; D008945:Mitral Valve Prolapse / Q000150:complications* / Q000000981:diagnostic imaging; D018980:Williams Syndrome / Q000150:complications*