title: Cleft posterior mitral valve leaflet in an adult with Turner syndrome diagnosed with the use of 3-dimensional transesophageal echocardiography.
abstract: Turner syndrome is a monosomy (45,X karyotype) in which the prevalence of cardiovascular anomalies is high. However, this aspect of Turner syndrome has received little attention outside of the pediatric medical literature, and the entire spectrum of cardiovascular conditions in adults remains unknown. We present the case of a 34-year-old woman who had Turner syndrome. When she was a teenager, her native bicuspid aortic valve was replaced with a mechanical prosthesis. Fifteen years later, during preoperative examination for prosthesis-patient mismatch, severe mitral regurgitation was detected, and a congenital cleft in the posterior leaflet of the mitral valve was diagnosed with use of 3-dimensional transesophageal echocardiography. The patient underwent concurrent mitral valve repair and aortic valve replacement. To our knowledge, this is the first report of a cleft in the posterior mitral valve leaflet as a cardiovascular defect observed in Turner syndrome, and the first such instance to have been diagnosed with the use of 3-dimensional echocardiography.
authors.affiliation: The Cardio Thoracic Center of Monaco, 98004 Monaco. stefanianegrea779@yahoo.com
authors.forename: Stefania Luminita
authors.initials: SL
authors.lastname: Negrea
authors.forename: Clara
authors.initials: C
authors.lastname: Alexandrescu
authors.forename: Michel
authors.initials: M
authors.lastname: Sabatier
authors.forename: Gilles D
authors.initials: GD
authors.lastname: Dreyfus
mesh_terms: D000328:Adult; D018618:Echocardiography, Doppler, Color; D019560:Echocardiography, Three-Dimensional; D017548:Echocardiography, Transesophageal; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000000981:diagnostic imaging* / Q000601:surgery; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D008943:Mitral Valve / Q000000981:diagnostic imaging* / Q000601:surgery; D058386:Mitral Valve Annuloplasty; D008944:Mitral Valve Insufficiency / Q000000981:diagnostic imaging / Q000209:etiology / Q000601:surgery; D011237:Predictive Value of Tests; D016896:Treatment Outcome; D014424:Turner Syndrome / Q000150:complications*