title: Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation.
abstract: Polyvalvar myxomatous valve degeneration is a clinical pathology rarely encountered during cardiac anesthesia, but, when present, most commonly occurs in the context of a connective tissue disorder. Filamin A mutations have begun to be recognized as a source of progressive myxomatous mitral and tricuspid valve degeneration. These lesions can be diagnosed by echo, but their clinical presentation can be equivocal. We present a patient with significant echocardiographic findings of mitral and tricuspid valvar regurgitation, aortic dilatation, and intraoperative findings of aortic ectasia. In our case, a detailed family history led to a preoperative echocardiogram revealing myxomatous mitral and tricuspid valve degeneration with significant regurgitation and aortic dilatation. Genetic evaluation led to the diagnosis of a Filamin A mutation. Pre- and postrepair echocardiographic assessments of valvar function played a key role in the management of this patient. Continued surveillance of his aortic dilation and evaluation of postrepair valve function warrants close follow-up with a high likelihood for further surgical intervention.
authors.affiliation: Emory University School of Medicine, Atlanta, GA, USA Children's Healthcare of Atlanta at Egleston, Atlanta, GA, USA phma@emory.edu.
authors.forename: Peter H
authors.initials: PH
authors.lastname: Ma
authors.affiliation: Emory University School of Medicine, Atlanta, GA, USA Children's Healthcare of Atlanta at Egleston, Atlanta, GA, USA.
authors.forename: Ritu
authors.initials: R
authors.lastname: Sachdeva
authors.affiliation: Emory University School of Medicine, Atlanta, GA, USA Children's Healthcare of Atlanta at Egleston, Atlanta, GA, USA.
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Wilson
authors.affiliation: Emory University School of Medicine, Atlanta, GA, USA Children's Healthcare of Atlanta at Egleston, Atlanta, GA, USA.
authors.forename: Nina A
authors.initials: NA
authors.lastname: Guzzetta
mesh_terms: D000293:Adolescent; D004452:Echocardiography; D064448:Filamins / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D006338:Heart Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008297:Male; D008945:Mitral Valve Prolapse / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009232:Myxoma / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology
chemical_list: D064448:Filamins
keywords: cardiac anesthesia; congenital heart disease; genetic traits; intraoperative transesophageal echocardiography; mitral valve; transesophageal echocardiography