Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation

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.
Source: Seminars in Cardiothoracic and Vascular Anesthesia - Category: Anesthesiology Authors: Tags: Case Report Source Type: research