{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:13:42Z","timestamp":1777936422348,"version":"3.51.4"},"reference-count":16,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2016,3,22]],"date-time":"2016-03-22T00:00:00Z","timestamp":1458604800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Semin Cardiothorac Vasc Anesth"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.1177\/1089253216640088","type":"journal-article","created":{"date-parts":[[2016,3,22]],"date-time":"2016-03-22T21:55:27Z","timestamp":1458683727000},"page":"240-245","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Longitudinal Echocardiographic Evaluation of an Unusual Presentation of X-Linked Myxomatous Valvular Dystrophy Caused by Filamin A Mutation"],"prefix":"10.1177","volume":"20","author":[{"given":"Peter H.","family":"Ma","sequence":"first","affiliation":[{"name":"Emory University School of Medicine, Atlanta, GA, USA"},{"name":"Children\u2019s Healthcare of Atlanta at Egleston, Atlanta, GA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritu","family":"Sachdeva","sequence":"additional","affiliation":[{"name":"Emory University School of Medicine, Atlanta, GA, USA"},{"name":"Children\u2019s Healthcare of Atlanta at Egleston, Atlanta, GA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth C.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Emory University School of Medicine, Atlanta, GA, USA"},{"name":"Children\u2019s Healthcare of Atlanta at Egleston, Atlanta, GA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nina A.","family":"Guzzetta","sequence":"additional","affiliation":[{"name":"Emory University School of Medicine, Atlanta, GA, USA"},{"name":"Children\u2019s Healthcare of Atlanta at Egleston, Atlanta, GA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2016,3,22]]},"reference":[{"key":"bibr1-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34132"},{"key":"bibr2-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.622621"},{"key":"bibr3-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22346"},{"key":"bibr4-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1093\/cvr\/cvs238"},{"key":"bibr5-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1007\/s12265-011-9308-9"},{"key":"bibr6-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.209"},{"key":"bibr7-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2008.149419"},{"key":"bibr8-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.106.663237"},{"key":"bibr9-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1007\/s12170-008-0082-4"},{"key":"bibr10-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951114000122"},{"key":"bibr11-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1007\/s00392-010-0206-y"},{"key":"bibr12-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1016\/j.athoracsur.2007.03.058"},{"key":"bibr13-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1007\/s10439-011-0442-y"},{"key":"bibr14-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn377"},{"key":"bibr15-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2004.05220.x"},{"key":"bibr16-1089253216640088","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0109-5"}],"container-title":["Seminars in Cardiothoracic and Vascular Anesthesia"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1089253216640088","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1089253216640088","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1089253216640088","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T03:30:16Z","timestamp":1777692616000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1089253216640088"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,22]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1177\/1089253216640088"],"URL":"https:\/\/doi.org\/10.1177\/1089253216640088","relation":{},"ISSN":["1089-2532","1940-5596"],"issn-type":[{"value":"1089-2532","type":"print"},{"value":"1940-5596","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,22]]}}}