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X-linked myxomatous valvular dystrophy in patient with a novel mutation in FLNA gene
Affiliations- Department of Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland
- Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warszawa, Poland
- Department of Pediatric Radiology, Medical University of Warsaw, Warszawa, Poland
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Abstract
Abstract
About this articleTitle
X-linked myxomatous valvular dystrophy in patient with a novel mutation in FLNA gene
Journal
Kardiologia Polska (Polish Heart Journal)
Issue
Article type
Clinical vignette
Published online
2023-01-14
Page views
31
Article views/downloads
19
DOI
10.33963/KP.a2023.0017
Pubmed
Authors
Agnieszka Madej-Pilarczyk
Dorota Piekutowska-Abramczuk
Beata Kucińska
Mariusz Furmanek
Anna Gwiazda
Elżbieta Ciara
Krystyna H Chrzanowska
Bożena Werner
References (5)- Kyndt F, Gueffet JP, Probst V, et al. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation. 2007; 115(1): 40–49.
- Tessler I, Reshef N, Shpitzen S, et al. Mitral valve prolapse: From new mechanisms to diagnostic challenges. Kardiol Pol. 2022; 80(9): 891–896.
- Lardeux A, Kyndt F, Lecointe S, et al. Filamin-a-related myxomatous mitral valve dystrophy: genetic, echocardiographic and functional aspects. J Cardiovasc Transl Res. 2011; 4(6): 748–756.
- Aalberts JJJ, van Tintelen JP, Oomen T, et al. Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse. Am J Med Genet A. 2014; 164A(1): 113–119.
- Ma PH, Sachdeva R, Wilson EC, et al. Longitudinal echocardiographic evaluation of an unusual presentation of x-linked myxomatous valvular dystrophy caused by filamin a mutation. Semin Cardiothorac Vasc Anesth. 2016; 20(3): 240–245.
