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Published online: 2023-01-14
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X-linked myxomatous valvular dystrophy in patient with a novel mutation in FLNA gene

Agnieszka Madej-Pilarczyk1, Dorota Piekutowska-Abramczuk1, Beata Kucińska2, Mariusz Furmanek3, Anna Gwiazda3, Elżbieta Ciara1, Krystyna H Chrzanowska1, Bożena Werner2
DOI: 10.33963/KP.a2023.0017
·
Pubmed: 36640296
Affiliations
  1. Department of Medical Genetics, The Children’s Memorial Health Institute, Warszawa, Poland
  2. Department of Pediatric Cardiology and General Pediatrics, Medical University of Warsaw, Warszawa, Poland
  3. Department of Pediatric Radiology, Medical University of Warsaw, Warszawa, Poland

open access

Online first
Clinical vignette
Published online: 2023-01-14

Abstract

Not available

Abstract

Not available
Get Citation
About this article
Title

X-linked myxomatous valvular dystrophy in patient with a novel mutation in FLNA gene

Journal

Kardiologia Polska (Polish Heart Journal)

Issue

Online first

Article type

Clinical vignette

Published online

2023-01-14

Page views

31

Article views/downloads

19

DOI

10.33963/KP.a2023.0017

Pubmed

36640296

Authors

Agnieszka Madej-Pilarczyk
Dorota Piekutowska-Abramczuk
Beata Kucińska
Mariusz Furmanek
Anna Gwiazda
Elżbieta Ciara
Krystyna H Chrzanowska
Bożena Werner

References (5)
  1. 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.
  2. Tessler I, Reshef N, Shpitzen S, et al. Mitral valve prolapse: From new mechanisms to diagnostic challenges. Kardiol Pol. 2022; 80(9): 891–896.
  3. 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.
  4. 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.
  5. 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.

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