| Title: |
Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease |
| Authors: |
Delwarde, Constance; Toquet, Claire; Boureau, Anne Sophie; Le Ruz, Robin; Le Scouarnec, Solena; Mérot, Jean; Kyndt, Florence; Bernstein, Daniel; Bernstein, Jonathan A; Aalberts, Jan J J; Le Marec, Hervé; Schott, Jean-Jacques; Roussel, Jean-Christian; Le Tourneau, Thierry; Capoulade, Romain |
| Publisher Information: |
BMJ Publishing Group Ltd |
| Publication Year: |
2024 |
| Collection: |
HighWire Press (Stanford University) |
| Subject Terms: |
Valvular heart disease |
| Description: |
Objective Variants in the FLNA gene have been associated with mitral valve dystrophy (MVD), and even polyvalvular disease has been reported. This study aimed to analyse the aortic valve and root involvement in FLNA -MVD families and its impact on outcomes. Methods 262 subjects (37 (18–53) years, 140 male, 79 carriers: FLNA +) from 4 FLNA -MVD families were included. Echocardiography was performed in 185 patients and histological analysis in 3 explanted aortic valves. The outcomes were defined as aortic valve surgery or all-cause mortality. Results Aortic valve alterations were found in 58% of FLNA + compared with 6% of FLNA − (p |
| Document Type: |
text |
| File Description: |
text/html |
| Language: |
English |
| Relation: |
http://heart.bmj.com/cgi/content/short/110/9/666; http://dx.doi.org/10.1136/heartjnl-2023-323491 |
| DOI: |
10.1136/heartjnl-2023-323491 |
| Availability: |
http://heart.bmj.com/cgi/content/short/110/9/666; https://doi.org/10.1136/heartjnl-2023-323491 |
| Rights: |
Copyright (C) 2024, BMJ Publishing Group Ltd |
| Accession Number: |
edsbas.F04F573D |
| Database: |
BASE |