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Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease

26 Dec 2023

Abstract excerpt

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...

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PMID: 38148157
DOI: 10.1136/heartjnl-2023-323491

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