Abstract 17361: Phenotype of the Aortic Valve in Patients With Filamin-A Mutations: Echocardiographic Features and Clinical Outcomes

Autor: Romain Capoulade, Caroline Cueff, Nicolas Piriou, Claire Toquet, Stéphanie Blandin, Guillaume Guimbretiere, Toon Omen, Jan J Aalberts, Daniel Berstein, Jonathan A Berstein, Jean-Noel Trochu, Herve Le Marec, Jean Merot, Jean-Jacques Schott, Thierry Le Tourneau
Rok vydání: 2018
Předmět:
Zdroj: Circulation. 138
ISSN: 1524-4539
0009-7322
Popis: Background: Filamin-A ( FLNA ) mutations have been associated with the development of mitral valve prolapse and a unique mitral valve features described as a paradoxical restrictive leaflets motion in diastole has been recently described using a comprehensive echocardiographic screening. Polyvalvular diseases have also been reported in these patients, especially affecting the aortic valve. Objectifs: The objective of this study was to perform a comprehensive echocardiographic analysis of the aortic valve (AV) and the proximal aortic root of patients with FLNA mutations, and assess the impact of the aortic disease on outcomes. Methods: We included in this analysis 256 subjects (42±22 years, 136 men, 76 mutated: FLNA+) with confirmed genetic status, from 5 FLNA families. Comprehensive echocardiographic characterization of the aortic valve and the proximal aortic root, including the measurement of the aortic annulus, sinuses of Valsalva, sinotubular junction and ascending aorta, was performed in FLNA+ patients vs control relatives. Results: Overall, 47 subjects (18%) presented an aortic valve alteration: 40 (53%) of FLNA+ compared to 7 (4%) FLNA- subjects (p2 ; p=0.02), sinuses of Valsalva (17.8±2.5 vs 16.2±1.9 mm/m 2 ; p2 ; p Conclusion: The FLNA -mutated patients presented aortic valve disease more frequently, including a higher prevalence of bicuspid valve, stenosis, and regurgitation owing to either cusp prolapsed or restrictive motion. This unique features described in this population was associated with worse clinical outcomes, especially in FLNA+ males. Management and decision making should be done according to the features of these patients with polyvalvular diseases
Databáze: OpenAIRE
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