New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

doi:10.1093/eurheartj/ehx505

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Article

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

European heart journal - 14 Apr 2018

Le Tourneau Thierry, Le Scouarnec Solena, Cueff Caroline, Bernstein Daniel, Aalberts Jan J J, Lecointe Simon, Mérot Jean, Bernstein Jonathan A, Oomen Toon, Dina Christian, Karakachoff Matilde, Desal Hubert, Al Habash Ousama, Delling Francesca N, Capoulade Romain, Suurmeijer Albert J H, Milan David, Norris Russell A, Markwald Roger, Aikawa Elena, Slaugenhaupt Susan A, Jeunemaitre Xavier, Hagège Albert, Roussel Jean-Christian, Trochu Jean-Noël, Levine Robert A, Kyndt Florence, Probst Vincent, Le Marec Hervé, Schott Jean-Jacques

Abstract excerpt

Aims: Filamin-A (FLNA) was identified as the first gene of non-syndromic mitral valve dystrophy (FLNA-MVD). We aimed to assess the phenotype of FLNA-MVD and its impact on prognosis. Methods and results: We investigated the disease in 246 subjects (72 mutated) from four FLNA-MVD families harbouring three different FLNA mutations. Phenotype was characterized by a comprehensive echocardiography focusing on mitral...

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Identifiers

PMID: 29020406
DOI: 10.1093/eurheartj/ehx505
PMCID: PMC5905589

Genes

FLNA
MVD
MVP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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