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

ABSTRACT:

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 valve apparatus in comparison with control relatives. In this X-linked disease valves lesions were severe in men and moderate in women. Most men had classical features of mitral valve prolapse (MVP), but without chordal rupture. By contrast to regular MVP, mitral leaflet motion was clearly restricted in diastole and papillary muscles position was closer to mitral annulus

SUBMITTER: Le Tourneau T 

PROVIDER: S-EPMC5905589 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature