New to MyHealth?
Manage Your Care From Anywhere.
Access your health information from any device with MyHealth. You can message your clinic, view lab results, schedule an appointment, and pay your bill.
ALREADY HAVE AN ACCESS CODE?
DON'T HAVE AN ACCESS CODE?
NEED MORE DETAILS?
MyHealth for Mobile
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study. European heart journal Le Tourneau, T., Le Scouarnec, S., Cueff, C., Bernstein, D., Aalberts, J. J., Lecointe, S., Mérot, J., Bernstein, J. A., Oomen, T., Dina, C., Karakachoff, M., Desal, H., Al Habash, O., Delling, F. N., Capoulade, R., Suurmeijer, A. J., Milan, D., Norris, R. A., Markwald, R., Aikawa, E., Slaugenhaupt, S. A., Jeunemaitre, X., Hagège, A., Roussel, J. C., Trochu, J. N., Levine, R. A., Kyndt, F., Probst, V., Le Marec, H., Schott, J. J. 2017Abstract
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.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. Valvular abnormalities were similar in the four families, in adults and young patients from early childhood suggestive of a developmental disease. In addition, mitral valve lesions worsened over time as encountered in degenerative conditions. Polyvalvular involvement was frequent in males and non-diagnostic forms frequent in females. Overall survival was moderately impaired in men (P?=?0.011). Cardiac surgery rate (mainly valvular) was increased (33.3?±?9.8 vs. 5.0?±?4.9%, P?
View details for DOI 10.1093/eurheartj/ehx505
View details for PubMedID 29020406