Valvular & structural heart disease
New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study
Authors' conclusion
FLNA-MVD is a developmental and degenerative disease with complex phenotypic expression which can influence patient management. FLNA-MVD has unique features with both MVP and paradoxical restricted motion in diastole, sub-valvular mitral apparatus impairment and polyvalvular lesions in males. FLNA-MVD conveys a substantial lifetime risk of valve surgery in men.
Study context
- Population
- Members of four families with non-syndromic filamin-A (FLNA) mitral valve dystrophy harbouring three different FLNA mutations72 mutated
- Participants
- 246 members
- Exposure
- FLNA mutation carriers vs control relatives
- Mutatedn = 72
- Outcome
- Phenotype of FLNA-MVD and its impact on prognosis
Methodological detailsfamily cohort, four FLNA-MVD families, comprehensive echocardiography
- Family cohort
- Four FLNA-MVD families
- Comprehensive echocardiography
Main finding
As reported in the abstract
Cardiac surgery rate (mainly valvular)
Overall survival moderately impaired in men
P = 0.011
Observational data: associations, not effects.
Parts of this Brief are withheld: the automatic checks could not confirm them against the abstract.
Original publication
New insights into mitral valve dystrophy: a Filamin-A genotype–phenotype and outcome study. Eur Heart J. Published 6 September 2017. doi:10.
Summarised from the published abstract; every number is checked against it