Valvular & structural heart disease
Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease
Authors' conclusion
The patients with FLNA variants present frequent aortic valve disease and worse outcomes. Bicuspid aortic valve is more frequent in patients carrying the FLNA-MVD variants.
Study context
- Population
- Members of 4 FLNA-MVD families4 FLNA-MVD families
- Participants
- 262 members
- Exposure
- FLNA variant carriers vs non-carrier relatives
- FLNA+n = 79
- Outcome
- Aortic valve and root involvement; outcomes: aortic valve surgery or all-cause mortality
Methodological detailsEchocardiography in 185; histology in 3 explanted aortic valves
- Echocardiography in 185; histology in 3 explanted aortic valves
Main finding
As reported in the abstract
Aortic valve alterations
P < 0.001
Observational data: associations, not effects.
Further findings
Bicuspid aortic valve
P = 0.03
Transvalvular mean gradient
P = 0.02
Overall survival
P = 0.36
Events
| Outcome | FLNA+ | FLNA- | P value |
|---|---|---|---|
| Aortic valve surgery | 8 | 0 | P < 0.001 |
Sinuses of Valsalva and sinotubular junction diameters
- Enlarged in FLNA+
- all p<0.05
Survival by sex (subgroup)
- Tended to be impaired in FLNA+ men
- P = 0.06
- Not impaired in FLNA+ women
- P = 0.71
- Interaction P=0.15
Histology of explanted aortic valves
- Myxomatous remodelling with immune cell infiltration
Original publication
Filamin A heart valve disease as a genetic cause of inherited bicuspid and tricuspid aortic valve disease. Heart. Published 26 December 2023. doi:10.
Summarised from the published abstract; every number is checked against it