Key result
In patients with bicuspid aortic valve, age over 50 years (OR 41.6) and the presence of a raphe (OR 12.8) were independently associated with aortic stenosis, whereas male gender (OR 5.0) predicted aortic regurgitation.
Why the study?
The study was conducted to describe the spectrum of valve function in BAV patients referred to a tertiary care center and to investigate genetic pathways associated with valve degeneration.
Cohort (n=223)
No
Odds Ratio: 41.6 (95% CI 10.3–248.2)
p-value: p=<0.001
Clinical and echocardiographic variables are poorly associated with BAV dysfunction, but distinct genetic pathways (RUNX2 for stenosis, COL1A1/FLNA for regurgitation) may drive the specific degenerative processes.
Associations with age, raphe, and gender plus differential gene expression suggest phenotype-specific BAV mechanisms; hypothesis-generating and needs prospective validation.
BACKGROUND to describe spectrum of valve function in bicuspid aortic valve (BAV) patients referred to a tertiary care center and to investigate genetic pathways associated with valve degeneration. METHODS All consecutive patients with BAV were prospectively included from 2014 to 2018. BAV was defined according to embryologic and Sievers classifications. Clinical and echo variables were compared according to aortic valve function. Aortic valve tissues were collected from BAV patients (n=15) operated for severe aortic stenosis (AS-BAV, n=7) or aortic regurgitation (AR-BAV, n=8). RT-qPCR was performed to compare gene expression level in AS-BAV, AR-BAV and controls corresponding to healthy tricuspid aortic valves collected on human heart explant immediately after transplantation (n=5). RESULTS Out of 223 adults with BAV, mean age 53±17 years, 83% had left-right coronary cusps fusion, 80% Sievers type 1 BAV and 49% aortopathy. Twenty-four patients had normal valve function, 66 patients had AS-BAV, 91 patients had AR-BAV and 40 patient had AR+AS BAV. BAV phenotype did not predict neither AS-BAV nor AR-BAV (all p>0.1). By multivariable analysis, age >50 (41.6[10.3-248.2],p<0.001) and presence of raphe(12.8[2.4-87.4],p<0.001) were significantly associated with AS-BAV and male gender of AR-BAV(5[1.6-16.4], p=0.005). RT-qPCR revealed overexpression of RUNX2 in AS-BAV (17.67±1.83 vs 3.25±0.93, p=0.04), and overexpression of COL1A1 (4.01±0.6vs2.25±0.5,p=0.03) and FLNA (23.31±7.5vs1.97±0.3,p=0.03) in AR-BAV. CONCLUSIONS This prospective study confirmed high prevalence of valve dysfunction at first diagnosis of BAV in a referred population. Clinical and echo variables are poorly associated with BAV dysfunction. The leaking or stenotic processes could be both supported by dysregulation of specific genetic pathways
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Théron et al. (2021) conducted a cohort in Bicuspid aortic valve (n=223). Age >50 years vs. Age ≤50 years was evaluated on Aortic stenosis (AS-BAV) (OR 41.6, 95% CI 10.3-248.2, p=<0.001). In patients with bicuspid aortic valve, age over 50 years (OR 41.6) and the presence of a raphe (OR 12.8) were independently associated with aortic stenosis, whereas male gender (OR 5.0) predicted aortic regurgitation.
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