Key result
Bicuspid aortic valve was associated with greater ascending aorta dimensions (P<0.001), increased stiffness (P=0.002), and lower longitudinal strain (P=0.04) compared to tricuspid aortic valve.
Why the study?
Is bicuspid aortic valve and elastin gene polymorphism associated with impaired aortic elasticity and biomolecular alterations?
Observational (n=94)
Is bicuspid aortic valve and elastin gene polymorphism associated with impaired aortic elasticity and biomolecular alterations?
p-value: p=<0.001
In patients with bicuspid aortic valve, there is a significant correlation between elastin gene mutations, increased elastin degradation, and impaired mechanical properties of the aorta.
May support closer aortic surveillance in bicuspid aortic valve; leaves open elastin polymorphism contributions.
Aims: Bicuspid aortic valve (BAV) is associated with aortic wall alterations. We aimed to detect any correlation between aortic elasticity and genetic and biomolecular patterns of elastin. Methods and results: Forty-nine BAV patients (mean age: 38 ± 17.05) were prospectively enrolled. A blood sample was drawn for analysis of a single nucleotide polymorphism of elastin gene (ELN rs2071307) responsible for misfolding of elastin, and for the amount of elastin soluble fragments (ESF) in the plasma. Aortic dimensions and elastic properties were determined by echocardiography, aortic stiffness (AS) by M-mode analysis, and longitudinal strain (LS) of the ascending aorta (AA) by speckle-tracking echocardiography; values of aortic strain were compared with 45 age-matched subjects (mean age: 33 ± 9.67) with tricuspid aortic valve (TAV). BAV patients had greater aortic dimensions [Valsalva sinus (P = 0.004), sinotubular junction (P = 0.013), AA (P < 0.001)] and stiffness (P = 0.002) but lower LS (P = 0.04) than those with TAV. Results from comparisons of mutated genotype patients (AA, n = 10) with heterozygous (GA, n = 21) and wild-types ones (GG, n = 16) revealed that the presence of mutation was associated with increased ESF (P = 0.010 GG vs. GA; P = 0.035 GA vs. AA), larger AA (P = 0.019 GG vs. GA; P = 0.001 GG vs. AA), and lower LS (P = 0.032 GG vs. AA). Patients with a dilated AA showed greater ESF (P < 0.001), greater AS (P = 0.007), and lower LS of the AA (P = 0.002) than those with a normal AA. The same parameters were not significantly different comparing patients with moderate or severe aortic valve disease and patients with less than moderate valve disease. Conclusions: Our results show a close correlation between genetic and biomolecular patterns of elastin and mechanical properties of the aorta in patients with BAV.
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Longobardo et al. (2017) conducted an observational in Bicuspid aortic valve (n=94). Bicuspid aortic valve and ELN rs2071307 mutation vs. Tricuspid aortic valve and wild-type genotype was evaluated on Aortic dimensions, stiffness, and longitudinal strain (p=<0.001). Bicuspid aortic valve was associated with greater ascending aorta dimensions (P<0.001), increased stiffness (P=0.002), and lower longitudinal strain (P=0.04) compared to tricuspid aortic valve.
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