Abstract

Background: Abnormal aorta dilatation and elastic properties have been documented in subjects with bicuspid aortic valve (BAV). 10% of first degree relatives (FDRs) of probands with BAV inherit this valvular abnormality. There is no data regarding the elastic properties of aortic root in family members of BAV subjects. We evaluated the elastic properties in FDRs with normal tricuspid aortic valves. Methods: Systolic and diastolic aortic root dimensions were measured by 2D echocardiography in BAV probands (n=48) their FDRs (n = 49) and controls without structural heart disease matched by age and gender (n=44) at sinuses of Valsalva level. In addition, systolic (SBP) and diastolic blood pressure (DBP) were measured to calculate aortic distensibility, stiffness index and strain. Results: Five subjects (10%) in FDR group were found to have BAV, thus they were included in BAV group. There was no difference in age, gender, SBP and DBP in the three groups. History of hypertension was less prevalent in FDRs when compared to BAV and controls (16% vs 43% and 33%, p=0.03). All three parameters of aortic elastic properties including distensibility ×10 −3 mmHg (1.2±1.0 and 1.5±1.1 vs 2.3±1.5, p<0.001), stiffness index (56.5±76.4 and 29.1±32.5 vs 12.6±9.2, p<0.001) and strain (2.9±2.4and 3.6±2.5 vs 6.0±3.6, p<0.001) were significantly worse in BAV and FDRs compared to controls (Figure ). Conclusions: Aortic root elastic properties are abnormal in the family members of subjects with BAV despite normal tricuspid aortic valve morphology. This finding supports the hypothesis that there is a common genetic basis for BAV and abnormal elastic properties of aorta.

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