Objective We aimed to determine the prevalence of dilatation and abnormal elastic properties of aortic root in first degree relatives (FDRs) of bicuspid aortic valve patients. Background Evidence indicates that BAV is a genetic disorder. While FDRs of affected individuals have increased prevalence of BAV, their risk of aortic root abnormalities is unknown. Methods We studied dimensions as well as the elastic properties of the ascending aorta in 48 FDRs with morphologically normal, tricuspid aortic valves, 54 BAV patients, and 45 controls using two-dimensional echocardiography. Results The prevalence of aortic root dilatation was 32% in FDRs and 53% in BAV patients, whereas all controls demonstrated normal aortic dimensions (p<0.001). FDRs and BAVs had significantly lower aortic distensibility (1.7±1.4 and 1.4±2.0 vs. 2.5±1.6×10−3 mmHg, p<0.001) and greater aortic stiffness index (26.7±25.8 and 55.92±76.8 vs. 18.7±40.1, p=0.001) compared to controls. This difference remained significant in subjects without aortic root dilatation or hypertension (p=0.002 and p=0.004, respectively). Conclusions The aortic root is functionally abnormal and dilatation is common (32%) in first degree relatives of patients with BAV. Screening of FDRs by transthoracic 2-dimensional echocardiography should be considered for detection of aortic valve malformation and dilated ascending aorta.

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Background: Bicuspid aortic valve (BAV) and dilated ascending aorta frequently coexist. 10% of first degree relatives (FDRs) of probands with BAV inherit a valvular abnormality, however there is limited data concerning the occurrence of dilated aortic root in families of affected subjects. We evaluated the prevalence of aortic root dilatation among FDRs with a tricuspid aortic valve. Methods: 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). Aortic root was measured at: annulus, sinuses of Valsalva, sino-tubular junction and proximal ascending aorta. The dimensions were indexed by body surface area (BSA). Presence of dilatation was determined using published confidence intervals relating normal aortic diameters to BSA and age. Results: Five subjects (10%) in FDR group were found to have BAV, thus they were included in BAV group. Indexed aortic diameter was significantly different in 3 groups namely BAV>FDR>Control at annulus (2.0±0.3, 1.7±0.2, 1.6±0.1, p<0.001) and sinuses of Valsalva (2.8±0.5, 2.4±0.4, 2.2±0.3, p<0.001) Figure . BAV subjects showed significantly larger dimensions in the ascending aorta compared to FDRs and controls (p<0.001). The prevalence of aortic root dilatation at all levels was 51% in BAV subjects, 25% in FDRs and 0% in controls (p<0.001). Conclusions: There is high prevalence of aortic root dilatation in the FDRs of subjects with BAV despite having normal tricuspid aortic valve. This finding suggests that aortic root dilatation is another phenotypic manifestation of BAV disease that is inherited independent of BAV.

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.