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Patients with a bicuspid aortic valve (BAV) may present with aortic regurgitation requiring valve replacement in young adulthood and a subset of patients manifests with progressive aortic dilation and an increased risk of aortic dissection. However, most patients with a BAV develop significant valve dysfunction only very late in life with aortic stenosis due to superimposed fibrocalcific changes. This late phenotypic presentation has hampered our understanding of possible inheritance patterns of this common congenital condition.
In this issue of Heart, Galian-Gay et al 1 found a BAV on echocardiographic screening in 6.5% of 724 first-degree relatives of 256 BAV patients, consistent with significant heritability although valve morphology was not concordant within families. In addition, 9.6% of relatives with a trileaflet valve were found to have aortic dilation, defined as 1.96 SD greater than expected for age, body size and sex (figure 1). Aortic dilation was more prevalent in patients with arterial hypertension (OR 4.48; CI 95% 2.51 to 7.99; p=0.0001) and valvular regurgitation (OR 5.87, CI 95% 1.37 to 25.16; p=0.025).
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