This study aimed to determine the prevalence of dilation and abnormal elastic properties of aortic root in first-degree relatives (FDRs) of bicuspid aortic valve (BAV) patients.
Background
Evidence indicates that BAV is a genetic disorder. Although FDRs of affected individuals have an 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 control subjects using 2-dimensional echocardiography.
Results
The prevalence of aortic root dilation was 32% in FDRs and 53% in BAV patients, whereas all control subjects showed normal aortic dimensions (p < 0.001). The FDRs and BAVs had significantly lower aortic distensibility (1.7 ± 1.4 × 10−3mm Hg and 1.4 ± 2.0 × 10−3mm Hg vs. 2.5 ± 1.6 × 10−3mm Hg, p < 0.001) and greater aortic stiffness index (26.7 ± 25.8 and 55.9 ± 76.8 vs. 18.7 ± 40.1, p = 0.001) compared with control subjects. This difference remained significant in subjects without aortic root dilation or hypertension (p = 0.002 and p = 0.004, respectively).
Conclusions
The aortic root is functionally abnormal and dilation 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.
Key Words
aorta
echocardiography
genetics
valves
Abbreviations and Acronyms
AVA
aortic valve area
BAV
bicuspid aortic valve
FDR
first-degree relative
Cited by (0)
This study was supported by National Institutes of Health National Center for Research Resources General Clinical Research Center Grant M01-RR00425, and Save A Heart Foundation, Cedars-Sinai Medical Center, Los Angeles, California.
