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CLINICAL RESEARCH: CONGENITAL HEART DISEASE

Aortopathy Is Prevalent in Relatives of Bicuspid Aortic Valve Patients

Simon Biner, MD^_*,, Asim M. Rafique, MD^_*, Indraneil Ray, MD^_*, Olivera Cuk, MD^_*, Robert J. Siegel, MD^_* and Kirsten Tolstrup, MD^_*,_*

^_* Heart Institute, Cedars-Sinai Medical Center, Los Angeles, California
Department of Cardiology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel

Manuscript received November 30, 2008; revised manuscript received February 5, 2009, accepted March 3, 2009.

^_* Reprint requests and correspondence: Dr. Kirsten Tolstrup, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Room 5624, Los Angeles, California 90048 (Email: tolstrupk{at}cshs.org).

Objectives: 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 x 10^–3 mm Hg and 1.4 ± 2.0 x 10^–3 mm Hg vs. 2.5 ± 1.6 x 10^–3 mm 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

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