Assessment of bicuspid aortic valve phenotypes and associated pathologies: A transesophageal echocardiographic study.

OBJECTIVE: We investigated the frequency of different bicuspid aortic valve disease (BAV) phenotypes,the associated valvular pathologies, and the aortopathy phenotypes, using 2-dimensional (2D) transthoracic, 2D transesophageal echocardiography (TEE) and 3-dimensional (3D) TEE.

METHODS: A total of 154 patients with BAV were included. Five BAV phenotypes were detected. To better define valvular pathologies, binary classifications of BAV were used: BAV with antero-posterior commisural line (BAV-AP) and right-left commissural line (BAV-RL). Aortopathy phenotype was classified according to the involved tract(s).

RESULTS: Of the patients, 53.2% had type 1, 16.2% type 2, 15.6% type 3, 1.3% type 4, and 13.6% had type 5 BAV. The prevalence of BAV-AP and BAV-RL was 68.2% and 31.8%, respectively. No difference was detected with respect to aortic regurgitation between BAV-AP and BAV-RL (p=0.9), but the BAVRL group had an increased propensity to have a stenotic aortic valve (p=0.003). The indexed aortic diameter was larger in BAV-AP cases than BAV-RL at the sinus of Valsalva (p=0.008). In patients with dilatation of the root and tubular portion, a predominance of BAV-AP versus BAV-RL was observed (85% vs 15%). A markedly low prevalence of the root phenotype (3.2%) was observed. In 90.1% of the patients, 2D TEE was sufficient to classify BAV phenotypes; further 3D imaging was needed in 9.9% of the cases.

CONCLUSION: There may be racial differences in the frequency of valvular and aortopathy phenotypes in patients with BAV. BAV phenotypes differ with respect to aortic stenosis and aortopathy phenotypes. TEE may have good diagnostic utility in differentiating BAV phenotypes.