Transesophageal echocardiography reveals bicuspid aortic valve phenotypes and associated risks

Abstract Introduction Aortic bicuspid valve (BAV) is the most common congenital heart defect, occurring in 1–2% of the population, with over one-third of patients developing serious complications during their lifetime. According to the Sievers classification, BAV is divided into types 0, 1, and 2, based on the number of raphes. Objective To determine BAV, its phenotypes and associated complications using transesophageal echocardiography (TEE). Methods A retrospective study was conducted using the TEE database from January 2023 to January 2025, identifying 32 patients with BAV. Phenotypes and echocardiographic parameters were analyzed. Results Thirty-two patients with confirmed BAV were included, of whom 20 (62.5%) were male and 12 (37.5%) were female, showing a significant gender difference (p=0.047). The mean age at first diagnosis was 41.9 ± 14.6 years. Regarding BAV type, 15 patients (46.9%) had type 0 and 17 patients (53.1%) had type 1, with no patients classified as type 2. Aortic regurgitation was present in 29 patients (90.6%), while 3 patients (9.4%) had no signs of regurgitation (p0.0001). Among those with regurgitation, 22 patients (68.7%) had mild, 3 patients (9.4%) moderate, and 4 patients (12.5%) moderate-to-severe regurgitation, with a mean grade of 1.3 ± 0.8, corresponding to mild severity. Aortic stenosis was observed in 8 patients (25%) and absent in 24 patients (75%) (p=0.0001). Among those with stenosis, the mean transaortic gradient was 29.6 ± 9.9 mmHg, with 2 patients (6.25%) each classified as mild, mild-to-moderate, moderate, and severe. Mean aortic dimensions were: aortic bulb 38.2 ± 5.3 mm, ascending aorta 37.2 ± 7.1 mm, aortic arch 28.6 ± 5.5 mm, proximal descending aorta 25.7 ± 4.4 mm, medial descending aorta 24.8 ± 3.7 mm, and distal descending aorta 23.9 ± 3.8 mm. Fourteen patients (43.75%) had a dilated aortic bulb and 12 patients (37.5%) had a dilated ascending aorta. Conclusions Early identification of BAV phenotypes via TEE is particularly important, as raphes can be mistaken for true cusps on transthoracic echocardiography, potentially leading to missed diagnosis. The mean age at diagnosis in our cohort was slightly older than typically reported in the literature, highlighting the need for earlier detection. Many patients had complications, including aortic regurgitation, aortic stenosis, and dilation of the aortic bulb or ascending aorta, emphasizing the need for careful evaluation. Early and regular monitoring of valve function and aortic dimensions is crucial to prevent progression to severe valve disease or aortic complications and improve long-term cardiovascular outcomes.Bicuspid aortic valve type 1For image description, please refer to the figure legend and surrounding text.