Aix Marseille Univ, INSERM, Marseille Medical Genetics, U1251, 13005, Marseille, France.
Département de Chirurgie Cardiaque, Hôpital de la Timone, 13005, Marseille, France.
Int J Cardiovasc Imaging. 2022 Jan;38(1):51-59. doi: 10.1007/s10554-021-02366-1. Epub 2021 Aug 10.
Although bicuspid aortic valve (BAV) is one of the most common congenital heart diseases, clinical data associated with valve dysfunction are still limited. We evaluated clinical characteristics and echocardiography of French patients with BAV associated with leaking and stenosis degeneration. We initiated a prospective registry from 2014 to 2018 at a tertiary center. A total of 223 patients (168 males [75%], age 53 ± 17 years) were enrolled. Among these patients 83% had left-right coronary cusps fusion, 80% Sievers type 1 BAV and 49% showed aortic dilatation. Twenty-four patients (11%) had normal valve function, 66 patients (31%) had aortic stenosis (AS), 91 patients (41%) had aortic regurgitation (AR) and 40 patients (17%) had AR and AS. BAV phenotype did not predict neither AS nor AR (all p > 0.1). By multivariable analysis, age > 50 (41.6[10.3-248.2], p < 0.001) and presence of raphe/fusion (12.8[2.4-87.4], p < 0.001) were significantly associated with AS, whereas male gender was associated with AR (5[1.6-16.4], p = 0.005). In addition, leaking degeneration was observed at a much younger age than stenosis (44 ± 14 years vs. 66 ± 10 years, p < 0.01) and among patients with valve dysfunction younger age was independently associated with AR (1.9[1.85-1.94], p < 0.001). In this study we confirmed high prevalence of valve dysfunction at first diagnosis of BAV in a referred population. The degenerative process differs according to type of dysfunction and is mainly dependent on age and gender.
虽然二叶式主动脉瓣（BAV）是最常见的先天性心脏病之一，但与瓣膜功能障碍相关的临床数据仍然有限。我们评估了法国患有漏风和狭窄退行性病变的 BAV 患者的临床特征和超声心动图。我们于 2014 年至 2018 年在一家三级中心启动了一项前瞻性注册研究。共纳入 223 例患者（168 例男性[75%]，年龄 53±17 岁）。其中 83%的患者左右冠状动脉瓣融合，80%为 Sievers 1 型 BAV，49%有主动脉扩张。24 例（11%）患者瓣膜功能正常，66 例（31%）有主动脉瓣狭窄（AS），91 例（41%）有主动脉瓣反流（AR），40 例（17%）有 AR 和 AS。BAV 表型既不能预测 AS 也不能预测 AR（均 p>0.1）。多变量分析显示，年龄>50 岁（41.6[10.3-248.2]，p<0.001）和存在嵴/融合（12.8[2.4-87.4]，p<0.001）与 AS 显著相关，而男性与 AR 相关（5[1.6-16.4]，p=0.005）。此外，漏风退行性变发生在狭窄退行性变之前，且年龄更轻（44±14 岁比 66±10 岁，p<0.01），且在有瓣膜功能障碍的患者中，年龄较小与 AR 独立相关（1.9[1.85-1.94]，p<0.001）。在这项研究中，我们在一个转诊人群中证实了 BAV 首次诊断时瓣膜功能障碍的高发生率。退行性变过程因功能障碍类型而异，主要取决于年龄和性别。
