Kanagala Sai Gautham, Sawhney Aanchal, Parikh Kinna, Gupta Vasu, Mahmood Talha, Anamika Fnu, Jain Rohit, Garg Nikita
Osmania Medical College, Hyderabad, India.
Department of Internal Medicine, Crozer Chester Medical Center, Pennsylvania, USA.
Glob Cardiol Sci Pract. 2023 Sep 30;2023(4):e202327. doi: 10.21542/gcsp.2023.27.
Bicuspid aortic valve (BAV) is a congenital heart defect that affects 0.5-2% of the general population with familial predominance. The modifications in hemodynamics and structure change at cellular level contribute to the dilation of aorta, resulting in bicuspid aortopathy, which can result in catastrophic aortic events. The American Heart Association recommends screening first-degree relatives of patients with bicuspid aortic valve and aortic root disease. BAV may or may not be associated with a syndrome, with the non-syndromic variety having a higher chance of predisposition to congenital and vascular abnormalities. Many genes have been implicated in the etiology of non-syndromic aortic aneurysm such as ACTA2, MYH11, FLNA, and SMAD3. Common diagnostic modalities include transthoracic echocardiography (TTE), transesophageal echocardiography (TEE), multi system computer tomography (MSCT), and cardiac MRI. Medical management reduces the rate of disease progression and surgical management is indicated based on the diameter of the ascending aorta, which differs in American and European guidelines. Our article aims to explore the current understanding of the pathophysiology, clinical aspects, and surgical management of bicuspid aortic valve disease. Additionally, we have included a discussion on the management of this condition in special populations, such as athletes and pregnant women, who require distinct treatment recommendations.
二叶式主动脉瓣(BAV)是一种先天性心脏缺陷,影响着0.5%-2%的普通人群,具有家族聚集性。血流动力学和细胞水平结构变化的改变会导致主动脉扩张,从而引发二叶式主动脉病变,这可能导致灾难性的主动脉事件。美国心脏协会建议对二叶式主动脉瓣和主动脉根部疾病患者的一级亲属进行筛查。BAV可能与综合征有关,也可能无关,非综合征型更易患先天性和血管异常。许多基因与非综合征型主动脉瘤的病因有关,如ACTA2、MYH11、FLNA和SMAD3。常见的诊断方法包括经胸超声心动图(TTE)、经食管超声心动图(TEE)、多系统计算机断层扫描(MSCT)和心脏磁共振成像。药物治疗可降低疾病进展速度,手术治疗则根据升主动脉直径来决定,美国和欧洲的指南对此有所不同。我们的文章旨在探讨目前对二叶式主动脉瓣疾病的病理生理学、临床情况和手术治疗的理解。此外,我们还讨论了特殊人群(如运动员和孕妇)中这种疾病的管理,他们需要不同的治疗建议。