Navigating the challenges of bicuspid aortic valve-aortopathy

Abstract

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.