Bargagna Marta, Ascione Guido, Zancanaro Edoardo, Fioravanti Francesco, Sala Alessandra, Trumello Cinzia, Chang Guohao, Verzini Alessandro, Castiglioni Alessandro, Maisano Francesco
Department of Cardiac Surgery, IRCCS San Raffaele Hospital, Vita-Salute San-Raffaele University, 20132 Milan, Italy.
Department of Cardiac-Electrophysiology and Arrhythmia, IRCCS San Raffaele Hospital, Vita-Salute San-Raffaele University, 20132 Milan, Italy.
Rev Cardiovasc Med. 2024 Aug 23;25(8):310. doi: 10.31083/j.rcm2508310. eCollection 2024 Aug.
The bicuspid aortic valve (BAV) is the most common congenital cardiac abnormality. Though most often isolated, BAV may be associated with other cardiovascular malformations. BAV-related aortopathy is the most common, sharing genetic alterations and phenotypic heterogeneity characteristics. Sometimes silent for a lifetime, BAV may manifest as aortic valve dysfunction, aortic aneurysm, or more emergent situations, such as endocarditis or aortic dissection. Its embryological origin and the characterization of the genes involved, as well as the histopathological and hemodynamic aspects of its natural history, are becoming increasingly clear. In addition, emerging evidence of rhythm disorders associated with BAV has been identified. A new international nomenclature and classification has been introduced to interpret all the advances made in recent years for the comprehension of this condition. In the guidelines, more attention has been paid to the diagnosis of BAV and related aortopathy, together with surveillance, and family screening. Surgical treatment remains the gold standard, especially in young low-risk patients, and valve repair techniques have been shown to be effective and durable. Finally, the new era of transcatheter techniques is also being applied to dysfunctional BAV, allowing the treatment of patients at high surgical risk, with increasingly promising results, and the possibility of expanding indications through the introduction of more advanced devices. This review aims to comprehensively describe the BAV conundrum, focusing on anatomy, pathophysiology, genetics, diagnosis of BAV-related disorders, and the different treatment options available in the transcatheter era.
二叶式主动脉瓣（BAV）是最常见的先天性心脏异常。尽管多数情况下为孤立存在，但BAV可能与其他心血管畸形相关。BAV相关的主动脉病变最为常见，具有共同的基因改变和表型异质性特征。BAV有时可终生无症状，也可能表现为主动脉瓣功能障碍、主动脉瘤，或更紧急的情况，如心内膜炎或主动脉夹层。其胚胎学起源、相关基因的特征，以及其自然病史的组织病理学和血流动力学方面正日益清晰。此外，已发现与BAV相关的心律失常的新证据。已引入一种新的国际命名法和分类，以解读近年来在理解这种疾病方面取得的所有进展。在指南中，对BAV及相关主动脉病变的诊断、监测和家族筛查给予了更多关注。手术治疗仍然是金标准，尤其对于年轻的低风险患者，瓣膜修复技术已被证明有效且持久。最后，导管技术的新时代也正在应用于功能失调的BAV，使高手术风险患者能够得到治疗，结果越来越令人鼓舞，并且通过引入更先进的设备有可能扩大适应证。本综述旨在全面描述BAV难题，重点关注其解剖学、病理生理学、遗传学、BAV相关疾病的诊断，以及导管时代可用的不同治疗选择。
