Bulut Halil Ibrahim, Arjomandi Rad Arian, Syrengela Angeliki-Aikaterini, Ttofi Iakovos, Djordjevic Jasmina, Kaur Ramanjit, Keiralla Amar, Krasopoulos George
Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa, Istanbul 34098, Turkey.
Medical Sciences Division, University of Oxford, Oxford OX1 3AZ, UK.
J Cardiovasc Dev Dis. 2023 Sep 18;10(9):398. doi: 10.3390/jcdd10090398.
bicuspid aortic valve (BAV) stands as the most prevalent congenital heart condition intricately linked to aortic pathologies encompassing aortic regurgitation (AR), aortic stenosis, aortic root dilation, and aortic dissection. The aetiology of BAV is notably intricate, involving a spectrum of genes and polymorphisms. Moreover, BAV lays the groundwork for an array of structural heart and aortic disorders, presenting varying degrees of severity. Establishing a tailored clinical approach amid this diverse range of BAV-related conditions is of utmost significance. In this comprehensive review, we delve into the epidemiology, aetiology, associated ailments, and clinical management of BAV, encompassing imaging to aortic surgery. Our exploration is guided by the perspectives of the aortic team, spanning six distinct guidelines.
We conducted an exhaustive search across databases like PubMed, Ovid, Scopus, and Embase to extract relevant studies. Our review incorporates 84 references and integrates insights from six different guidelines to create a comprehensive clinical management section.
BAV presents complexities in its aetiology, with specific polymorphisms and gene disorders observed in groups with elevated BAV prevalence, contributing to increased susceptibility to other cardiovascular conditions. The altered hemodynamics inherent to BAV instigate adverse remodelling of the aorta and heart, thus fostering the development of epigenetically linked aortic and heart diseases. Employing TTE screening for first-degree relatives of BAV patients might be beneficial for disease tracking and enhancing clinical outcomes. While SAVR is the primary recommendation for indicated AVR in BAV, TAVR might be an option for certain patients endorsed by adept aortic teams. In addition, proficient teams can perform aortic valve repair for AR cases. Aortic surgery necessitates personalized evaluation, accounting for genetic makeup and risk factors. While the standard aortic replacement threshold stands at 55 mm, it may be tailored to 50 mm or even 45 mm based on patient-specific considerations.
This review reiterates the significance of considering the multifactorial nature of BAV as well as the need for further research to be carried out in the field.
二叶式主动脉瓣(BAV)是最常见的先天性心脏病,与包括主动脉反流(AR)、主动脉狭窄、主动脉根部扩张和主动脉夹层在内的主动脉病变密切相关。BAV的病因极为复杂,涉及一系列基因和多态性。此外,BAV为一系列结构性心脏病和主动脉疾病奠定了基础,其严重程度各不相同。在这种多样的BAV相关疾病中建立量身定制的临床方法至关重要。在这篇全面的综述中,我们深入探讨了BAV的流行病学、病因、相关疾病以及临床管理,涵盖了从影像学检查到主动脉手术的各个方面。我们的探索以主动脉团队的观点为指导,涵盖了六个不同的指南。
我们在PubMed、Ovid、Scopus和Embase等数据库中进行了详尽的搜索,以提取相关研究。我们的综述纳入了84篇参考文献,并整合了来自六个不同指南的见解,以创建一个全面的临床管理部分。
BAV的病因存在复杂性,在BAV患病率较高的群体中观察到特定的多态性和基因紊乱,这增加了对其他心血管疾病的易感性。BAV固有的血流动力学改变会引发主动脉和心脏的不良重塑,从而促进表观遗传相关的主动脉和心脏病的发展。对BAV患者的一级亲属进行经胸超声心动图(TTE)筛查可能有助于疾病追踪并改善临床结果。虽然外科主动脉瓣置换术(SAVR)是BAV患者有指征进行主动脉瓣置换(AVR)的主要推荐,但对于某些由经验丰富的主动脉团队认可的患者,经导管主动脉瓣置换术(TAVR)可能是一种选择。此外,专业团队可以对AR病例进行主动脉瓣修复。主动脉手术需要进行个性化评估,考虑基因构成和风险因素。虽然标准的主动脉置换阈值为55毫米,但根据患者的具体情况,可能会调整为50毫米甚至45毫米。
本综述重申了考虑BAV多因素性质的重要性以及该领域进一步开展研究的必要性。