PDF(Pubmed)
Abstract：
OBJECTIVE: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
目标：二叶主动脉瓣（BAV）是最常见的先天性心脏病，与包括主动脉瓣返流（AR）的主动脉病变密切相关，主动脉狭窄,主动脉根部扩张,和主动脉夹层.BAV的病因非常复杂，涉及一系列基因和多态性。此外，BAV为一系列结构性心脏和主动脉疾病奠定了基础，呈现不同程度的严重程度。在这种不同范围的BAV相关病症中建立量身定制的临床方法具有最重要的意义。在这次全面审查中，我们深入研究流行病学，病因学，相关疾病，和BAV的临床管理，包括主动脉手术的成像。我们的探索是由主动脉团队的观点指导的，跨越六个不同的指导方针。
方法：我们在PubMed等数据库中进行了详尽的搜索，奥维德,Scopus,和Embase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。
结果：BAV在病因上表现出复杂性，在BAV患病率升高的组中观察到特定的多态性和基因紊乱，有助于增加对其他心血管疾病的易感性。BAV固有的血流动力学改变引起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TTE筛查可能有利于疾病追踪和提高临床结局。虽然SAVR是BAV中指示AVR的主要建议，对于熟练的主动脉团队认可的某些患者，TAVR可能是一种选择。此外,熟练的团队可以对AR病例进行主动脉瓣修复。主动脉手术需要个性化评估，考虑遗传构成和风险因素。而标准主动脉置换阈值为55mm,基于患者特定的考虑,其可以被定制为50mm或甚至45mm。
结论：这篇综述重申了考虑BAV的多因素性质以及在该领域进行进一步研究的必要性的重要性。
方法：我们在PubMed等数据库中进行了详尽的搜索，奥维德,Scopus,和Embase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。
结果：BAV在病因上表现出复杂性，在BAV患病率升高的组中观察到特定的多态性和基因紊乱，有助于增加对其他心血管疾病的易感性。BAV固有的血流动力学改变引起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TTE筛查可能有利于疾病追踪和提高临床结局。虽然SAVR是BAV中指示AVR的主要建议，对于熟练的主动脉团队认可的某些患者，TAVR可能是一种选择。此外,熟练的团队可以对AR病例进行主动脉瓣修复。主动脉手术需要个性化评估，考虑遗传构成和风险因素。而标准主动脉置换阈值为55mm,基于患者特定的考虑,其可以被定制为50mm或甚至45mm。
结论：这篇综述重申了考虑BAV的多因素性质以及在该领域进行进一步研究的必要性的重要性。
