Cardiology Department, Heart Area, Hospital Universitario Central de Asturias (HUCA), 33011 Oviedo, Spain.
Cardiac Pathology Research Group, Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33011 Oviedo, Spain.
Int J Mol Sci. 2021 May 27;22(11):5694. doi: 10.3390/ijms22115694.
Bicuspid aortic valve (BAV) associated with aortopathy is the most common congenital heart disease in the general population. Far from being a simple harmless valve malformation, it can be a complex and heterogeneous disease and a source of chronic and acute pathology (early valvular disease, aneurysm, dissection). In the previous years, intense research has been carried out to find out and understand its mechanisms, but the pathophysiology of the disease is still not fully understood and many questions remain open. Recent studies have discovered several genetic mutations involved in the development of valvular and aortic malformations, but still cannot explain more than 5-10% of cases. Other studies have also focused on molecular alterations and cellular processes (TGF-β pathway, microRNAs, degradation of the extracellular matrix, metalloproteinases, etc.), being a field in constant search and development, looking for a therapeutic target to prevent the development of the disease. Increased knowledge about this multifaceted disorder, derived from both basic and clinical research, may influence the diagnosis, follow-up, prognosis, and therapies of affected patients in the near future. This review focuses on the latest and outstanding developments on the molecular and genetic investigations of the bicuspid aortopathy.
二叶式主动脉瓣（BAV）伴发主动脉病变是人群中最常见的先天性心脏病。它远非一种简单无害的瓣膜畸形，而是一种复杂且异质性的疾病，可引起慢性和急性病变（早期瓣膜病、动脉瘤、夹层）。在过去的几年中，人们进行了大量研究以探究和理解其发病机制，但该疾病的病理生理学仍未完全阐明，许多问题仍未解决。最近的研究发现了几种与瓣膜和主动脉畸形发生相关的基因突变，但仍不能解释超过 5-10%的病例。其他研究也集中在分子改变和细胞过程（TGF-β 通路、microRNAs、细胞外基质降解、金属蛋白酶等）上，该领域一直在不断探索和发展，以寻找预防疾病发生的治疗靶点。源于基础和临床研究的对这种多方面疾病的深入了解，可能会在不久的将来影响受影响患者的诊断、随访、预后和治疗。本综述重点介绍了二叶式主动脉瓣病变的分子和遗传学研究的最新杰出进展。
