Department of Pediatrics III, Faculty of Medicine, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540136 Târgu Mureș, Romania.
Department of Pediatrics III, Faculty of Medicine in English, George Emil Palade University of Medicine, Pharmacy, Science, and Technology of Targu Mures, 540136 Târgu Mureș, Romania.
Int J Mol Sci. 2022 Apr 30;23(9):4993. doi: 10.3390/ijms23094993.
Dilatation of the aorta is a constantly evolving condition that can lead to the ultimate life-threatening event, acute aortic dissection. Recent research has tried to identify quantifiable biomarkers, with both diagnostic and prognostic roles in different aortopathies. Most studies have focused on the bicuspid aortic valve, the most frequent congenital heart disease (CHD), and majorly evolved around matrix metalloproteinases (MMPs). Other candidate biomarkers, such as asymmetric dimethylarginine, soluble receptor for advanced glycation end-products or transforming growth factor beta have also gained a lot of attention recently. Most of the aortic anomalies and dilatation-related studies have reported expression variation of tissular biomarkers. The ultimate goal remains, though, the identification of biomarkers among the serum plasma, with the upregulation of circulating MMP-1, MMP-2, MMP-9, tissue inhibitor of metalloproteinase-1 (TIMP-1), asymmetric dimethylarginine (ADMA), soluble receptor for advanced glycation end-products (sRAGE) and transforming growth factor beta (TGF-β) being reported in association to several aortopathies and related complications in recent research. These molecules are apparently quantifiable from the early ages and have been linked to several CHDs and hereditary aortopathies. Pediatric data on the matter is still limited, and further studies are warranted to elucidate the role of plasmatic biomarkers in the long term follow-up of potentially evolving congenital aortopathies.
主动脉扩张是一种不断演变的病症，可能导致最终危及生命的事件，即急性主动脉夹层。最近的研究试图确定可量化的生物标志物，这些标志物在不同的主动脉病变中具有诊断和预后作用。大多数研究都集中在二叶式主动脉瓣，这是最常见的先天性心脏病（CHD），主要围绕基质金属蛋白酶（MMPs）展开。其他候选生物标志物，如不对称二甲基精氨酸、晚期糖基化终产物的可溶性受体或转化生长因子β，最近也引起了广泛关注。大多数主动脉异常和扩张相关研究都报告了组织生物标志物的表达变化。然而，最终目标仍然是在血清血浆中确定生物标志物，最近的研究报道，几种主动脉病变和相关并发症与循环 MMP-1、MMP-2、MMP-9、金属蛋白酶组织抑制剂-1（TIMP-1）、不对称二甲基精氨酸（ADMA）、晚期糖基化终产物的可溶性受体（sRAGE）和转化生长因子β（TGF-β）的上调有关。这些分子显然可以从早期进行量化，并且与几种 CHD 和遗传性主动脉病变有关。关于这方面的儿科数据仍然有限，需要进一步的研究来阐明血浆生物标志物在潜在进展性先天性主动脉病变的长期随访中的作用。
