Is there a role for biomarkers in thoracic aortic aneurysm disease?
- 300 Downloads
Thoracic aortic aneurysm (TAA) represents a major cause of mortality and morbidity in Western countries. The natural history of TAA is indolent, with patients usually being asymptomatic until a catastrophic event such as rupture or dissection ensues. As such, early diagnosis is crucial and the search is ongoing for a biomarker that can indicate the presence of TAA with sufficient accuracy to act as a screening tool. To date, no such marker has been developed for the diagnosis of non-familial or ‘sporadic’ TAA. However, our increased understanding of the pathogenesis of both familial and sporadic TAA has suggested potential candidates for diagnostic biomarkers. Many markers/pathways have been shown to have differential activity levels or expression in the aortic tissue of TAA. However, priority is given to markers that have shown differential levels in blood plasma, as blood tests represent the easiest route for mass screening for TAA. This review aims to evaluate the efficacy of clinical tests already in use in diagnosing TAA, explore novel proposed biomarkers and identify key areas of future interest.
KeywordsBiomarkers Thoracic aorta Aneurysm Dissection
Compliance with ethical standards
Conflict of interest
The authors do not wish to make any disclosures.
- 2.Wilson JMG, Jungner G. Principles and practice of screening for disease. Public health papers, No. 34. Geneva: World Health Organization; 1968. pp 26–7.Google Scholar
- 45.Milewicz DM, Regalado E. Heritable Thoracic Aortic Disease Overview. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC et al, editors. GeneReviews(R). Seattle: University of Washington; 1993. (GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved).Google Scholar
- 51.Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, et al. Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods: resequencing microarray technology and next-generation sequencing. Hum Genet. 2012;131:591–9.CrossRefGoogle Scholar
- 52.Absi TS, Sundt TM 3rd, Tung WS, Moon M, Lee JK, Damiano RR Jr, et al. Altered patterns of gene expression distinguishing ascending aortic aneurysms from abdominal aortic aneurysms: complementary DNA expression profiling in the molecular characterization of aortic disease. J Thorac Cardiovasc Surg. 2003;126:344–57 (discission 57).CrossRefGoogle Scholar
- 57.Li T, Lv Z, Jing JJ, Yang J, Yuan Y. Matrix metalloproteinase family polymorphisms and the risk of aortic aneurysmal diseases: a systematic review and meta-analysis. Clin Genet. 2017. https://doi.org/10.1111/cge.13050.
- 59.Kim HW, Stansfield BK. Genetic and epigenetic regulation of aortic aneurysms. BioMed Res Int. 2017;2017:7268521.Google Scholar