An update on the etiology of abdominal aortic aneurysms: implications for future diagnostic testing

Abstract

Abdominal aortic aneurysm (AAA) disease is multifactorial with both environmental and genetic risk factors. The current research in AAA revolves around genetic profiles and expression studies in both human and animal models. Variants in genes involved in extracellular matrix degradation, inflammation, the renin-angiotensin system, cell growth and proliferation and lipid metabolism have been associated with AAA using a variety of study designs. However, the results have been inconsistent and without a standard animal model for validation. Thus, despite the growing body of knowledge, the specific variants responsible for AAA development, progression and rupture have yet to be determined. This review explores some of the more significant genetic studies to provide an overview of past studies that have influenced the current understanding of AAA etiology. Expanding our understanding of disease pathogenesis will inform research into novel diagnostics and therapeutics and ultimately to improve outcomes for patients with AAA.

LncRNA and mRNA interaction study based on transcriptome profiles reveals potential core genes in the pathogenesis of human thoracic aortic dissection

“…The H19 lncRNA is a novel negative regulator of cardiomyocyte hypertrophy ( 13 ). A cardiac specific lncRNA Mhrt has been demonstrated to protect the heart from pathological cardiac hypertrophy ( 6 ). However, specific studies looking at lncRNAs in TAD are still lacking.…”

“…The inhibition of lncRNA HIF1A-AS1 in VSMCs suppressed cell apoptosis and enhanced cell proliferation, which may participate in the pathogenesis of thoraco-abdominal aorta aneurysm (TAAA) ( 7 , 14 ). BRG1 expression is increased in TAA and regulates proliferation and apoptosis of VSMCs through the HIF1A-AS1 ( 6 ). These results may shed light on important functions of lncRNAs in TAD.…”

“…Upregulated myocardial infarction-associated transcript 1 (Mirt1) and Mirt2 can promote cardiac contractile function and decrease left ventricular remodeling ( 5 ). Myosin heavy chain-associated RNA transcript (Mhrt) can protect the heart from pathological cardiac hypertrophy ( 6 ). Although an increasing number of lncRNAs have been characterized, the role of lncRNAs in TAD has not been investigated.…”

Vascular Deformation Mapping (VDM) of Thoracic Aortic Enlargement in Aneurysmal Disease and Dissection

“…There has been increased interest in elucidating the cellular pathways involved in remodeling of the vascular wall leading to the formation of aortic aneurysm ( 36 , 37 ). Various cellular signaling pathways along with host-immune interactions have been implicated in the pathogenesis of AAAs ( 38 – 41 ). These factors are in part related to the complex underlying cellular processes responsible for the loss of extracellular matrix and wall remodeling.…”

Neutrophils as Regulators and Biomarkers of Cardiovascular Inflammation in the Context of Abdominal Aortic Aneurysms

“…Men are more often affected by this disease than women, especially the elderly population [ 28 ]. An AAA is a multifactorial disease with environmental and genetic risk factors [ 29 , 30 ]. Apart from the non-modifiable risk factors gender, age and genetic predisposition, smoking is known as the most significant lifestyle factor.…”