Bicuspid aortic valve-associated aortopathy: update on biomarkers

Abstract

Purpose of review: Bicuspid aortic valve (BAV)-associated aortopathy is common and its progression for individual patients is difficult to predict. The present review aims to identify recent developments using biomarkers for the determination of risk and progression of disease in patients with BAV aortopathy.

Recent findings: Novel rare genetic variants and epigenetic methylation signatures affecting non-cytosine phosphate guanine (non-CpG) and CpG sites, nicotinamide phosphoribosyltransferase and Sod expression may lead to improved prediction of the aortopathy phenotype. Circulating transforming growth factor β-1/endoglin and miRNA signatures are found to be indicative of aortic dilation. Aortic miRNA, sphingomyelin and oxidative stress levels are linked to aortopathy progression and aortic dilation. Further evidence is shown that the pattern of cusp fusion in BAV may influence the location and extent of aortopathy.

Summary: The clinical phenotypic variability seen in BAV patients suggests complex interactions between genetic variants, epigenetic regulation modifications and the variable effect of valve-mediated hemodynamic flow disturbances on the aorta and its secreted markers. Emerging biomarkers may serve along with advanced noninvasive imaging modalities to precisely identify risk of aortic complications and identify those patients who are in need of surgical intervention.