miR-130a expression is related to aortic dilation in bicuspid aortic valve children

• Published in: Pediatric research 2024-06, Vol.95 (7), p.1741-1748
• Main Authors: Antequera-González, Borja, Collell-Hernández, Rosa, Martínez-Micaelo, Neus, Marimon-Blanch, Cristina, Carbonell-Prat, Bàrbara, Escribano, Joaquín, Alegret, Josep M.
• Format: Article
• Language: English
• Subjects: Adolescent; Adults; Aorta; Aortic Valve - abnormalities; Basic Science Article; Bicuspid Aortic Valve Disease; Biomarkers; Biomarkers - blood; Case-Control Studies; Child; Child, Preschool; Childrens health; Coronary vessels; Dilatation, Pathologic; Female; Gene expression; Health risks; Heart Valve Diseases - blood; Heart Valve Diseases - genetics; Humans; Male; Medicine; Medicine & Public Health; MicroRNAs; MicroRNAs - blood; MicroRNAs - genetics; MicroRNAs - metabolism; Pediatric Surgery; Pediatrics; Plasma
• ISSN: 0031-3998; 1530-0447; 1530-0447
• DOI: 10.1038/s41390-024-03018-5

Background Bicuspid aortic valve disease (BAV) is present in 0.5–2% of the population and can promote aortic dilation, eventually leading to fatal consequences. Although some biomarkers have been proposed in adults, no studies have tested these candidates in children. We aimed to evaluate four miRNAs previously described to be related to BAV disease and aortic dilation in adults in a paediatric cohort. Methods Eighty participants ≤17 years old (4–17; mean 12) were included. From the BAV group, 40% had a dilated aorta ( z score >2). RT‒qPCR were performed in plasma samples to quantify miR-122, miR-130a, miR-486, and miR-718 using the delta-delta Ct method. Functional and enrichment analyses of miR-130a were also performed. Results miR-130a expression in plasma was found to be significantly lower in BAV patients with a dilated aorta versus nondilated patients ( p  = 0.008) and healthy TAV controls ( p  = 0.004). Furthermore, miR-130a expression in plasma was inversely correlated with ascending aorta ( r  = 0.318, p  = 0.004) and aortic root z scores ( r  = 0.322; p  = 0.004). Enrichment analysis showed that miR-130a target genes are related to the TGFβ signalling pathway. Conclusions miR-130a expression in plasma is decreased in aortic-dilated BAV children compared to nondilated BAV children, helping differentiate low- to high-risk patients. Impact miR-130a expression in plasma is related to aortic dilation in bicuspid aortic valve (BAV) children. To our knowledge, this is the first study that analyses miRNA patterns in bicuspid aortic valve children with aortic dilation. miR-130a expression in plasma could be a biomarker in order to help differentiate low-to high-risk BAV children, which is vitally important for advanced care planning.