ABSTRACT
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). RTâqPCR 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 TGFß 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.
ABSTRACT
To control the development of people with congenital heart disease (CHD), it is important to follow their aerobic capacity (AC), especially when they exercise. This research aimed to study the progress of AC during a follow-up of adults with CHD. This is a longitudinal study which involved 127 adults with a mean age of 33.8 (11.1) years (57.5% female; 75 moderate CHD and 52 complex CHD) who had undergone two cardiopulmonary exercise tests (CEPT) in at least one year between the first and the second test. The AC and exercise performance (EP) (duration of exercise time, velocity and percentage of grade) were assessed using a ramp protocol over a treadmill. In a mean of 4.5 (2.0) years of follow-up, there was a significant decrease in AC. The VO2peak at baseline was 27.8 (27.7) mL/kg/min (82.9% (20.3%) predicted) versus 26.6 (7.8) mL/kg/min (79.3% (20.8%) predicted) at the end of follow-up. This decline was independent of the body weight increase. There was no significant difference in HRpeak and EP among periods. These results suggest a sign of favorable evolution of adults with CHD. More research is needed to study different factors that could contribute to AC reduction.
