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• W4255016878 abstract "Abstract Background Familial hypercholesterolemia (FH) increases the risk of atherosclerosis in children and adults. Atherosclerotic cardiovascular disease in young patients FH is usually subclinical but recognition of children with more pronounced changes is crucial for adjusting effective management. Thus, we aimed to use ultrasonography with two-dimensional speckle tracking (2DST) and tonometry to evaluate atherosclerotic changes in parents and their children with FH. Methods Applanation tonometry and carotid arteries sonography with evaluation of the intima-media complex thickness (IMCT) and application of the 2DST were performed in 20 families with FH (20 parents and 29 children). The same size control group (age and sex matched) was included. Results were compared between peers and between generations together with the correlation analysis. Results Adults with FH in comparison with healthy peers presented significantly more atherosclerotic plaques (9 vs. 2, p=0.0230), had significantly thicker IMC (0.84±0.19 vs. 0.56±0.06 mm, p<0.0001) and had stiffer arterial wall (for stain: 6.25±2.3 vs. 8.15±2.46, p=0.0103). In children from both groups there were no atherosclerotic plaques and IMCT did not differ significantly (0.42±0.07 vs. 0.39±0.04, p=0.1722). However, children with FH had significantly stiffer arterial wall according to sonography with 2DST (for stain: 9.22±3.4 vs. 11.93±3.11, p=0.0057) and tonometry (for the pulse wave velocity: 4.5±0.64 vs.3.96±0.62, p=0.0047). These parameters correlated with atherosclerosis surrogates in their parents (p<0.001) but were not significantly affected by presence of presumed pathogenic gene variant. Conclusions Children with FH presented subclinical atherosclerosis manifesting as decreased arterial wall elasticity. Degree of stiffening was associated with advancement of atherosclerosis in their parents but did not present significant association with gene variants. Sonography with application of 2DST seems to be the best candidate for comprehensive evaluation of atherosclerosis in families with FH." @default.
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• W4255016878 date "2020-03-30" @default.
• W4255016878 modified "2023-09-28" @default.
• W4255016878 title "“Apple does not fall far from the tree” – subclinical atherosclerosis in children with familial hypercholesterolemia." @default.
• W4255016878 doi "https://doi.org/10.21203/rs.3.rs-19742/v1" @default.
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