"Apple does not fall far from the tree" - subclinical atherosclerosis in children with familial hypercholesterolemia.

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. Aim of this research was to use ultrasonography with two-dimensional speckle tracking (2DST) and tonometry to evaluate atherosclerotic changes in patients with FH (parents and their offspring). 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 2DST (for strain: 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 manifested 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 a good candidate for comprehensive evaluation of atherosclerosis in families with FH.

Two-Dimensional Speckle Tracking Versus Applanation Tonometry in Evaluation of Subclinical Atherosclerosis in Children with Type 1 Diabetes Mellitus.

BACKGROUND Patients with type 1 diabetes mellitus (T1DM) often develop atherosclerosis at an early age. In the subclinical stage of the process, minimal/non-morphological changes can be noticed, but the arterial wall function can be impaired. Applanation tonometry allows to assess the arterial tree stiffness; however, the Two-Dimensional Speckle Tracking (2DST) is an increasingly accepted alternative. This study evaluated arterial wall stiffness using these 2 techniques in children with T1DM. MATERIAL AND METHODS We performed applanation tonometry and carotid arteries sonography with evaluation of the carotid intima-media thickness (cIMT) and use of the 2DST in 50 children with T1DM and in 50 healthy sex- and age-matched controls. We also assessed the reliability of 2DST in 10 random subjects. RESULTS Children with T1DM had increased arterial wall stiffness, which was confirmed by tonometry (PWV: p=0.0386) and 2DST (Strain: p=0.0004; Strain rate: p=0.0081). There was no significant difference in cIMT between groups (0.45±0.06 vs. 0.43±0.05, p=0.073 in children with T1DM and controls, respectively). 2DST presented good intraclass correlation coefficient between researchers and within a single researcher. CONCLUSIONS Children with T1DM presenting with subclinical stage of atherosclerosis were found to have arterial wall stiffening. The 2DST, the same as applanation tonometry, allows to recognize this condition but in a more accessible and reproducible manner.