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). 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. 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. 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.

中文翻译：

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“苹果离树不远”-家族性高胆固醇血症儿童的亚临床动脉粥样硬化。

家族性高胆固醇血症（FH）增加了儿童和成人患动脉粥样硬化的风险。在年轻患者中，动脉粥样硬化性心血管疾病通常是亚临床的，但是识别出变化更为明显的孩子对于调整有效的治疗至关重要。这项研究的目的是使用具有二维斑点跟踪（2DST）和眼压测量的超声检查来评估FH患者（父母及其后代）的动脉粥样硬化变化。在20例FH家庭（20例父母和29名儿童）中进行了压平眼压计和颈动脉超声检查，评估了内膜-中膜复合物厚度（IMCT）并应用了2DST。包括相同大小的对照组（年龄和性别匹配）。比较了同and之间以及几代之间的结果以及相关性分析。与健康的同龄人相比，患有FH的成年人呈现出明显更多的动脉粥样硬化斑块（9 vs. 2，p = 0.0230），IMC明显更厚（0.84±0.19 vs. 0.56±0.06 mm，p <0.0001）并且动脉壁较硬（对于染色：6.25±2.3与8.15±2.46，p = 0.0103）。两组儿童均无动脉粥样硬化斑块，IMCT无明显差异（0.42±0.07与0.39±0.04，p = 0.1722）。然而，根据2DST（对于应变：9.22±3.4对11.93±3.11，p = 0.0057）和眼压测量（对于脉搏波速度：4.5±0.64对3.96±0.62，p =），FH患儿的动脉壁明显变硬。 0.0047）。这些参数与其父母中的动脉粥样硬化代用品有关（p <0.001），但不受假定的致病基因变异的影响。FH患儿表现为亚临床动脉粥样硬化，表现为动脉壁弹性降低。他们父母的僵硬程度与动脉粥样硬化的进展有关，但与基因变异没有显着关联。应用2DST的超声检查似乎是综合评估FH家庭中动脉粥样硬化的好选择。