12.5 Analysis of Endothelium-Dependent Dilation, Aortic Stiffness and Microcirculatory Flux in Achondroplastic Patients
Introduction. We studied endothelium dependent vasodilation, arterial stiffness and micro-circulatory reactivity in young people affected by achondroplasia (mutation of collagen receptor gene - FGFR3), this gene is involved in artery wall composition and in the structure of atherosclerotic plaque.
Methods. 26 achondroplasic patients (AP) and 26 controls were submitted to measurements of intima media thickness at common carotid artery (IMT), endothelium dependent dilation (EDD), cutaneous micro-circulatory study at rest and after acetylcholine, carotid-femoral and femoral-tibial pulse way velocity (PWV).
Results. IMT was increased in AP (0,55±0,11 vs 0,45±0,10 mm; p=0,04 4). No plaques were detected in our patients along carotid segments. EDD measured on the humeral artery was slightly impaired in AP (11,2± 3,1 vs 15,3±3,5 % calibre increase; p=0,048); maximum hyperaemic flow was reduced in AP (p=0,038,). Aortic-PWV was lower in AP (4,99 vs 7,5 m/s; p=0,043), while femoral-PWV was comparable in the two groups. No difference was detected for micro-circulatory flux protocol.
Conclusions. AP studied at different circulatory segments presents significant differences in EDD and IMT and a reduced hyperaemic function at the forearm. IMT and EDD impairment suggests an increased cardiovascular risk and may be linked with an alteration of artery wall structured, for modified collagen synthesis. PWV modification is not clearly interpretable; PWV is determined by the features of artery wall and also by wall tension (probably reduced in this type of patients). Collagen synthesis modifications in AP may determine an impairment of endothelial function and an increased IMT. AP analysis highlights some vascular features of patients with collagen modified synthesis; FGFR3 is involved in artery wall composition and we can hypothesize that its mutation could take part in the atherosclerotic process.
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De Marchi, S., Zambito, A., Rigoni, A. et al. 12.5 Analysis of Endothelium-Dependent Dilation, Aortic Stiffness and Microcirculatory Flux in Achondroplastic Patients. High Blood Press Cardiovasc Prev 15, 314 (2008). https://doi.org/10.1007/BF03263726