P777Arterial stiffness as a biomarker of arterial wall involvement in patients with non-specific congenital connective tissue disorders

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Purpose: Systemic manifestations of connective tissue disorders (CTD) as for example in Marfan, Ehler-Danlos, and other genetic syndromes may include changes of vascular wall structure and function. Our aim was to evaluate the arterial stiffness in patients with clinical signs of possible congenital CTD.

Methods: The study involved 121 young patients (age 18-35 years) with no less than 5 clinical signs of CTD such as skeletal and skin abnormalities, changes of joints mobility, mitral valve prolapse, and etc. with no other diseases who did not meet the criteria for known genetic syndromes (CTD group) and 61 age and sex matched healthy volunteers as a control group. The examination included pulse wave velocity (PWV) measurement by means of photoplethysmography after sublingual glyceryl trinitrate to diminish the functional component of stiffness and carotid intima-media thickness (IMT) measurement by means of vascular ultrasound. Cardiovascular risk factors screening was performed to avoid other influences on arterial wall.

Results: Groups did not differ by age, gender, smoking status, HDL cholesterol, glucose levels and IMT. Mean values of PWV were significantly higher in CTD compared to control group (4.79±0.62 m/s versus 5.01±0.51 m/s, p<0.05, respectively), whereas, systolic and diastolic blood pressure, body mass index, total and LDL cholesterol, and triglycerides were significantly lower (p<0.05 for all variables). In a whole studied sample, there were found significant correlations of PWV with age, body mass index, blood pressure levels, total and LDL cholesterol, and triglycerides (p<0.05 for all variables). On multivariate regression analysis with CTD as one of the independent variables only age, diastolic blood pressure and CTD remain significantly associated with PWV (p<0.001, p<0.001, p<0.005, respectively). Moreover, there was found a significant correlation between PWV and the score of systemic involvement of connective tissue according to Ghent criteria for Marfan syndrome (r=0.30, p<0.001).

Conclusions: Thus, patients with clinical signs of CTD may have increased arterial stiffness even in the absence of definite genetic syndromes and macroscopic structural changes of vascular wall independently of the presence of cardiovascular risk factors. These changes may be related to genetically mediated ultrastructural abnormalities of elastic components of arterial wall. From this point of view increased arterial stiffness may be the clinical biomarker of vascular connective tissue involvement in patients with signs of CTD who do not meet the criteria for known genetic syndromes.

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