Aortic stiffness and pulse wave analysis in children and adolescents with marfan syndrome

OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation beginning in childhood. Aortic stiffness is increased in patients with MFS but data in pediatric age are lacking. Aim of this study was to evaluate aortic stiffness and pulse wave analysis in children and adolescents with MFS, compared to general pediatric population, and its association with aortic root diameters. DESIGN AND METHOD: Fifty-two children with MFS (age: 12.0 ± 3.3, 5.6-17.5 years), identified according to 2010 Revised Ghent Criteria and without history of cardiovascular surgery were enrolled. Patients underwent a clinical evaluation and an echocardiography. Viscoelastic aortic properties were studied assessing carotid-femoral pulse wave velocity (PWV) and analysing central blood pressure waveform with carotid tonometry. Hemodynamic parameters of MFS patients were compared with those of 73 age, sex, mean blood pressure and heart rate matched controls. RESULTS: Central pulse pressure (CPP) was significantly higher (38.2 ± 12.2 vs 33.6 ± 8.0 mmHg, p = 0.01) and pulse pressure amplification (PPA) was significantly reduced in MFS patients than controls (18.0 ± 15.1% vs 31.8 ± 20.3%, p < 0.0001). PWV was not significantly different between MFS and controls (4.98 ± 1.00 vs 4.79 ± 0.68 m/s). In MFS cohort, after correction for age, sex, mean arterial pressure and heart rate both CPP and PPA were significantly associated with aortic root diameter at the sinuses of Valsalva (CPP R = 0.393 p = 0.008; PPA R = -0.306 p = 0.041). CONCLUSIONS: CPP and PPA are increased in children with MFS and are related to aortic root diameter. PWV is similar to general pediatric population. Pulse wave analysis variables are able to predict aortic abnormalities better than PWV in children and adolescents with MFS