Introduction Fibrillin-1 deficiency, dysregulated cytokine transforming growth factor beta and increased collagen deposition related to fibrillin-1 gene mutations cause increased aortic stiffness in Marfan syndrome. Pulse wave velocity probably constitutes the best indirect measure of aortic stiffness. We aimed to assess pulse wave velocity in adult patients with Marfan syndrome using two-dimensional and Doppler echocardiography.
Methods Twenty-six unoperated patients with Marfan syndrome, 12 men and 14 women (mean age 31 ± 14 years) and 26 normal controls matched for sex, age and body surface area were studied. Two-dimensional and Doppler measurements were taken from a suprasternal view. Blood flow was recorded with the sample volume placed in the centre of the aorta near the aortic valve and after 10 s in the most distal displayed point of the descending aorta with simultaneous ECG. The time from the beginning of QRS to the onset of ascending (T1) and descending (T2) aortic flow and the difference between these time intervals (TD = T2 − T1) were measured. Pulse wave velocity was then calculated by dividing the distance between the two points of Doppler recordings by the TD. B-stiffness and peak aortic flow were also measured.
Results Pulse wave velocity was significantly higher in patients with Marfan syndrome compared with controls; 7.20 m/s (5.12, 9.43) versus 4.64 m/s (3.37, 6.24), p<0.001 (see fig). B-stiffness was also increased in patients with Marfan syndrome; 5.15 (3.69, 7.65) versus 2.44 (1.82, 3.66), p<0.001. Systolic blood pressure and peak aortic flow values showed no differences; patients with Marfan syndrome: 111.5 mm Hg (110, 120) and 359 ml/s (304, 399) versus controls: 110 mm Hg (110, 120) and 379 ml/s (333, 402). Nine out of 26 patients with Marfan syndrome were on beta-blockers. Heart rate was lower in patients with Marfan syndrome, (56 ± 8 bpm vs 62 ± 8 bpm, p = 0.035) but there was no difference in heart rate between controls and patients off beta-blockers. Lower heart rate could be attributed to the beta-blockade effect. Multiple regression analysis was not performed due to the pilot character of this study.
Conclusion Aortic stiffness was significantly higher in patients with Marfan syndrome. Our preliminary data demonstrated that pulse wave velocity measurements can be easily performed in adults as part of an echocardiogram. This technique can be helpful in the diagnosis, long-term follow-up and management of patients with Marfan syndrome.