Comparison of aortic stiffness in patients with juvenile forms of ascending aortic dilatation with versus without Marfan's syndrome.

Aortic stiffness in 78 patients with juvenile forms of ascending aortic dilation with Marfan's syndrome was compared with aortic stiffness in 17 patients without Marfan's syndrome. In the ascending aorta and aortic arch, aortic stiffness was similarly increased in the 2 groups. In the descending aorta, however, aortic stiffness was increased only in patients with Marfan's syndrome.

Evaluation of left ventricular dimensions and function in Marfan's syndrome without significant valvular regurgitation.

Left ventricular dimensions and systolic function were studied using echocardiography in 234 patients with Marfan's syndrome without significant valvular regurgitation. Left ventricular dimensions and systolic function were found to be normal in most patients with Marfan's syndrome. Some involvement of the left ventricle may have been present in a small group of these patients. No patients, however, fulfilled the criteria for dilated cardiomyopathy.

Beta-blocking therapy in patients with the Marfan syndrome and entire aortic replacement.

OBJECTIVE: Beta-blocking therapy is the standard therapy in non-operated Marfan patients, however its efficacy after entire aortic replacement is unknown. The aim of this study was to describe the influence of (nearly) entire aortic replacement and beta-blocking therapy on blood pressure and wave reflections in Marfan patients. METHODS: Four Marfan patients (mean age 31+/-3 years) and 8 age matched control subjects were studied. Blood pressure and wave reflections (reflection coefficient and augmentation index) were studied by means of magnetic resonance imaging, continuous non-invasive blood pressure measurements and applanation tonometry. Patients were studied with atenolol, labetalol and without beta-blocking therapy. RESULTS: In Marfan patients, aortic systolic pressure (129+/-13 vs 114+/-10 mmHg), pulse pressure (58+/-13 vs 40+/-5 mmHg), wave speed (11+/-3 vs 4+/-0.4 m s(-1)) and reflection coefficient (65+/-22 vs 41+/-5%) were significantly increased compared to controls. There was no difference in aortic pressure between various medications in Marfan patients (atenolol 129/76 mmHg, labetalol 121/75 mmHg and without beta-blocking therapy 129/71 mmHg). Higher reflection coefficients were seen in patients with atenolol compared to discontinued medication (73+/-18 vs 65+/-22%), and also the augmentation index was higher with atenolol compared to labetalol and discontinued medication (24+/-22 vs 17+/-17 vs 22+/-22%, respectively). CONCLUSION: Our results describe increased pulse pressure, systolic pressure, wave speed and wave reflections in four Marfan patients after entire aortic replacement. The use of atenolol or labetalol did not decrease aortic pressure and with atenolol increased wave reflections were observed. Therefore, the beneficial effect of atenolol in these patients is doubtful.

Aortic stiffness and diameter predict progressive aortic dilatation in patients with Marfan syndrome.

AIM: Patients with Marfan syndrome may develop dissection due to progressive dilatation in the entire aorta, which is not always predictable by mere anatomic assessment of the aortic diameter, especially of the descending aorta. The aim of this study was to identify the predictive value of aortic stiffness on the occurrence of dissection and progressive aortic dilatation. METHODS AND RESULTS: In 78 non-operated patients with Marfan syndrome (mean age 31+/-8 years, mean aortic root diameter 43+/-6 mm, range 31-55 mm) aortic stiffness and diameters were assessed by magnetic resonance imaging (MRI) at multiple levels. After a median follow-up of 71 months (25-75%: 68-72 months) a second MRI was performed and the incidence of aortic dissection and progressive aortic dilatation, defined as mean aortic diameter increase >1 mm/year was determined. During follow-up, 4 (5%) of 78 patients developed an aortic dissection (1 type A, 2 type B, and 1 infra-renal dissection). Twenty (26%) of the 78 patients had progressive aortic root dilatation. There were 5 (6%) patients with progressive descending thoracic aortic dilatation and 6 (7%) with progressive abdominal aortic dilatation. Multivariate logistic regression analysis revealed that local distensibility was an independent predictor of progressive thoracic descending aortic dilatation (OR=4.14, 95% CI, 1.02-16.7). For progressive aortic root and abdominal aortic dilatation local initial diameter appeared to be the major predictor (OR=1.37, 95% CI, 1.16-1.62; OR=1.36, 95% CI, 1.09-1.69, respectively). CONCLUSION: In patients with Marfan syndrome both aortic diameter and aortic distensibility are independent predictors of progressive aortic dilatation. For optimal risk assessment and monitoring of patients with Marfan syndrome, both aortic stiffness and diameter should be assessed at least annually.

Current insights in diagnosis and management of the cardiovascular complications of Marfan's syndrome.

Marfan's syndrome is an inherited disorder of connective tissue, caused by mutations in the fibrillin-1 gene located on chromosome 15. Diagnosis is still based on a combination of major and minor clinical features. Prognosis is mainly determined by the cardiovascular complications. Advances in surgical and medical treatment for these complications have dramatically improved the prognosis of the syndrome.