Marfan Syndrome
Conditions
Interventions
None listed
Sponsors
Amsterdam UMC
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: - Marfan Syndrome patients with a known Fibrilline-1 mutation - Between 18-50 years of age Inclusion criteria for participation in the surgery substudy: - Marfan Syndrome patients with a known Fibrilline-1 mutation - Planned elective thoracic aorta surgery (aortic (root) replacement, or PEARS procedure) Healthy controls: - Between 18-50 years of age
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria (both patients and healthy controls) will be excluded from participation in this study: - Contraindication for MR imaging - Mental retardation - Pregnancy, or planned pregnancy during study period
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| There are two main study parameters end points: 1. The difference in 3D aortic displacement expressed in mm, OSI (dimensionless) and PWV (m/s) between MFS patient and healthy control aortas. 2. Change in 3D aortic displacement expressed in mm, OSI (dimensionless) and PWV (m/s) between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. Differences in advanced MRI parameters (displacement, OSI and PWV) between MFS patients who have had aortic root replacement and MFS patients with a native aorta. 2. Differences in advanced MRI parameters(displacement, OSI and PWV) between high and low risk MFS patients based on aortic sinus diameter >4.5cm and | — |
Countries
Netherlands
Outcome results
None listed