Marfan Syndrome
Conditions
Keywords
Magnetic Resonance Imaging, Aortic disease
Brief summary
The purpose of this study is to determine whether new magnetic resonance imaging techniques can be used as a biomarker of aortic disease severity in patients with Marfan syndrome.
Interventions
3D CINE and 4 dimensional (4D) flow MRI sequence
Sponsors
Netherlands Organisation for Scientific Research
Academisch Medisch Centrum - Universiteit van Amsterdam (AMC-UvA)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 50 Years
Healthy volunteers
Yes
Inclusion criteria
* MFS patients with a known FBN1 mutation * Between 18-50 years of age
Exclusion criteria
* Contraindication for MR imaging * Mental retardation * Pregnancy, or planned pregnancy during study period Additional
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Difference in 3D aortic displacement in millimeters between Marfan patients (MFS) and healthy volunteers. | Baseline | aortic displacement in the thoracic aorta. normal values unknown, but single paper: Marfan patients range: 1.77 to 10.03 millimeters, volunteers 7.34 ± 1.69 millimeters. lower is worse. |
| Difference in pulse wave velocity, in meters per second between Marfan patients and healthy volunteers. | Baseline | pulse wave velocity expressed in m/s in the thoracic aorta, normal values age dependent: but range +/- 4 - 30 m/s, higher is worse |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients and healthy volunteers | Baseline | oscillatory shear index (dimensionless) in the thoracic aorta, range between 0 - 0.5 (No normal values defined), higher is worse |
| Change in aortic displacement expressed in millimeters , between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | Change from baseline to 6 months after surgery | aortic displacement expressed in millimeters in the thoracic aorta. Pre-post change unknown, however operated 3.60 +/- 1.0 millimeter versus native aorta 7.01 +/- 3.09 millimeters. Lower is worse |
| Change in aortic pulse wave velocity (meters/second), between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | Change from baseline to 6 months after surgery | pulse wave velocity in the thoracic aorta expressed in meters/second. Higher is worse. normal values for change unknown. |
| Change in oscillatory shear index (dimensionless) between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | Change from baseline to 6 months after surgery | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse range between 0 -5. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Difference in pulse wave velocity, expressed in m/s between Marfan patients with an aortic root diameter >4.5 cm versus <4.5 cm | Baseline | pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown. |
| Difference in pulse wave velocity, expressed in m/s between Marfan patients with a haploinsufficient fibrillin-1 mutation versus a dominant negative mutation | Baseline | pulse wave velocity expressed in m/s in the thoracic aorta. Higher is worse. Normal values unknown. |
| Difference in pulse wave velocity, expressed in m/s between male and female Marfan patients | Baseline | pulse wave velocity expressed in m/s in the thoracic aorta Higher is worse. Normal values unknown. |
| Difference in pulse wave velocity, expressed in m/s between Marfan patients based on antihypertensive medication used | Baseline | pulse wave velocity expressed in m/s in the thoracic aorta |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with and without a native aorta | Baseline | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. |
| Difference in 3D aortic displacement expressed in mm between Marfan patients with and without a native aorta | Baseline | aortic displacement in the thoracic aorta, lower is worse. operated 3.60 +/- 1.0 millimeter versus native aorta 7.01 +/- 3.09 millimeters |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation | Baseline | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between male versus female Marfan patients | Baseline | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients based on antihypertensive medication used | Baseline | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. |
| The correlation between regional wall shear stress and elastic fibre thickness in resected aorta tissue of MFS patients. | Baseline MRI with aortic surgery tissue | Correlation of locally MRI measured wall shear stress and histologic findings in the thoracic aorta. Neither is worse. Normal values dependent on location of measurement, exploratory outcome. . |
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm | Baseline | oscillatory shear index (dimensionless) in the thoracic aorta. Higher is worse. Normal values unknown. |
| Difference in 3D aortic displacement expressed in mm between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm | Baseline | aortic displacement in the thoracic aorta, lower is worse. Normal values unknown. |
| Difference in 3D aortic displacement expressed in mm between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation | Baseline | aortic displacement in the thoracic aorta. Lower is worse. Normal values unknown. |
| Difference in 3D aortic displacement expressed in mm between male versus female Marfan patients | Baseline | aortic displacement in the thoracic aorta,Lower is worse. Normal values unknown. |
| Difference in 3D aortic displacement expressed in mm between Marfan patients based on antihypertensive medication used | Baseline | aortic displacement in the thoracic aorta, Lower is worse. Normal values unknown. |
| Difference in pulse wave velocity, expressed in meters per second between Marfan patients with and without a native aorta | Baseline | pulse wave velocity expressed in m/s in the thoracic aorta, Lower is worse. Normal values unknown. Single study in general aneurysm population: pre surgery: 18.0 +/-4.0 meters per second post surgery 20.6 +/- 6.0 meters per second. higher is worse |
Countries
Netherlands
Outcome results
None listed