Towards Optimal Treatment of Marfan Syndrome

Study Overview
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Brief Summary
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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.

Official Title
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Towards Optimal Treatment of Marfan Syndrome

Conditions
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Marfan Syndrome

Intervention / Treatment
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* Other: Magnetic Resonance imaging examination


Participation Criteria
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Eligibility Criteria
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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 exclusion criteria healthy controls: - History of aorta disease

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Marfan Syndrome patients<br>Marfan Syndrome patients age 18-50 with a pathological FBN1 mutation | Other: Magnetic Resonance imaging examination<br>* 3D CINE and 4D flow MRI sequence<br>|
| Healthy volunteers<br>Age and gender matched healthy control patients without a history of aortic disease. | Other: Magnetic Resonance imaging examination<br>* 3D CINE and 4D flow MRI sequence<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Difference in 3D aortic displacement expressed in mm between Marfan patients and healthy volunteers | aortic displacement in the thoracic aorta | Baseline | 
| Difference in pulse wave velocity, expressed in m/s between Marfan patients and healthy volunteers | pulse wave velocity expressed in m/s in the thoracic aorta | Baseline | 
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients and healthy volunteers | oscillatory shear index (dimensionless) in the thoracic aorta | Baseline | 
| Change in aortic displacement expressed in mm, between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | aortic displacement expressed in mm in the thoracic aorta | Change from baseline to 6 months after surgery | 
| Change in aortic pulse wave velocity, between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | pulse wave velocity in the thoracic aorta | Change from baseline to 6 months after surgery | 
| Change in oscillatory shear index (dimensionless) between MFS patient aortas prior to compared to after PEARS procedure or conventional aortic surgery. | oscillatory shear index (dimensionless) in the thoracic aorta | Change from baseline to 6 months after surgery | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Difference in 3D aortic displacement expressed in mm between Marfan patients with and without a native aorta | aortic displacement in the thoracic aorta | Baseline | 
| Difference in 3D aortic displacement expressed in mm between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm | aortic displacement in the thoracic aorta | Baseline | 
| Difference in 3D aortic displacement expressed in mm between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation | aortic displacement in the thoracic aorta | Baseline | 
| Difference in 3D aortic displacement expressed in mm between male versus female Marfan patients | aortic displacement in the thoracic aorta | Baseline | 
| Difference in 3D aortic displacement expressed in mm between Marfan patients based on anithypertensive medication used | aortic displacement in the thoracic aorta | Baseline | 
| Difference in pulse wave velocity, expressed in m/s between Marfan patients with and without a native aorta | pulse wave velocity expressed in m/s in the thoracic aorta | Baseline | 
| Difference in pulse wave velocity, expressed in m/s between Marfan patients with an aortic root diameter >4.5 cm versus <4.5 cm | pulse wave velocity expressed in m/s in the thoracic aorta | Baseline | 
| Difference in pulse wave velocity, expressed in m/s between Marfan patients with a haploinsufficient fibrillin-1 mutation versus a dominant negative mutation | pulse wave velocity expressed in m/s in the thoracic aorta | Baseline | 
| Difference in pulse wave velocity, expressed in m/s between male and female Marfan patients | pulse wave velocity expressed in m/s in the thoracic aorta | Baseline | 
| Difference in pulse wave velocity, expressed in m/s between Marfan patients based on anithypertensive medication used | pulse wave velocity expressed in m/s in the thoracic aorta | Baseline | 
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with and without a native aorta | oscillatory shear index (dimensionless) in the thoracic aorta | Baseline | 
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with aortic root diameter >4.5cm versus <4.5 cm | oscillatory shear index (dimensionless) in the thoracic aorta | Baseline | 
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients with a haploinsufficient fibrillin 1 mutation versus dominant negative mutation | oscillatory shear index (dimensionless) in the thoracic aorta | Baseline | 
| Difference in oscillatory shear index (dimensionless) expressed in m/s between male versus female Marfan patients | oscillatory shear index (dimensionless) in the thoracic aorta | Baseline | 
| Difference in oscillatory shear index (dimensionless) expressed in m/s between Marfan patients based on anithypertensive medication used | oscillatory shear index (dimensionless) in the thoracic aorta | Baseline | 
| The correlation between regional wall shear stress and elastic fibre thickness in resected aorta tissue of MFS patients. | Correlation of locally MRI measured wall shear stress and histologic findings in the thoracic aorta | Baseline MRI with aortic surgery tissue | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Magnetic Resonance Imaging, Aortic disease