Development of a Blood Test for Marfan Syndrome

The primary objective of this study is to determine whether increased quantitites of
circulating microfibril fragments, measured with a simple blood test, are associated with
aortic root size and increased growth of the aortic root in Marfan syndrome and related
disorders. The secondary objectives of this study are to: (1) Determine a Marfan "signature"
profile of circulating microfibril fragments. (2) Determine if high concentrations of
fibrillin-1 fragments are associated with large aortic root diameters. (3) Determine which
fibrillin-1 fragments are good biomarkers for aortic root growth and size in Marfan
syndrome. (4) Determine the relation between fibrillin-1, aortic root diameter, and medical
and lifestyle factors reported on questionnaires.

Inclusion Criteria:

- Age 4-26 years of age for all participants

- Diagnosis of Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,
or Familial Thoracic Aortic Aneurysm and Dissection for inclusion in Marfan and
Marfan-related disorders groups

- Diagnosis of unaffected by Marfan syndrome and Marfan-related disorders for inclusion
in control group

- Able and willing to sign informed consent/assent

- Signed HIPPA compliant research authorization

Exclusion Criteria:

- Other known cardiovascular disorder for unaffected controls