Defining the Basis of Fibromuscular Dysplasia (FMD)

Specific aims

• Specific aim 1: To establish a library of fibroblasts, DNA, plasma and serum from patients with FMD, SCAD and CvAD and unaffected healthy control subjects.
• Specific aim 2: To perform a fully powered cross-tissue systems analysis of the key regulatory gene networks and disease drivers underlying FMD, SCAD and CvAD.
• Specific aim 3: To cross-compare the molecular and genomic profiles of FMD, SCAD and CvAD to establish the degree of biologic similarity among these disorders.

Inclusion criteria

• Patients of any age and freely willing to participate. For patients < 18 years of age consent will be via parents.
• Fluency in either English or Spanish.
• Signed, informed consent
• For FMD, SCAD or CvAD subjects - a clinical diagnosis of FMD, SCAD or CvAD with fulfillment of standard diagnostic criteria.
• For healthy controls - no clinical features of FMD, SCAD or CvAD and absence of any major ongoing systemic disease including any condition requiring hospitalization, immune suppression, intravenous or injected medications or that result in functional impairment in the performance of activities of daily living. Healthy controls will be matched to enrolled FMD patients on the basis of gender and approximate age (within a 5 year window of another FMD subject).

Exclusion criteria

• Patients who have co-morbidities which reduces life expectancy to one year.
• Patients with any solid organ or hematological transplantation, or those in whom transplantation is considered.
• Active autoimmune disease.
• Illicit drug use.
• HIV positive.
• Prior malignancy.
• Any other form of vascular disease, including other arteriopathy coronary artery disease or peripheral vascular disease
• Family history of arteriopathy other than FMD, SCAD or CvAD (e.g. Ehlers-Danlos syndrome)