Mount Sinai Heart Center for Fibromuscular Dysplasia Care and Research
The prevalence, cause, prognosis, and optimal treatment of fibromuscular dysplasia (FMD) is not known. Despite an improved clinical understanding of the disease, through initiatives such as the United States Registry for FMD, there has been little progress in understanding the biologic cause of FMD since its first description in 1938. Data from the registry suggests that many patients had subtle manifestations of FMD for years before diagnosis and treatment.
There are a number of similar features that occur in family members of patients with FMD. This suggests that genetics play a significant role in the cause and/or predisposition for developing FMD.
We have created “The Mount Sinai Heart Center for Fibromuscular Disease Care and Research” with the goal of determining the cause and full clinical spectrum of FMD.
Our current research projects are listed below:
“Define-FMD” (Defining the Basis of Fibromuscular Dysplasia) As suggested by the name “Fibromuscular Dysplasia”, it is highly likely that fibroblasts play an important role in the development of FMD. In the “Define-FMD” study, we take a small piece of skin from the upper arm using a punch biopsy under local anesthetic (similar to a dermatologist removing a mole). From this skin, we are able to grow fibroblasts in the laboratory. The accompanying figure shows what fibroblasts look like after they grow in the laboratory. This important study began in early 2013 and we are aiming to collect fibroblasts from up to 200 FMD patients. We also draw a small sample of blood to collect DNA and plasma. The plasma sample allows us to measure the level of different hormones and proteins in the blood, while the DNA gives us the ability to investigate possible genetic causes of FMD, which can be linked back to what we see in the fibroblast cells. This study will also use several other cutting-edge research techniques such as “proteomics” and “bioinformatics” in an effort to provide a better understanding of the cause of FMD. Jason Kovacic, M.D., Ph.D. is leading this part of the FMD research. He is an outstanding scientist and interventional cardiologist and is a faculty member in Mount Sinai Heart. He has a particular interest in cell-based therapies for the treatment of vascular disease. Valentina d’Escamard will play a vital role in his lab for the processing of cellular and blood plasma procedures outlined above.
Characterization of Carotid Artery Plaque in Patients with Fibromuscular Dysplasia by Magnetic Resonance Imaging We have observed that a large number of patients with FMD have what appears to be a “plaque” on the carotid ultrasound. This is unusual since the average age of at FMD diagnosis is about 52 years. Many patients with FMD have no or few cardiovascular risk factors. The aim of this study is to characterize the amount and nature of this material in the carotid arteries in patients with FMD using a high tesla research MRI. Dr. Zahi Fayad is an international expert on MRI and vascular disease and he will be performing the MRI exams. Our goals will be (1) to quantify the amount and composition of plaque (or whatever this material is) from FMD patients as compared to subjects without FMD (2) to identify the cardiovascular disease risk factor profile of FMD subjects versus those without FMD as it relates to the amount of atherosclerosis identified. This study will be restricted to FMD patients with medial fibroplasia (string of beads) who have never smoked. Participants will undergo laboratory testing to assess kidney function prior to MRI imaging, and complete a clinical questionnaire. The MRI exam involves three modalities to assess carotid 3D imaging, plaque components, and plaque vasculature requiring approximately 1.5 – 2 hours per imaging session.
Complete Phenotypic Description of Patients with FMD
We have developed an electronic database for all of our patients with FMD. This is a much more detailed database than we are able to collect in the FMD registry and will allow us to answer a number of questions that have arisen from the information gleaned from the U.S. Registry for FMD. We will follow our patients over time and survey their medical progress, with the goal of learning how FMD behaves clinically over time and prospectively determine the natural history (clinical course) and results of therapy in FMD patients. The major strength of this approach is that we will be able to examine how biologic and genetic aspects of FMD translate into clinical manifestations of FMD.
United States Registry for Fibromuscular Dysplasia – Enrollment Site
The Mount Sinai Medical Center in New York, NY is one of thirteen enrollment centers in the nation. Dr. Jeffrey W. Olin is the principal investigator for this study and we will continue to work hard to enter all new patients into the registry.
If you are interested in learning more about the studies outlined above, please contact Drs. Jeffrey W. Olin and Daniella Kadian-Dodov at the Mount Sinai Medical Center (emails listed below).
Jeffrey W. Olin, DO firstname.lastname@example.org
Daniella Kadian-Dodov, MD email@example.com