Fibromuscular Dysplasia and Heart Disease

Fibromuscular dysplasia (FMD) is a disease that affects the arteries. Many doctors are not very familiar with it, and there is often a long time between the first symptom or sign and the diagnosis of FMD. It is different from commonly known disorders such as atherosclerosis (blockage of the arteries due to plaque), vasculitis (inflammation of the arteries), or thrombosis (the formation of blood clots). Mount Sinai Fuster Heart Hospital physicians and scientists are globally renowned in the detection and treatment of FMD.  While many consider FMD a rare disease, there is good scientific evidence that it may affect up to 5 percent of the female population (the vast majority of patients are women).

“We often call FMD the most common disease you’ve never heard of,” says Jeffrey W. Olin, DO, Director of Vascular Medicine and the Vascular Diagnostic Laboratory in The Zena and Michael A. Wiener Cardiovascular Institute and The Marie-Josée and Henry R. Kravis Center for Cardiovascular Health of The Mount Sinai Hospital.

What is Fibromuscular Dysplasia?

Fibromuscular dysplasia is a disease that occurs predominantly in women. According to the United States Registry for FMD, 95 percent of all patients are female. In the most common type of FMD, known as multifocal FMD, there are abnormal changes in the walls of the blood vessels, causing the artery to look like a “string of beads,” with areas of narrowing followed by areas of enlargement.

In a less common type of FMD, focal FMD, there is a single focal area of narrowing in the artery. While the average age for diagnosis of multifocal FMD is 52, focal FMD is often encountered between the ages of 25 and 30. 

Several findings may occur in patients with FMD:  

• Dissection of a blood vessel. A dissection is a tear and separation of the arterial wall layers or the formation of a collection of blood between the arterial wall layers, leading to severe narrowing of the vessel and blood clot formation. When this occurs in the arteries in the neck, it can lead to stroke. A dissection in the neck arteries is called cervical artery dissection (CvAD). When this occurs in the arteries to the heart, it may cause a heart attack or even sudden cardiac death. A dissection in the heart arteries is called spontaneous coronary artery dissection (SCAD). Both CvAD and SCAD may be manifestations of  FMD.
• Aneurysm of a blood vessel. In an aneurysm, the walls of the artery become weak and balloon out, causing an enlargement of the vessel. This can occur in any artery in the body and, when unrecognized, can lead to rupture, which could cause a stroke or death. Approximately 26 percent of patients with FMD have a dissection in at least one location and 22 percent have an aneurysm. 
• Arterial tortuosity occurs in about one-third of all patients with FMD. Normal arteries are straight “pipes” of blood flow, but in FMD (and certain other conditions) they become very curvy.

Signs and Symptoms

The signs and symptoms of FMD vary based on the arteries that are affected, making a diagnosis complicated. Often, FMD is detected in the arteries leading to the brain or kidneys, but it may occur in any artery. Some common symptoms include:

• High blood pressure: this is very common when there is FMD in the arteries that supply blood to the kidneys
• Migraine headaches
• A swooshing or whooshing sound in the ears, called pulsatile tinnitus
• Dizziness
• Heart attack or stroke, if dissection or aneurysm rupture occur

FMD should be considered in the following circumstances:

Any patient with a stroke or heart attack at age less than 60, an aneurysm, dissection, arterial tortuosity, pulsatile tinnitus, or high blood pressure that cannot be adequately controlled.   

Also, patients with cervical (neck) or abdominal bruits (an abnormal whooshing sound detected with a stethoscope, indicating turbulence of blood flow in the arteries) should be further investigated with imaging. However, the absence of a bruit does not exclude the diagnosis of FMD.

Diagnosis and Treatment

If for any reason you suspect you have FMD, ask your doctor to check for bruits while listening to your neck and abdomen with a stethoscope. Noninvasive imaging tests such as a computed tomography (CT) scan or magnetic resonance imaging (MRI) can measure the extent of the arteries’ narrowing and locate aneurysms and dissections.

Sometimes treatment is as simple as monitoring you with yearly ultrasound examinations. Medications may be prescribed to manage high blood pressure or migraine headaches. Frequently, patients will be asked to take aspirin to prevent stroke.

If there is a severe blockage of an artery, tearing, or an aneurysm, catheter-based intervention may be required. Some catheter-based procedures might include:

• Angioplasty: A minimally invasive procedure that uses a balloon to open narrowed arteries
• Stent: A tiny tube that is inserted to increase flow in a blocked artery
• Treatment for aneurysm may include vascular coils or covered stents: these are inserted through a catheter to block blood flow to an aneurysm. In some instances, a surgical procedure is required to treat an aneurysm. 

Why Choose Mount Sinai

Mount Sinai Fuster Heart Hospital physician-scientists are at the forefront of studying and treating fibromuscular dysplasia. Dr. Olin is an internationally recognized authority in vascular medicine and FMD, pioneering a national registry for FMD patients. Daniella Kadian-Dodov, MD, published the landmark paper showing that patients with FMD have a high likelihood of having an aneurysm and/or dissection. Jason Kovacic, MD, PhD, has led several important research studies contributing to our understanding of this disease as well as other cardiovascular diseases. Together with other Mount Sinai doctors and researchers, they have revolutionized both the understanding and treatment of the disease over the past decade. In addition to our physicians, our program has dedicated nurse practitioners to help plan new patient visits, screenings, biopsies, etc.

• Annette King
• Kimberly Capustin

The doctors at Mount Sinai Fuster Heart Hospital see a large number of patients each year for fibromuscular dysplasia, and are highly experienced in diagnosing and treating the disease. And because FMD often appears elsewhere in the body, you have access to specialists throughout the Mount Sinai Health System who can coordinate with your care plan.