Marfan Syndrome is a rare genetic disorder affecting about one in 5,000 people in the U.S. People born with this inherited condition have a mutation in the FBN1 gene that makes fibrillin, the substance that gives the strength and elasticity of our connective tissue. In short, without this gene, the connective tissues holding together our bones, tendons, cartilage, teeth, eyes, and blood vessels become weak, which can severely impact the heart.
Both men and women can inherit Marfan Syndrome. It’s known as a “variable expression” genetic disorder, meaning each person will experience different symptoms. Yet there are some distinctive characteristics of Marfan Syndrome, such as taller than average height compared to their relatives; disproportionately long arms, legs, and fingers; thin build, crowded teeth, and a spine that curves either inward or outward. Although most people born with Marfan Syndrome are diagnosed later in life, they will require constant monitoring of their heart function to prevent cardiac failure.
Marfan Syndrome and the Heart
Because it is a connective tissue defect, Marfan Syndrome weakens the aorta, which is the main artery that carries blood from the heart to the entire body. A malfunctioning aorta can result in serious complications, such as an enlarged aorta, an aortic aneurysm (a bulge in the aorta), or a rupture or dissection of the aorta leading to bleeding.
Of those possibilities, a rupture of the ascending aorta is potentially life-threatening without immediate surgery. A rupture of the descending aorta can be managed with medication and regular monitoring.
Another heart-related effect of Marfan Syndrome is mitral valve prolapse or mitral valve regurgitation. When this happens, the mitral valve doesn’t close completely and blood leaks into the heart. Mitral valve prolapse causes shortness of breath and rapid heartbeat and may require surgery to correct.
Diagnosing & Treating Marfan Syndrome
To diagnose Marfan Syndrome, a cardiologist will do a physical exam of your heart and blood vessels. A chest X-ray, electrocardiogram (EKG), and an echocardiogram may be performed to get a closer look at the heart. Genetic testing may be recommended, but results may be inconclusive because it’s difficult to pinpoint which gene mutation is causing the condition. Other family members may also need to be tested to confirm a genetic link.
Marfan Syndrome doesn’t require medication to manage, but those with the disorder should track any changes in heart function. In some cases, patients may be prescribed a beta-blocker to control the pressure in the arteries and relax the heart to prevent the aorta from enlarging. If a patient cannot take a beta-blocker, they will be given an angiotensin receptor blocker, often used to treat hypertension.
To prevent an aortic rupture, a patient may need surgery. Whether to undergo the surgery depends on a number of factors, such as the size of the aorta or if the aorta is rapidly enlarging. A mitral valve can also be repaired or replaced if the valve is leaking blood into the heart, which could lead to heart failure.
Women with Marfan Syndrome are advised to undergo genetic counseling if they wish to become pregnant. A pregnant woman with Marfan Syndrome is considered high risk because of the stress of the pregnancy. However, expectant mothers can carry their child to term with close monitoring of their blood pressure and regular echocardiograms.
People with Marfan Syndrome can live normal lives with regular checkups by a cardiologist and lifestyle changes. Although high-intensity workouts such as weightlifting or contact sports are not recommended, they can exercise. Because those with Marfan Syndrome stand a higher risk of an infection of the heart, they must take antibiotics before any dental or surgical procedure. Otherwise, with the help of their cardiologist, Marfan Syndrome patients can enjoy a productive and active lifestyle.
Let’s Check Your Heart
Tri-City Cardiology specializes in heart health. If you suspect you may have Marfan Syndrome or are having other symptoms of heart disease, our physicians can diagnose your condition and develop a treatment plan. Your heart is too important to ignore, so contact us today for a consultation!