Marfan's syndrome is an inherited connective tissue disorder that can weaken the walls of your aorta and affect your heart valves. Over time, this can lead to an enlarged aorta, aneurysm, or tear. At Signet Heart Group, our cardiologists monitor your heart and aorta with regular imaging and help you manage your risk with personalized, long-term care.
What is Marfan's Syndrome
Marfan's syndrome is a genetic disorder that weakens the connective tissues which support the parts of the body, leading to structural problems in the eyes, bones, joints, lungs, and heart and blood vessels. Connective tissue damage in the heart and blood vessels (aortic involvement) is very common in a majority of the Marfan's syndrome patients. Aortic involvement leads to the dilation of the aorta (aortic enlargement) and possibly aortic rupture, a life-threatening emergency.
Causes and risks of Marfan's Syndrome
Marfan's syndrome occurs as a result of a mutation in a gene called fibrillin-1 that codes for the majority of the connective tissue in the body. The syndrome is inheritable, so people who have a family history of Marfan's syndrome are at high risk for the condition.
Symptoms of Marfan's Syndrome
Marfan's syndrome is manifested by the presence of symptoms such as near-sightedness, and a tall, thin physique with long hands, legs, fingers and toes. With advancing age, connective tissue damage progresses and the associated symptoms become more noticeable.
Aortic involvement in a Marfan's syndrome patient is characterized by a weakened and enlarged aorta that can tear and leak blood on physical exertion, leading to a life-threatening emergency that necessitates immediate surgical intervention.
The common symptoms associated with aortic involvement are:
- Severe pain in the chest
- Abdominal pain
- Numbness in the legs
- Loss of consciousness
Mitral valve prolapse (collapse), left ventricle dilation, and pulmonary artery dilation is the other cardiac problems due to aortic involvement in Marfan's syndrome.
Diagnosis of Marfan's Syndrome
Marfan's syndrome is diagnosed based on a physical examination and medical history review. Your physician will suggest an echocardiogram, magnetic resonance imaging (MRI) and computed tomography (CT) check the aortic enlargement, and an electrocardiogram (ECG) to check your heart rate and rhythm.
Treatment for Marfan's Syndrome
Although Marfan's syndrome has no cure, most of the symptoms are manageable and treatable. To manage cardiovascular problems, your physician will prescribe medications (beta-blockers and calcium channel blockers) to slow down the expansion of the aorta by reducing the pressure within the arteries.
In severe cases, aorta surgery is recommended to prevent the tear or rupture of the aorta. Aorta surgery includes the replacement of the damaged aorta and aortal valve with graft and a mechanical valve. You will require regular visits to your physician who will keep a check on further problems with your aorta.
Why Choose Signet Heart Group for Marfan's Syndrome
Marfan's syndrome calls for steady, lifelong heart monitoring. Here is what our team provides:
- Ongoing aortic and valve imaging: We use echocardiography and other imaging to track the size of your aorta and the function of your heart valves over time.
- Vascular and structural expertise: Our team includes cardiologists with board certification in endovascular disease and advanced training in structural heart disease.
- Blood pressure and heart rate control: We use medication and lifestyle guidance to reduce stress on your aorta.
- Care close to home: You can be seen in Sherman, Anna, or Dallas, Texas, or Durant, Oklahoma, and we are affiliated with several hospitals in the North Dallas Metroplex.
Marfan's Syndrome FAQs
How does Marfan's syndrome affect the heart?
It can cause the aorta to stretch and weaken, which raises the risk of an aneurysm or aortic dissection. It can also affect the mitral and aortic valves.
How often should my aorta be checked?
Most people with Marfan's syndrome need imaging of the aorta at least once a year, and sometimes more often. Your cardiologist will set a schedule based on your measurements.
Should my family members be screened?
Because Marfan's syndrome is inherited, your parents, siblings, and children may benefit from an evaluation. Talk with your doctor about genetic counseling and screening.
Are there activities I should avoid?
Many people with Marfan's syndrome are advised to avoid heavy lifting and intense contact or competitive sports. Your cardiologist can help you choose safe ways to stay active.
Schedule Your Visit
If you or a family member has Marfan's syndrome, call Signet Heart Group at or request an appointment online at our offices in Sherman, Anna, or Dallas, Texas, or Durant, Oklahoma.
