Everyone has connective tissue that holds your body together and supports its various structures. This connective tissue supports, binds, and separates your organs and other tissues. Unfortunately, some conditions attack this vital tissue. One of these conditions is Marfan syndrome – also called Marfan's syndrome. 

“Marfan syndrome is a condition characterized by the potential for aneurysms or enlargements of the aorta – which is the main blood vessel in the body," says cardiologist Angela Yetman, MD. "If the aorta becomes significantly enlarged (called an aneurysm), it's prone to tear (called a dissection) or rupture, which can lead to death.” 

Typical features of Marfan syndrome

Because of this potential danger, it's essential to diagnose a patient with Marfan syndrome before they develop a dissection or rupture. Early diagnosis is lifesaving. To better recognize Marfan syndrome, it's necessary to know some typical features of the condition, which can include:

• Having a taller-than-typical body (taller than other family members).
• Abnormalities of the chest wall – it either sinks in or sticks out (called a pectus deformity).
• A curvature of the spine – called scoliosis. 
• Unusually long arms, fingers, legs or toes. 

Note that while these features may signal you have Marfan syndrome, some patients don't have such prominent physical characteristics associated with the condition. 

Diagnosing Marfan syndrome

“The first step to diagnosing Marfan syndrome is to be aware of it," says Dr. Yetman. Marfan syndrome is a genetic disorder that runs in families. In 75% of cases, there is an affected parent. So, knowing your family history is key. If there is a family history of aneurysms, diseases of the aorta or sudden death outside of the hospital prior to age 60, you should bring this information to the attention of your health care provider.

Your provider can then refer you for cardiovascular genetic evaluation.  Through genetic testing, they can confirm the condition via a DNA swab from inside your mouth. “Genetic testing allows us to look for many different genes that cause aortic aneurysms," says Dr. Yetman. 

Marfan syndrome is only one of many different genetic conditions associated with aortic aneurysms. “Today, we know there are other conditions with physical features that overlap with Marfan syndrome,” says Dr. Yetman. “These other conditions may have similar outward physical features but may be more or less aggressive than Marfan syndrome." With genetic testing, your provider can tailor your treatment to the specific gene you have. 

Treating Marfan syndrome

As mentioned, completing a genetic test will help your provider determine the best course of action for treating your condition – Marfan syndrome or one of the other genetic aortic conditions. "We recommend preventive surgery if you have Marfan syndrome and your aorta becomes as large as 5 centimeters," says Dr. Yetman.

“Still, there are other conditions that look like Marfan syndrome but are more aggressive. For these conditions, we sometimes recommend surgery for an aorta as small as 4.2 centimeters, which is why knowing the underlying genetic cause is so important," says Dr. Yetman. 

Note that the preferred surgery for Marfan syndrome – a valve-spearing aortic root replacement – is a complex surgery involving sparing the valve and replacing the aorta. "It should be done at a center of excellence," says Dr. Yetman. "It's not a surgery you should receive anywhere, but in experienced hands, providers can allow the patient to keep their aortic valve and avoid the long-term complications associated with valve replacement surgery.” 

If a patient has some aortic enlargement but doesn't quite need surgery yet, they can use medications and lifestyle management to try to stabilize the aorta so it doesn't get any bigger. "If we can safely postpone surgery, we always try to do so," says Dr. Yetman. "Medicine and surgical techniques are always becoming more advanced.”

You can implement several methods to help stabilize your aorta's size. "We have several medications that stabilize the size of the aorta, in part, by reducing blood pressure, but also work in those without high blood pressure," says Dr. Yetman. 

Another therapy is smoking cessation, as smoking or vaping is hard on the aorta and can make a difference whether you end up needing surgery or not. Patients must also avoid other specific things, like the class of antibiotics called fluoroquinolones, commonly used for pneumonia or sinus infections, as they can lead to enlargement of the aorta. 

Finally, exercise is vital for aortic health. "We encourage patients to stay active provided that their aorta has not yet reached a size where surgery is necessary. An exception to this advice is weightlifting. Health care providers discourage recreational weight lifting and other ‘isometric’ activities for patients with, or at risk for, aortic enlargement as it's associated with marked increases in blood pressure, which can cause aortic dilation or a rupture," says Dr. Yetman. 

Marfan syndrome and pregnancy

Health care providers consider those with Marfan syndrome who become pregnant to be at high risk for complications during pregnancy. Consequently, providers recommend pre-pregnancy counseling with a provider knowledgeable about Marfan syndrome. Discussing the risks and alternatives to pregnancy will allow you to make an informed decision. 

"Many women with Marfan syndrome and an aortic size less than 4 centimeters will have an unremarkable pregnancy with a low risk of complications provided they are receiving close follow-up by a cardiologist during pregnancy," says Dr. Yetman. 

For patients with an aortic diameter of more than 4 centimeters, the risks of complications to both mother and baby are increased. Before becoming pregnant, you should carefully discuss these risks with the cardiologist and high-risk OB team. In some instances, aortic replacement surgery is recommended prior to pregnancy to lower the risks of an aortic complication," says Dr. Yetman.

Ultimately, women with Marfan syndrome can generally get through a pregnancy safely. However, because it's a condition that runs in families, there's a 50/50 chance of having a baby with Marfan syndrome. 

Recognizing Marfan syndrome

Although it may have been previously accurate, not all patients with Marfan syndrome are tall and skinny. "The whole world is facing an obesity epidemic, so patients with Marfan syndrome are just as likely as those without it to become obese with age," says Dr. Yetman. 

Recognizing and properly diagnosing Marfan syndrome is crucial in treating the condition. "Patients who know they have Marfan syndrome and receive regular follow-ups can expect a normal lifespan," says Dr. Yetman. 

Patients who don't know they have the condition – or know and don't follow up with their provider run into problems. "Your aorta can enlarge without it causing any symptoms, so if you wait until you experience symptoms, it may be when your aorta tears and that's often too late," says Dr. Yetman.