Skip to main content UVA Health logo of UVA Health
Healthy Balance

How Does Marfan Syndrome Affect the Heart? Connective Tissue Disorders & Heart Disease: What You Need to Know

How does Marfan syndrome affect the heart? A woman sitting on a couch with her hand on her chest. She looks in distress.

Connective tissue is found all throughout your body. It’s like a glue that holds your body together. It supports everything from skin to muscles and organs. Connective tissue disorders cause connective tissue to not work correctly. It can be more stretchy or weaker than in other people (although that's not the only way it can be affected).

When you have one of these disorders, you can have symptoms or conditions like those seen with other health issues. That includes symptoms affecting your heart and blood vessels. And those heart symptoms can be serious, even life-threatening, if ignored.

Because connective tissue is everywhere in your body, connective tissue disorders can affect many parts of you. The symptoms can be hard to connect. For people with the more common connective tissue disorders, it might seem like their only symptom is stretchy, or hypermobile, joints.

“There are a number of manifestations you may see across the entire spectrum of connective tissue disorders,” notes Kenan Yount, MD, a heart disease specialist and surgeon at UVA Health. “There are folks who may have had hyperflexible joints as a kid. Sometimes they may have been more likely to break bones, have cartilage tears, or have a sunken-in chest, known as pectus excavatum.”

Connective Tissue Diseases That Affect Your Heart

There are different types of connective tissue disorders that can impact your heart and blood vessels. “The classic diseases we think of are Marfan syndrome, Ehlers-Danlos, or Loeys-Dietz,” says Yount.

These conditions are genetic, meaning that your DNA is causing the problem. The genes causing your connective tissue disorder may have been passed down to you by your family. But that isn't the case for everyone.

Marfan Syndrome

Marfan syndrome affects the proteins that make up your connective tissue. That makes it weaker. Besides your heart, it can also cause problems in your bones, eyes, and skin.

How Does Marfan Syndrome Affect the Heart & Blood Vessels?

Since your blood vessels are more stretchy, you’re more likely to get an aneurysm. An aneurysm happens when a weak spot in a blood vessel starts to bulge out like a balloon. That bulge can break or leak, causing an emergency called aneurysm rupture. They can happen in your aorta, the largest blood vessel in your body.

Marfan syndrome can also affect your heart valves and can cause problems with your heart rhythm (called arrhythmia).

Loeys-Dietz Syndrome (LDS)

LDS also makes connective tissue weaker and stretchier. And it also causes issues with your bones, eyes, and skin.

How Does Loeys-Dietz Syndrome Affect the Heart & Blood Vessels?

Like with Marfan syndrome, Loeys-Dietz syndrome makes the walls of your blood vessels weaker. That makes your risk of aneurysms higher. Most people with LDS get aortic aneurysms.

Aneurysms can happen in other arteries around your body as well. And, your arteries may be more twisted than in other people (called arterial tortuosity). 

If you have LDS, you should be checked by a heart disease specialist soon after your diagnosis to figure out your risk of an aneurysm rupture.

Ehlers-Danlos Syndromes (EDS)

EDS is a group of genetic disorders that make connective tissues weaker, affecting many parts of the body. The most common signs of it are overly flexible joints and stretchy or fragile skin.

How Does Ehlers-Danlos Syndrome Affect the Heart and Blood Vessels?

The most serious form, vascular EDS, can lead to artery ruptures, including in the aorta. If you have it, you should be closely watched by your heart doctor to catch any signs of aneurysms early.

With all forms of EDS, you might also have valve issues or rhythm problems.

Your Aorta Can Cause a Serious Emergency

Have a Connective Tissue Disorder?

As part of your care, it's important to keep an eye on your heart. Our heart disease specialists are here to answer your questions and help you stay healthy.

People with a connective tissue disorder often need regular check-ups to watch the size of their aorta. Whether or not you have a connective tissue disorder, aneurysms in your aorta need to be watched by a heart disease specialist.

A rupture of an aortic aneurysm, also called aortic dissection, is a serious emergency that can quickly lead to death.

Signs You Have Connective-Tissue Related Heart Disease

What symptoms you get depend on where you’re having an issue. But you would likely have some typical heart disease symptoms, like:

Often, people with connective tissue disorders need treatment for heart problems earlier than folks without these disorders. How you’re treated depends on what issue you have and how severe it is.

Don't Ignore the Signs of Heart Disease

If you have an aneurysm, watching it is important. Yount notes, “It really depends on our team's review of a patient's records and their studies, and their overall risk of aneurysm degeneration as to what we feel is appropriate for them.”

Heart issues can add up over time and lead to heart failure. That’s when your heart can’t pump enough blood around your body to deliver oxygen to your organs.

Regular check-ups can help catch heart issues early, so they don’t become bigger problems.

If you’re diagnosed with a connective tissue disorder, it’s important to see a number of doctors to make sure you stay healthy. “For patients with a genetic disorder, like Loeys-Dietz for example, a cardiac surgeon, a vascular surgeon, a neurosurgeon, an interventional radiologist, and a geneticist may all be involved in their care at one point,” says Yount.

Staying Healthy With a Connective Tissue Disorder

Living with a connective tissue disorder can be challenging, but a few healthy habits can go a long way in protecting your heart:

Reply & View Comments Search Submit

Subscribe for Updates

Get stories & health tips every week