Marfan Syndrome & Heart Health: Understanding the Cardiovascular Impact

If you have been experiencing heart murmurs, irregular heartbeat, a tall and thin body frame, a chest that sinks, flat feet and more, you might have Marfan syndrome. 

Marfan syndrome is a multi-systemic genetic disorder. It affects connective tissue that supports the body’s organs and tissues. It most commonly affects the heart, eyes, blood vessels and skeleton. The condition is treatable with proper heart care. 

Let’s understand how Marfan syndrome influences heart health, the symptoms you should be aware of, and the available treatments that can significantly improve your quality of life.

Marfan Syndrome and Your Heart

Marfan syndrome is a condition that affects the body’s connective tissue. This tissue helps support organs, bones, blood vessels, and more. The condition is caused by a change in a gene called FBN1. This gene helps make a protein called fibrillin-1, which gives strength and flexibility to connective tissue. 

When this protein doesn’t work properly, it can affect many parts of the body. Marfan syndrome can impact the eyes, bones, and especially the heart and blood vessels. The heart is at higher risk because the aorta—the main artery that carries blood from the heart—is made of connective tissue. 

In Marfan syndrome, this tissue can be weaker than normal. Over time, it may stretch or tear, which can be very serious if not treated. That’s why it’s important to understand how Marfan syndrome affects the heart and to get regular check-ups. With the right care, many people with Marfan syndrome live long, healthy lives.

How Does Marfan Syndrome Affect the Heart?

The most serious complications of Marfan syndrome often involve the heart and blood vessels. These include:

1. Aortic Aneurysm and Dilation

One of the hallmark features of Marfan syndrome is the weakening and enlargement (dilation) of the aorta, especially the ascending aorta. Over time, this dilation can develop into an aortic aneurysm—a balloon-like bulge that poses a high risk of rupture or dissection (a tear in the inner layer of the artery wall).

2. Aortic Dissection

Aortic dissection is a medical emergency and a leading cause of death in people with untreated or undiagnosed Marfan syndrome. The tearing of the aorta can cause severe chest or back pain and can rapidly lead to internal bleeding, stroke, or sudden cardiac death.

3. Aortic Valve Regurgitation

As the aorta enlarges, the aortic valve (which controls blood flow from the heart into the aorta) may become distorted and fail to close properly. This condition is called aortic regurgitation, and it forces the heart to work harder to pump blood efficiently.

4. Mitral Valve Prolapse

Many individuals with Marfan syndrome also experience mitral valve prolapse (MVP), where one of the heart's valves does not close properly. This can cause blood to leak backward into the heart (mitral regurgitation), leading to symptoms such as palpitations or shortness of breath.

5. Arrhythmias

Irregular heart rhythms can also occur in Marfan syndrome, particularly when the heart’s structure is significantly affected. While not as common, these arrhythmias can be serious and require monitoring.

What Are the Symptoms of Marfan Syndrome Affecting the Heart?

Since Marfan syndrome affects individuals differently, cardiovascular symptoms can vary in severity and onset. Some people may remain asymptomatic for years, while others may experience noticeable heart-related issues early in life.

Common heart-related symptoms include:

• Chest pain (particularly with aortic dissection)
• Shortness of breath, especially during exertion
• Heart palpitations or irregular heartbeat
• Fatigue or reduced ability to exercise
• Syncope (fainting) due to reduced blood flow
• High blood pressure, especially in young individuals

It’s important to note that many of these symptoms are nonspecific, meaning they can be mistaken for other conditions. That’s why individuals with Marfan syndrome—or those with a family history—should undergo regular cardiovascular evaluations.

Treatments to Manage Heart Problems Related to Marfan Syndrome

While there is no cure for Marfan syndrome, proactive treatment and regular monitoring can significantly reduce the risk of severe cardiovascular complications.

1. Medications

Medications are often the first line of defence in slowing down aortic dilation and reducing strain on the heart.

• Beta-blockers (e.g., atenolol, propranolol) are commonly prescribed to lower blood pressure and heart rate, which reduces the force of blood against the aortic wall.
• Angiotensin receptor blockers (ARBs) like losartan have shown promise in limiting aortic growth by affecting the TGF-β (transforming growth factor-beta) pathway, which is often dysregulated in Marfan syndrome.
• Calcium channel blockers may be used as alternatives if beta-blockers are not tolerated.

2. Regular Monitoring

Echocardiograms, MRIs, and CT scans are essential for tracking the size of the aorta and assessing valve function. Most individuals with Marfan syndrome require imaging at least once a year, or more frequently if the aorta is significantly enlarged.

3. Surgical Intervention

Surgery may be required if the aorta reaches a certain size (typically >5.0 cm in adults, but varies depending on risk factors) or if there is rapid growth, severe valve dysfunction, or evidence of aortic dissection.

Common procedures include:

• Aortic root replacement (also known as the Bentall procedure), where the aortic valve and ascending aorta are replaced with a graft.
• Valve-sparing aortic root replacement, which preserves the native aortic valve while replacing the aorta.

4. Lifestyle Modifications

People with Marfan syndrome should take precautions to protect their heart and blood vessels:

• Avoid high-intensity sports and heavy lifting, which can increase blood pressure and risk of aortic rupture.
• Maintain a healthy blood pressure through diet and exercise.
• Avoid smoking, which can exacerbate cardiovascular issues.
• Genetic counselling and family screening are recommended, as Marfan syndrome is hereditary.

5. Multidisciplinary Care

Because Marfan syndrome can affect multiple organs, patients benefit from a team approach, often involving cardiologists, geneticists, ophthalmologists, and orthopaedic specialists. Coordinated care ensures comprehensive monitoring and management.

Final Thoughts

Marfan syndrome may be a lifelong condition, but with early detection, vigilant monitoring, and proper treatment, individuals with the disorder can live long and healthy lives. The key to preserving heart health lies in understanding the cardiovascular impact of Marfan syndrome, recognising symptoms early, and following a tailored treatment plan.

If you or someone you know has Marfan syndrome or a family history of connective tissue disorders, don’t delay a cardiovascular evaluation. Modern medicine has come a long way in managing this complex condition—and knowledge truly is the best defence.

FAQs

How to check your heart health

Regular heart check-ups, including blood pressure monitoring, echocardiograms, and consultations with a cardiologist, help assess heart health.

What is the life expectancy with Marfan syndrome

With early diagnosis and proper treatment, many people with Marfan syndrome live well into their 70s or beyond.

Can you exercise with Marfan syndrome?

Yes, but only low-impact, non-competitive exercises are recommended to avoid stress on the heart and aorta.

How to stay healthy with Marfan syndrome?

Stay healthy by managing blood pressure, attending regular medical checkups, avoiding high-impact activities, and following your doctor’s treatment plan.

Can Marfan gain muscle?

Yes, individuals with Marfan can gain muscle with safe, low-resistance strength training under medical guidance.