Marfan Syndrome and Your Heart: Let's Talk About This!

You've probably seen people who are much taller, have longer limbs, and are thinner than others. Everyone has this condition, but it's not a disease. But sometimes, this type of body shape can be a symptom of a genetic condition called Marfan Syndrome . This is a condition that occurs when the connective tissue in our body doesn't develop properly. Simply put, this connective tissue is what holds the different parts of our body together and gives them strength. When these are weakened, many parts of the body can be affected, especially the heart, eyes, blood vessels, and skeletal system . Today, we'll talk about how this condition called Marfan Syndrome affects the heart.

How does Marfan Syndrome affect the heart?

When you have Marfan syndrome, two main parts of the heart are most affected.

1. Aorta: This is the main, largest blood vessel that carries oxygen-rich blood from our heart to the entire body. It's like the main pipe that carries water from a water tank to your house.

2. Heart valves: These are the parts that act like doors between the chambers inside the heart and in the main veins that carry blood out of the heart. They ensure that blood flows in only one direction.

Let's now look at each of these separately to see what happens.

What happens to the aorta?

Marfan syndrome causes the connective tissue in the walls of the heart to weaken. Like an old rubber tube, it loses its strength and elasticity. This can lead to two main problems:

• Aortic dilation: The aorta gradually begins to widen and enlarge.
• Aortic aneurysm: In some places, the wall of the heart becomes weak and can bulge outward like a balloon.

Imagine, this aneurysm is like a bicycle tire that bulges out from one spot when the tube becomes weak.

In particular, the part of the heart closest to the heart, called the `aortic root`, is the part that most often becomes enlarged or widened in this way in people with Marfan syndrome. This is a rather dangerous condition, because if this `aneurysm` grows large and bursts (`aortic dissection` or rupture), it can be life-threatening.

Other conditions such as Ehlers-Danlos syndrome, Loeys-Dietz syndrome, bicuspid aortic valve, and Turner syndrome can also cause dilation of the heart, but they may occur in other parts of the heart.

What happens to the heart valves?

Marfan syndrome can also cause problems with the heart valves. If these valves don't work properly, the heart has to work harder to pump blood. Over time, this can lead to heart failure.It can go either way. Two main valve diseases are seen in association with Marfan syndrome:

• Aortic valve regurgitation: When the valve between the aorta and the lower left chamber of the heart (the left ventricle) does not close properly, some of the pumped blood leaks back into the heart. It's like a leaky faucet.
• Mitral valve prolapse: The mitral valve, located between the upper chamber (left atrium) and the lower chamber (left ventricle) on the left side of the heart, does not close properly, and the upper chamber protrudes outward. This can sometimes cause blood to leak backward (mitral regurgitation).

How common is heart disease in people with Marfan syndrome?

In fact, people with Marfan syndrome are at a much higher risk of developing heart problems. Research has shown that nine out of ten people with Marfan syndrome will have some type of problem with their heart valve or aorta. That's why it's important to be aware of this.

What are the symptoms of Marfan syndrome affecting the heart?

If you have Marfan syndrome, such as an aortic aneurysm or valve disease, you may experience some symptoms. However, some people may have these conditions without any symptoms. That's why medical tests are important.

These are the symptoms that can be seen in general:

• Chest pain or upper back pain
• Coughing up blood (this is a slightly more dangerous sign)
• Difficulty swallowing food (if the enlarged heart is pressing on the esophagus )
• Feeling dizzy or lightheaded
• Feeling extremely tired or weak
• Feeling of abnormal heart rate (heart palpitations)
• Hoarseness of the voice (if the heart presses on a nerve connected to the vocal cords)
• Difficulty breathing , especially when you are tired or lie down
• Swelling , especially in the legs and ankles
• Wheezing (whistling) when breathing

Imagine you have a friend who is very tall and thin. He often complains of chest pain and has difficulty walking . If so, it would be a good idea to see a doctor to see if it is related to Marfan syndrome.

What causes Marfan syndrome to affect the heart?

As we said before, Marfan syndrome is a connective tissue disorder.It's not formed properly. Healthy connective tissue is found everywhere in our bodies. It gives strength, shape, and flexibility to organs and blood vessels. This connective tissue is found in the walls of the heart and blood vessels, especially the aorta, and in the heart valves.

When these connective tissues weaken due to Marfan syndrome, they lose their strength and elasticity. This causes the heart to become dilated and swollen, unable to withstand the pressure of the blood. This also causes the heart valves to become diseased and unable to open or close properly.

What heart tests help diagnose Marfan syndrome?

Marfan syndrome can sometimes be difficult to diagnose, as the symptoms vary from person to person and can mimic those of other conditions. Most people only discover they have it when they are young or older.

If a doctor suspects you have Marfan syndrome, they will do things like:

• A complete physical exam will be performed. Your height, weight, arm and leg length, chest shape, eyes, and skin tone will be checked.
• They will ask about your family medical history . They will check to see if anyone in your family has had Marfan syndrome or similar symptoms.
• Several special scans (`imaging tests`) that examine the heart are ordered. The main ones are:
• Echocardiogram (Echo): This allows you to clearly see the size, shape, and function of the heart and blood vessels, much like an ultrasound scan of the heart.
• Electrocardiogram (EKG): This measures the electrical activity of the heart, that is, the rhythm of the heartbeat.
• Genetic testing: This test can be done to confirm whether you have a genetic mutation (in the FBN1 gene) that causes Marfan syndrome.

What are the treatments for managing heart problems caused by Marfan syndrome?

Although Marfan syndrome cannot be completely cured, there are treatments to control the effects on the heart and prevent serious complications. These come in two types: non-surgical treatments and surgical treatments.

A doctor may recommend surgery in the following cases:

• If the diameter of your heart vessel (aorta) is 5 centimeters (about 1.97 inches) or larger.
• If the heart rate increases by 0.5 centimeters (about 0.197 inches) or more within a year (this is called `rapid expansion`).
• If your blood relatives (biological family members) have undergone this type of surgery (perhaps due to genetic influences, surgery may have to be performed even at a smaller diameter).

People with smaller bodies generally have smaller blood vessels, so they may need surgery even if the diameter is smaller.

Non-surgical treatments

These are the first steps in managing Marfan syndrome.

• Lifestyle modifications: You should definitely avoid activities that put extra strain on the heart.
• It's not good to do things like lifting weights or pushing.
• High-impact sports such as football, rugby, and boxing are not suitable.
• Talk to your doctor to find out what exercises are safe and suitable for you.
• Medications:
• Doctors prescribe medications called `Angiotensin II receptor blockers (ARBs)` or `beta-blockers` . These help slow the rate at which the heart vessels dilate and control blood pressure.
• Regular cardiac imaging exams:
• The size of the heart and the condition of the valves should be checked regularly by a doctor. This can be done using scans such as `transthoracic echocardiography (Echo)`, `computerized tomographic angiography (CTA)`, or `magnetic resonance angiography (MRA)`.
• These tests can detect changes in the heart before it ruptures (dissection).

Surgical treatments

Sometimes, cardiovascular problems cannot be controlled with medication and lifestyle changes alone. That's when surgery is necessary.

The main goal of heart surgery for Marfan syndrome is to repair a weakened part of the heart valve, remove it and implant an artificial valve, or repair a damaged heart valve or replace it with a new one.

The main goal of these surgeries is to prevent life-threatening emergencies such as aortic dissection.

Most of the time, these surgeries are planned and performed at a pre-determined date (elective surgery). However, if a sudden rupture or rupture of a coronary artery occurs, it has to be performed as an emergency procedure.

There are several main types of heart surgery performed for Marfan syndrome:

• Aortic root replacement: This is the most common surgery because this part of the heart often swells or widens.
• Aortic valve repair or replacement.
• Repair of a bulge in the artery near the heart (`Ascending aortic aneurysm repair`).
• Mitral valve repair or replacement.

The cardiac surgeon will discuss with you and decide which surgery is best for you.

Can heart disease be prevented if you have Marfan syndrome?

Unfortunately, Marfan syndrome cannot be prevented, as it is genetic. Similarly, the heart disease it causes cannot be completely prevented.

However, there are things you can do to reduce your risk of serious complications, such as aortic dissection:

• Avoiding activities that put stress on the heart (as we discussed earlier, avoiding heavy lifting and high-stress sports).
• Getting cardiac imaging exams done on time as prescribed by the doctor.
• Taking all prescribed medications correctly and on time.

One thing to remember in particular is that if you are a woman with Marfan syndrome and are thinking about getting pregnant, you should definitely talk to your doctor about it. Studies have shown that up to 40% of women with Marfan syndrome may experience complications during pregnancy. Therefore, it is very important to seek medical advice before getting pregnant.

What is the future outlook for someone with heart disease due to Marfan syndrome?

With good management, that is, following medical advice and receiving the necessary treatment, a person with Marfan syndrome can live a normal life span, perhaps even 70 or 80 years.

However, heart problems are the leading cause of death among people with Marfan syndrome, so it is important to stay in regular contact with your cardiologist to monitor your condition.

When should I see a doctor? What are emergencies?

If you experience any of these symptoms, it could be a sign of a ruptured aortic aneurysm. You should seek emergency medical treatment immediately:

• Sudden loss of consciousness.
• Nausea and vomiting.
• Numbness anywhere in the body.
• Paralysis (inability to move some parts of the body).
• Severe difficulty breathing.
• Sudden, unbearable pain - in the chest, upper back, or abdomen.
• Excessive sweating.
• Skin becoming unusually pale or cold.
• Very weak pulse.

If you see a sign like this, don't delay even a minute.

Finally, what to remember (Take-Home Message)

Marfan syndrome is a congenital condition that affects the body's connective tissues. It can particularly affect the heart. But don't worry. If this condition is diagnosed early and managed properly, you can live a largely normal life.

The most important thing is:

• See your doctor regularly.Then he can monitor your condition and provide the necessary tests and treatment in a timely manner.
• Make the necessary lifestyle changes. Stay away from things that weigh on your heart.
• Take the medicine exactly as prescribed.
• If a doctor recommends surgery, talk it over carefully and choose what is best for you.

The more you know about your condition, the easier it will be for you to manage it. Therefore, we hope that this information will be useful to you. If you have any questions, do not hesitate to ask your doctor.

` Marfan Syndrome, heart disease, cardiovascular system, heart valves, connective tissue, genetic diseases, heart surgery