How Does Marfan Syndrome Affect The Aorta? 9 Things You Should Know About Marfan Syndrome | Cardiovascular Disorders and Diseases articles | Body & Health Conditions center

Marfan syndrome (MFS) is an inherited condition that affects the connective tissue. Although relatively rare, it is one of the most common disorders of the connective tissue. Marfan syndrome is caused by a genetic mutation that leads to a lack of a specific protein – fibrillin-1, required in the formation of microfibrils, a structural component of the connective tissue, giving it both form and strength.

Other than providing structure, microfibrils also have a role in regulating muscle and bone growth, as well as in organ formation. They can be found in elastic tissues, like in the arteries, skin, and the lungs, but also in non-elastic tissues, such as in the eye, in the form of zonules of Zinn, whose function is to hold the lens in their place.

1. Most people inherit it, but it can occur spontaneously

Marfan syndrome shows an autosomal dominant inheritance pattern, which means that the mutated gene is located on one of the non-sex (numbered) chromosomes – autosomes, and that only one mutated gene from one of the parents is needed to pass the disorder to the child – dominant.

For example, if one parent has Marfan syndrome, there is a 50 percent chance that the child will also have this disease. However, three out of four cases of Marfan syndrome aren’t inherited, but caused by a new mutation instead. Both sexes are affected equally, and there is also no difference regarding race or geographical location.

2. Patients have a characteristic physical appearance

People with Marfan syndrome tend to be tall and thin, usually with disproportionally long arms and legs, including fingers and toes, meaning that the upper part of their body is shorter than their lower part. This happens because the long bones in the body tend to overgrow.

Other characteristics of people suffering from Marfan syndrome may include:

Curved spine (scoliosis).
Overgrown ribs that push the breastbone, resulting in a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum), also known as pigeon chest.
Weak joints, susceptible to dislocation.
Long, narrow face with a small jaw, placed further back than normal.
Flat cheek bones.
High arched roof of the mouth.
Crowded teeth.
Stretch marks, due to decreased elasticity of the skin.
Less fat under the skin.
Permanently bent fingers.
Flat feet.

3. The symptoms may vary depending on the patient

Of course, not all people suffering from Marfan syndrome look the same. Some people experience only mild symptoms, whereas others may develop life-threatening complications, especially if the disease affects the eye, or even worse – the lungs or heart vessels.

Usually, Marfan syndrome is very hard to diagnose at birth, since the disease tends to worsen over time. Therefore, it is estimated that almost half of the people suffering from Marfan syndrome aren’t even aware of that.

4. Cardiovascular issues develop in majority of Marfan syndrome cases

The most dangerous complications of Marfan syndrome relate to the heart and blood vessel tissue. Problems related to these areas are diagnosed in roughly 90 percent of patients. Damaged connective tissue may weaken the aorta – the main artery of the body, which carries oxygen-rich blood directly from the heart.

The pressure of the blood leaving the heart further weakens the aortic wall, which can lead to aortic aneurysm, along with all of its possible complications. In people with Marfan syndrome, the aneurysm is most commonly located in the ascending part of the aorta, or the aortic root.

Other symptoms related to the cardiovascular system may include:

Aortic dissection.
Mitral valve prolapse – incomplete closing of the valves between the left atrium and the left ventricle, causing the blood to leak back to the left atrium. This may not cause any symptoms at the beginning, but if undiagnosed, it may eventually lead to heart muscle enlargement, which can further progress to heart failure.

Other than in the aorta, aneurysms can also be found in the cerebral arteries, supplying the brain. These aneurysms are usually saccular in shape, also called “berry” aneurysms, since they look like a berry on a thin branch.

5. Marfan syndrome patients are usually nearsighted

Eye related problems are also common, since the protein providing the firmness of certain structures in the eye is missing. More than half of patients with Marfan syndrome have issues regarding:

Lens dislocation – where the lens moves from its regular position.
Nearsightedness – characterized by the blurring of faraway objects.
Glaucoma (increased pressure in the eye) – may lead to damage of the optic nerve if untreated.

6. Other organs may also be affected in Marfan syndrome

Given the fact that connective tissue is located throughout the body, almost no organ system is absolutely safe from Marfan syndrome. Structures that are commonly afflicted are:

The lungs – sacs of tissue filled with air, called lung cysts, may form. Collections of air in the space around the lungs may lead to a sudden collapse of the lung, known as a spontaneous pneumothorax.
Dura mater (the outermost layer of the membrane surrounding the brain and the spinal cord) – pain in the lower back, along with leg stiffness, is a common issue in Marfan syndrome, caused by the distention of the dura.

7. Marfan syndrome may even cause pregnancy related complications

During pregnancy, a women’s heart works harder than usual, which increases the load on the already weakened aorta of the patients with Marfan syndrome, resulting in an elevated risk from aortic dissection, or aortic rupture.

Because of this, every pregnancy in women with Marfan syndrome should be regarded as a high-risk pregnancy, demanding regular checkups with their cardiologists. Another problem is that some of the medications used to treat these patients can not be used during pregnancy, because of its side effects, which include birth defects, or even worse – fetal death.

8. Diagnosing Marfan syndrome can be difficult

Because symptoms vary from person to person, don’t manifest at the same time, nor in the same intensity, diagnosing Marfan syndrome is very hard. Not many people show typical symptoms, or have any specific biochemical or histological signs of the disease. On the other hand, other connective tissue disorders share some of the clinical signs and symptoms, making the diagnosis even harder.

The team of doctors in charge of the diagnosis is consisted of cardiologists, ophthalmologists, radiologists, surgeons, geneticists, pediatricians, and many others, if needed, because multiple organ systems are affected in Marfan syndrome .

To confirm Marfan syndrome, a special blood test is used to look for changes in the responsible gene. However, because the gene may mutate, this process may prove to be very expensive and not very straightforward as it sounds.

Therefore, most of the cases are diagnosed with the help of a detailed examination, including medical imaging, such as a CT or MRI scan, chest X-ray, or ultrasound of the heart, in order to evaluate the possible signs and thus confirm the diagnosis. Patient’s history, along with information about family members with similar symptoms can greatly help in diagnosing Marfan syndrome.

9. Marfan syndrome (currently) can’t be cured

Treating Marfan syndrome currently involves the treatment of existing symptoms, as well as preventing possible complications. It’s extremely important for the patient to try to lead a healthy lifestyle, as well as avoid any activities that may worsen the existing condition, just like in any other aorta related disease.

In the past, the lifespan of these patients was under 40 years. Today, thanks to modern-day methods of diagnosis, and therapy, patients with Marfan syndrome can live a normal life. Genetic therapy is underway, with the goal of preventing heritability of this disease. Living with a genetic disease of this kind may be extremely hard for some people, who wonder how will it affect their childhood, puberty, careers, and on the other hand, worry about passing down “faulty” genes to their children.

Beta-blockers are used to prevent any possible heart complications. Hormone therapy, including estrogen and progesterone, may help in very tall female children by prematurely causing puberty, thereby preventing excess growth.

Issues regarding curved spine and breastbone dislocation may be operated on, whereas heart valve related complications are prevented using heart surgery, or in the case of aortic aneurysms – aortic repair surgery.

But remember, having Marfan syndrome doesn’t mean that you can’t dream big and achieve greatness. Just look at some of the people in history said to be diagnosed with the same condition: Abraham Lincoln, Caesar, Paganini, and even Tutankhamun!

Couldn't find what you looking for?

TRY OUR SEARCH!