Marfan syndrome is a disease caused by faulty genetics. It is caused by a dominant autosomal gene, and it affects connective tissue. In the past, Marfan syndrome life expectancy was very low, often one or two thirds that of the normal, as the disease’s effects could not be treated effectively. As of press time, there is no cure for Marfan syndrome. However, its effects can be managed, and the current method of care is to prevent any complications while addressing the complications as they manifest. What follows is a list of the more common worrisome symptoms and complications of Marfan syndrome, and how they are addressed by modern medicine.
- Aortic dilatation. One of the more common symptoms of Marfan syndrome that leads to death, aortic dilatation is exactly as it sounds. The aorta dilates due to the weakened structural integrity of its tissue and the high pressures that the heart exerts to pump blood into the body. Remember, the aorta is where most of the oxygenated blood goes out from the heart. A weakness in the aorta’s structural integrity because of its components being weak may eventually lead to rupture. When the aorta gets perforated, the patient will die from massive hemorrhage. One of the possible non-surgical ways to fix this is to prevent the pathway is the administration of losartan, but currently this is still under research. Losartan works as an angiotensin II receptor antagonist, and its effect on the TGF-B concerning Marfan syndrome. Other possible medications currently being researched are other angiotensin II receptor antagonists and atenolol. If this is not possible, surgical intervention may be required, replacing the parts of the aorta most likely to be damaged with a healthy donation.
- Valve prolapse. The same pathway that affects aortic dilatation also affects the heart valves’ integrity. Normally, the heart’s valves prevent the backflow of blood, since after the heart pumps the blood from one valve to the other, negative pressure is created when the heart’s chambers expand again to get more blood from the vessel or chamber before it. If the valve’s structural integrity is compromised, they cannot prevent the backflow of blood, causing there to be no net flow of blood throughout the body. The treatment for valve prolapsed is again preventive or surgical, as above.
- Pregnancy complications. The aorta is located at the back, lying in front of the spine. When a woman is pregnant, the expanding uterus compresses and displaces everything else in the patient’s abdomen. The aorta, then being compressed, is now at greater risk of injury and tearing, which can be fatal even if prompt treatment is given. There is no real way to counter this, but a thorough assessment to see if it is safe for the woman to have a baby should be taken. Echocardiography is used every few weeks to determine the diameter of the aorta and see if the mother is still safe.
- Possibility of having a child with Marfan syndrome. Since Marfan syndrome is transmitted in an autosomal dominant manner (on chromosome 15), if a patient has Marfan syndrome, they have a 50% chance of passing it down to their offspring regardless of sex. If both parents have Marfan syndrome, the chance rises to 75%. Chemke and other researchers (1984) suggested that patients with two copies of the defective allele responsible for Marfan syndrome will have an even more severe and fatal presentation of Marfan syndrome at birth.
Losartan, atenolol, and other drugs were not available for use to treat Marfan syndrome in the past. Other medical procedures back then were also too risky to undertake. But now, as technology advances the art of medicine, diseases can be battled better. The fact that Marfan syndrome life expectancy can now reach even a normal person’s is proof of that.