A genetic disorder that affects the connective tissue of the body is known as Marfan Syndrome. This tissue unites all the organs, cells and tissues of the body and is also instrumental in aiding body growth and development.
Connective tissues are found all over the body, so Marfan syndrome can affect different body parts. This disorder is usually seen in the heart, bones, blood vessels, eyes and joints.
Who is affected by Marfan syndrome?
According to studies, this condition affects men and women of all ethnicities. In fact, the ratio of people who suffer from it is 1: 5,000 (46). Three out of four people get it genetically, but when people are the first to get it in their families, it is due to a spontaneous mutation. The chance that an individual with this condition can pass it on to the next generation is 50:50.
Causes of Marfan Syndrome
This condition is caused by a gene that is instrumental in controlling the way the body manufactures fibrillin, the component that endows connective tissue with flexibility and strength. It is usually present at birth, but is not diagnosed until one’s teen years.
How to recognize people with Marfan Syndrome?
People diagnosed with this syndrome are:
- Tall frames and are thin
- Tall and leggy with flexible joints
- Diagnosed with scoliosis or a curved spine
- Prominent with chests that either cave in or protrude
- Known to have crowded teeth and flat feet
Diagnosis of Marfan Syndrome
If your doctor suspects you have Marfan syndrome, your doctor will ask for a complete physical exam of the heart, blood vessels and heart, apart from the skeletal and muscle systems. You might also have to undergo an ECG and an echocardiogram and a chest X-ray.
If parts of your aorta are not clearly visible to the doctor in an echocardiogram, a CT scan or an MRI will be needed. You might also need to go in for a slit lamp eye examination to check for dislocated lenses.
Treatment of Marfan Syndrome
Marfan Syndrome is treated by medication. It requires a specific treatment plan customized to each patient depending on his needs. It calls for regular follow-up appointments with your doctor and eye, bone and cardiovascular examinations. Surgery may also be needed. Medication may include beta-blockers, particularly if the patient is young.
Complications if left untreated
It would help a lot if this condition is detected early or you could have serious complications. One of the most serious among them concerns the heart. If left untreated, the aorta dilates, causing a condition known as aortic dilation. Ultimately, this blood vessel could tear, causing the blood to pour out. This is usually fatal.
The heart valves too are badly affected in this condition. They usually close tightly, but here they become lax, facilitating blood flow through the heart that leaks backward through the heart. Such leaky heart valves make the heart pump harder and get enlarged.
This syndrome also affects one’s bones, and eyes. So, patients with Marfan syndrome have a dislocated lens or spine curvature (scoliosis). However, on the flip side, these conditions can be prevented once Marfan syndrome is diagnosed.
Coping strategies
- Though you can participate in certain types of games and sports, if you have a dilated aorta, you should avoid high intensity sports, isometric exercises like power lifting, etc.
- Since this syndrome is genetically inherited, you should ask for genetic counselling before you are pregnant, as being pregnant with this syndrome puts you at high risk. If your aorta is slightly enlarged, you are at high risk and pregnancy can only contribute to even greater dilation of the aorta.
- You should go in for regular follow-ups, have your blood pressure checked periodically and have an echocardiogram taken once a month during pregnancy.
- If you have undergone heart surgery or have heart or valve involvement, you could be at high risk for bacterial endocarditis, an infection of the heart valves. Doctors will counter this by giving you antibiotics before surgical or dental procedures.
- Just to know that you suffer from this condition could make you sad, angry or scared. But by making some lifestyle changes, you can cope with this condition.