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Marfan Syndrome Explained

Marfan Syndrome

History and Explanation

Marfan Syndrome is a genetic, “inherited” disorder that affects the body’s connective tissue. Connective tissue is the tough, fibrous tissue that connects one part of the body with another. It is a major component of tendons, ligaments, bones, cartilage, and the walls of large blood vessels. Marfan Syndrome affects one out of every 10,000 newborns. It is one of the most common of the more than one hundred inherited disorders of connective tissue. The disorder affects males and females from all racial and ethnic groups. It is named after Dr. Antoine Marfan, who in France, in 1896, described a five year old patient with unusually long, slender fingers, limbs and other skeletal abnormalities.

The problem in Marfan Syndrome is caused by a mutation (change) in a gene. Genes are segments of DNA that direct the body to produce proteins. In many families with inherited Marfan Syndrome, the mutation affects the FBN1 gene on chromosome 15; although a second gene on chromosome 5 may be involved in some cases. Normally the FBN1 gene enables the body to produce a protein called fibrillin which contributes to connective tissue strength and elasticity. Fibrillin, normally, is especially abundant in the aorta, in the ligaments that hold the eye lens in place, and in bones. Individuals with Marfan Syndrome have scant or faulty fibrillin in these structures which stretch abnormally because of their inability to withstand normal stress. The abnormal gene is usually inherited from one parent who has the disorder. The abnormality is a “dominant” genetic trait, so each child of a parent with the abnormal gene has a 50:50 chance of inheriting it.

For example, my father had Marfan Syndrome which he inherited from his father thus resulting in a normal FBN1 gene and an abnormal FBN1gene in his body. If my father gave me his mother’s normal gene, I would not have had Marfan’s. Since he gave me his father’s abnormal gene, it expresses itself as a dominant gene over my mother’s normal gene. I then, also, have the same opportunity to pass my father’s abnormal gene or my mother’s normal gene, resulting in a 50:50 chance of each of my children inheriting the disorder when combined with my wife’s normal FBN1 gene. As it stands now, one of my three daughters, who is 2 ½ years old, has inherited the disease. One daughter, 5 years old, does not seem to have inherited it and one daughter, 11 months old, we haven’t had tested yet.

On a side note, we have chosen to get life insurance for our children before being tested or officially diagnosed for Marfan Syndrome. My mother did this for me and since being diagnosed, I would not have been able to get life insurance and am not able to increase it. I highly recommend asking your doctor to hold off on an official diagnosis until life insurance is finalized.

In about 25% of diagnosed Marfan cases or 2,500 of Marfan newborns, a genetic accident (new mutation not inherited) occurred in the sperm or egg cell in unaffected parents, thus resulting in a Marfan child. In these cases, reoccurrence risk for related offspring (siblings) is unpredictable, but usually very low.

Features

Because of the inherited problem of producing fibrillin, people with Marfan Syndrome have many different problems related to weakness in connective tissue. These problems include, but are not limited to:

1) Reduced vision – in about 65% of Marfan patients, the lens of the eyes become dislocated because tiny eye ligaments that normally hold the lens in place are weak. This condition is called Ectopia Lentis. Marfan Syndrome also seems to increase the risk of near-sightedness, cataracts at an unusually early age (40-50 years old), glaucoma, detached retina, and crossed eyes. It is generally not recommended for Marfan patients to undergo lasik eye surgery due to tissue frailty and excessive scar tissue.

2) Skeletal abnormalities – patients with Marfan Syndrome are typically very tall, having long limbs and long, slender spider-like fingers. They also may have severe chest deformities, such as a chest that is either caved in or protrudes in front. Some patients may have scoliosis (curvature of the spine) and/or flat feet and some may display a high-arched palate in the roof of their mouth and crowded teeth. Many have very loose joints. The skeletal abnormality is frequently what people notice and question first and may be the first clue to a Marfan’s diagnosis.

3) Cardiovascular changes –

a. Weakened connective tissue affects the heart and large blood vessels of people with Marfan Syndrome. This creates the most serious problem associated with the disorder which is weakness of the aorta (the body’s largest artery). Cardiovascular changes affect most individuals with Marfan Syndrome to some degree. Blood pumped from the heart passes forcefully and directly into the aorta which branches out to carry oxygen-rich blood to the entire body. As the walls of the aorta gradually weaken (aortic dilatation), they can split in places allowing blood to leak into the chest, abdomen, or wall of the aorta itself. Sudden large splits can, and often do, result in sudden death. Recent studies have shown that cell death (necrosis) occurs at a much higher rate in Marfan patients which contributes to aortic dilatation or the weakening of the aortic walls.

b. Connective tissue weakness in the heart can also cause mitral valve prolapse (a “floppy” mitral valve or heart valve that doesn’t close properly) resulting in mitral valve regurgitation (a problem in the closing of the mitral valve that results in significant back flow of blood into the left atrium). Heart valves are pairs or trios of flaps that keep the blood flowing in one direction through the heart. Their motion during heart beats may allow brief reverse blood flow (leakage) and can cause a heart murmur.

You may have Marfan Syndrome if you exhibit at least two of these three major criteria: Ocular, Skeletal, or Cardiac. You could also have genetic testing done to determine if the FBN1 gene is abnormal.

Severity

The severity of Marfan Syndrome features varies, meaning that some people with the Syndrome have more serious effects than others. This variability can occur even within one family.

For example, my grandfather lived a very normal life without Marfan complications until an automobile accident ruptured his dilated aorta resulting in immediate death.

My father, on the other hand, was 6’5”, 135 pounds, and very unusual looking, meaning unproportionately long face, very narrow jaw, spidery arms and legs, etc. (this look is called “Marfanoid”). He had severe valve leakage as early as age nine and died a very sick man, at the early age of 40, on the operating table during open heart surgery to replace the aortic valve, mitral valve, and aortic root/ascending aorta.

I don’t look unproportionately unusual, although I am slender with long fingers and toes. I do have the cardiac abnormalities resulting in open heart surgery at the age of 26 to repair my aortic valve, mitral valve, and replace my aortic root/ascending aorta with a Dacron graft.

My older sister, who also has Marfan’s, doesn’t look proportionately unusual and, although being monitored by echocardiograms, does not present herself with the classic cardiovascular abnormalities; meaning all her cardiovascular measurements are currently within normal limits.

Diagnosis

Marfan Syndrome is sometimes difficult to diagnose because the features and severity of the disorder can differ greatly among affected individuals or family members. Also, certain other disorders, such as Ehlers-Danlos Syndrome, have features that overlap with those of Marfan Syndrome. In some cases, genetic testing of a blood sample may be recommended to help confirm the diagnosis. Genetic testing is more likely to aid in diagnosis in families with multiple affected members. Genetic testing is frequently unavailable at the average hospital and requires special expertise found at large children’s hospitals or university hospitals.

Your doctor should ask about any family history of Marfan Syndrome, as well as about any family members who are unusually tall and slender and ask if they have vision problems. Your doctor should also ask about any family history of sudden cardiac death resulting from aortic dissection (rupture), especially if this death was attributed to “heart problems”.

Your doctor may suspect Marfan Syndrome based on this family history, your personal history of Ectopia Lentis (dislocated eye lenses), and your physical appearance. The diagnosis can be confirmed if you have an aortic aneurysm (dilated aorta) visible on echocardiography, a painless test that uses sound waves to outline the structure of the heart and its major vessels. The diagnosis will be even more certain if you have other skeletal abnormalities (chest wall deformities or scoliosis) or heart murmurs due to aortic or mitral valve abnormalities.

Marfan’s in Women

Women with Marfan Syndrome who become pregnant are considered to be high-risk, whether or not they have symptoms of an enlarged aorta. They face an increased possibility of aortic splitting during pregnancy. The pregnancy causes greatly increased blood volume and pressure required to maintain normal fetal/mother circulation.

Treatment

Currently Marfan Syndrome cannot be cured or reversed but advances in treatment have greatly improved the outlook for children and adults with Marfan Syndrome. Today, the life expectancy of individuals with the disorder, who receive early, proper medical treatment, is about 70 years. It’s important to note that although knowledge about Marfan Syndrome has increased in recent years, expertise in treating the cardiac symptoms is rare. Research can be done to narrow your search for a Marfan’s expert through the National Marfan Foundation, an organization providing support to Marfan patients and their families throughout communities all over the country. Most of the problems associated with Marfan Syndrome can be managed effectively through medication as a preventative tool of the disease’s progression as long as it is diagnosed early.

The disorder is usually treated by a team of specialists overseen by a single doctor who knows all the aspects of Marfan Syndrome. The team would consist of an ophthalmologist (eye doctor), orthopedist (foot doctor), cardiologist (heart doctor), orthodontist (teeth doctor) and a spine specialist.

There is no medical treatment currently to reverse the fibrillin abnormality in people with Marfan Syndrome. Current research on a strain of mice that are born with similar fibrillin problems may lead to a successful treatment for Marfan’s in the future. One of the drugs being used is Losartan. They are beginning the first phases of human testing to experiment with medications that have actually reduced the aortic size in Marfan mice.

Preventative Therapy

Until we can shrink the aorta, doctors try to prevent or delay the aortic changes seen in Marfan patients by prescribing beta-blockers and/or Ace-Inhibitors.

a. Beta Blockers – These medications, such as Propranolol (Inderal), Metoprolol (Lopressor), and Atenolol (Tenormin) decrease the strain on the aorta’s walls by slowing the heart rate and reducing the force of heart contractions, especially during exercise. They also reduce blood pressure.

b. Ace-Inhibitors – These medications, such as Lisinopril (Prinivil), and Captopril, help to drop blood pressure by relaxing arterial tension. In addition, they have been shown to decrease accelerated cell death (necrosis) in the aorta which is common to Marfan’s. My 2 year old daughter is currently taking Enalapril, also an Ace Inhibitor, in a liquid form and loves it. This will slow the progression of cell death in her aorta as well as stop the increasing progression of the aortic dilation. As a result, they are hopeful she will never have open heart surgery and hopeful she will be able to bear children which is an amazing, and new, development for a female Marfan’s. My sister, 5 years ago, was told she could never bear children.

c. Calcium Channel Blockers – although not used as often anymore, they help to reduce force of contraction (how hard your heart squeezes) and blood pressure.

Nutrition Therapy

Nutrition is so important in the development of healthy connective tissue, particularly in growing children. We build a trillion cells a day by what we eat. It takes 19 vitamins and minerals and 9 amino acids with a perfect protein to build a perfect cell. Even if we miss only one nutrient, then we are building imperfect cells for seven days. These defective cells will promote the development of degenerative diseases among other things. We are the only ones who can do something about our nutrition.

With proper consumption, assimilation, and elimination our body has the ability to:

o Change the chemistry of the blood in seven days

o Change the composition of cells in seven weeks

o Change some major organs in seven months

And, as science knows, we have a completely new body in seven years. Physiological chemists state that there is not a blood cell in our body more than fourteen days old and that we rebuild a new heart every 30 days.

Can nutrition, alone, cure Marfan’s? Obviously not; however, my children and I need the proper building blocks available for the production of the best connective tissue we are capable of making. The cause of different severities among Marfan patients is unknown; however, I believe that a major component in lessening the severity in my family has been proper nutrition.

We lead a very busy life and it is natural that our nutrition generally suffers as a result. 99% of American adults fail to meet the USDA “Food Pyramid” dietary guidelines (Council for Responsible Nutrition, 1998). Therefore, we need supplementation, especially for our children. This is where Shaklee, a nutraceutical company, can benefit us greatly.

Shaklee was founded by a Chiropractic doctor in 1956. It is considered the number one leader in the nutritional industry. Shaklee nutritional products are recognized by the government as food rather than drugs. Shaklee has spent over $100 million on research which is more than the next six largest companies combined. They have over 150 scientists on staff whereas many nutritional companies don’t even have a research staff. Shaklee has never had to recall a single product in its 50 year history because each product goes through as many as 176 separate tests for purity, potency, and safety. All this to say that not all vitamins are created equal. Shaklee is superior in many areas. Ask your company for their clinical research.

For recommendations on where to begin with supplementation, refer back to my website by clicking here and going to the bottom of the website page.

Intervention Therapy

If you have Marfan Syndrome, your cardiologist should monitor your heart health carefully with echocardiograms (heart ultrasounds) at least annually to check for developing problems in the aorta and mitral valve. Surgery is usually recommended if the patient’s aortic root has stretched to more than 6 cm. in diameter or the thoracic aorta has widened to greater than 5 cm. in diameter. In a typical operation, the faulty aortic valve, along with a section of the aorta where it emerges from the heart, is replaced with an artificial valve attached to a synthetic tube. The mitral valve, if affected, can also be repaired or replaced at this time.

There are many different types of valves that can be used as replacements. These include:

1) Tissue valves – these include pig valves (porcine), cow valves (bovine), and human valves (homograft). The advantage of the tissue valve is that you don’t have to be on Coumadin the rest of your life. The disadvantage is that they typically last between 10-15 years.

2) Mechanical (metal) valves – these include St. Jude’s (bi-leaflet tilting discs), Bjork-Shiley (single tilting disc), and Star Edwards (ball cage valve). Of these three, St. Jude’s is the best option and is most commonly used. The advantage of mechanical valves is that they can last up to 20-30 years. The disadvantage is that you will be on Coumadin the rest of your life.

After any valve replacement surgery, the patient is given anti-clotting medication, such as Coumadin, at least temporarily. If your valve is a mechanical valve, you will be on Coumadin for life because blood tends to clot when it comes into contact with the metal.

A recent study showed that early, preventative surgery for aortic dilation is far safer than waiting until an emergency surgery is needed. With preventative surgery, the death rate was 1.5% versus 12% for patients who had surgery on an emergency basis. This is played out to be true in my family – my Dad waited to have surgery until it was an emergency and died during the operation; whereas, I had surgery early enough that I was healthy and strong and recovered very quickly.

If you have Marfan related scoliosis of 20-40 degrees, you can be treated with a brace and physical therapy. For scoliosis greater than 45 degrees, you will need surgery.

Crowded teeth can be adjusted by an orthodontist (remember to take antibiotics if you have a valve problem).

You should have an annual eye exam to look for Marfan related eye problems. If you have dislocated lenses, you may be able to be treated with special lenses called Aphakic Lenses and special eye drops to widen the pupil rather than surgery. If eye surgery is necessary, it should be done in an ophthalmology center that specializes in the treatment of Marfan Syndrome.

Precautions

The greatest danger is death from a sudden split in the aorta. Dilation may happen from the normal pumping of the blood through a weakened aorta, from extreme physical exercise (as in my case) or extreme emotional distress, both of which sends the blood rushing at higher pressures.

Children and adults with Marfan Syndrome are warned to avoid heavy exercise, contact sports, and lifting heavy objects. However, with their doctor’s guidance, most are able to participate in less vigorous activity such as walking, bike riding, and swimming. All of these activities should be non-competitive. If you have a coach pushing your performance to its maximum, it’s considered competitive.

Because of heart valve abnormalities, most people with Marfan syndrome are prone to infections in those valves. They must be treated with oral antibiotics to prevent infection of valves by bacteria in the blood stream before routine dental work, including a cleaning, as well as before any kind of surgery. Those who have had valve replacement surgery sometimes require higher doses of antibiotics which are usually given by injection.

Call your doctor if you have chest pain, shortness of breath especially during exercise, or an irregular pulse. If you know you have Marfan Syndrome, call your doctor immediately if you experience severe pain in the front or back of the chest, sudden weakness or tingling in the arms or legs, or an unexplained fever. These may be symptoms of aortic dissection (tear), a medical emergency that can lead to aortic rupture, which is fatal in 90-95% of cases.

Conclusion

In conclusion, Marfan Syndrome is a rare disease and requires close monitoring. Marfan Syndrome cannot be “caught” from another person – it is generally inherited, with the exception of very rare mutations. Support groups for Marfan families are available across the country and I strongly recommend finding an active, local group to answer questions. You can locate a group by going to the National Marfan Foundation website.

Genetic counseling should be considered for Marfan’s who are considering having children.

As Marfan’s age, it is possible for the lining around the spinal cord to stretch towards the base, the lumbar region. In Marfan’s patients this is called Dural Ectasia and is seen best by MRI. Radiologists, however, may call this abnormality a Neurofibroma (benign tumor) if they aren’t familiar with Marfan Syndrome. Dural Ectasia can cause lower back pain.

Connective tissue disorders are rare but many. You may have been diagnosed with Marfan Syndrome when in reality you have a different yet very closely related syndrome. In the same way, people may be diagnosed with a connective tissue syndrome that can more accurately be diagnosed as Marfan Syndrome.

I am an Echocardiographer by trade and welcome any questions about the heart and/or measurements, etc. Even if you just need someone to talk to, we would love to hear from you. If you have any further questions or we can be of help, please contact us at the information below.

Sources

** Information acquired from “IntelliHealth”, “March of Dimes” and “National Marfan Foundation” websites as well as years of personal experience in the field of echocardiography.

** Feel free to pass this information along to anyone who may benefit from it as long as you include the information, including website, at the bottom.

James & Titia Jonas – A Healthy Advantage

303-482-0002

1-800-228-6237

Longmont, CO

www.ahealthyadvantage.net

articles@ahealthyadvantage.net

About the Author

My name is James Jonas and I am a third generation Marfan. I also have a Marfan sister and 2 year old daughter with Marfan's. My dad died at the age of 40 from Marfan’s Syndrome when I was 10 months old. I became a certified Echocardiographer in 1999.

I AM 38 WEEKS PREGNANT AND CONTRACTING LIKE CRAZY, BUT MY CERVIX WILL NOT DILATE.?

I AM CONTRACTING EVERY THREE TO FOUR MINUTES AND IT IS EXCRUCIATING. MY CERVIX WILL NOT DILATE AND MY DOCTOR SAYS HE CAN NOT USE A CERVICAL DILATOR UNTIL 39 WEEKS. I KNOW A WEEK SOUNDS RIGHT AROUND THE CORNER BUT I AM SO UNCOMFORTABLE I CANT EVEN DO HOUSEWORK OR CARE FOR MY CHILDREN. WE TRIED CASTOR OIL AND I JUST GOT HORRIBLE IBS. WE HAVE BEEN HAVING SEX, AND TO NO AVAIL. ANY OTHER IDEAS? PLEASE HELP I AM IN PAIN AND GOING CRAZY!
AND AS FAR AS THE RIDICULOUS RESPONSE OF YOU WILL NEVER DILATE THIS IS YOUR PUNISHMENT.... ARE YOU KIDDING ME? HOW OLD ARE YOU? IGNORANCE IS LIKE A VIRUS, THAT YOU MADAME, HAVE CERTAINLY BECOME INFECTED WITH

I agree with the poster that said to do squats and exercise ball. Really you tried sex which usually made me have horrible contractions that did nothing. The best thing they can do for you is slow down the contractions and give you a prostogaldin pill called Mizo pill. However, they will usually only do that if you are over due and this is prior to an inducement. I had to do it both times as I would have horrible contractions and didn't dilate.

I'm so sorry. I feel your pain, I remember being there not too long ago. Climbing stairs and the exercise ball (which opens up your hips and helps prepare for birth) really helped me. All in all you really can't do much to make yourself dilate. Yeah castor oil and eating a bunch of pineapple only gives you the runs. The best thing is sex as the semen can help to soften your cervix but it can end up giving you monster contractions. Drink water as sometimes dehydration can cause the braxton hicks. I remember going to the hospital so many times with contractions 2-5 min apart only to be turned away!

Thankfully you are almost there! Best of luck and blessings