BRIEF OPENING TOPICS:
Cathy Peters of NIH is conducting a survey re: Marfan’s Syndrome. Any interested parties should contact her to complete the survey.
NMF Emergency Room Education Program - The idea is to choose a hospital in your area and educate the Emergency Room staff about Marfan’s Syndrome.
Northern Illinois Chapter of the NMF is planning a Walk-a-Thon (possibly sometime in June). The Maryland Chapter may want to pursue an event such as this.
Many kudos to Ines Mason for designing the Marfan Foundation Maryland Chapter Web Page.
Julie Kurnitz has written a musical about Marfan’s called “Critical
Trials”.
VIEWED “DATELINE” SEGMENT ABOUT MARFAN’S WHICH AIRED OCTOBER 4, 1998 ON NBC.
The main reaction to the story was that it seemed sensationalized.
CONTINUATION OF PRESENTATION BY HAL DIETZ, M.D.
Dr. Dietz spoke at the first NMF Maryland Chapter meeting one year ago. This presentation is a continuation of the one which he gave at that first meeting.
BACKGROUND: He is a geneticist and cardiologist at Johns
Hopkins University Hospital in Baltimore, MD. He received his undergraduate
education at Duke University and Syracuse; his residency took place at
Johns Hopkins. He currently sees approximately 1000 patients with
Marfan’s Syndrome; one third of those patients have already had surgery
on their aorta.
KEY POINTS OF PRESENTATION:
Educating Physicians about Marfan’s Syndrome is of the utmost importance.
DEGREES OF VARIATION OF MARFAN'S SYNDROME
Genetic make-up determines when and how someone with Marfan’s will show his/her symptoms. Still, early diagnosis of Marfan’s is the key.
There is a misconception that all people with Marfan’s are tall. Tallness in the Marfan population tends to run in families; people with Marfan’s are generally taller than they would’ve been if they didn’t have Marfan’s.
The real issue with Marfan’s is the disproportionality of the limbs (arms and legs) to the trunk of the body. Many other disorders cause a disproportionality of this type. When diagnosing Marfan’s Syndrome, the eyes, aorta and skin are looked at very closely, in conjunction with the disproportionality factor.
As an aside, the life expectancy of a person with Marfan’s is the same as a person in the general population.
PHYSICAL RESTRICTIONS
People with Marfan’s Syndrom should refrain from the following:
a. Playing competitive sports, where the idea is to push oneself to
the limit
b. Playing contact sports, where a blow to the head or chest might
occur
c. Participating in strenuous isometric exercises, such as weight lifting
NOTE: A DEFINITE DIAGNOSIS OF MARFAN’S SYNDROME AND NO PHYSICAL RESTRICTIONS NEVER GO TOGETHER!
THE AORTA
Mitral Valve Prolapse (MVP)
MVP occurs in eight percent (8%) of the general population. The mitral valve has two leaflets that open and close allowing blood to pass through the valve. In Marfan’s the leaflets are weak and flimsy. A “murmur” is heard when there is turbulent blood flow or valve leakage and a “click” is heard when there is prolapse.
The larger the aorta gets, the more likely it will show a change.
Dr. Dietz, however, has never seen someone’s aortic diameter increase from
3-3.5 cm to 5 cm. Untreated, MVP can lead to congestive heart failure.
MVP can also get worse in old age because a person with Marfan’s tends
to deposit calcium on the mitral valve at an earlier age than a person
without Marfan’s.
Beta-Blockers
When a person with Marfan’s has an enlarged aorta, the goal is to lessen the stress placed on the aorta through the use of Beta-blockers (such as tenormin and atenolol). Beta-blockers do the following:
a. Lower the number of beats of the heart per minute
b. Decrease the force of the ejection of blood
Beta-blockers, however, cannot completely halt the expansion of the aorta and do not reverse the damage that has already occurred to the aorta.
Approximately ninety percent (90%) of people on beta-blockers feel sluggish for the first few weeks after beginning their prescription and some experience sexual dysfunction. Many beta-blockers can be prescribed in “one a day” doses to assist in alleviating the side effect of sluggishness.
NOTE: People suffering from asthma should not be prescribed beta-blockers.
AORITIC DISSECTION
An aortic dissection is an inner tear of the aorta; blood entering the wall of the aorta is very painful. A chronic dissection is one in which a tear is formed, blood enters the wall of the aorta, but then the tear stops. Generally, dissection is a treatable condition.
The risk of aortic dissection becomes significant once the aorta reaches a diameter of 5.5 cm. The risk for tears in other areas of the aorta is also higher once the aorta has torn. It is rare that someone with Marfan’s experiences a dissection in other arteries and it is considered very rare for anuerysms to occur in head arteries, coronary arteries, etc.
AORTIC SURGERY
Surgery used to occur when the diameter of a person’s aorta reached 6.0 to 6.5 cm and was considered dangerous, even life-threatening. Over the past 20 years, techniques have changed greatly; surgery can now be done when the aortic diameter is as low as 5.0 cm. The benefit of surgery now outweighs the risk.
a. Composite Graph Repair - Dacron Valve and Aorta
This is the most common technique used when replacing the valve and the dilated portion of the aorta. The replacement valve and the replacement aorta segment are made of Dacron. The use of blood thinners is necessary post-surgery with this type of replacement.
a. Cadaver/Graft Surgery
The use of cadaver tissue to repair/replace the aorta prevents the need for blood thinners post surgery, which is why children are often likely candidates for this type of surgery. Grafts usually wear out in about 10 years, thus causing a need to repeat the surgery.
Five percent of those who have had surgery experience an abdominal aortic dissection. The theory is to replace the upper portion of the aorta to lessen the possibility of a problem occurring further down the aorta.
QUALITY OF LIFE AFTER SURGERY
Most people say they feel the same as they did prior to surgery; some
fell better than they ever have (these persons may have had valve leakage
which was repaired by the surgery). Dr. Dietz views surgery as a
“transition in life so people can sustain their current lifestyle.”
The activity level of someone with Marfan’s usually
remains the same.
POST SURGERY TESTS
a. An MRI/CT Scan of the lower segments of the aorta should be done
once every three years. This type of equipment is more sensitive
for showing dissection. (Note: An MRI cannot be done if someone
has metal in his/her body).
b. An Echocardiogram of the upper segments of the aorta should be done
once a year. (Note: Any portion of the aorta that is covered
by lung or bowel gas cannot be seen by an echocardiogram).