Blood pressure medication may revolutionize treatment of Marfan syndrome

Contact: Jim Keeley
Howard Hughes Medical Institute
A commonly prescribed blood pressure medication may provide the first ray of hope in preventing potentially deadly complications of Marfan syndrome, a genetic disease that weakens the structural meshwork of blood vessels. People who have Marfan syndrome have a high risk of developing aortic aneurysm, which can lead to rupture of the heart’s largest artery, causing sudden death.

In studies published in the April 7, 2006, issue of the journal Science, Howard Hughes Medical Institute researchers at Johns Hopkins University School of Medicine have shown in mice that the drug losartan, which is manufactured by Merck and sold under the brand name Cozaar, can prevent progression of Marfan syndrome and may also restore normal architecture to the wall of the aorta.

Marfan syndrome is a connective tissue disorder that affects about one in 5,000 individuals. Manifestations include long bone overgrowth, lens dislocation, emphysema, thickening and dysfunction of the heart’s mitral valve, and aortic aneurysm with a predisposition for early vascular rupture and sudden death.

Losartan attenuates development of aortic aneurysm by lowering the activity of a pervasive developmental molecule called transforming growth factor beta. In a sea change in thinking about the origins of the disease, researchers have recently discovered that transforming growth factor beta — not simply a defect in a structural protein — is most likely responsible for the syndrome’s catastrophic developmental defects.

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Don’t mess w/ Marfan – Talk w/ a Doc

Sun Herald – 11/26/05

DEAR DR. DONOHUE: I am the guardian of a 13-year-old boy who shows signs of Marfan’s syndrome. How can I find out if he really has it? He is 6 feet tall, very thin and has long fingers and toes. — K.M.

ANSWER: Marfan’s is a genetic illness with some fairly distinctive physical features. People with the syndrome are tall and have long, thin arms and legs. Their fingers are elongated and tapered. They often have loose joints. They might have a deep depression in their breastbone, or the bone might stick out.

The dangerous changes of Marfan’s are internal. It can cause the aorta — the largest body artery — to be dilated and somewhat flimsy. The aorta can rupture when Marfan’s patients are engaged in vigorous exertion. You might recall the story of the Olympic volleyball player who lost her life during a match due to a ruptured aorta. No one had recognized that she had the syndrome. The external features can be quite subtle.

Take the boy to the family doctor. If the doctor thinks Marfan’s is a possibility, he or she can order an echocardiogram to detect any changes in the aorta. The echo can also reveal leakages in the aortic and mitral valves, two other conditions frequently found in Marfan’s.

Fixing thoracic aneurysms

News 8 Austin | 24 Hour Local News | HEADLINES | Fixing thoracic aneurysms

Certain diseases can also weaken the aortic wall and increase one’s risk of developing an aneurysm. These diseases include Marfan syndrome, syphilis and tuberculosis. Thoracic aneurysms are more common in men than in women.

Doctors say, because of the high death rate when a rupture occurs, it is crucial to fix aneurysms before they burst. The standard fix is a major open surgery. The surgeon makes a large incision in the chest and replaces the weakened part of the aorta with a graft. The graft allows blood to pass through it and cuts off blood supply to the aneurysm. Without blood, the aneurysm disappears. The hospital stay is about a week for this surgery, and it can take months to recover.

Now, doctors are offering a safer, easier option for repairing aneurysms. Doctors can make a small incision in the groin and thread a catheter up to the aorta. Then, they advance a graft through the catheter and deploy it where the aneurysm is. The graft opens and seals the area. It eliminates blood from getting to the aneurysm, so the aneurysm shrinks. The procedure is much less invasive, requiring only the small incision in the groin where the catheter enters the artery.

Diagnostic power of aortic elastic properties in young patients with Marfan syndrome

Diagnostic power of aortic elastic properties in young patients with Marfan syndrome

BACKGROUND: In patients with Marfan syndrome, progressive aortic dilation implicates a still-unpredictable risk of life-threatening aortic dissection and rupture. We sought to quantify aortic wall dysfunction noninvasively, determine the diagnostic power of various aortic parameters, and establish a diagnostic model for the early detection of aortic abnormalities associated with Marfan syndrome.

METHODS: In 19 patients with Marfan syndrome (age, 17.7 ± 9.5 years) and 19 age- and sex-matched healthy control subjects, computerized ascending and abdominal aortic wall contour analysis with continuous determination of aortic diameters was performed out of transthoracic M-mode echocardiographic tracings. After simultaneous oscillometric blood pressure measurement, aortic elastic properties were determined automatically.

RESULTS: The following ascending aortic elastic parameters showed statistically significant differences between the Marfan group and the control group: (1) decreased aortic distensibility (P

Debunking myths about Marfan Syndrome

I used to maintain an entire site about Marfan Syndrome (sometimes abbreviated as MFS) but junked it due to lack of participation. Howver, just because I mothballed the site the news alerts don’t stop arriving in my inbox. So here is the latest story on Marfan…

By TRICIA STUART , Special to The Herald Press

A rare disease, Marfan Syndrome can cause sudden cardiac death in the young and in athletes, but Marfan is only one disease that kills young athletes.
“Reasonable and careful screening of young athletes is worthwhile. The size of the joints and stretch marks on the skin are common in Marfan,” according to David Silverman, associate professor of medicine and director of non-invasive cardiology at the University of Connecticut Health Center.

Silverman works with colleague and world-famous geneticist, Petros Tsipouras, while researching Marfan Syndrome, a little known disease that affects the connective tissues, including the heart.

Marfan Syndrome has no age limitations and it is neither race nor gender specific.

Often thought of as a tall person’s affliction, “the first of many misconceptions about the illness is that height is in no way a criteria for Marfan Syndrome,” Silverman said. “I’ve met many who are short.The ratio of upper torso to lower body is a criteria, but tallness doesn’t have any thing to do with it.”

Read the full article.


visit the National Marfan Foundation Web site.

It’s pretty weird to find out one day, just about a month after your 21st birthday, that you have a genetic disorder that could kill you before you turn 40. That’s what happened to me, and here is my story so far . . .

I was born with some of the classic indicators of Marfan Syndrome, but in the mid to late ’70s they didn’t have all of the fancy medical diagnostic equipment that we have today and my symptoms are really pretty mild compared to what they could be. No one really gave it too much thought for 20 years, so I have dislocated lens and some longer than average limbs-that couldn’t be a ‘syndrome’ could it?

When I was 20, my vision became markedly worse, the shape of my eye was changing radically and the doctors couldn’t figure out why, so like doctors do, they sent me to some specialists. And like specialists do, they ran a whole bunch of tests to rule out things like bubonic plague, martian venereal diseases and chronic halitosis. Along the way, they revisited the idea of Marfan syndrome, I know that they must have been grasping at straws because that means someone actually read my chart all the way back to the first couple of years of my life-you don’t get that kind of treatment unless you are a medical marvel or something. Well I guess I am.

After much hemming and hawing, they sent me to a cardiologist, who ordered up thousands of dollars in EKG, echocardiograms blah blah blah and then when he thought he saw something, he sent me right to the man Dr Reed Pyeritz. This guy is possibly the world’s foremost clinician and physician in regard to Marfan Syndrome, and even he wasn’t sure I had Marfan Syndrome. But in the end he couldn’t do anything else but drop the bomb, there were just too many coincidences.

So there I sat, I had the answer to my many small chronic ailments: eye problems, joint pain, slow healing of cuts and bruises, weird stretch marks on my shoulders, all that goofy shit. And I also gained the knowledge that at any time my aorta cut burst open and I could die in minutes.

Talk about a bummer!

Dr. Reed put me on beta-blocker drugs to keep my heart in check and he told me and told me and told me that I have to drop some weight (like 50 pounds) and that I shouldn’t ever consider myself a candidate for contact sports or marathons (like that would ever happen) and sent me on my way. That was four years ago, I went back to see him once about a year after my initial diagnosis and he told me all of the same things, especially since I stopped taking the drugs and didn’t lose the weight and continued to play rough-house sports at school.

Today I am living in denial, I can admit it but that doesn’t mean I am going to do anything about it. I guess that if I forget about it, my life can seem normal. I don’t want to live with a ‘syndrome’. I don’t want to think about the 50% chance that my children will inherit my genetic mutation. I especially don’t want to think about my children getting a severe form of Marfan syndrome and being physically malformed and doomed to an early death.

But it doesn’t go away. And I can’t escape probability. And I can’t accept any of it, damn it.

Is it wrong to be angry? Is it wrong to want to wish my misfortune on someone else, a nameless stranger I will never meet perhaps? Is it wrong to play this down with my wife , family an friends?

The short answers would be: No, no, and yes.

Looks like it is time to put my hands in the water and start to paddle, because I have certainly put myself up the creek without an oar.

Don’t be like me, if you’ve got a problem: attack it head on. That’s what I am going to start to do, and I’ll keep you up to date as it happens.