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Marfan's Syndrome

M

MomAndSkoorbaby

Diamond Member
Any one here have it? Anyone here know of anyone that has had it or currently has it?

Thanks. 🙂


This is a genetically inherited connective tissue disorder, which results in problems and weakness of the specialized body tissues that provide elasticity to our muscles, bones, tendons, and ligaments; the walls of our blood vessels; the heart and its valves; our lungs and kidneys; the gel-like substance in our eyes; and the synovial fluid around our joints. People with Marfan's syndrome are usually quite tall, lanky, and thin. The most serious heart problem is enlargement of the base or root of the aorta as it leaves the left ventricle. Because the normal changes of pregnancy increase blood volume, relaxes or enlarges blood vessels, and enlarges the heart slightly, a woman develops an increased risk for worsening her heart condition if she has Marfan's syndrome. Often, women with Marfan's syndrome already have some mitral valve prolapse (MVP) and regurgitation. Pregnancy can often worsen their MVP or regurgitation and subsequently worsen their risk for heart failure.

In addition, the base or root of the aorta becomes widened and stretched. In Marfan's syndrome the inherent general weakness of blood vessels and of the aortic root in particular, can result in a dissection or separation of the three layers which make up the wall of the aorta. Together, these three layers are strong enough to withstand the high pressure of blood as it is squeezed out of the left ventricle. However, if these layers are separated, they become weak and vulnerable to those same high pressures and can result in an aneurysm or bubble in the wall of the vessel close to the base of the aorta, which will eventually rupture under increased pressure. Or it can result in a complete tear in the wall of the blood vessel. Either way, the outcome is severe because all the blood being pumped out of the left ventricle fills the chest cavity rather than circulating out to the rest of the body. Very few people survive a ruptured aortic aneurysm, especially so near the heart as is the aortic root.

 
yea, I just scanned the webmd.com write up, pretty scary stuff.

blatantly borrowed from webmd, here's the linkhttp://my.webmd.com/content/article/4/1680_51819.htm?lastselectedguid={5FE84E90-BC77-4056-A91C-9531713CA348}

This is a genetically inherited connective tissue disorder, which results in problems and weakness of the specialized body tissues that provide elasticity to our muscles, bones, tendons, and ligaments; the walls of our blood vessels; the heart and its valves; our lungs and kidneys; the gel-like substance in our eyes; and the synovial fluid around our joints. People with Marfan's syndrome are usually quite tall, lanky, and thin. The most serious heart problem is enlargement of the base or root of the aorta as it leaves the left ventricle. Because the normal changes of pregnancy increase blood volume, relaxes or enlarges blood vessels, and enlarges the heart slightly, a woman develops an increased risk for worsening her heart condition if she has Marfan's syndrome. Often, women with Marfan's syndrome already have some mitral valve prolapse (MVP) and regurgitation. Pregnancy can often worsen their MVP or regurgitation and subsequently worsen their risk for heart failure.

In addition, the base or root of the aorta becomes widened and stretched. In Marfan's syndrome the inherent general weakness of blood vessels and of the aortic root in particular, can result in a dissection or separation of the three layers which make up the wall of the aorta. Together, these three layers are strong enough to withstand the high pressure of blood as it is squeezed out of the left ventricle. However, if these layers are separated, they become weak and vulnerable to those same high pressures and can result in an aneurysm or bubble in the wall of the vessel close to the base of the aorta, which will eventually rupture under increased pressure. Or it can result in a complete tear in the wall of the blood vessel. Either way, the outcome is severe because all the blood being pumped out of the left ventricle fills the chest cavity rather than circulating out to the rest of the body. Very few people survive a ruptured aortic aneurysm, especially so near the heart as is the aortic root.

What This Means for Your Pregnancy

The defining criteria of how well pregnancy may be tolerated depends on how dilated or enlarged the root of the aorta is, which can be measured by echocardiogram (an ultrasound of the heart). If the diameter is less than 40 millimeters (or 4 centimeters), then pregnancy is usually tolerated fairly. If, however, it is greater than 4 centimeters, the risk for death during pregnancy is at least 50 percent. With this significant dilation of the aorta, pregnancy is not recommended. On the other hand, in cases of only mild or moderate dilation, without other significant heart problems, the prognosis for a positive pregnancy outcome is good.

Implications for the Baby

Because this is a genetically inherited disorder, your baby has a 50 percent chance of developing this condition also. As discussed before, if you remain without symptoms, your baby will generally do well. If, however, you have symptoms of heart failure (fatigue, shortness of breath, fainting, chest pain, or water retention) then your baby is at risk for problems with growth.

Anticipated Management and Care

An echocardiogram is recommended early in pregnancy to assess the diameter of the aortic root, as well as mitral valve involvement. Additionally, an echocardiogram is recommended monthly throughout pregnancy. Both you and your baby will be closely monitored for signs and symptoms of worsening disease. You will be watched for any of the above mentioned symptoms, as well as worsening heart changes. Your baby will be watched closely via ultrasound for adequate growth. Additionally, the baby will be evaluated after birth to see if she has inherited Marfan's syndrome.

If there are any indications of problems regarding your tolerance of pregnancy, your activity will most likely be significantly restricted. Also, you may be placed on medications to prevent high blood pressure and a racing heartbeat in order to reduce stress on your aorta. During labor and delivery, a special intravenous line may be placed to monitor volume and pressure closely. Epidural anesthesia is carefully administered during vaginal and cesarean deliveries due to the risk of a significant drop in blood pressure. As with other heart conditions involving valve problems, prophylactic antibiotics will be used to prevent risk of a heart or valvular infection. If repair of the aorta is indicated during or after pregnancy, it is recommended that surgery be delayed, if possible, until four to six weeks after delivery.
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Isn't that the disease they think Abraham Lincoln had? (for the benefit of the Canadians, he was a US President. 😉 )
 
Originally posted by: kranky
Isn't that the disease they think Abraham Lincoln had? (for the benefit of the Canadians, he was a US President. 😉 )
Click to expand...

Yes, they think he had it.

My father and brother have to be tested, hence, so do I. 🙁
 
Yes, I have a friend who has it. (She's 30.) She has a genetic disease that makes her tall and skinny with big boobs. 🙂

And yes, they think Lincoln may have had it.
 
From the pictures I've seen of you, you don't look like you would have it. Aren't people who suffer from it supposedly very tall and gangly looking?
 
Originally posted by: TallGeese
Originally posted by: MrsSkoorb
My father and brother have to be tested, hence, so do I. 🙁
Click to expand...
Do your dad and brother actually have it? 🙁
Click to expand...

We don't know yet. My brother is 6'4'' and is 135 pounds. I am 5'8'' and about 10 pound lighter. We both have many of the symptoms but of course the only way to tell is genetic testing (which my father and brother will have done) and echocardiograms, which all three of us will get completed. My father is about 6'2'' and his cardiologist thought it was a very high probability that he has it. He has never been very active (still very thin) which is probably why he is still alive, if indeed he does have Marfan's.

I doubt very seriously that I have Marfan's. The family history would suggest that my father and brother do, but hopefully not. Of course, we won't know the results until this summer....gotta love the long waits with the Canadian health care system. Sigh.
 
Originally posted by: TallGeese
Originally posted by: MrsSkoorb
Do your dad and brother actually have it? 🙁
Click to expand...
We don't know yet...I doubt very seriously that I have Marfan's. The family history would suggest that my father and brother do, but hopefully not.
Click to expand...
Well we sure hope not too!!! 🙁
 
Damn you used to talk about how skinny your brother was. I didn't know it could be something like this. 🙁
 
Funny you bring it up.
My wife and I, we had a roommate for about 6 months. She had it, ended up dying on our living room floor from it. her mother has it as well, and we're good friends with her. If you nee dinfo or anything, let me know. If you know someone who has it and they have questions, probably can egt them asnwered.
 
If the Skoorbs have any questions about it, PM or email me. I'm going to bed and this will be a distant memory by the time I wake up in the morning.

G'Nite ATOT!
 
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