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Marfan worries
I'm 33 and female, and I went to the doctor because my sister and dad have hypertrophic cardiomyopathy. I was screened at 20 and didn't have it, but didn't realize that I needed to get screened every 5 years. The doctor noted that I was tall and thin and asked if my sister looks like me, and I said yes. He said that I may have Marfan Syndrome. He asked me to do two hand tests, which didn't qualify me for Marfan.
I'm wondering, could he tell that I have Marfan just because I'm tall and thin? My family history of heart disease comes from my dad's side, but I seem to get my height from my mom's side. My mom and all of her sisters are taller than I am. My dad isn't particularly tall and my sister is shorter than me, and they are the ones with heart problems. I do have MVP and I am nearsighted, but those are the only symptoms I have. The doctor threw out the Marfan idea before I could tell him that my height doesn't come from the same side as the heart disease history. But now I'm panicking every day thinking I'm going to have an aneurysm. I have an echo in June but I'm so anxious I can barely function. Help!
I'm wondering, could he tell that I have Marfan just because I'm tall and thin? My family history of heart disease comes from my dad's side, but I seem to get my height from my mom's side. My mom and all of her sisters are taller than I am. My dad isn't particularly tall and my sister is shorter than me, and they are the ones with heart problems. I do have MVP and I am nearsighted, but those are the only symptoms I have. The doctor threw out the Marfan idea before I could tell him that my height doesn't come from the same side as the heart disease history. But now I'm panicking every day thinking I'm going to have an aneurysm. I have an echo in June but I'm so anxious I can barely function. Help!
Marfan's syndrome is a genetic disorder. This means that you are born with it and it is passed on through families through special codes inside cells, called genes.
The connective tissue in your body becomes weakened. Different parts of your body can be affected including your heart, blood vessels, eyes and bones. Some people with Marfan's syndrome only have a few problems, while others are more severely affected.
The connective tissue in your body becomes weakened. Different parts of your body can be affected including your heart, blood vessels, eyes and bones. Some people with Marfan's syndrome only have a few problems, while others are more severely affected.
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However, there are also a lot of things that look Marfan-ish at first glance but are not Marfan's or fully Marfan's. To be diagnosed, you actually need to be examined by a specialist like a geneticist or an orthopedist who will use a set of guidelines or rules called the Ghent Criteria. These will concentrate on three things, though, and they are 1) family history, 2) Eye signs, and 3) the size of the base of the aorta.
Other than one sister, you don't mention relatives who are unusually tall, thin, and who ALSO have died of heart problems. To get a positive family history, you basically need a number of family members who have been unusually tall, thin, maybe hyperflexible, and have had extreme eye and heart troubles.
The significant eye sign of classic Marfan's is a lens that's actually out of place, and is something your eye doc would have already noted and commented on during an eye exam with dilation of the pupil. If he hasn't said anything about it, you probably don't have it.
Another classic sign is that the root or base of the aorta is above a certain size. To determine that, you need an echo, and that's what you're having in a week or two.
So, in the meantime, consider this: Your health is really just the same as it has been up to now, and you feel pretty good overall. Right? The only thing that's different is that some doc--probably not a specialist--thought you looked a tad Marfan-ish.
Try to relax and wait for your echo to see if anything unusual is going on. On the very small chance that something Marfanish does turn up, you will be referred to a specialist to direct your care and watch over you.