Marfan Syndrome is a genetic connective tissue disorder that affects, pretty much, the whole body. It has many key characteristics, such as tall stature, long fingers, wing span greater than height, dislocated lenses, stretch marks, crowded teeth, high-arch palate, flat feet, weak muscles and joints - but with Marfan Syndrome, what you really really worry about is the heart and aorta. The ascending thoracic aorta is weak and susceptible to aneurysm and dissection and unless you catch it early, it can kill you. It was once thought that Abraham Lincoln had it, but now that belief has become less popular.
When I was in med school (Georgetown, Class of '94), we learned all about it and I had many of the physical signs and characteristics. But, you know, I think all medical students, at one point or another, think they have one of the diseases they learn about. But, hey, it's genetic and neither of parents have it, so how could I have it, right? So what that I was a foot taller than my mother and 7 inches tall than my father, wore glasses, had stretch marks and was double jointed with long skinny fingers and flat feet? If this is a genetic disease (autosomal dominant) and my parents didn't have it, then I can't have it - so I blew it off. It actually became a bit of a running joke in the class and some of my friends wrote a song parody called Marfan Syndrome to the tune of "Bad to the Bone". You can see where this is headed, right?
After medical school, I managed to get through Internship and Residency in Internal Medicine (Mount Sinai, NYC) and then my Fellowship in Cardiology (North Shore, Long Island) without myself or anyone else giving it much thought. I do remember than during fellowship, while learning to do echos, we all practiced on each other - and saved the tapes. During my three years of fellowship, learning and then teaching echos, my aorta was normal the whole time. I'm pretty sure I still have the tapes (if anyone alive still has a VCR to play them).
I finished fellowship in 2000 and got a job a little further east on Long Island in Suffolk County. I got married in 2001 and finally got around to seeing a new eye doctor in 2002 - just a check up. But since this was my first visit, he did a more thorough exam - and told me that I had detached lenses bilaterally - also known as ectopia lentis. The second those words came out of his mouth, I knew I had Marfan Syndrome, as my mind flashed right back to med school. So, straight from that office, eyes all dilated and everything, I drove myself to North Shore hospital and asked one of the echo techs that I knew to quickly put the probe on chest and look at my aortic root. He did. And it measured 5.2 cm. The upper limit of normal is 3.7 cm. The surgical cutoff was 5.0 cm for Marfan Syndrome. I had Marfan Syndrome and I had an aortic aneurysm that was beyond the surgical cutoff. In about an hour and a half, I went from a routine check up with the eye doctor, to needing open heart surgery. Quite a day.
Little did I know back in med school that up to 30% of newly diagnosed cases were from a new mutation. I mean, yes, it was a bad day - but how lucky was I? I have echos from 1997 - 2000 showing a normal aorta. Then, all of a sudden, in 2002, it is severely dilated and needs surgery? Obviously, it was caught in a growth phase and if it hadn't been for the eye doctor, it would have gone undiagnosed and probably would have killed me at some point soon thereafter.
My wife and I were married just a year and now her husband needed a big heart operation and I was in danger of passing this gene on to our babies. We did go on to have two beautiful baby girls - both affected with Marfan Syndrome. For a long long time, I was overcome with guilt and depression knowing that the first thing I ever gave my girls was this disease, but they are being closely followed and on meds and taken care of. I found out I had it at age 33 and got very lucky. My kids are lucky because they were diagnosed at age one and will be taken care of and watched closely and they also have a father who is cardiologist and has Marfan Syndrome himself.
More to come on Marfan Syndrome soon.
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