Marfan Syndrome Support Group
Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The most serious conditions associated with Marfan syndrome primarily involve the cardiovascular system. Marfan syndrome may cause leakage of the mitral or aortic valves that control the flow of blood through the heart. This may produce shortness of breath, an irregular pulse, and undue...
Hello, I'm almost 7 weeks post op from an Aortic Dissection I was blindsided by & almost died from. My Cardiothoracic surgeon told me I have a connective tissue disorder that accounts for it and believes it is Marfan's. I have not had anyone else diagnose me and am little surprised I guess. I had Pectus Excavatum (had surgery to correct it), hernia (surgery to correct it), cyst on my ovary (it ruptured), asthma (treating with meds), nearsighted (wear contacts or glasses), I'm skinny but not tall, am "double jointed" and have long, skinny fingers & toes so I seem to fit the profile. I wanted to know what others have experienced with Marfan's so I can maybe be prepared for what lies ahead. I was told to see a Rheumatologist and also wanted to know it that is how others got diagnosed as well. Thanks in advance for your help!
Wow, I have to tell you I am simply amazed you are still with us. To survive an aortic dissection, is just amazing. I have Marfan's as well, I was diagnosed when I was 5, my eye doctor had the good sense to recognize dislocated lens as a symptom of a bigger problem. My suggestion is to make the appointment with the geneticist, I wondered why they were sending you to a Rheumatologist, your geneticist will be the one to do any genetic testing but also they act as a care coordinator, which usually reduces the amount of money paid for a totally useless appointment. Oh and find out whom the heart surgeon was that worked on you, you may be able to continue cardio care with them. I wish you the best of luck and a speedy recovery:)
I am a genetic counseling student and what you described definitely sounds like you may have Marfan syndrome. I highly recommend that you see a geneticist and/or genetic counselor and potentially get genetic testing done. Then, they can help you determine which specialists you may need to see. People have Marfan syndrome if they have mutations or deletions in gene called FBN1. For this test you would need to have a small amount of blood drawn from a vein and then have it sent to a genetic laboratory. The specific lab I have looked at in Utah takes up to 35 to do the genetic testing, but other labs may have slightly shorter or longer processing times. If you have health insurance, it may cover the genetic testing. Meanwhile, you can check out www.marfan.org website. I like it because they have good information.
Irina