I've recently had an echocardiogram that indicated that I had an dilatation of the aortic root. In investigating this online, I came across Marfan Syndrome. I appear to have a number of the symptoms of Marfan including the problem with the aorta noted above, as well as sleep apnea, an astigmatism in my eye, and early signs of emphysema (airtrapping indicated on a PFT test) at only 41 years of age. Lastly, I also read that older fathers are more likely to have new mutations of the fibrillin gene appear in chromomsome 15 and that Marfan is caused by a single gene for fibrillin on chromosome 15. My father was 49 when I was born.
However, I do not remotely resemble the typical Marfan patient's physical characteristics but, to my surprise, when I measured my armspan, I found that it is greater than my height.
I understand there is really nothing that can be done about Marfans except to monitor and treat some of the symptoms. I use a CPAP machine for sleep apnea and it is my understanding that this may retard the widening of my aortic root.
My question is whether there is anything else I should do to confirm that I do indeed have this disease. Does it make a difference if I'm treating the symptoms anyway? Also, more importantly, I was wondering whether there is any research that links Marfan with hypothyroidism. It seems both possess many of the same symptoms and I was considering seeing an endocrinologist to have my thyroid examined.
Thanks.