Brief Answer:
Unlikely that you have Marfan syndrome

Detailed Answer:
Hello, I'm Dr. Branch, thanks for using Ask a Doctor. It sounds to me that you are unlikely to have Marfan syndrome, though you do have some of the features of it. The diagnosis or suspicion of Marfan syndrome is primarily a clinic one, the major criteria being aortic root dilation and ectopia lentis (displacement of the lens). The aortic root is the part of the aorta closest to the heart, so an abdominal aortic aneurysm would not be considered a positive for this, and a 3 cm abdominal aneurysm at your age is barely enlarged and wouldn't be considered too remarkable. Beyond that, there are other systemic symptoms, and each symptoms is scored so that if you have equal to or greater than 7, and a family history, you might be considered to have Marfan syndrome. But without a family history, and assuming you have had a heart echo without any aortic root dilation, you would not meet the criteria for Marfan syndrome.

Even with the systemic symptoms and signs, if we counted you positive for long arms, mitral valve prolapse, long face, nearsightedness, and scoliosis, that still only gives a score of 5. Notably, you stated you had fingers that were not too long, which is a common and important feature of Marfan syndrome and together the wrist and thumb sign gives 3 points. (There is a good website that can score these symptoms and signs and explains each one at https://www.marfan.org/dx/score).

If you wanted to get genetic testing to check for Marfan syndrome, it would be to look for the FBN1 mutation. But as I said, I don't think that would be necessary, and even if you did have Marfan syndrome, the most important medical problem from it is the aortic root dilation, so as long as you do not have any problems seen on echocardiogram, no specific treatment would be needed.

I hope that helps, please let me know if you have any questions about any of that, and I would be glad to discuss it with you further.

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Brief Answer:
Unlikely that you have Marfan syndrome

Detailed Answer:
Hello, I'm Dr. Branch, thanks for using Ask a Doctor. It sounds to me that you are unlikely to have Marfan syndrome, though you do have some of the features of it. The diagnosis or suspicion of Marfan syndrome is primarily a clinic one, the major criteria being aortic root dilation and ectopia lentis (displacement of the lens). The aortic root is the part of the aorta closest to the heart, so an abdominal aortic aneurysm would not be considered a positive for this, and a 3 cm abdominal aneurysm at your age is barely enlarged and wouldn't be considered too remarkable. Beyond that, there are other systemic symptoms, and each symptoms is scored so that if you have equal to or greater than 7, and a family history, you might be considered to have Marfan syndrome. But without a family history, and assuming you have had a heart echo without any aortic root dilation, you would not meet the criteria for Marfan syndrome.

Even with the systemic symptoms and signs, if we counted you positive for long arms, mitral valve prolapse, long face, nearsightedness, and scoliosis, that still only gives a score of 5. Notably, you stated you had fingers that were not too long, which is a common and important feature of Marfan syndrome and together the wrist and thumb sign gives 3 points. (There is a good website that can score these symptoms and signs and explains each one at https://www.marfan.org/dx/score).

If you wanted to get genetic testing to check for Marfan syndrome, it would be to look for the FBN1 mutation. But as I said, I don't think that would be necessary, and even if you did have Marfan syndrome, the most important medical problem from it is the aortic root dilation, so as long as you do not have any problems seen on echocardiogram, no specific treatment would be needed.

I hope that helps, please let me know if you have any questions about any of that, and I would be glad to discuss it with you further.

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Brief Answer:
Nothing concerning

Detailed Answer:
The mild enlargement at the aortic arch would not be concerning for Marfan's, and they specifically say the aortic root is normal, which strongly argues against Marfan syndrome. The appearance of Marfan syndrome, especially in the face, can be subtle, but I would say there is nothing in your appearance that strikes me as suggesting Marfan syndrome.

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Brief Answer:
Nothing concerning

Detailed Answer:
The mild enlargement at the aortic arch would not be concerning for Marfan's, and they specifically say the aortic root is normal, which strongly argues against Marfan syndrome. The appearance of Marfan syndrome, especially in the face, can be subtle, but I would say there is nothing in your appearance that strikes me as suggesting Marfan syndrome.

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Brief Answer:
I would not be too concerned.

Detailed Answer:
You're very welcome. Your abdominal aorta diameter is only barely large enough to be considered an aneurysm, so I wouldn't be too concerned about it. You should continue to exercise, and quit smoking if you do. Otherwise, you don't need to be on blood pressure medication, especially if it is making your blood pressure too low, since the evidence is not clear that this helps keep abdominal aortic aneurysms from getting bigger. I would recommend you get an ultrasound once a year to monitor how it progresses; we would start to consider surgery to repair the aneurysm if it was about 5.0 to 5.5 cm in diameter.

Please let me know if you have any questions and I'd be happy to help. If not, please let me know if I can help with anything in the future. Thank you for your question and take care.

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Brief Answer:
I would not be too concerned.

Detailed Answer:
You're very welcome. Your abdominal aorta diameter is only barely large enough to be considered an aneurysm, so I wouldn't be too concerned about it. You should continue to exercise, and quit smoking if you do. Otherwise, you don't need to be on blood pressure medication, especially if it is making your blood pressure too low, since the evidence is not clear that this helps keep abdominal aortic aneurysms from getting bigger. I would recommend you get an ultrasound once a year to monitor how it progresses; we would start to consider surgery to repair the aneurysm if it was about 5.0 to 5.5 cm in diameter.

Please let me know if you have any questions and I'd be happy to help. If not, please let me know if I can help with anything in the future. Thank you for your question and take care.

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