Marfan syndrome

Hi, and thanks for taking my question.

I seem to have the MASS syndrome, not full-blown Marfan, although I have never been officially diagnosed with MASS. Obviously I have some Marfanoid characteristics, as does my sister. Neither of our parents appear Marfanoid at all. Looking at the extended family, our mother's side has zero Marfanoid people, but my father's side seems to have several (my Dad's cousin, a couple of my own cousins, etc.) Nobody on my Dad's side of the family has ever died - to the best of my knowledge - before 80, and several have made it to 90, I think even 100+.

Questions:

1. What are the chances that BOTH my sister and I would have a spontaneous mutation?

2. I had an echo done in the spring of 2004 that revealed an AR at Valsalva of around 3.5. An echo done a month later revealed 3.45, and then another echo done  6 months later showed 3.66. Should I be worried about rapid expansion, or is this well within normal limits of variation? The 3.45 and 3.66 were both done by the same tech in the same place using the same equipment.

3. It's been 10 months since my last echo (3.66). Should I be getting an echo ASAP due to the possibility of rapid expansion, or can I wait until 12 mos?

Thanks so much for this service!

[Cleveland Clinic]

nickppatel,

thanks for the post.

1. What are the chances that BOTH my sister and I would have a spontaneous mutation?

Marfan syndrome is a difficult syndrome to diagnose and the genetics can be quite complex with technical things like spontaneous mutations, recessive traits and incomplete penetrance. It is possible and due to these factors, there are still clinical criterial used to diagnose marfans in those without mutations.  My advice would be to seek diagnosis in a ceter that specializes in treating and diagnosing those with the disease.

2. I had an echo done in the spring of 2004 that revealed an AR at Valsalva of around 3.5. An echo done a month later revealed 3.45, and then another echo done 6 months later showed 3.66. Should I be worried about rapid expansion, or is this well within normal limits of variation? The 3.45 and 3.66 were both done by the same tech in the same place using the same equipment.

While there is variation here, it is difficult to comment without seeing the images. Current guidelines generally say a root diameter over 55 mm is the level at which surgery would be indicated in patients with Marfan. An mri may be a better way to image the whole aorta more precisely.

3. It's been 10 months since my last echo (3.66). Should I be getting an echo ASAP due to the possibility of rapid expansion, or can I wait until 12 mos?

It would depend on your disease and whether there were clincal factors that led me to worry it was expanding. I would discuss with your physician. In patients with Marfan's generally an echo every 12 months unless there is rapid expansion is used.

good luck

[zk]

Doc says "Current guidelines generally say a root diameter of 55mm is the level at which  surgery would be indicated in patients with marfan." Is this typing error? I always thought it was between 4.5 and 5.0mm.Does anyone know if this is current guideline at Cleveland Clinic and other centers? What does your doctor think about expansion and variation? Up to 3.7cm is normal.