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!