Bigskyfam Posted December 17, 2014 Report Share Posted December 17, 2014 Hello friends. Anyone with pots and a cardiac echo that showed aortic root dilation? And if so, do you have eds? Quote Link to comment Share on other sites More sharing options...
Katybug Posted December 17, 2014 Report Share Posted December 17, 2014 I do have EDS. Thankfully, I do not show any aortic root dilation but my geneticist and cardiologist have made it clear that I must have a cardiac echo every year and images are to be compared year over year by my cardiologist to pick up on even subtle changes. Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted December 17, 2014 Author Report Share Posted December 17, 2014 Thx for the reply. I have pots... Awaiting genetic testing for eds... My echo showed borderline last year and mild dilation this year. Wearing my 30 day holter. I think I finally found a doc who is ready to investigate. Glad I switched docs. No stone left unturned I think is the expression Quote Link to comment Share on other sites More sharing options...
Katybug Posted December 17, 2014 Report Share Posted December 17, 2014 Hey. I know it would be a giant pain in the rear end for you, but if you think you have EDS with significant vascular involvement or true vascular EDS, please see one of the super specialized specialists in this disease. There are 2 here in Baltimore. I'm sure there are some others sprinkled around the country try. Www.ednf.org has a forum called Inspire. Their members and moderators are really good at helping people find doctors. It is so important to get proper management for this, not just from a cardiologist but from someone who understands the disease in it's entirety. Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted December 17, 2014 Author Report Share Posted December 17, 2014 I'm on other side of country. I will look into it! Thanks for the info. I know I can always count on you for good vibes and info!!! Quote Link to comment Share on other sites More sharing options...
momandmore Posted December 20, 2014 Report Share Posted December 20, 2014 Aortic root dilation is also a symptom of connective tissue disorders other than EDS, particularly Marfan or Loey-Dietz Syndrome. It would be prudent to get it investigated if you haven't already. Quote Link to comment Share on other sites More sharing options...
Katybug Posted December 20, 2014 Report Share Posted December 20, 2014 I just reread one of your posts. Just want to make sure you're aware that only 2 types of EDS have genetic testing. The details of diagnosis of each type including the efficacy of genetic tests can also be found at Www.ednf.org. I am pretty sure that most geneticists that are familiar with EDS should also be able to recognize Marfan's and Loey-Dietz per momandmore's post above. I know my geneticist handles these patients in addition to her EDS'ers. Quote Link to comment Share on other sites More sharing options...
momandmore Posted December 20, 2014 Report Share Posted December 20, 2014 I have a friend whose child had Loeys-Dietz Syndrome and was seen by many specialists at a major children's hospital for years and no one recognized her condition. They went to Johns Hopkins, where they really know connective tissue disorders, for a second opinion about something and the doctor saw signs that everyone else had missed. As Katybug said, geneticists will know it, but not most other specialists, since it was only "discovered" in 2005. It's not a bad idea to bring it up to your doctor and tell them I need this need this to be ruled out. Your doctor may be able to get you into a geneticist faster than if you tried yourself.For someone with Loeys-Dietz Syndrome, they want the size of the aortic root measurement to be significantly lower than for Marfan Syndrome. The positive part is that there is treatment to help. And that's a good reason to try to be seen soon. Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted December 21, 2014 Author Report Share Posted December 21, 2014 Thanks guys for the info. Here I am in my upper 30s trying. To figure it out. Decided for genetic testing as I have kiddos. They show a few symtoms of pots and eds. Feels like nailing jello to the wall. Ugh Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted December 21, 2014 Author Report Share Posted December 21, 2014 I have confirmed raynouds as well Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted May 11, 2015 Author Report Share Posted May 11, 2015 Further dilation on repeat 6 month echo :/Rheumatology consult end of June Quote Link to comment Share on other sites More sharing options...
Katybug Posted May 11, 2015 Report Share Posted May 11, 2015 That's unfortunate news. I'm so sorry. Have you looked into seeing a geneticist that is well versed in connective tissue diseases yet? I know it's a royal pain but it is so important to get with a doctor that really understands this as the aortic root dilation is a serious concern. I've got you in my good thoughts! Quote Link to comment Share on other sites More sharing options...
SarahA33 Posted May 12, 2015 Report Share Posted May 12, 2015 Hi there,Glad hear to hear you've switched to a doc who is really thorough, that helps a ton with peace of mind! I know that the 30 day holter can be a bummer, but it picks up such useful info and goes by so quickly! Take care of you, Awesome news that you are moving forward with the testing your kids!Wish I could help in some way.... Sending you and your whol fam a giant hug! Sarah Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted April 30, 2016 Author Report Share Posted April 30, 2016 My repeat MRI this week shows further aorta dilation. I'm now at 4.0. Cardio has said she doesn't know what to do. One month til geneticist appt. prayers pls as I'm not feeling well. Quote Link to comment Share on other sites More sharing options...
Katybug Posted April 30, 2016 Report Share Posted April 30, 2016 I'm so sorry! Â Could the cardiologist call and consult with the geneticist so they can get things going a bit faster either with a treatment plan or getting an appointment sooner? Healing thoughts and energy coming your way. Quote Link to comment Share on other sites More sharing options...
Amalia01 Posted April 30, 2016 Report Share Posted April 30, 2016 Can the cardiologist have your appointment bumped up for you? Sorry you're not feeling well. Best wishes. Quote Link to comment Share on other sites More sharing options...
Katybug Posted April 30, 2016 Report Share Posted April 30, 2016 Also,  I'm wondering if a consult with a cardio - thoracic surgeon is in order? I don't know but it seems like that would be an appropriate specialist for this situation. Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted April 30, 2016 Author Report Share Posted April 30, 2016 She's done. First available was October however my son was dx by their clinic with eds last month. Â ( no pots) so they bumped it up to telemed appt mid June. I'm scared. There. I typed it. I've always been the pos upbeat gal. I'm having svt episodes and just generally unwell. Docs here aren't prioritizing me. Quote Link to comment Share on other sites More sharing options...
Amalia01 Posted April 30, 2016 Report Share Posted April 30, 2016 See if they have a cancellation list so you can get in sooner. Let the staff at the office know what is going on and consult with your PCP as well. I hate that have to advocate for ourselves when we are really not feeling well. Quote Link to comment Share on other sites More sharing options...
Amalia01 Posted April 30, 2016 Report Share Posted April 30, 2016 What is the treatment a dilated aorta? Is Surgery involved? Quote Link to comment Share on other sites More sharing options...
SarahA33 Posted May 1, 2016 Report Share Posted May 1, 2016 Hi there, so sorry  I will be thinking of you and wishing you all the best. I so wish you weren't going through this right now, we're here for support when you need it. Sending you a big hug and positive thoughts.. xo http://circ.ahajournals.org/content/119/6/880.full  -- thought you might find this article of some interest b/c it mentions EDS and Aortic dilatation of >4.0  Quote Link to comment Share on other sites More sharing options...
Katybug Posted May 1, 2016 Report Share Posted May 1, 2016 I think it is totally normal to be scared and I'm glad you were finally able to say it. Do you need referrals for insurance purposes? When you say, "she's done", do you mean the cardiologist? Quote Link to comment Share on other sites More sharing options...
Bigskyfam Posted May 1, 2016 Author Report Share Posted May 1, 2016 I do need referrals and yes new cardio said she said this out of her zone. She at least got me the repeat MRI. The cardio group in my hometown refuses to see me. They said let my pots doc manage me. She's a neuro. thank you Sarah I will read it. Y'all have been so good to me here. I hope I've been even an ounce of what I received back to the group. i know bb can be used. They aren't the best for me. Surgery once you get close enough. i can google search and see what not to do i.e. Snow shovelling, high impact, lifting pushing... But it's still scary to not have someone guiding me thru it. I know you guys get what I'm saying Quote Link to comment Share on other sites More sharing options...
dancer65 Posted May 1, 2016 Report Share Posted May 1, 2016 Like Katy said I think it's normal to be scared I am just sorry you are dealing with this.  I am sending good vibes and hugs across the Atlantic ! Please keep us updated will be thinking of you Quote Link to comment Share on other sites More sharing options...
corina Posted May 1, 2016 Report Share Posted May 1, 2016 I agree with the others, I would be scared too! Do know that we highly appreciate you volunteering at our forums! You do make a difference! Take care! Quote Link to comment Share on other sites More sharing options...
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