Growth rate, genetic testing for aortic aneurysm

Hello @annac3,

Welcome to Connect. I’d like to offer some information about genetic conditions that may be the cause for aortic aneurysms:
People who are born with Marfan syndrome, a genetic condition that affects the connective tissue in the body, are particularly at risk of a thoracic aortic aneurysm. Those with Marfan syndrome may have a weakness in the aortic wall that makes them more susceptible to aneurysm. Besides Marfan syndrome, Ehlers-Danlos, Loeys-Dietz and Turner syndromes, and other family-related disorders can cause an aortic aneurysm. Other medical conditions. Inflammatory conditions, such as giant cell arteritis and Takayasu arteritis, may cause thoracic aortic aneurysms. https://www.mayoclinic.org/diseases-conditions/thoracic-aortic-aneurysm/symptoms-causes/syc-20350188

Mayo Clinic's Department of Clinical Genomics provides access to the latest genomic testing techniques and is recognized for outstanding contributions to research in genetics and genomics. You can read more about the genetic testing program here: https://www.mayoclinic.org/tests-procedures/genetic-testing/about/pac-20384827
If you’d like to make an appointment at Mayo Clinic, please call one of our appointment offices – you can also request an appointment online. The contact information for all 3 Mayo Clinic locations (Minnesota, Arizona, Florida) can be found here: http://mayocl.in/1mtmR63

I’d like to bring in some members who may have experiences to share. Please meet @degarden_girl @laverne @crhp194 @rory @thegoodwife @ch246cf10 @debbydiane @maryswims @twocents @prward @anniejam @bryanfox @tj1778 @wittmack @elsinann @hopeful33250 @estanley2008 @yurkosolhan.

You may also be interested in reading and joining in these Connect discussions:
– Large ascending aorta in young healthy 45 year old woman http://mayocl.in/2gwDknX
– Ascending aorta dialation https://connect.mayoclinic.org/discussion/ascending-aorta-dialation/
– Congenital Heart Disease – What Patients Need to Know https://connect.mayoclinic.org/webinar/webinar-topic-challenges-in-adult-congenital-heart-disease-what-the-patient-needs/

@annac3, may I ask if your doctor has listed any options for treating the aortic root aneurysm? Do you have any activity restrictions?

No activity restrictions. I’m monitoring BP daily. Honestly not feeling very well-informed by my doctor. Follow up visit with him in February.

How do you get a genetic test done at Mayo? It seems like a common sense thing to have done if you have suspicion of aortic heart problems being familial. I called mayo to try to get one done and they are reviewing my case... I'm not sure what there is to review. I have a 4.4 cm dilation, and my brother and uncle both died prematurely from heart attacks (unfortunately neither had an autopsy). Am is missing something or shoulda genetic test be a fairly routine part of aortic aneurysm treatment if there I any suspicion of it being a familial issue

Interesting discussion. Be prepared for unclear criterion as to when to go for surgery. Attention given to an enlarging aortic root , bicuspid valve, or actively growing aortic diameter seem to be somewhat "location, location"- depending on where you live in the country. Initially, don't be surprised to get dismissed as so many people have bicuspid valves and live complete lives without growth. Others go on to repair at varying size determinations. One section of the country "fix" the aneurysm at 5 whilst another part of the country waits till the Aortic valve scleroses or begins to fail. Then still other specialists hedge the size of the aneurysm and will follow the trajectory of the growth - all the while dismissing concern. I had mine repaired at age 77 yrs and only once the aortic valve failed. Up until that point, the size and slow growth didn't seem to concern my providers. I had known about what they called the large aortic root for close to 10 year, and only recommendation was to continue surveillance whilst maintaining a healthy life. I was never warned about activities that increase pressure in the aorta such as squats or aggressive weight lifting.
Needless to say, the surgery was much more intense and longer than anticipated. My ascending aorta required a longer graph than expected. I was warned preop that my native pacemaker could be damaged during the repair. I am now 15 months out, feeling well. I required another surgery to get a pacemaker followed by still a third surgery as I got cardiomyopathy from the first dual chamber pacemaker. My body needed a third lead. I wouldn't rush back to do it again, but given the dynamics, it wasn't bad. The first couple of weeks post op is more weakness than pain. The chest wound is surprisingly not bad at all.
Grateful we life now and in this country where repair is even an option. I just encourage you all to choose your medical team and then trust them. Each day is a blessing!

Talking to my cardiologist whose area of research is around, bicuspid valves, aneurysms and genetics, there are multiple factors they consider, but more than the size, it is the size of the aneurysm compared to the body size. I am 5’ 6” and my aneurysm was 5.2 cm when I had my surgery 4 years ago, for me 5.2 was considered very large, for someone a lot larger that may not be the case