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genetic testing for an aortic aneurysm

Posted by tstet13 @tstet13, Apr 7 3:16pm

I am a 60 yr. old female diagnosed with a 4.4 AAA from an MRI screening for breast cancer. I also had an echocardiogram that showed it to be 4.1 and I am scheduled for a CT scan later this month, hopefully to get a correct size. I am wondering if any of you have had genetic testing done and found it to be beneficial? I also met with a cardiovascular genetics counselor, he warned me that if I had the genetic testing done, I could possibly be denied life insurance or disability later in life depending on the results. The benefits of course are to likely find out why I developed the AAA and to allow my children and siblings to be monitored. I would love to hear from anyone that has had genetic testing done for their aneurysm. Thank you!

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cheri53 | @cheri53 | Apr 8 12:43pm

My maternal grandfather and his sister both died from a ruptured aortic aneurysm. The doctors told his children to all be checked, apparently it was considered a genetic issue. Two of his 5 children had it and were able have it fixed. We were all also warned to look for it. So it is in my records and is checked yearly.

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tstet13 | @tstet13 | Apr 8 2:59pm
In reply to @thisnthat "Hi, tsetet13, Recently I received the results of my genetic testing. All “normal.” Yet the cardiothoracic..." + (show)
@thisnthat

Hi, tsetet13,
Recently I received the results of my genetic testing. All “normal.” Yet the cardiothoracic surgeon and genetics counselor both emphasized that is not necessarily an all-clear sign. New genetic information continues to accrue, and at some point a genetic reason for these anomalies may come to light.
As a 70 year old female on Medicare, I have gotten conflicting estimates on what if anything Medicare might pay for the genetic testing, which was quite pricey. I felt it important to have the testing done, if only to provide a heads-up for my children & sibs that they may be at risk. But with the “normal” results, that is a moot issue at this point. (If a genetic marker had come up, my children may well have chosen to not have their own testing done, because of the very real life insurance and disability insurance issue.)
With regard to getting a correct size estimate — well, good luck! I have had quite the range over the past three years: 3.8 cm & 4.1 cm (CT without contrast),
3.5 cm (MRA with contrast), 3.7 cm (echo), and 3.8 (CT with contrast)! The CT with contrast is generally the most accurate, so that’s what we’re going with for now. Despite the relatively innocuous finding, due to family history and an underlying connective tissue disease, I continue to be followed by the aortic center and a genetics specialist.

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Hi @thisnthat, It seems like you are doing all the right things! It is frustrating not to know the exact size, I'm hoping I will get that with my CT scan coming up. Thank you for the information! I wish you peace and good health moving forward 🙂

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tstet13 | @tstet13 | Apr 8 3:04pm
In reply to @cheri53 "My maternal grandfather and his sister both died from a ruptured aortic aneurysm. The doctors told..." + (show)
@cheri53

My maternal grandfather and his sister both died from a ruptured aortic aneurysm. The doctors told his children to all be checked, apparently it was considered a genetic issue. Two of his 5 children had it and were able have it fixed. We were all also warned to look for it. So it is in my records and is checked yearly.

Jump to this post

Hi Cheri53, Thank you for your information! Wonderful you are all being checked, unfortunate to lose family members in order for that to happen. Wishing you continued good health 🙂

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