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.