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Familial Thoracic Aortic Aneurysm Syndrome

22 July 2003

Last September, my 19 year old son called me to tell me he was having chest pains. I told him I'd meet him at the ER. When we arrived, we immediately informed the staff of a family history of aortic dissection (his father and uncle). They did a chest x-ray and EKG that they said were normal. (I later learned his EKG was not normal). They diagnosed it as pleurisy and sent us home, telling us to see our family doc.

Two days later, we did and he thought pleurisy was the correct diagnosis, but also thought he had a throat infection and had him start on antibiotics. Three days later, I got another call from my son that the chest pains were back and worse. I drove to get him and returned to the same ER. Another chest x-ray and EKG were performed and both were "normal".

I requested an echocardiogram but was refused as "there is no one to read it, and besides, it isn't a cardiology problem." They gave him a breathing treatment and told him to take Advil for the inflammation. Regretably, I believed them.

I checked on him the next 3 days, even celebrating his sister's birthday together. He said he felt better; still some tightness. Three days after the last ER visit, he went out with friends and collapsed in a parking lot. The EMTs were unable to revive him. An autopsy revealed aortic dissection. His tear occurred in exactly the same spot as his father and uncle. The following week, his 22-year old brother had surgery to repair his aorta in the exact same spot.

There is a name for this syndrome - Familial Thoracic Aortic Aneurysm Syndrome. The University of Texas Health Science Center in Houston is working to develop a blood test to identify markers. If there is any family history, you are at risk. See your cardiologist and demand an echocardiogram to monitor the size of your aorta. It is operable, though the number of qualified surgeons doing this surgery are few.

Discussion, comments, or questions: Debra McMillan


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