Stanford, Dec. 11, '08

[pdquick]

I have restrictive CM with a troponin T2 gene mutation. I've been getting care at UCSF at the adult congenital heart disease (ACHD) clinic and recently the heart transplant clinic. I was born with ventricular septal defect--various cards attributed all my symptoms to that until I saw Dr. Elyse Foster at the ACHD clinic, and she confirmed my feeling that none of that made sense. Genetic testing was the key to diagnosis for me, since I have no hypertrophy. I hear great things about Dr. Ashley.

[pdquick]

Interesting visit, and I'm still processing. He told me that my stroke volume was about half normal on echo--which means my little heart puts out about half as much blood per beat as a normal person's. Also, he said I had mild apical hypertrophy on echo. No one has ever called hypertrophy on an echo before, and I've had literally dozens, starting in 1968. It's not clear to me if this is really a new development or just a shading of interpretation, perhaps influenced by the fact that I am now known to have an HCM mutation. He agrees I'm probably headed for transplant. I asked him to take a consultative role in my care, and for the time being I am going to keep going to UCSF. He did agree that being on losartan is worth a try.

[Linda]

It is a lot to process - have you had a chance to discuss this latest with those in the HCMA office?

Linda

[pdquick]

I had a nice conversation with Lisa before going. Not sure there's much to be gained by calling the office now. There's nothing I don't get. As a side note, I will ask Stanford to put my echo on a disk, and ask Dr. Foster at tUCSF to take a look. When I have Dr. Ashley's recommendations in writing, I will go over them with Dr. Foster, Dr. DeMarco, and Dr. Olgin at UC.