has anyone else tested positive for SAMS3 Loeys-Dietz Syndrome Type 3?

Posted by scot1965 @scot1965, Dec 23, 2025

I have been diagnosed with severe HOCM with mitral valve regurgitation as of September. In genetic testing, I came up positive for SAMS3. My brother had an aortic dissection and almost died. The professionals are a little flumoxed with this (is it related? Am I unlucky enough to have both?).

Anyone else, or am I patient zero?

Interested in more discussions like this? Go to the Hypertrophic Cardiomyopathy (HCM) Support Group.

kquilts | @kquilts | Jun 1 10:20am

Yes, go look at Loeys Dietz Foundation https://www.loeysdietz.org/ online for many answers and resources! They have a nurse you can call with questions and will check with doctors for answers. They have a great resource section that helps with answers for yourself but also a good resource to take to your doctors.