Genetic testing for Hypertrophic Cardiomyopathy (HCM)

Hello @ipizza, and a warm welcome to Mayo Connect. I'm glad you found us. Is this the article you read about HCM (Hypertrophic Cardiomyopathy)?

https://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/symptoms-causes/syc-20350198 I read it to see if I could find anything regarding the genetic test kit you mentioned, and I did not see anything. I also did a little research to see if I could find it elsewhere and did not find anything about a free genetic test kit. I understand why you would like to know, especially if your mother was diagnosed with a "thickened heart muscle". A lot of times HCM is not diagnosed right away.
Am going to bring in @colleenyoung Mayo Clinic Connect Director. She may know more about this than I do, and share with us. Then we will both know!
Do you have a cardiologist? Have you had an echo?

Thank you. Had an echo years ago after experiencing extensive PVC’s after completing chemo for stage 2 breast cancer and stage 4 ovarian cancer.
I’m going to try to attach the article I mentioned
Thank you!

Answer to @ipizza
Please call (507) 284-2111 and follow the prompts. They may be able to direct you to the right area to have that free HCM testing kit mailed to you.
If that number does not help try this 507-284-3994 7 a.m. to 6 p.m. central standard time. For calls outside the U.S., call 507-516-0443.

I hope someone in there can help you. If not you can try to find a Cardiology office that is specialized in HCM treatment and they may give you other leads how to get the HCM testing kit.

This is the weblink where they say the Mayo Clinic provides that free test kit:
https://newsnetwork.mayoclinic.org/discussion/mayo-clinic-q-a-what-is-hypertrophic-cardiomyopathy/
Best luck to you.

@ipizza and @karukgirl, I'm on it and will get back to as soon as I find out something.

Thank you!

I found out more information. To qualify for genetic testing, patients must have suspected or confirmed hypertrophic cardiomyopathy, and the test needs to be ordered by a hypertrophic cardiomyopathy (HCM) specialist. Hypertrophic cardiomyopathy usually is passed down through families. That means it's inherited. People with one parent with hypertrophic cardiomyopathy have a 50% chance of having the gene change that causes the disease.

Parents, children, or brothers or sisters of a person with hypertrophic cardiomyopathy should discuss this test with their cardiologist or HCM specialist.

@ipizza, since your mother was diagnosed with “a thickened septal wall” and you are experiencing some symptoms characteristic of HCM, you should speak to a cardiologist about ordering the test for you. Was your mother diagnosed with HCM or HOCM? Did she have heart surgery?

@ipizza, I see that you have also had breast cancer and ovarian cancer. You may be interested in joining the discussions in these related support groups:
- Breast Cancer Support Group https://connect.mayoclinic.org/group/breast-cancer/
- Gynecologic Cancers Support Group https://connect.mayoclinic.org/group/gynecologic-cancer/

Both these cancers can have genetic or familial mutations. Here's more information from Mayo Clinic about genetic counseling. https://www.mayoclinic.org/departments-centers/clinical-genomics/services
Excerpt: "A genetic counselor has advanced training in medical genetics and counseling. Genetic counselors help and support people as they navigate and seek information about inherited conditions that could potentially affect them or their families. Genetic counselors often meet with patients and their families before and after genetic testing. Genetic counselors work in different areas of health care (for example, prenatal, cancer, pediatrics and more) and are important members of many health care teams.

To best support patients and their families and provide accurate information about genetic risks, a genetic counselor will often ask questions about personal medical history and family health history.

A genetic counselor may discuss:
- Your chance of inheriting certain genes or conditions based on your personal medical history, family health history or both
- Your chance of passing on a genetic condition to your children
- How a certain genetic condition could impact your health or the health of family members
- Options for genetic testing, if available
- The benefits, risks and limitations of genetic testing for you, your family members or future children
- Ways to talk about and share information about a genetic condition with family members

Did you ever have genetic testing related to cancer? Do you have a family history of cancer?

Hi Colleen, yes I have had genetic testing when I was diagnosed with the breast and ovarian cancers (had them both at the same time). I have the BRACA 2 mutation as does my oldest daughter, a sister (who had hx of BC x2), her daughter and son are also positive. I have 2 female cousins whom I shared my testing results with and they two were positive. Cousins are on my dads said so it was determined that the mutation was paternal.
We all have had genetic counseling. This year I will celebrate 10 years cancer free 🙏🎉
Thank you for all the information you shared.

No, as far as I remember the doctor who did the TEE had me in the room while he dictated his findings (so he didn’t have to repeat himself he said 🙄) only mentioned “thickening of the septal wall”. Of course the medical records are no longer available.
I see a pulmonologist next week and will ask him about being referred to a cardiologist.

I had genetic testing for HCM and 123 genes were studied. None of them had a mutation and the genetic counselor strongly suggested that I be retested in about 5 years. Apparently, new HCM causing gene mutations are discovered periodically. My son and grandson had echocardiograms and all was well.