Does anyone have any information on FLNC Variant c4969C?

Posted by jcdaire83 @jcdaire83, Jul 31 5:46pm

My 53 year old brother suddenly passed away of apparent heart attack. After his death the whole family began testing ourselves and found out most of us have the FLNC Variant c4969C. This variant can cause cardiomyopathy and even Sudden Cardiac Arrest. Does anyone have any information on FLNC Variant c4969C? And know what hospitals are best for this?

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

Debra, Volunteer Mentor | @karukgirl | Jul 31 6:43pm

Hello @jcdaire83, and welcome to Mayo Clinic Connect.
I am so sorry that your brother passed away so suddenly. It's never easy to lose a loved one and your whole family must be in shock. And then to find out most of you and your family have the same genetic variant puts a whole new spin on your grief. People with HOCM/HCM (hypertrophic obstructive cardiomyopathy/hypertrophic cardiomyopathy) all share the risk of SCD (sudden cardiac death) which none of us likes to even think of. But sadly it is a reality. And your family now knows and has this hanging over your heads.
I have posted a link below from the National Library of Medicine. Perhaps you have already done your own research on this.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318287/
I did a quick search here on Connect and your post is the first and only post I could find with the mentioned information.
I am also posting a link to Mayo Clinic and HCM:
https://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/symptoms-causes/syc-20350198
And then because you may want more homework, I am posting another link to Mayo Clinic Genetic Counseling Department that may be interesting.
https://www.mayoclinichealthsystem.org/services-and-treatments/medical-genetics
The Mayo Clinic Rochester are the leading experts in Hypertrophic Cardiomyopathy. They are leaders in genetic testing and family counseling too. You have come to the right place for information, and I am sorry that I could not find any other posts regarding this variant on Connect.
Have you had a chance to read up on this, or is it still all a blur?

jcdaire83 | @jcdaire83 | Aug 1 3:58pm

In reply to @karukgirl "Hello @jcdaire83, and welcome to Mayo Clinic Connect. I am so sorry that your brother passed..." + (show)

@karukgirl Thank you for the information. I have done a lot of research and currently working with my cardiologists to see which hospital have the best research on our Genetic variant. Please let me know if you have any insights into Mayo Clinic's Cardiovascular Genomics Program. Thank you again for your support. JC

Justin McClanahan, Moderator | @JustinMcClanahan | Aug 2 7:50am

Hi @jcdaire83 - Here is a link with more information about Mayo Clinic's Cardiovascular Genomics Program, https://www.mayoclinic.org/departments-centers/cardiovascular-genomics-program/overview/ovc-20442075.

It is great to hear that your cardiologist is willing to work with you to help you find the best research center for your genetic variant. In the meantime, has your cardiologist given any recommendations on how to manage or monitor your diagnosis? Have they given you some things to watch out for?

walkinggirl | @walkinggirl | Aug 2 1:51pm

After I had a septal myectomy at Mayo, I was tested to see which gene(s) was responsible for the condition. Even though the 123 genes known 9/2022 to cause HCM were studied, NONE of these particular ones were mutated. I was told to test again in 5 years because it is expected that others will be discovered. My son and grandson had echocardiograms and need to repeat in 5 years. If the mutated gene could be found, they can be checked to see if they have it.

jcdaire83 | @jcdaire83 | Aug 6 7:07pm

In reply to @JustinMcClanahan "Hi @jcdaire83 - Here is a link with more information about Mayo Clinic's Cardiovascular Genomics Program,..." + (show)

My doctor implanted an ICD in December because of the following symptoms: Low Ejection Fraction Rate, Vtachs, and scaring in my heart. These are typical symptoms of the FLNC variant.