Genetic connections

[kiwi Junior Contributor Find all posts View Profile Close kiwi]

My brother and sister each got tested last month - one in England and one in New Zealand. I am really proud of them as neither really wanted to - and I honestly didn't nag (because I knew that would make them dig their toes in).

The great news is that both of them have had clear diagnoses. They are both in their mid 50's.

However in both cases they were told that their adolescent children should be tested (one has an 18 year old son, the other a 12 year old daughter, and it was as much in their interests that I hoped they'd get tested.

All my reading on this site would suggest that if they're each clear (and their age too), then their kids would be okay, as they wouldn't have had the genetic codes to pass on.

Any advice? Are the doctors simply looking to maximise income or should they take it as genuine advice?

[Midge Rollins Moderator Find all posts View Profile Close Midge Rollins]

I was told if the genetic testing is clear for my children then it will not carry over to their children. However, I would suggest they contact a genetic counselor for more information. Perhaps Lisa would have more answers on this.

[Boz Atria Find all posts View Profile Close Boz]

Heart screening by echocardiogram and EKG is not the same thing as genetic testing. Siblings should be screened and it probably wouldn't be a bad idea for their children to be screened as well.

The genetic test would have to be performed on you first to locate and identify the specific mutation. The process take between 4 and 6 weeks to complete and is only done by a handful of labs in the world. Once a mutation is isolated in the individual exhibiting clinical symptoms (you), then your siblings could participate in a similar proceedure to look for a match. If they are infact genetically clear, then their children would be also.

[Pam Alexson Moderator Find all posts View Profile Close Pam Alexson]

Kiwi,

Boz has given you some great information., I hope it clarifies that actual genetic testing is the only way to be absolutly more certain that an individual will not develop the disease.

As HCM has many unknown variants known and emerging , there are individuals who test clear in their early years via EKG/Echo and then the disease sometimes emerges later in life.

Pam

[Reenie Super Moderator Find all posts View Profile Close Reenie]

I'm reading this as your siblings were tested, not genetically, but through echo and EKG. You asked about a genetic connection, not genetic testing. The doctors are right, the nieces and nephews do need to be tested too. Your siblings might well be clear of HCM, but they may also have a "hidden" form of HCM where their septums aren't enlarged. The only way to know for sure if for you to have a genetic test done, your mutation be identified, then your siblings be tested genetically. That's the only positive way I know to be sure they are free of HCM. On the other hand, if they are showing clear on echo and EKG now, they probably really are clear.

Reenie

[kiwi Junior Contributor Find all posts View Profile Close kiwi]

Genetic connections

Thanks for the feedback people. You're right - they had echos and EKGs, not genetic tests. My parents and all their siblings are dead, so we can't go back any generations, and although my mother's family has a history of heart problems, none involved sudden death - most involved high blood pressure and its consequences. So it would seem I might be a one off, and as I don't have children, it's likely to stop with me in this family tree.

One rather useful outcome I have noticed is that they have changed the way they talk about HOCM. In each case they said they were being tested because of my diagnosis. For example my sister was asked if I was on a waiting list for surgery. She knows I'm not, but it sent her into a spin realising that it's a possibility. But now if I say I had a bad night she takes it a bit more seriously.

[Janet Contributor Find all posts View Profile Close Janet]

I must put my two cents in here, your sibling's children should get checked. My one sister came up with a clear Echo, but her daughter (3, my neice) came up postive for HC and her son (4-1/2, my nephew) has a heart murmur that they want checked by Echo on both kids on a yearly basis.

Be well, Janet