lqts 1,2 & 3

[slick5679]

I have had the genetic test done for LQT, i have tested positive for LQT 3 along with symptoms of low heart rate i just had a ICD implanted.My 9 year old was tested first, he too has LQT 1 &2 along with my first son (24 years old) has LQT3 My question is how is it possible that my one son has lqt 1 &2  and Myself & my older son has LQT3?( They have 2 different fathers)

[stevie_wonder]

I'm terribly sorry to hear about your wife and your son. I can imagine that you are very overwhelmed right now with all this.
Your 12 year old son has a very high chance of having LQT if he was an identical twin and a 50/50 chance if not. What tests have your sons had? I would be very careful with them until they have been diagnosed and treated. Are you seeing an Electrophysiologist? If not, do find one soon.
I'm not telling you what to do but if that was my son, I would not let him play football until he is finished with his testing and cleared. But that is just my opinion.
Please take care

[slick5679]

I am so sorry to hear about your wife.                                                                          I just found out the pediatric cardiologist read my sons genteic report wrong. All 3 of us have LQT 3. I had a defibrulator put in, they may suggest the same thing? They say swimming is the worst sport for anyone with LQT? He may have had a heart attack and they rule it as to having drown? Don't let your son over exhaust himself and if he feels exhausted he should rest. They told me my son can play sports, but not to over exhaust himself. IF he feels heart beating fast to stop & rest. IF it was LQT 1 or 2 they have more of a chance to have heart arrithmia during sports(that is what i was told by dr)Best of luck to you. Prayers are with you & family.

[latrece23]

Yes, I just found out that my wife has LQT 3 and she is now in a nursing home in a coma. And my two sons which are 12 & 16 yrs old are now being tested right now. They are saying that the 12 yr old might have it. Mind you one of our 12 yr old twins that we had just drowned in a swimming pool accident last year. The 12 yr old is now playing football and is a stud. Where do i go with this situtation?

[slick5679]

yes, this does clear it up a little better. I think i will schedule to have my Husband tested. thank you.

[stevie_wonder]

Hi,
Actually all LQTS types 1 through 12 are autosomal dominant meaning if you have the mutation you are affected by LQTS. There are only two types of LQTS that are recessive, Jervell and Lang-Nielsen (JLN) syndrome JLN1 & JLN2. With JLN it is possible to be a carrier and not be affected but could pass it on to children. JLN almost always involves some form of hearing loss. JLN1 is found on the same gene as LQT1 and JLN2 is found on the same gene as LQT5.

It could be possible that your one son contracted these mutations from his father and his father could have LQT1 and LQT2 and not be aware of it. His father should probably be checked out because if he has the mutations he is at risk.

It could also be possible that your son had spontaneous mutations on his own. This is not that common with LQTS but it does happen. There is also the possibility that you also have other mutations that the genetic testing di not show up.

With improved genetic testing they are finding many families with multiple mutations. Genetic testing is not perfect yet and should only be used in addition to other cardiac testing.

Hope this explanation helps you understand better.

Take care,

[slick5679]

That's more clear. Actually my 9 year old has LQT 1 & 2.  So probably his father(my husband) possibly has a recessive form of it? I should probably have my husband's genetic test done?

[bayleaf]

Sorry, I misread your intial post.

The 24 year old has the same thing you do, so I would assume you have a dominant form of it that, if passed along, will show up in your children.  

The 9 year old son has LQT 3 mutation, meaning he got it from the father if you do not have it.  His father could have a recessive form of it (meaning it doesn't show up, so he does not have the "disease") but your son could've got the dominant form of it, meaning he does "have the disease".  

[slick5679]

I am still confused? The Lab told me i do not have lqt 1& 2, only 3?Does this mean my husband could have it and that is how my 9 year old has 1&2.  There is still so muchinfo to find out about this syndrom.                                                                 Thanks for your response, just trying to get a better grip on what is going on in my life.  

[bayleaf]

Here's the problem with genetic testing for LQT 1-12... They can present (and therefore be inherited) as dominant OR recessive.  This means that you could carry the genetic mutation for LQT 1 and 2, and these could show as dominant, therefore you have it.  You could be carrying the LQT 3 mutation, but it could be in a recessive position, so you don't "have it".  You passed LQT 1 and 2 to one son, who received them as dominant, so he has those.  You passed your recessive LQT 3 to your older son, and one of 2 things happened...  Either his father also passed the recessive LQT 3 mutation to him, giving him the 2 recessive genes which will cause him to "have it".  Or, he received your recessive LQT 3 mutation, received it as dominant, so it overrides whatever his father gave him, resulting in having the condition.

Basically, all genetic mutations are passed as either dominant or recessive.  If dominant, it shows and you have it.  If recessive, it takes the back seat to the dominant gene.  If you receive the recessive version from both parents, than that recessive version will show.  With the LQT mutations, they can be recessive or dominant, so you never know when they'll show up.  What I can promise you is that you or the father (or both) is carrying a recessive version of the LQT 3 mutation...  That's why you and him don't appear to have it (you have a dominant "normal" gene).  But obviously he had to get it form somewhere, so it came from one of you two.