LQT2 and LQT7

acec
  • By acec · October 25, 2010 at 8:55 pm · 11 replies
  • In Genetic testing
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I am hoping for some advice
I have just had confirmation of positive identification of LQT2 and LQT7 on my genetic testing.
I am asympttomatic and was investigated due to incidental finding on ecg, My QT on stress test and holter monitor was >500 at times, My resting ecg has been normal on some occasions
I have seen the genetics dr but am soon to go back to see the cardiologist to discuss
I am concerned for the implications for my 18mth old son- how and when should he be investigated?
what have others been recommended in terms of risk management?
If anyone has experiences to share I would be very grateful

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11 replies   

LilMamaB

I also have LQT2 and am a Mom to 5. Your son can be tested at anytime. You can do the test through Familion. It is a simple blood test that requires only a small amount of blood (1 small vial). Since you already have your results, it will be easier and less expensive to test your son. In fact, the children's insurance picked up the $900 fee for testing. The test results should take less than 3 weeks. I would strongly recommend testing him when you're comfortable. Knowledge is power!

I have an ICD, implanted in 2004, due to repeated breakthrough VT's while on beta-blockers. If you can manage the LQT with beta-blockers, your EP cardiologist shouldn't have to implant an ICD.

Best wishes in your decision.

acec

Thanks for your reply
I am planning to have a genetic test done and I guess also an ecg , I guess I a concerned about the management - since I have never had any symptoms I do not know what sort of precautions will be advised for my son (if he has it) - it is hard to consider potential medications, restricted activity and a life of worrying . I know it would be different if I experienced problems, because the disease would feel more "real" ( not that I am complaining, I know it can be a devastating condition) I know I should be grateful for finding out, but in a way I wish I never had
anyway thanks again for your reply, hope you and your children stay well

heartfelt1

Our family was also identified via an incidental ecg that was borderline qt prolonged. The genetic mutation that has been identified in our family is a class II mutation LQT2 that can possibly cause disease, and therefore, we are treated prophylactically. The exact mutation has been described by our physician as extremely low risk. Some of us take betas, some don't. We are not restricted from competitive sports, or anything really. We avoid the QT drug list and we own an AED that stays at home. I was terrified at first and still get a little frightened by the possiblilities sometimes, but our doctor has tried to reassure us that being identified and managed properly, even if just being watched, we can expect to have normal lives. Find a doctor who is an expert in this field. It has made our lives much easier.

Try to learn about the exact location of your family mutation and what the risk assessment is based on that information. There is lots of discussion among experts that each mutation location has a unique risk profile that can help with treatment options.

acec

thankyou heartfelt1 !
That helps to hear your experience
I think the mutation in me is classed as pathogenic however I will ask details about whether the type of mutation can further clarify my risk
I agree the possibilities seem very scary
We are also considering having a second child and concerned re passing on this gene and possibly causing very scary problems, even though it doesn't seem to in me
thanks again

mom3boys

My 12 yr old son was diagnosed 2 yrs ago w/LQT2. He fainted and they did an EKG "as a precaution". His qt measured 576 at rest. He was already a superstar athlete, now, no soccer, no baseball, track, no competitive sports except for golf and bowling. Lots of tears later, he misses sports more than anything, but he knows it's foolish to risk his life for a ball game. We've gone from being a "jock" family running to practices and out of state tournaments to just being home more. My husband carries it but didn't know it. Our 26 yr old refuses to be tested b/c he doesn't want to "live his life afraid." My husband's sister got an ICD last yr b/c she's had fainting episodes her whole life and they misdiagnosed her as epileptic. My husband's other two brothers don't want to be tested, they think they're okay b/c they've never fainted. Most of his family think I've made a big deal out of nothing, which our cardiologist said is typical. He said when a child dies suddenly, family members can't get tested fast enough, but when they're lucky enough to catch LQT before a child dies, family members frequently refuse to be tested. Go figure. Make sure you visit www.stopsads.org .

kmucci

How can you have two different types of LQT??

kmucci
  • By kmucci
  • Reply 1185522 · In reply to 1154624 by mom3boys
  • November 19, 2010 at 11:17 am
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To the mom with 3 boys:

576 is pretty bad. My son's interval was 580 at birth. But now he is on meds at 4 months old, his interval is 560. Still really long. He has a pacemaker. He almost died when he was 2 days old. With that level, is your son on meds and does he have an ICD?

mom3boys

First, there are many "versions" of LQT with LQT1, LQT2 and LQT3 being the most common. Each one tends to have different triggers that could cause a cardiac arrest. My son has LQT2 which they believe the main triggers are extreme physical exertion and startling or suprising noises or actions. He cannot have an alarm clock or a phone in his room. Cannot ride rides or watch scary movies. The version of LQT was determined by the genetic testing we went through w/Familion lab in CT. They used to be the only one doing the DNA/genetic testing although I believe there may be others now. He takes Naldolol twice a day and has not had any additional episodes since his first two prior to diagnosis. His cardiologist said if he has another one he will get an implant but he doubts that will happen since it's been two years and he's done well on the meds (and we removed all the competitive sports). He also sees the specialist twice a year, each time for an EKG and once a year he does a stress test (which I hate watching) and the other visit once a year he gets a 24 hour holter monitor. So far so good. We are living with it and realize how lucky we were that he was diagnosed before we lost him.

kmucci

I know there are many versions or types. I meant to say... how can you have two different types at the same time. I have been told that one person can only have one type.

mom3boys

Not sure how I gave the impression that he has two types of LQT ~ you're right, you can only have one type. It's LQT2 in our family. Sorry for the confusion.

kmucci

My son's results came back positive for LQT 1, 2 and 9. So apparently, one person CAN have more than one type. Problem is, we have no idea how this happened. My tests were only positive for LQT 1

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