Daughter being evaluated for LQTS, my ?s

My concern is primarily in the pediatric electrophysiology realm.  8/06 I took my daughter back to her cardiologist for a 5 year f/u visit following her being dx'd with 1' heart block as a toddler (ECG,Echo and followup ECG done 6 mo later to confirm 1' with no structural abnormalities noted) because she was having some unspecific type GI complaints that were often resolved within 45 min.  Anyway, she was 8 y/o when we did the f/u ecg and surprisingly the ecg caught her in complete heart block - did an immediate echo, crude type of stress test......decided she was experiencing an acquired form of progressive type of heart block and would probably require pacing at some point, the timing of that pacing has been hard to determine - feel she's usually in 2:1 AV block which can move into 1:1 with exercise and an increased heart rate.

She's a very active girl - loves to dance, softball, swim team and playing in general.  Other than the nonspecific gi complaints - without symptoms, no syncopal episodes or reports of lightheadedness, dizziness... Our cardiologist called in an electrophysiologist - because of a need for additional data she underwent EPS in June.  I've been told what she has going on is very rare and as such very difficult to determine care.  I requested a 2nd op in Oct and that electrophysiologist concurred that she's a hard case to determine.  She seems to have good heart variability with exercise, resting heart rate ranges from 28-low 50s - with substantial bradycardia at night.  This doctor requested ecgs on all family(all seem normal), anti ro & la test (-)on me, an additional holter on my daughter (did an ecg and extensive echo at the visit) and actual stress test rhythms from March (which he found not as useful as he had hoped - for the majority of the test her P wave often interfered/masked the Twave making the accurate measurements difficult until closer to the test end when she was going back to baseline and 2:1block) - his nurse called me several weeks later to say he recommended a LQTS genetic test (Familion) - I was a bit taken back, had not even been thinking about a prolonged QT interval.  No immediate family hx  on sudden death - her great-great grandmother on my side died suddenly in her early 30s along with both of her sisters - at that time they assumed it was heart related - but that's all they knew at that time.  On my husband's side - he lost a first cousin to W-P-W around age 16 and his great uncle's (on his mother's side)son died in 1977 at age 22 from IHSS that they had tried unsuccessfully to control with medication - his death was due to uncontrolled fibrillation.  She has 2 healthy siblings, my health hx is unremarkable and her dad, age 53 takes med to control mild hypertension.  

I did a little research on prolonged qt intervals, LQTS and as a result had many questions and wanted to talk with that doctor personally - took a bit to catch up with him but did so last week as a result of our conversation my daughter has submitted the blood specimen for the LQTS test and I obtained 4 more ecgs from my cardiologist to send to this electrophysiologist - specifically he was wanting more rhythms to measure her qt interval - specifically wanting to get some strips with her transitioning from 1:1 with exercise into 2:1 as she returned to baseline - which we were able to get - have not heard his interpretations of these ecgs as yet - but before he slipped off the phone I inquired as to whether we should be adhering to qt safe drug lists, any reason to restrict exercise - he said yes to both - wanting her out of PE, recess and dance for present.  That kind of hit like a ton of bricks, aside of my concern as to why I had to raise the issues - was exactly how severely to limit the exercise.  

Anyway, I'm very concerned and stressed.  On my own I purchased a portable AED (3 lbs) - small enough to fit discretly into a side pocket of her back pack.  The school does not have one and we live in a fairly rural community - would take 15 min at a minimum for EMS to arrive.  The school nurse is comfortable  and actually pleasedwith her having one and has arranged actually to hold formal training for staff - but just needed something in writing from her doctor.  I spoke with his nurse and she said she felt it was too premature to have her carry one and would be too psychologically damaging.  I know my daughter very well and actually she asks daily when she can begin to carry it - think she views it as something she most likely will never need, but a bit of a safety net if we should until we sort everything out - actually the activity restriction is what she's having the greatest difficulty with.  My feeling is that after all the testing she's been through if he thinks it necessary to do the LQTS testing and restrict all exercise, that I want an AED assessible at all times for her until we know more.  If one day we determine it not to be even a consideration, I may donate it to the school.  My question, sorry for the long windedness - am I that off base in making that request of the doctor (a note granting permission for her to carry the AED to school - the school board is fine with is if they receive the note) his nurse sounded as if that would not be possible - no one is more concerned for my daughter's psychological, physical and spiritual well-being than me and I can see no psych harm, actually the reassurance she's alluded to is more on the positive end - and I can see no other down side.  What is your opinion on my request for a permission slip? I haven't asked, but I don't think he'd feel comfortably guaranteeing to me that she'd not have a dangerous arrhythmia during this waiting period (have another 6-7 weeks to go to received the genetic testing results) I have tons of test results, etc. but guess some of the more pertinent would be her most recent holter QTc .42-.52, longest r-r2.86, notes on her ecg sinus bradycardia and sinus arrhythmia, 1' & 2" av  block, av conduction mostly in a 2:1 pattern, LVH, QTc .42-.43(due to very slow heartrate) and absolute QT .50-.51.  Your opinion would be greatly appreciated, thank you so much for your consideration.

[stevie_wonder]

First off I would say that you are correct in having the AED with her at all times. I am no doctor but a QTc of .52 is quite long. I believe that an absolute QT over .5 is considered prolonged. I do know that sometimes QTc on holter monitors can be slightly longer that resting ECGs but .52 is still quite long. With her heart block it is best to find out for sure about LQTS. But remember that about 30% or even more will test negative for LQTS but still in fact have it. So it is best to treat it as LQTS until 100% certain. Make sure that your electrophysiologist is experienced in LQTS. There are many specialists on LQTS in the US who are very good at diagnosis. Is your daughter on Beta blockers? I do understand what you are going through, our family was diagnosed with LQTS last year and it can be very stressful.
Good luck.

[dolfnlvr]

You are WELL within your rights to request, and even demand a "permission slip" for your daughter to carry the portable.  Let me give you another example...My son is allergic to peanut butter.  He has never had an anaphylactic reaction, but his hands swell to twice their normal size and his lips get really fat and cumbersome.  Well...he has an epi pen available at ALL times.  Just because he has never had a life threatening reaction, and God willing never will, doesn't mean we shouldn't be prepared just in case.  He is not scared by the shot being available, and he feels comfort in knowing that if he inadvertently ingests peanuts he has a safety net.  Your daughter's situation is the same.  So here's this thing she will probably NEVER use.  But if she needs it and it's not there.......well, I don't have to type that out do I?  

The nurse had no right to make the suggestion that this was an inappropriate request, and I suggest that you speak directly with your doctor immediately.  At most I would think that your doctor would write the note and let you know that he thinks it is unnecessary, but why not?  Who's it gonna hurt???  

I'd be SHOCKED if you didn't get the note.

I am SOOOOOO sorry you are going through this with your beautiful little girl.  Let us pray that the doctors will find a treatment that will give her the normalcy she deserves.

Good luck to you all!!!