Heart Issues?

[T_Anna]

Just received DS's Courtagen results.

 

One of the mutations was CDKL5 which can be linked to heart rythms problems, specifically QTc intervals.

 

This is concerning because DS15 has Cam Kinase II of 209 which is in the Syndham Chorea range and DH had a heart attack at age 31 (although we don't think it was related to rythm).

 

DH is going to the hospital today to pickup DS's EKGs from last week.

 

We took DS off Azithromycin and will try not to use Biaxin as well as no Rispedral.

 

In the past DS has complained of palpitations, especially when on Luvox, which he has been off since June.

 

Anyone else have a PANDAS/PANS kid with heart issues?

 

I remember someone's son had valve replacement surgery a few months back.

 

Other possible gene issues: GALC (Krabbe disease, doing blood test tomorrorw to rule out), WFS1 (wolram syndrome - not a huge concern at the moment).

 

TIA,

T.Anna

DS15

 

ps. still waiting 23andMe which we did the same day : /

[trintiybella]

Very interesting. Just got our genetic testing back too and found some thing. She had CDKL5 mutatin on Exon 16 and

Long QT Syndrome 3 mutation. Getting EKG today if I can get her out of house. I also have an appointment with epeliptologist and genetisisit at NYU. I wrote into a doctor that has been researching these genes and this is what she wrote back to me:

I think that they will need to run a few more genetic tests to make a diagnosis as the CDKL5 test has picked up a mutation however it is one that they have found in people who do not have any symptoms so they dont think that it is disease causing. The other results seem to be similar to this as well, we have lots of mutations that dont actually cause any issues. The thing is though that the tests which you have had done would only pick up certain mutations and we know that in CDKL5 that there are other mutations that this test would not have detected. I think that they will need to run some more specific tests and even perhaps a micro array to be sure. Your daughter does sound as though she is quite different to the other children in this group however because we still know so little about the CDKL5 disorder there may be even greater variations in the clinical presentation. I hope that you find some more answers after your appointment in September

[JoyBop]

How stressful! I wonder if a 24 hour monitor might be in order. I would ask about that particularly if here are any abnormalities on the EKG. The monitors can be worn at home but you do have to go in to have them put on and taken off. I'm sure a visit to a cardiologist might be in order. Hugs'nn

[T_Anna]

There's an App for that ; )

 

In my search for home EKG tests I found this review of a device you attach to your iPhone and it runs an EKG. It did mention that it could detect Q/T intervals...

 

http://www.imedicalapps.com/2013/03/physician-review-iphone-alivecor-ecg-heart-monitor/

[Crunchfly]

For QT intervals, I would seek out a pediatric cardiologist. We had quite a scare a few years ago when our daughter had an EKG that showed long QT. we were sent to a pediatric cardiologist for a full work up, and his initial EKG also showed long QT on the printout. While she was doing the echo, the cardiologist hand measured all of the EKGs that has been done and discovered that she does not have long QT. If I remember correctly, it was something in a normal sinus arrhythmia that was causing the machine to detect long QT. she was declared healthy ans we were sent on our way. This was 6 years ago, and she has has no issues.

[trintiybella]

Anna. My child also gets palpitations while on lots of medications. Have you found a list of medications that are not suppose to be taken if you have this mutation? Thanks.

[T_Anna]

Biaxin

Azithromycin

Rispedral

 

Were mentioned.

 

T.Anna

[trintiybella]

I took my girl off antibiotics until we have an EKG. Playing it safe. Anna, where did you see the list. I can't find a good one yet.

Edited August 8, 2013 by trintiybella

[LaurenK]

I have mitral valve prolapse with a slight regurgitation.

[T_Anna]

<<I took my girl off antibiotics until we have an EKG. Playing it safe. Anna, where did you see the list. I can't find a good one yet.>>

 

I read an article about Azithromycin (someone had posted it here - you can prob search)

 

Dr. T rambled off that list yesterday.

 

T.Anna

DS15

[trintiybella]

Anna - did your test say anything about folate deficiency?

[lfran]

Trinity, are you dealing with folate issues? If so, what kind?

[trintiybella]

something to do with the mthr mutation (only on one gene) that showed up on blood work. Then it showed up again on the genetic testing that doctor T. did.

I welcome any suggestions or advice. Thanks

[T_Anna]

No other folate, MTHR issues.

 

Got the EKG and results are FINE!! QT intervals well withing normal range, etc.

 

Thank God, one less issue to currently add to the worry pile.

 

T.Anna

[Dedee]

I have been a cardiac nurse for 23 years and while I am certainly not an expert I do have some knowledge about the subject. If there is a possibility that your child has long QT syndrome or any mutation that could cause issues with the QT interval then you should absolutely and as soon as you can get an appointment with a pediatric cardiologist. No other doctor should be giving you advice on this issue. Kids are different when it comes to the electrical conduction system. Different even than adults. When measuring QT intervals there is something called corrected QT interval (QTc). This is a formula used that takes into account the persons gender, age, and the heart rate at the time the EKG is being taken. The QTc is the only thing that can detect wheter there is a true QT abnormality. A Pediatric Cardiologist has perfected this after looking at thousands of EKG's from kids. A true QT abnormality can be serious and I would be concerned if it were present in my child but I would only trust this information from a specialist in the field. Fortunately, having the knowledge is awesome and you can very well have saved your child some potential life altering issues down the road by treating things ahead of time.

 

Electrical abnormalities such as QT syndrome are not in any way related to other heart problems such as blood flow issues that cause a heart attack or valve issues. You may check into your family history and see if there was anyone who died at a young age without warning or not related to any disease or illness.

 

In the mean time, get an appointment with the ped cardiologist and stay in tunned to dizzy spells, palpitations and such and keep a diary of any such events. Make sure your child is always well hydrated and not electrolyte imbalanced but as always don't go over board either.

 

I hesitate to say (in this group), that these things are quite rare and even when present rarely cause life threatening problems. But, hey we are all on this board right? So get it checked out and please let us know how things turn out. Thinking of you during all this time.

 

Dedee