Prolonged Q-T Wave Death

[JD*]

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I am posting this not for sympathy but for education. My son, John died of> Q-T wave. What do we know of this illness? My students vary in their knowledge. Facts:
1. www.sads.org
2. The center is in Salt Lake City. UT and for a reason. There are several id'ed genes, mostly done in U of Washington.
3. The center of study is in Finland. Apparently it is a common way to die in Sweden, Finland etc.
One popular sport is running in the forest to goals. Men drop dead.
4. Mormons, back to SLC, have a higher rate than non-Mormons families. Opinion, mine not yet fact. The center in SLC was set up to use the LDS data bank of past families. Dr. Vincent is studying the family Christensen, a common LDS name.
5 My relatives all came from Sweden; my wife was born there.
6.Ekg's are 10 sec & are useless-- junk. Use as halter or stress. My second son had an lethal >Q-T at 4:30 Am. The next day he had an ICD at Cedars--Damn good hospital
7. Get halters on those who report 'fainting'
8. SADS is believed now to be one base of the SIDS syndrome.
9. I had a resident say all meds are +, NOT true, learn the rate of meds. Some are worse than others. This information has been posted. Mellaril is going down the drain by the FDA for Q-T problems.
My best to you. 8000 beautiful young people die each year. My son was a champion tennis player at Santa Barbara. He died in his sleep. The first symptom of SADS is death. Tnx JD PhD.

 

[dude7]

it would be unhumanly to simply not even give a moment of prayer for you and your son. I am sorry as to what has happened. Thanks for the info

 

[praying4MD]

What, if anything, can be done to prevent this? How would one know in advance? What other symptoms, if any, should one be on the lookout for? I apologize in advance if any of these questions delve too far into your private history. If you do not feel comfortable answering them, please do not feel any obligation whatsoever. Thank you for this potentially life-saving information. Like the other poster also mentioned, my condolences on the passing of your son. Your determination and strength shows in your post and your motive to inform others is very admirable indeed.

 

[Jamier2]

JD, I feel for you. I unfortunately know what it is to bury a child, and hope that you are coping well with this trajedy.

 

[Hopkins2010]

JD,

I am extremely sorry to hear about your loss. I am hopeful that there will be new treatments for this condition in the future. I am working on a conceptual design of a new kind of pacemaker which has functionality to treat certain long QT syndromes.

It turns out there are several genetic aberrations that lead to long QT. Using DSP filtering, its possible for the pacemaker to generate a pulse that will cause the ventricle repolarization to occur sooner (effectively shortening the QT interval) for one of the genetic aberrations. Unfortunately, at this point this therapy is only effective for sodium channels affected with the SCN5A gene mutation, which is the only mutation affecting the sodium channel (all other LQTS mutations affect potassium channels).

Although its not here yet, I believe that its possible with a combination of drugs and possible pacemaker/defibrillator intervention CAN AND WILL be effective someday in curing/diagnosing all forms of LQTS. Maybe thats an optimistic viewpoint, but I've been keeping up with this specific disease (along with other electrical heart defects) and there is progress being made.

I know its too late to save your son, but there are people working on this, and we are making progress. I know that must be poor consolation to you, but I hope you can find some solace in this. My prayers are with you.

 

[Hopkins2010]

Originally posted by praying4MD:
•What, if anything, can be done to prevent this? How would one know in advance? What other symptoms, if any, should one be on the lookout for? I apologize in advance if any of these questions delve too far into your private history. If you do not feel comfortable answering them, please do not feel any obligation whatsoever. Thank you for this potentially life-saving information. Like the other poster also mentioned, my condolences on the passing of your son. Your determination and strength shows in your post and your motive to inform others is very admirable indeed.•

praying4MD,

LQTS (long QT syndrome) can be brought about by certain drugs, or can be caused by strokes. LQTS can also be caused by genetic mutations, which is the form I believe JD was referring to.

The genetic form of LQTS can be particularly dangerous because its so hard to diagnose. A standard EKG won't help because LQTS does not show up in every heart cycle and often leaves no apparent trace in the ECG. It does turn out that using special DSP filtering it may be possible to extract signal information from an ECG revealing genetic LQTS in a non-syncope rhythm, but its a fairly complicated algorithm and standard EKG machines dont have this capability.

So, to make a long story short, currently there is NO proven effective way of diagnosing genetic LQTS. Usually the first indication that someone has LQTS is not noticed until a syncope-driven rhythm occurs, which can result in a torsade de pointes arrythmia, which if it propagates over a few cycles, is fatal.

Of course, if an LQT rhythm is spotted and recorded on an ECG, thats great, but unfortunately a normal-looking ECG is NOT necessarily an contraindication of LQTS. I'm not sure what the exact stats are, but I'm tempted to say that around 50% of all LQTS patients show no symptoms by ECG.

Usually, the only other symptom besides sudden death is syncope (fainting), especially during heavy exercise. It also occurs during sleep.

I would have thought that genetic testing would be available to diagnose LQTS but for technical reasons beyond the scope of my understanding I guess its just not possible yet.

Can you molecular genetics people out there help us out? Scientists know the particular mutated genes and chromosomes that result in the genetic form of LQT, but why cant they screen for those in a standard test as an infant or something?

 

[coop]

JD, I would also like to say I am truly sorry for your loss.

baylor has given a good summary of the mechanisms of the disease. I read a great, and very recent review from cell which discussed the molecular mechanisms of the disease.

Keating MT, Sanguinetti MC. Molecular and Cellular Mechanisms of Cardiac Arrythmias. Cell. 2001 Feb 23;104(4):569-80

I recommend it if you have just a basic understanding of genetics and proteins it is pretty easy reading and keating (at harvard) and sanguinetti (at Utah) are 2 of the worlds biggest labs in this field.

 

[JD*]

Good morning all. Thank you very much. I'm coping, lousy.
Several points. Review to the certain "bad meds" I don't like to see Haldol given in the ER to SOB's. My son is not sure of Haldol but the EPS, I know about.I know Thorazine is Public Enemy no 1, Use Ativan. It's works faster to control that dude. Don't know where it ranks on the scale but it would be less than Vit H.

My son has a ICD and it has gone off twice. Hurts, he says. There is a complex alogorithm. I would state the death rate after 1st attack for certain types of PQTS may be over 50%.

Check into www.sads.org For free, they will send you all the data you need.

Why do pathologists fail and are such a pain in the ass. I talked to the coroner who said "I don't know" and " I have a lot of people here that I just don't know? "Your son had a good heart"

Screen with halter, infants of Northern European background" I would pay for that and throw the money making EKG machine in the trash.My second son's EKG is norma. 9/10 as is mine. Meds are, I think, work at a 60% protection, med plus ICD +- 90 safety. Use Atenonol.

Do you know that there are families that have lost 2 or more children. It figures. I worked alone to help my second son. Cards, believe it or not , vary in their knowledge re PQTS. None helped us until we arrived at Cedars, the Best. Thomas Peter's M.D., who is the Best. Interesting, I learned from you. Sorry I cann't be so smart as to write your names down. Some cognitive impairment. But to the left, thanks.
Work as a peds cardilogist. What a great field that would be, saving lives.
Now don't worry about me. Learn electricity. That's the future and check into www. sads.org and my very, very best to you bright MDs. JD

 

[JD*]

dude7, praying 4MD. Jamier, baylor21 and coop,I want to share this with you.

Last week we received a letter from John David(JD) my dead son. It was dated 6-12-97 and is awesome. We don't know who mailed it. It starts,"I can't imagine giving my future goals and what I definitely plan to do. I've smoothed my way through high school and have the chance to jump right into college at an impressive University, UC Santa Barbara...What I want in four years, A job, a girl and a Porsche...I want to travel the world like John Steinbeck. I will get my Masters and PhD."
Goes on. John had some problems. He was an inpt at our local hospital and produced a "Borderline EKG" One doc said he'"missed it"; the others did not call. Anyway, I'll be OK. Patients are people just like yourself, not the ER type but like you. GB& GL JD


Coop, Baylor and others. What's your opinion of what the hell is going on here. Why so many "different " types of PQTS? No facts--Your opinions please???

 

[coop]

JD, amazing to get a letter like that. My opinion on LQT, based in fact, is that the reason for so many possible causes is that there are many ion channels which make up the cardiac action potential. These channels are designed to get ions thru with certain efficiency and to be regulated by certain factors. What you need to happen is for Na+ channels to inactivate, then close and K+ channels to open and bring down the voltage in your heart. if the Na wont close or the K won't open you get an extended piece of the action potential called the QT portion. From what I have gathered the most common way (or let's at least say a common way) for this to cause problems is for there to be a minor genetic mutation in a K+ channel gene which allows the ion channel to function normclly or close to normally, however the mutation is in a regulatory region and confers a hypersensitivity to some chemical which can block the channel.

The reason for such variety is that there are a fair number of genes (probably<10) each of which can have thousands of different mutations, each of which could theoretically confer binding to a multitude of different chemicals which could block the channel.

Just so you know I'm an undergraduate with some basic knowledge of ion channels, I'm not a doctor yet, and have really no idea how this basic science translates into treatments. Good luck with finding info and coping with your loss.

 

[JD*]

coop My son read your post and said correct. He describes it as a door swinging. Rick, my son, is in the web with the www.sads.org group. I asked to see his computer e-mail and there were 572 new e-mails. Apparently, they have a circle of distribution. BTW, he said you should go into Science and not med school. Oh, that hurts. GB JD

 

[KG]

This is good info, I'll print it out for future reference and to share with friends who apparently have this running in their family. They lost their daughter, and have had various other sudden deaths in the dad's side of the family that seem to be associated with this syndrome.

My sympathy to you also, JD. I have an idea of what you're going through; I lost my son to a brain tumor. Getting together with other parents who have lost children has been helpful.

That's also an interesting point that deaths blamed on SIDS may be from long QT.

Hang in there, the pain eases a little with time, but of course, it's never over. I wish you comfort.

 

[JD*]

KG your post met a lot to me.You can understand the pain. I wish there was a way to respond without bumping this up. May it RIP. Thank's all JD