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No history diagnosis

satyampana
0 Recommendations

Do you know of anyone who has been diagnosed without a family history or "event"? My daughter just happened to get a long qt picked up on an EKG when she was being treated for Leukemia. It has taken 2 1/2 years to diagnose. She has had many normal EKGs and 3 longqt EKGs (0.52, 0.48, 0.47) usally along with sedation, spinal taps and Chemo. I think she may have been written off as medication induced if it had not been for the availability of the genetic test. She showed up positive on the genetic test. We'll get the specifics when we talk with the Dr on Thursday. The rest of the family will also get the genetic test.
Ann

Explore topics in this discussion:

Arrhythmia Heart disease Surgery Leukemia Sudden cardiac arrest Propranolol Seizures Long QT syndrome Beta blockers Pain Stress

12 replies

KierasMom

My daughter was dx. with Long QT when she was 1 1/2 it was confirmed with genetic testing. No one else in our family ever noticed anything, but since she's been diagnosed with it, many other family members now are starting to see it on their ekg's. It's commonly goes undiagnosed, alot of cardiologist don't specifically look at the QTc when doing a ekg. That and the events are commonly mis-diagnosed as seizures. My daughter was diagnosed prior to ever having a event.
How is daughter doing? Sounds like she has her plate full with Leukemia and Long QT, she'll be a pro when it comes to medical field by the time she's 16, the next doogie howser! ;)

MeghanDA

We also have no family history or "event" due to LQTS. Both of my boys have "suspected LQTS" based on Ecgs taken from the time my first son was a few days old (he was premature). They have also had many normal Ecgs and a few that turn up in the "grey area". We are currently waiting for genetic test results for my older son and then I guess we will take it from there. I find it strange that this wouldn't have turned up somewhere else in our very large family, but all my imediate family seem to have normal Ecgs. If the genetic tests come back positive, I am thinking I will ask some of my family to get their Ecgs done again. I just can't believe that both my boys would turn up with this and no one else.

Longqtoo

There are a number of reports of what the experts call "denovo" (new) mutations of the Long QT gene. The ECG and genetic test are positive for Long QT, but no other family members are found to have the disorder. It is also true that within a large family, there can be one or two members with symptoms and even if other members have positive or borderline ECGs, they may never have symptoms. That is one of the vexing problems with LQTS. In my own family, 4 siblings and I have abnormal ECGs, but only two have been highly symptomatic (fainting and cardiac arrest). Given all the above, it is not impossible that one or two could have the disorder with no other obvious family history.

MeghanDA

Thank you for your explanation. I'm not sure why my cadiologist has never explained this to me. What happens with family members who are asymptomatic but who have borderline Ecgs? Are they treated just in case?

KierasMom

They would be treated with beta blockers. I never had symptoms either, but they said it was genetically passed down, they did a ekg on both my husband and I. His was normal, mine was "grey" at 467. So they gave me a stress echo and once my heart rate got to 184 bpm I fainted. I then had another stress echo by a electropysiologist a week later, and didn't faint this time, by my QTc intervals was at 542. So he put me on beta blockers. I've never had "events" I've gone 26 years without knowing I had it, and yet now will be on beta blockers for life. My daughter on the other hand, before she turned 2 she had 3 events and was already on Propranolol . they call it the "walking time bomb" disease. You never know when the "bomb" goes off if it's a dud or not. My daughter has numerous symptoms, while I have none. Some people it affects worse than others. They can determine out of who has the genetic gene which ones will have symptoms and which ones wont, so once you get a positive on it, they have to treat you either way just in case. But they wont do surgery for a ICd unless you've had events.

Longqtoo

Every family and each individual patient's situation is different when it concerns Long QT Syndrome. There is no cut and dried directive that says you will necessarily be prescribed beta blockers for a so-called "borderline" QT interval. The current wisdom on what is considered prolonged is a corrected QT (QTc) manually measured (not what the ECG machine measures automatically) of >440ms in males and >460ms in females. That said, the QT interval can change from time to time and may even shorten on beta blockers. Beta blockers do not cure Long QT, but rather reduce the occurrence of rapid heart rates that can cause a potentially lethal arrhythmia called Torsade de Pointe tachycardia, the hallmark of Long QT which leads to events such as fainting and/or sudden cardiac arrest.

MeghanDA

Thanks again for the concise comment. All this different information and even different Doctors saying different things can be confusing and overwhelming. Not to mention trying to convince certain family members to get Ecgs and not having much luck. Your comments have really helped clear some things up for me.

satyampana

We have recieved further information about my daughter's genetic tests now. There are still a lot of questions out there. She has tested positive for LQT3. However, she has a class II mutation which Famillion reports as follows: "This mutation is a Class II variant, meaning it has the potential to cause a familial arrythmia-causing syndrome: (LQT3 or BrS1). However, approximately 5% of reported healthy volunteers have been found to possess Class II mutations." I think what they mean is that 5% of the population has some Class II variant. Also hers is a "novel" mutation which after reading the literature from familion seems to mean it is a mutation that did not show up in studies. Our EP has been in contact with Dr. Ackerman at Mayo who replied that there is a 50/50 chance it is a "normal" mutation and not LQTS. Although she had occassional longer QT intervals, she has not had an event. We're awaiting the next steps, possibly stress testing, as well as genetic tests on the other kids and myself.

meg12col

I was diagnosed six years ago with long qt. It took two years to get a diagnosis, though, because the first hospital that I was treated at didn't know what was causing my symptoms (chest pain and seizures). I am however the only one in my family who has it or shown signs of it. Immediate family members have been tested, but the results were negative. There is a history of heart disease on both sides of the family, but I don't think they are related to what I have.

CuriousDee

I am the first I know to be diagnosed with LQT. Have a long heart problem history on both sides of the family though. Had some symptoms and went for tests and know we are going through the system.

Part of the problem may be that some of the indicators are ignored, for instance our daughter passed out and went under water at 2 or 3 years and had some problems with swimming ever since, fevers, fainting, chest pain. We were told it was a problem with her body being unable to adjust properly to temp. changes.

My mother had a cousin who was a lifeguard and drowned in his late teens, early twentys but we were always told that they thought he hit his head. Medical treatment 50-70 years ago is not what it is now.

My kids Cardiologist, who specializes in this thing these as well as other events are indicators of genetic LQT.

I don't know?

mery

Yes. Me. As a couple of people have stated, once I received the diagnosis, stories started being told about Aunt So and So, and Uncle Him, and Great Great Grandpa, and Cousin You Know Who. :-) All this started after my SCA on January 7, 2004. My daughter is asymptomatic, all testing has been "normal". My son refuses to be tested stating that if he dies, then he does. Much to my displeasure, but he says he doesn't want to know. That his life is in God's hands any way, so he'll just go with that. Anyway, we've not had genetic testing done because I just can't afford it. I don't know if my son will change his mind now that his wife is pregnant.

Although I agree with him about all of our lives being in God's hands, still some things are good to know.

CuriousDee

My husband also has genticly passed disease, his family gave up and so did he, until I unexpectantly became pregnant. Suddenly he was not so calm and cool. He got further treatments and has been in remission for about 4 or 5 months before his last child was born.

Just be careful and know that there are doctors who will reccomend that a child be aborted becaouse of hereditary defects or diseases in siblings or parents. This happened to us and to others I know. I am not saying this to worry you but to make you aware. My kids have some health problems but they are fine. I just was lucky enough to be strong enough to fight someone who promoted himself to know better than I, who should be allowed to live. I told him that if my baby had anything we would cope somehow and we are.

I know for my immediate family finding out about lqt has been a struggle, we are still struggling, and for family members it seems to seem impossible that a whole family could have something and be passing it genetically. Most of my family have told me to keep quiet and not bother them with such a crazy thing, if it was in the family, they would know.

Good Luck to us all,
May we find info,
May our families accept.

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